From 8c85a0874a5edd2c66181cd4f2f422fdd309426a Mon Sep 17 00:00:00 2001
From: Lauren Rekerle
Date: Tue, 9 Jan 2024 10:28:30 -0600
Subject: [PATCH 01/25] updates to error messages
---
...tinez_PMID_36446582_RunGenoPhenoCorr.ipynb | 2351 ++++++++---------
.../preprocessing/_phenopacket.py | 30 +-
src/genophenocorr/preprocessing/_phenotype.py | 6 +-
3 files changed, 1184 insertions(+), 1203 deletions(-)
diff --git a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb b/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb
index cb5daa11..aa851192 100644
--- a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb
+++ b/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb
@@ -85,256 +85,258 @@
"name": "stderr",
"output_type": "stream",
"text": [
- "Patients Created: 0%| | 0/328 [00:00, ?it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P2\n",
+ "Patients Created: 0%| | 0/329 [00:00, ?it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P2\n",
- "Patient Novara, 2017_P2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P13\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P13\n",
- "Patient Goldenberg2016_P13 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P13 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Ockeloen2015_P20\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Ockeloen2015_P20\n",
- "Patient Ockeloen2015_P20 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Ockeloen2015_P20 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P22\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P22\n",
- "Patient Kutkowska-Kazmierczak2021_P22 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P22 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Gnazzo,_2020_P31\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Gnazzo,_2020_P31\n",
- "Patient Gnazzo, 2020_P31 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P29\n",
+ "Patient PMID_36446582_Gnazzo,_2020_P31 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 4%|████▎ | 13/329 [00:00<00:03, 98.42it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P29\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P29\n",
- "Patient Goldenberg2016_P29 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P29 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P18\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P18\n",
- "Patient Kutkowska-Kazmierczak2021_P18 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P18 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P1\n",
- "Patient Goldenberg2016_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P33\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P33\n",
- "Patient Goldenberg2016_P33 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P33 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P14\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P14\n",
- "Patient Kutkowska-Kazmierczak2021_P14 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 10%|████████████▏ | 34/328 [00:00<00:00, 338.31it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P15\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P14 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P15\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P15\n",
- "Patient Kutkowska-Kazmierczak2021_P15 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P15 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P32\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P32\n",
- "Patient Goldenberg2016_P32 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P32 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Bucerzan2020\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Bucerzan2020\n",
- "Patient Bucerzan2020 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Bucerzan2020 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P24\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P24\n",
- "Patient Goldenberg2016_P24 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Miyatake,_2013\n",
+ "Patient PMID_36446582_Goldenberg2016_P24 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 14%|██████████████▊ | 45/329 [00:00<00:01, 211.98it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Miyatake,_2013\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Miyatake,_2013\n",
- "Patient Miyatake, 2013 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Miyatake,_2013 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG1\n",
- "Patient KBG1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Sacharow,_2012_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Sacharow,_2012_P2\n",
- "Patient Sacharow, 2012_P2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Sacharow,_2012_P2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P19\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P19\n",
- "Patient Kutkowska-Kazmierczak2021_P19 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P19 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P28\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P28\n",
- "Patient Goldenberg2016_P28 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P28 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Gnazzo,_2020_P30\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Gnazzo,_2020_P30\n",
- "Patient Gnazzo, 2020_P30 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Gnazzo,_2020_P30 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P23\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P23\n",
- "Patient Kutkowska-Kazmierczak2021_P23 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P23 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P11\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P11\n",
- "Patient Novara, 2017_P11 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P12\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P12\n",
- "Patient Goldenberg2016_P12 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P3\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P3\n"
+ "Patient PMID_36446582_Novara,_2017_P11 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P12\n"
]
},
{
"name": "stderr",
"output_type": "stream",
"text": [
- "Patient Novara, 2017_P3 has no variants listed and will not be included in this analysis.\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P12\n",
+ "Patient PMID_36446582_Goldenberg2016_P12 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P3\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P3\n",
+ "Patient PMID_36446582_Novara,_2017_P3 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Khalifa,_2013_P1B\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Khalifa,_2013_P1B\n",
- "Patient Khalifa, 2013_P1B has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Khalifa,_2013_P1B has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Isrie,_2012_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Isrie,_2012_P2\n",
- "Patient Isrie, 2012_P2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Isrie,_2012_P2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P19\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P19\n",
- "Patient Goldenberg2016_P19 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P8\n",
+ "Patient PMID_36446582_Goldenberg2016_P19 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 24%|█████████████████████████▌ | 78/329 [00:00<00:01, 227.87it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P8\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P8\n",
- "Patient Novara, 2017_P8 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P8 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG26\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG26\n",
- "Patient KBG26 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG26 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Scarano,_2013_P11\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Scarano,_2013_P11\n",
- "Patient Scarano, 2013_P11 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Scarano,_2013_P11 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Crippa2015_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Crippa2015_P1\n",
- "Patient Crippa2015_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Crippa2015_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P4\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P4\n",
- "Patient Novara, 2017_P4 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P4 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Parenti2021_P23\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Parenti2021_P23\n",
- "Patient Parenti2021_P23 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 30%|███████████████████████████████████▌ | 99/328 [00:00<00:00, 516.83it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P5\n",
+ "Patient PMID_36446582_Parenti2021_P23 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 33%|███████████████████████████████████▍ | 109/329 [00:00<00:00, 230.34it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P5\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P5\n",
- "Patient Novara, 2017_P5 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P5 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Willemsen2010_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Willemsen2010_P1\n",
- "Patient Willemsen2010_P1 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P22\n",
+ "Patient PMID_36446582_Willemsen2010_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 42%|████████████████████████████████████████████▉ | 138/329 [00:00<00:00, 241.74it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P22\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P22\n",
- "Patient Goldenberg2016_P22 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P22 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Scarano,_2013_P10\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Scarano,_2013_P10\n",
- "Patient Scarano, 2013_P10 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Scarano,_2013_P10 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P9\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P9\n",
- "Patient Novara, 2017_P9 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P9 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P18\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P18\n",
- "Patient Goldenberg2016_P18 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P18 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Willemsen2010_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Willemsen2010_P2\n",
- "Patient Willemsen2010_P2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Willemsen2010_P2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Spengler,_2013\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Spengler,_2013\n",
- "Patient Spengler, 2013 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Youngs2011\n",
+ "Patient PMID_36446582_Spengler,_2013 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 50%|█████████████████████████████████████████████████████ | 163/329 [00:00<00:00, 237.90it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Youngs2011\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Youngs2011\n",
- "Patient Youngs2011 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Youngs2011 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P21\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P21\n",
- "Patient Goldenberg2016_P21 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P21 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Crippa2015_P3\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Crippa2015_P3\n",
- "Patient Crippa2015_P3 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 52%|█████████████████████████████████████████████████████████████▎ | 172/328 [00:00<00:00, 613.12it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Palumbo_2016\n",
+ "Patient PMID_36446582_Crippa2015_P3 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Palumbo_2016\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Palumbo_2016\n",
- "Patient Palumbo 2016 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P7\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P7\n",
- "Patient Novara, 2017_P7 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG9\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_KBG9\n",
- "Patient KBG9 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG25\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_KBG25\n",
- "Patient KBG25 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P4\n",
- "Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P4\n"
+ "Patient PMID_36446582_Palumbo_2016 has no variants listed and will not be included in this analysis.\n"
]
},
{
"name": "stderr",
"output_type": "stream",
"text": [
- "Patient Goldenberg2016_P4 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 60%|████████████████████████████████████████████████████████████████▋ | 199/329 [00:00<00:00, 272.82it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P7\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P7\n",
+ "Patient PMID_36446582_Novara,_2017_P7 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG9\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_KBG9\n",
+ "Patient PMID_36446582_KBG9 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG25\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_KBG25\n",
+ "Patient PMID_36446582_KBG25 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 69%|██████████████████████████████████████████████████████████████████████████▏ | 228/329 [00:00<00:00, 274.91it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P4\n",
+ "Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P4\n",
+ "Patient PMID_36446582_Goldenberg2016_P4 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Scarano,_2013_P12\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Scarano,_2013_P12\n",
- "Patient Scarano, 2013_P12 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Scarano,_2013_P12 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P20\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P20\n",
- "Patient Goldenberg2016_P20 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P20 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Crippa2015_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Crippa2015_P2\n",
- "Patient Crippa2015_P2 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 71%|███████████████████████████████████████████████████████████████████████████████████▍ | 234/328 [00:00<00:00, 413.56it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P36\n",
+ "Patient PMID_36446582_Crippa2015_P2 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P36\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P36\n",
- "Patient Goldenberg2016_P36 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P36 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Willemsen2010_P3\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Willemsen2010_P3\n",
- "Patient Willemsen2010_P3 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Willemsen2010_P3 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Sacharow,_2012_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Sacharow,_2012_P1\n",
- "Patient Sacharow, 2012_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Sacharow,_2012_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Srivastava,_2017_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Srivastava,_2017_P1\n",
- "Patient Srivastava, 2017_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Srivastava,_2017_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P12\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P12\n",
- "Patient Novara, 2017_P12 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P20\n",
+ "Patient PMID_36446582_Novara,_2017_P12 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 79%|████████████████████████████████████████████████████████████████████████████████████▌ | 260/329 [00:01<00:00, 287.37it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P20\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P20\n",
- "Patient Kutkowska-Kazmierczak2021_P20 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P20 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG38\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG38\n",
- "Patient KBG38 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG38 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Isrie,_2012_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Isrie,_2012_P1\n",
- "Patient Isrie, 2012_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Isrie,_2012_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Khalifa,_2013_P1A\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Khalifa,_2013_P1A\n",
- "Patient Khalifa, 2013_P1A has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Khalifa,_2013_P1A has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Willemsen2010_P4\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Willemsen2010_P4\n",
- "Patient Willemsen2010_P4 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Willemsen2010_P4 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Gnazzo,_2020_P29\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Gnazzo,_2020_P29\n",
- "Patient Gnazzo, 2020_P29 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Gnazzo,_2020_P29 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P16\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P16\n",
- "Patient Kutkowska-Kazmierczak2021_P16 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P16 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P3\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P3\n",
- "Patient Goldenberg2016_P3 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P3 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG22\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG22\n",
- "Patient KBG22 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG22 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG2\n",
- "Patient KBG2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Lim2014\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Lim2014\n",
- "Patient Lim2014 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG23\n",
+ "Patient PMID_36446582_Lim2014 has no variants listed and will not be included in this analysis.\n"
+ ]
+ },
+ {
+ "name": "stderr",
+ "output_type": "stream",
+ "text": [
+ "Patients Created: 90%|███████████████████████████████████████████████████████████████████████████████████████████████▉ | 295/329 [00:01<00:00, 305.08it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG23\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG23\n",
- "Patient KBG23 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 90%|█████████████████████████████████████████████████████████████████████████████████████████████████████████▌ | 296/328 [00:00<00:00, 467.96it/s]Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P2\n",
+ "Patient PMID_36446582_KBG23 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P2\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P2\n",
- "Patient Goldenberg2016_P2 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P2 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P26\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P26\n",
- "Patient Goldenberg2016_P26 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P26 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_KBG58\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_KBG58\n",
- "Patient KBG58 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_KBG58 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P17\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P17\n",
- "Patient Kutkowska-Kazmierczak2021_P17 has no variants listed and will not be included in this analysis.\n",
- "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P1\n"
- ]
- },
- {
- "name": "stderr",
- "output_type": "stream",
- "text": [
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P17 has no variants listed and will not be included in this analysis.\n",
+ "Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Novara,_2017_P1\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Novara,_2017_P1\n",
- "Patient Novara, 2017_P1 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Novara,_2017_P1 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Goldenberg2016_P10\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Goldenberg2016_P10\n",
- "Patient Goldenberg2016_P10 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Goldenberg2016_P10 has no variants listed and will not be included in this analysis.\n",
+ "Term HP:000904950 cannot be found in HPO version 2023-10-09. It will be ignored.\n",
+ "Patient PMID_36446582_KBG3_Copy had 1 unknown phenotypes: HP:000904950\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Kutkowska-Kazmierczak2021_P21\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Kutkowska-Kazmierczak2021_P21\n",
- "Patient Kutkowska-Kazmierczak2021_P21 has no variants listed and will not be included in this analysis.\n",
+ "Patient PMID_36446582_Kutkowska-Kazmierczak2021_P21 has no variants listed and will not be included in this analysis.\n",
"Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` but did not find one in patient PMID_36446582_Behnert,_2018\n",
"Expected at least one variant per patient, but received none for patient PMID_36446582_Behnert,_2018\n",
- "Patient Behnert, 2018 has no variants listed and will not be included in this analysis.\n",
- "Patients Created: 100%|█████████████████████████████████████████████████████████████████████████████████████████████████████████████████████| 328/328 [00:00<00:00, 481.81it/s]\n"
+ "Patient PMID_36446582_Behnert,_2018 has no variants listed and will not be included in this analysis.\n",
+ "Patients Created: 100%|███████████████████████████████████████████████████████████████████████████████████████████████████████████| 329/329 [00:01<00:00, 264.78it/s]\n"
]
}
],
@@ -399,10 +401,11 @@
"\n",
"\n",
"Item Description \n",
- "Description of the cohort. \n",
- "Total Individuals 251 \n",
+ "Description of the cohort. 77 individuals were removed from the cohort because they had no HPO terms. \n",
+ "Total Individuals 329 \n",
+ "Excluded Individuals 77: PMID_36446582_KBG58;PMID_36446582_Goldenberg2016_P19;PMID_36446582_Goldenberg2016_P3;PMID_36446582_Parenti2021_P23;PMID_36446582_Goldenberg2016_P26;PMID_36446582_Willemsen2010_P2;PMID_36446582_Novara,_2017_P11;PMID_36446582_Willemsen2010_P4;PMID_36446582_Novara,_2017_P12;PMID_36446582_Goldenberg2016_P13;PMID_36446582_Sacharow,_2012_P1;PMID_36446582_Scarano,_2013_P12;PMID_36446582_Goldenberg2016_P20;PMID_36446582_Goldenberg2016_P21;PMID_36446582_Gnazzo,_2020_P31;PMID_36446582_Bucerzan2020;PMID_36446582_KBG22;PMID_36446582_KBG2;PMID_36446582_Novara,_2017_P4;PMID_36446582_Crippa2015_P2;PMID_36446582_Khalifa,_2013_P1B;PMID_36446582_Gnazzo,_2020_P29;PMID_36446582_Goldenberg2016_P32;PMID_36446582_Kutkowska-Kazmierczak2021_P17;PMID_36446582_Ockeloen2015_P20;PMID_36446582_Kutkowska-Kazmierczak2021_P14;PMID_36446582_Kutkowska-Kazmierczak2021_P16;PMID_36446582_Goldenberg2016_P29;PMID_36446582_KBG25;PMID_36446582_Scarano,_2013_P10;PMID_36446582_Isrie,_2012_P1;PMID_36446582_Goldenberg2016_P2;PMID_36446582_Kutkowska-Kazmierczak2021_P23;PMID_36446582_Youngs2011;PMID_36446582_Goldenberg2016_P10;PMID_36446582_Goldenberg2016_P22;PMID_36446582_Spengler,_2013;PMID_36446582_KBG38;PMID_36446582_Willemsen2010_P1;PMID_36446582_Kutkowska-Kazmierczak2021_P19;PMID_36446582_Scarano,_2013_P11;PMID_36446582_KBG26;PMID_36446582_Novara,_2017_P3;PMID_36446582_Goldenberg2016_P4;PMID_36446582_Behnert,_2018;PMID_36446582_Kutkowska-Kazmierczak2021_P15;PMID_36446582_Kutkowska-Kazmierczak2021_P21;PMID_36446582_Goldenberg2016_P24;PMID_36446582_Isrie,_2012_P2;PMID_36446582_Goldenberg2016_P33;PMID_36446582_Willemsen2010_P3;PMID_36446582_KBG9;PMID_36446582_Palumbo_2016;PMID_36446582_Goldenberg2016_P36;PMID_36446582_Miyatake,_2013;PMID_36446582_Crippa2015_P3;PMID_36446582_Novara,_2017_P7;PMID_36446582_Srivastava,_2017_P1;PMID_36446582_Gnazzo,_2020_P30;PMID_36446582_Goldenberg2016_P1;PMID_36446582_Novara,_2017_P1;PMID_36446582_Goldenberg2016_P12;PMID_36446582_KBG1;PMID_36446582_Kutkowska-Kazmierczak2021_P18;PMID_36446582_Novara,_2017_P2;PMID_36446582_Goldenberg2016_P28;PMID_36446582_Kutkowska-Kazmierczak2021_P22;PMID_36446582_Lim2014;PMID_36446582_Novara,_2017_P8;PMID_36446582_Novara,_2017_P9;PMID_36446582_Goldenberg2016_P18;PMID_36446582_KBG23;PMID_36446582_Sacharow,_2012_P2;PMID_36446582_Kutkowska-Kazmierczak2021_P20;PMID_36446582_Novara,_2017_P5;PMID_36446582_Crippa2015_P1;PMID_36446582_Khalifa,_2013_P1A \n",
"Total Unique HPO Terms 27 \n",
- "Total Unique Variants 251 \n",
+ "Total Unique Variants 252 \n",
"
"
],
"text/plain": [
@@ -461,16 +464,16 @@
"\n",
"\n",
"HPO Term Count \n",
- "Counts of annotations to HPO terms for the 251 in the cohort \n",
+ "Counts of annotations to HPO terms for the 329 in the cohort \n",
"Macrodontia (HP:0001572) 182 \n",
"Intellectual disability (HP:0001249) 159 \n",
"Abnormality of the hand (HP:0001155) 156 \n",
"Global developmental delay (HP:0001263) 133 \n",
"Short stature (HP:0004322) 115 \n",
"Abnormal external nose morphology (HP:0010938) 112 \n",
- "Thick eyebrow (HP:0000574) 105 \n",
+ "Thick eyebrow (HP:0000574) 106 \n",
"Long philtrum (HP:0000343) 103 \n",
- "Hearing impairment (HP:0000365) 74 \n",
+ "Hearing impairment (HP:0000365) 75 \n",
"Triangular face (HP:0000325) 68 \n",
"Abnormality of the outer ear (HP:0000356) 58 \n",
"Attention deficit hyperactivity disorder (HP:0007018) 51 \n",
@@ -535,36 +538,36 @@
"Variant Effect Count Key \n",
"c.1903_1907del FRAMESHIFT_VARIANT 33 16_89284634_89284639_GTGTTT_G \n",
"c.2408_2412del FRAMESHIFT_VARIANT 10 16_89284129_89284134_CTTTTT_C \n",
+ "c.2398_2401del FRAMESHIFT_VARIANT 9 16_89284140_89284144_TTTTC_T \n",
"c.1381_1384del FRAMESHIFT_VARIANT 8 16_89285157_89285161_GTTTC_G \n",
- "c.2398_2401del FRAMESHIFT_VARIANT 8 16_89284140_89284144_TTTTC_T \n",
- "c.6792_6793insC FRAMESHIFT_VARIANT 5 16_89279749_89279749_C_CG \n",
"c.7481_7482insC FRAMESHIFT_VARIANT 5 16_89275180_89275180_A_AG \n",
- "c.2182_2183del FRAMESHIFT_VARIANT 3 16_89284358_89284360_GAT_G \n",
- "c.3832A>T STOP_GAINED 3 16_89282710_89282710_T_A \n",
- "c.2197C>T STOP_GAINED 3 16_89284345_89284345_G_A \n",
+ "c.6792_6793insC FRAMESHIFT_VARIANT 5 16_89279749_89279749_C_CG \n",
"c.7570-1G>C SPLICE_ACCEPTOR_VARIANT 3 16_89274958_89274958_C_G \n",
- "c.3224_3227del FRAMESHIFT_VARIANT 3 16_89283314_89283318_CCTTT_C \n",
- "c.1977C>G STOP_GAINED 3 16_89284565_89284565_G_C \n",
+ "c.3832A>T STOP_GAINED 3 16_89282710_89282710_T_A \n",
"c.2175_2178del FRAMESHIFT_VARIANT 3 16_89284363_89284367_CTTTG_C \n",
"c.4406G>A STOP_GAINED 3 16_89282136_89282136_C_T \n",
- "c.5790C>A STOP_GAINED 2 16_89280752_89280752_G_T \n",
+ "c.1977C>G STOP_GAINED 3 16_89284565_89284565_G_C \n",
+ "c.2197C>T STOP_GAINED 3 16_89284345_89284345_G_A \n",
+ "c.2182_2183del FRAMESHIFT_VARIANT 3 16_89284358_89284360_GAT_G \n",
+ "c.3224_3227del FRAMESHIFT_VARIANT 3 16_89283314_89283318_CCTTT_C \n",
"c.1367_1370del FRAMESHIFT_VARIANT 2 16_89285171_89285175_CTTCT_C \n",
- "c.4384_4385insA FRAMESHIFT_VARIANT 2 16_89282157_89282157_C_CT \n",
- "c.3309_3310insA FRAMESHIFT_VARIANT 2 16_89283232_89283232_C_CT \n",
- "c.2329_2332del FRAMESHIFT_VARIANT 2 16_89284209_89284213_TTCTC_T \n",
- "c.3045del FRAMESHIFT_VARIANT 2 16_89283496_89283497_CG_C \n",
- "c.5488G>T STOP_GAINED 2 16_89281054_89281054_C_A \n",
- "c.3704_3707del FRAMESHIFT_VARIANT 2 16_89282834_89282838_CTGTT_C \n",
+ "c.3590_3594del FRAMESHIFT_VARIANT 2 16_89282947_89282952_CTTTTT_C \n",
"c.1318C>T STOP_GAINED 2 16_89285224_89285224_G_A \n",
+ "c.2329_2332del FRAMESHIFT_VARIANT 2 16_89284209_89284213_TTCTC_T \n",
+ "c.3309_3310insA FRAMESHIFT_VARIANT 2 16_89283232_89283232_C_CT \n",
"c.1385_1388del FRAMESHIFT_VARIANT 2 16_89285153_89285157_TTTTG_T \n",
- "c.4087C>T STOP_GAINED 2 16_89282455_89282455_G_A \n",
"c.7534C>T MISSENSE_VARIANT 2 16_89275128_89275128_G_A \n",
- "c.7216C>T STOP_GAINED 2 16_89279326_89279326_G_A \n",
- "c.3590_3594del FRAMESHIFT_VARIANT 2 16_89282947_89282952_CTTTTT_C \n",
+ "c.5790C>A STOP_GAINED 2 16_89280752_89280752_G_T \n",
+ "c.4087C>T STOP_GAINED 2 16_89282455_89282455_G_A \n",
"c.6513_6514insC FRAMESHIFT_VARIANT 2 16_89280028_89280028_C_CG \n",
+ "c.3704_3707del FRAMESHIFT_VARIANT 2 16_89282834_89282838_CTGTT_C \n",
+ "c.3045del FRAMESHIFT_VARIANT 2 16_89283496_89283497_CG_C \n",
+ "c.4384_4385insA FRAMESHIFT_VARIANT 2 16_89282157_89282157_C_CT \n",
+ "c.7216C>T STOP_GAINED 2 16_89279326_89279326_G_A \n",
+ "c.5488G>T STOP_GAINED 2 16_89281054_89281054_C_A \n",
"
\n",
"Additionally, the following variants were observed 1 or fewer times: \n",
- "c.5274_5275insC; c.2130del; c.5146G>T; c.3123_3126del; c.6015_6016insA; c.4528_4529del; c.6184del; c.3310_3311insG; c.3582del; c.6472G>T; c.2305del; c.211_226+1del; c.2593_2594insT; c.3974del; c.831del; c.7607G>A; c.6682del; c.6691_6692insG; c.3460G>T; c.2765_2766del; c.3448C>T; c.5145C>G; c.2866G>T; c.7000C>T; c.3339G>A; c.3153del; c.6053_6057del; c.4964_4965del; c.4171C>T; c.6628G>T; c.7535G>A; c.2647G>T; c.4558del; c.6409_6410del; c.4374_4375del; c.4283_4286del; c.4206C>G; c.5123C>A; c.1801C>T; c.3334del; c.2828_2829del; c.2512C>T; c.520C>T; c.6817_6833del; c.3221_3222del; c.3591_3594del; c.4391_4392del; c.2751_2752insT; c.1711_1723del; c.2692C>T; c.3771_3772insA; c.7407C>G; c.2297_2300del; c.3180_3181insA; c.3208_3209del; c.4498C>T; c.7356_7357insC; c.4218C>A; c.4107_4108del; c.7192C>T; c.5712_5713insT; c.2395A>T; c.548_551del; c.2650del; c.7552C>T; c.3437_3461del; c.5957_5958del; c.7471A>C; c.3774_3775del; c.1846G>T; c.3222_3223insA; c.1173C>G; c.6766C>T; c.4389_4390del; c.5205del; c.1457C>G; c.3046del; c.5199_5227del; c.7753C>T; c.3193A>T; c.5889del; c.1285_1286del; c.7570_7572del; c.505G>T; c.7180C>T; c.6968_6975del; c.1763C>A; c.7834G>T; c.866_867insA; c.1460_1463del; c.3888_3889insC; c.1940_1941delinsT; c.5953_5954del; c.6340C>T; c.2412del; c.7471-1G>C; c.7416C>G; c.1120G>T; c.6071_6084del; c.1785_1786delinsTT; c.3198_3199del; c.3019C>T; c.7189C>T; c.3770_3771del; c.3931C>T; c.4786G>T; c.7470+2T>C; c.3295_3296del; c.4103_4104del; c.5426_5430del; c.1893_1894insA; c.7363del; c.3905_3906del; c.1731_1732insT; c.5483C>A; c.4177_4189del; c.6364_6367del; c.867C>G; c.2367del; c.915del; c.1389_1390insA; c.6701del; c.3382_3383del; c.4529_4530insC; c.6187G>T; c.4408A>T; c.7411_7422del; c.7083del.
\n",
+ "c.7570_7572del; c.7607G>A; c.1460_1463del; c.5889del; c.5953_5954del; c.3931C>T; c.4528_4529del; c.915del; c.7471-1G>C; c.5146G>T; c.7535G>A; c.211_226+1del; c.1389_1390insA; c.2647G>T; c.4529_4530insC; c.831del; c.6968_6975del; c.2367del; c.3888_3889insC; c.3295_3296del; c.4218C>A; c.3460G>T; c.2512C>T; c.2765_2766del; c.3382_3383del; c.2866G>T; c.520C>T; c.3437_3461del; c.5199_5227del; c.7470+2T>C; c.7552C>T; c.7180C>T; c.3774_3775del; c.6364_6367del; c.5145C>G; c.4408A>T; c.6766C>T; c.3770_3771del; c.6184del; c.3974del; c.1846G>T; c.4171C>T; c.4206C>G; c.5205del; c.1731_1732insT; c.3046del; c.4103_4104del; c.5957_5958del; c.2297_2300del; c.866_867insA; c.2593_2594insT; c.7411_7422del; c.1120G>T; c.3334del; c.6472G>T; c.2751_2752insT; c.7471A>C; c.867C>G; c.7416C>G; c.5426_5430del; c.7000C>T; c.4498C>T; c.3123_3126del; c.6628G>T; c.2650del; c.1801C>T; c.3153del; c.7753C>T; c.7189C>T; c.6187G>T; c.4177_4189del; c.3193A>T; c.548_551del; c.3208_3209del; c.4391_4392del; c.3448C>T; c.3591_3594del; c.6015_6016insA; c.4107_4108del; c.2305del; c.6691_6692insG; c.1285_1286del; c.4374_4375del; c.3771_3772insA; c.3339G>A; c.1893_1894insA; c.505G>T; c.1457C>G; c.6071_6084del; c.6682del; c.1173C>G; c.5123C>A; c.3222_3223insA; c.2412del; c.2692C>T; c.3310_3311insG; c.4283_4286del; c.4786G>T; c.3180_3181insA; c.5483C>A; c.3905_3906del; c.7407C>G; c.7356_7357insC; c.6053_6057del; c.7192C>T; c.4389_4390del; c.6340C>T; c.5712_5713insT; c.3582del; c.1763C>A; c.7363del; c.6409_6410del; c.6817_6833del; c.2828_2829del; c.1711_1723del; c.4964_4965del; c.3019C>T; c.4558del; c.2395A>T; c.7083del; c.1785_1786delinsTT; c.2130del; c.3198_3199del; c.5274_5275insC; c.3221_3222del; c.1940_1941delinsT; c.6701del; c.7834G>T.
\n",
"Use the entry in the \"Key\" column to investigate whether specific variants display genotype-phenotype correlations
"
],
"text/plain": [
@@ -660,414 +663,405 @@
" \n",
" Intellectual disability [HP:0001249] \n",
" 60 \n",
- " 25.210084 \n",
+ " 25.104603 \n",
" 99 \n",
- " 41.596639 \n",
- " 0.000305 \n",
- " 0.008746 \n",
+ " 41.422594 \n",
+ " 0.000298 \n",
+ " 0.008428 \n",
" \n",
" \n",
" Abnormality of mental function [HP:0011446] \n",
" 66 \n",
- " 27.500000 \n",
+ " 27.385892 \n",
" 113 \n",
- " 47.083333 \n",
- " 0.000380 \n",
- " 0.008746 \n",
+ " 46.887967 \n",
+ " 0.000375 \n",
+ " 0.008428 \n",
" \n",
" \n",
" Neurodevelopmental abnormality [HP:0012759] \n",
" 70 \n",
- " 28.925620 \n",
+ " 28.806584 \n",
" 127 \n",
- " 52.479339 \n",
- " 0.001123 \n",
- " 0.017225 \n",
+ " 52.263374 \n",
+ " 0.000713 \n",
+ " 0.010688 \n",
" \n",
" \n",
" Abnormality of the nervous system [HP:0000707] \n",
" 73 \n",
- " 29.918033 \n",
+ " 29.795918 \n",
" 135 \n",
- " 55.327869 \n",
- " 0.003385 \n",
- " 0.029320 \n",
+ " 55.102041 \n",
+ " 0.003406 \n",
+ " 0.028437 \n",
" \n",
" \n",
" Abnormal nervous system physiology [HP:0012638] \n",
" 73 \n",
- " 29.918033 \n",
+ " 29.795918 \n",
" 135 \n",
- " 55.327869 \n",
- " 0.003385 \n",
- " 0.029320 \n",
+ " 55.102041 \n",
+ " 0.003406 \n",
+ " 0.028437 \n",
" \n",
" \n",
- " Global developmental delay [HP:0001263] \n",
+ " Neurodevelopmental delay [HP:0012758] \n",
" 47 \n",
- " 23.039216 \n",
+ " 22.926829 \n",
" 86 \n",
- " 42.156863 \n",
- " 0.005883 \n",
- " 0.029320 \n",
+ " 41.951220 \n",
+ " 0.005774 \n",
+ " 0.028437 \n",
" \n",
" \n",
- " Neurodevelopmental delay [HP:0012758] \n",
+ " Global developmental delay [HP:0001263] \n",
" 47 \n",
- " 23.039216 \n",
+ " 22.926829 \n",
" 86 \n",
- " 42.156863 \n",
- " 0.005883 \n",
- " 0.029320 \n",
+ " 41.951220 \n",
+ " 0.005774 \n",
+ " 0.028437 \n",
" \n",
" \n",
- " Abnormal external nose morphology [HP:0010938] \n",
+ " Abnormal nasal morphology [HP:0005105] \n",
" 42 \n",
- " 19.811321 \n",
+ " 19.718310 \n",
" 70 \n",
- " 33.018868 \n",
- " 0.006374 \n",
- " 0.029320 \n",
+ " 32.863850 \n",
+ " 0.006319 \n",
+ " 0.028437 \n",
" \n",
" \n",
- " Abnormal nasal morphology [HP:0005105] \n",
+ " Abnormality of the nose [HP:0000366] \n",
" 42 \n",
- " 19.811321 \n",
+ " 19.718310 \n",
" 70 \n",
- " 33.018868 \n",
- " 0.006374 \n",
- " 0.029320 \n",
+ " 32.863850 \n",
+ " 0.006319 \n",
+ " 0.028437 \n",
" \n",
" \n",
- " Abnormality of the nose [HP:0000366] \n",
+ " Abnormal external nose morphology [HP:0010938] \n",
" 42 \n",
- " 19.811321 \n",
+ " 19.718310 \n",
" 70 \n",
- " 33.018868 \n",
- " 0.006374 \n",
- " 0.029320 \n",
+ " 32.863850 \n",
+ " 0.006319 \n",
+ " 0.028437 \n",
" \n",
" \n",
" Abnormality of limbs [HP:0040064] \n",
" 56 \n",
- " 23.236515 \n",
+ " 23.140496 \n",
" 100 \n",
- " 41.493776 \n",
- " 0.059191 \n",
- " 0.197563 \n",
+ " 41.322314 \n",
+ " 0.044288 \n",
+ " 0.151111 \n",
" \n",
" \n",
" Abnormality of the upper limb [HP:0002817] \n",
" 56 \n",
- " 23.236515 \n",
+ " 23.140496 \n",
" 100 \n",
- " 41.493776 \n",
- " 0.059191 \n",
- " 0.197563 \n",
+ " 41.322314 \n",
+ " 0.044288 \n",
+ " 0.151111 \n",
" \n",
" \n",
" Abnormality of the hand [HP:0001155] \n",
" 56 \n",
- " 23.236515 \n",
+ " 23.140496 \n",
" 100 \n",
- " 41.493776 \n",
- " 0.059191 \n",
- " 0.197563 \n",
- " \n",
- " \n",
- " Abnormal lip morphology [HP:0000159] \n",
- " 37 \n",
- " 17.129630 \n",
- " 66 \n",
- " 30.555556 \n",
- " 0.073012 \n",
- " 0.197563 \n",
+ " 41.322314 \n",
+ " 0.044288 \n",
+ " 0.151111 \n",
" \n",
" \n",
- " Long philtrum [HP:0000343] \n",
+ " Abnormality of the philtrum [HP:0000288] \n",
" 37 \n",
- " 17.129630 \n",
+ " 17.050691 \n",
" 66 \n",
- " 30.555556 \n",
- " 0.073012 \n",
- " 0.197563 \n",
+ " 30.414747 \n",
+ " 0.053728 \n",
+ " 0.151111 \n",
" \n",
" \n",
- " Abnormality of the philtrum [HP:0000288] \n",
+ " Abnormal upper lip morphology [HP:0000177] \n",
" 37 \n",
- " 17.129630 \n",
+ " 17.050691 \n",
" 66 \n",
- " 30.555556 \n",
- " 0.073012 \n",
- " 0.197563 \n",
+ " 30.414747 \n",
+ " 0.053728 \n",
+ " 0.151111 \n",
" \n",
" \n",
- " Abnormal upper lip morphology [HP:0000177] \n",
+ " Abnormal lip morphology [HP:0000159] \n",
" 37 \n",
- " 17.129630 \n",
+ " 17.050691 \n",
" 66 \n",
- " 30.555556 \n",
- " 0.073012 \n",
- " 0.197563 \n",
+ " 30.414747 \n",
+ " 0.053728 \n",
+ " 0.151111 \n",
" \n",
" \n",
" Abnormal ear morphology [HP:0031703] \n",
" 21 \n",
- " 10.714286 \n",
+ " 10.659898 \n",
" 37 \n",
- " 18.877551 \n",
- " 0.165308 \n",
- " 0.331764 \n",
+ " 18.781726 \n",
+ " 0.123006 \n",
+ " 0.325604 \n",
" \n",
" \n",
- " Abnormality of the orbital region [HP:0000315] \n",
+ " Abnormality of the ocular adnexa [HP:0032039] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
- " Abnormality of the integument [HP:0001574] \n",
+ " Abnormal skin adnexa morphology [HP:0011138] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
- " Abnormality of the ocular adnexa [HP:0032039] \n",
+ " Abnormality of the integument [HP:0001574] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
" Abnormal ocular adnexa morphology [HP:0030669] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
" Abnormal hair morphology [HP:0001595] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
- " Abnormal skin adnexa morphology [HP:0011138] \n",
+ " Abnormality of the orbital region [HP:0000315] \n",
" 36 \n",
- " 17.142857 \n",
- " 69 \n",
- " 32.857143 \n",
- " 0.173094 \n",
- " 0.331764 \n",
+ " 17.061611 \n",
+ " 70 \n",
+ " 33.175355 \n",
+ " 0.173944 \n",
+ " 0.340324 \n",
" \n",
" \n",
" Atypical behavior [HP:0000708] \n",
" 24 \n",
- " 12.631579 \n",
+ " 12.565445 \n",
" 48 \n",
- " 25.263158 \n",
- " 0.243055 \n",
- " 0.415513 \n",
+ " 25.130890 \n",
+ " 0.186939 \n",
+ " 0.350511 \n",
" \n",
" \n",
" Abnormal facial shape [HP:0001999] \n",
" 23 \n",
- " 11.855670 \n",
+ " 11.794872 \n",
" 45 \n",
- " 23.195876 \n",
- " 0.243888 \n",
- " 0.415513 \n",
+ " 23.076923 \n",
+ " 0.242796 \n",
+ " 0.420223 \n",
" \n",
" \n",
" Triangular face [HP:0000325] \n",
" 23 \n",
- " 11.855670 \n",
+ " 11.794872 \n",
" 45 \n",
- " 23.195876 \n",
- " 0.243888 \n",
- " 0.415513 \n",
+ " 23.076923 \n",
+ " 0.242796 \n",
+ " 0.420223 \n",
" \n",
" \n",
- " Short stature [HP:0004322] \n",
+ " Abnormality of body height [HP:0000002] \n",
" 40 \n",
- " 17.467249 \n",
+ " 17.391304 \n",
" 75 \n",
- " 32.751092 \n",
+ " 32.608696 \n",
" 0.319588 \n",
- " 0.474228 \n",
+ " 0.479382 \n",
" \n",
" \n",
- " Abnormality of body height [HP:0000002] \n",
+ " Short stature [HP:0004322] \n",
" 40 \n",
- " 17.467249 \n",
+ " 17.391304 \n",
" 75 \n",
- " 32.751092 \n",
+ " 32.608696 \n",
" 0.319588 \n",
- " 0.474228 \n",
+ " 0.479382 \n",
" \n",
" \n",
- " Growth delay [HP:0001510] \n",
+ " Growth abnormality [HP:0001507] \n",
" 40 \n",
- " 17.467249 \n",
+ " 17.391304 \n",
" 75 \n",
- " 32.751092 \n",
+ " 32.608696 \n",
" 0.319588 \n",
- " 0.474228 \n",
+ " 0.479382 \n",
" \n",
" \n",
- " Growth abnormality [HP:0001507] \n",
+ " Growth delay [HP:0001510] \n",
" 40 \n",
- " 17.467249 \n",
+ " 17.391304 \n",
" 75 \n",
- " 32.751092 \n",
+ " 32.608696 \n",
" 0.319588 \n",
- " 0.474228 \n",
+ " 0.479382 \n",
" \n",
" \n",
" Cognitive impairment [HP:0100543] \n",
" 16 \n",
- " 8.556150 \n",
+ " 8.510638 \n",
" 35 \n",
- " 18.716578 \n",
- " 0.464138 \n",
- " 0.667198 \n",
+ " 18.617021 \n",
+ " 0.462538 \n",
+ " 0.671426 \n",
" \n",
" \n",
- " Phenotypic abnormality [HP:0000118] \n",
+ " All [HP:0000001] \n",
" 80 \n",
- " 31.872510 \n",
- " 168 \n",
- " 66.932271 \n",
- " 0.553478 \n",
- " 0.748823 \n",
+ " 31.746032 \n",
+ " 169 \n",
+ " 67.063492 \n",
+ " 0.553603 \n",
+ " 0.754913 \n",
" \n",
" \n",
- " All [HP:0000001] \n",
+ " Phenotypic abnormality [HP:0000118] \n",
" 80 \n",
- " 31.872510 \n",
- " 168 \n",
- " 66.932271 \n",
- " 0.553478 \n",
- " 0.748823 \n",
+ " 31.746032 \n",
+ " 169 \n",
+ " 67.063492 \n",
+ " 0.553603 \n",
+ " 0.754913 \n",
" \n",
" \n",
- " Abnormality of the ear [HP:0000598] \n",
- " 34 \n",
- " 16.267943 \n",
- " 77 \n",
- " 36.842105 \n",
- " 0.763746 \n",
- " 0.932469 \n",
+ " Abnormal oral morphology [HP:0031816] \n",
+ " 65 \n",
+ " 26.970954 \n",
+ " 140 \n",
+ " 58.091286 \n",
+ " 0.700414 \n",
+ " 0.875518 \n",
" \n",
" \n",
- " Abnormality of head or neck [HP:0000152] \n",
- " 70 \n",
- " 28.925620 \n",
- " 150 \n",
- " 61.983471 \n",
- " 0.811212 \n",
- " 0.932469 \n",
+ " Abnormality of the mouth [HP:0000153] \n",
+ " 65 \n",
+ " 26.970954 \n",
+ " 140 \n",
+ " 58.091286 \n",
+ " 0.700414 \n",
+ " 0.875518 \n",
+ " \n",
+ " \n",
+ " Abnormal oral cavity morphology [HP:0000163] \n",
+ " 65 \n",
+ " 26.970954 \n",
+ " 140 \n",
+ " 58.091286 \n",
+ " 0.700414 \n",
+ " 0.875518 \n",
" \n",
" \n",
" Abnormality of the face [HP:0000271] \n",
" 70 \n",
- " 28.925620 \n",
- " 150 \n",
- " 61.983471 \n",
- " 0.811212 \n",
- " 0.932469 \n",
+ " 28.806584 \n",
+ " 151 \n",
+ " 62.139918 \n",
+ " 0.811361 \n",
+ " 0.936185 \n",
" \n",
" \n",
" Abnormality of the head [HP:0000234] \n",
" 70 \n",
- " 28.925620 \n",
- " 150 \n",
- " 61.983471 \n",
- " 0.811212 \n",
- " 0.932469 \n",
+ " 28.806584 \n",
+ " 151 \n",
+ " 62.139918 \n",
+ " 0.811361 \n",
+ " 0.936185 \n",
" \n",
" \n",
- " Abnormality of the mouth [HP:0000153] \n",
- " 65 \n",
- " 27.083333 \n",
- " 140 \n",
- " 58.333333 \n",
- " 0.844225 \n",
- " 0.932469 \n",
- " \n",
- " \n",
- " Abnormal oral morphology [HP:0031816] \n",
- " 65 \n",
- " 27.083333 \n",
- " 140 \n",
- " 58.333333 \n",
- " 0.844225 \n",
- " 0.932469 \n",
+ " Abnormality of head or neck [HP:0000152] \n",
+ " 70 \n",
+ " 28.806584 \n",
+ " 151 \n",
+ " 62.139918 \n",
+ " 0.811361 \n",
+ " 0.936185 \n",
" \n",
" \n",
- " Abnormal oral cavity morphology [HP:0000163] \n",
- " 65 \n",
- " 27.083333 \n",
- " 140 \n",
- " 58.333333 \n",
- " 0.844225 \n",
- " 0.932469 \n",
+ " Hearing abnormality [HP:0000364] \n",
+ " 22 \n",
+ " 11.055276 \n",
+ " 53 \n",
+ " 26.633166 \n",
+ " 0.872802 \n",
+ " 0.942440 \n",
" \n",
" \n",
" Abnormal ear physiology [HP:0031704] \n",
" 22 \n",
- " 11.111111 \n",
- " 52 \n",
- " 26.262626 \n",
- " 0.871656 \n",
- " 0.932469 \n",
+ " 11.055276 \n",
+ " 53 \n",
+ " 26.633166 \n",
+ " 0.872802 \n",
+ " 0.942440 \n",
" \n",
" \n",
- " Hearing abnormality [HP:0000364] \n",
- " 22 \n",
- " 11.111111 \n",
- " 52 \n",
- " 26.262626 \n",
- " 0.871656 \n",
- " 0.932469 \n",
+ " Abnormality of the ear [HP:0000598] \n",
+ " 34 \n",
+ " 16.190476 \n",
+ " 78 \n",
+ " 37.142857 \n",
+ " 0.879611 \n",
+ " 0.942440 \n",
" \n",
" \n",
" Abnormal dental morphology [HP:0006482] \n",
" 58 \n",
- " 24.576271 \n",
+ " 24.472574 \n",
" 124 \n",
- " 52.542373 \n",
+ " 52.320675 \n",
" 1.000000 \n",
" 1.000000 \n",
" \n",
" \n",
" Abnormality of the dentition [HP:0000164] \n",
" 58 \n",
- " 24.576271 \n",
+ " 24.472574 \n",
" 124 \n",
- " 52.542373 \n",
+ " 52.320675 \n",
" 1.000000 \n",
" 1.000000 \n",
" \n",
" \n",
" Macrodontia [HP:0001572] \n",
" 58 \n",
- " 24.576271 \n",
+ " 24.472574 \n",
" 124 \n",
- " 52.542373 \n",
+ " 52.320675 \n",
" 1.000000 \n",
" 1.000000 \n",
" \n",
@@ -1078,147 +1072,144 @@
"text/plain": [
"FRAMESHIFT_VARIANT on NM_013275.6 No Yes \\\n",
" Count Percent Count \n",
- "Intellectual disability [HP:0001249] 60 25.210084 99 \n",
- "Abnormality of mental function [HP:0011446] 66 27.500000 113 \n",
- "Neurodevelopmental abnormality [HP:0012759] 70 28.925620 127 \n",
- "Abnormality of the nervous system [HP:0000707] 73 29.918033 135 \n",
- "Abnormal nervous system physiology [HP:0012638] 73 29.918033 135 \n",
- "Global developmental delay [HP:0001263] 47 23.039216 86 \n",
- "Neurodevelopmental delay [HP:0012758] 47 23.039216 86 \n",
- "Abnormal external nose morphology [HP:0010938] 42 19.811321 70 \n",
- "Abnormal nasal morphology [HP:0005105] 42 19.811321 70 \n",
- "Abnormality of the nose [HP:0000366] 42 19.811321 70 \n",
- "Abnormality of limbs [HP:0040064] 56 23.236515 100 \n",
- "Abnormality of the upper limb [HP:0002817] 56 23.236515 100 \n",
- "Abnormality of the hand [HP:0001155] 56 23.236515 100 \n",
- "Abnormal lip morphology [HP:0000159] 37 17.129630 66 \n",
- "Long philtrum [HP:0000343] 37 17.129630 66 \n",
- "Abnormality of the philtrum [HP:0000288] 37 17.129630 66 \n",
- "Abnormal upper lip morphology [HP:0000177] 37 17.129630 66 \n",
- "Abnormal ear morphology [HP:0031703] 21 10.714286 37 \n",
- "Abnormality of the orbital region [HP:0000315] 36 17.142857 69 \n",
- "Abnormality of the integument [HP:0001574] 36 17.142857 69 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 36 17.142857 69 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 36 17.142857 69 \n",
- "Abnormal hair morphology [HP:0001595] 36 17.142857 69 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 36 17.142857 69 \n",
- "Atypical behavior [HP:0000708] 24 12.631579 48 \n",
- "Abnormal facial shape [HP:0001999] 23 11.855670 45 \n",
- "Triangular face [HP:0000325] 23 11.855670 45 \n",
- "Short stature [HP:0004322] 40 17.467249 75 \n",
- "Abnormality of body height [HP:0000002] 40 17.467249 75 \n",
- "Growth delay [HP:0001510] 40 17.467249 75 \n",
- "Growth abnormality [HP:0001507] 40 17.467249 75 \n",
- "Cognitive impairment [HP:0100543] 16 8.556150 35 \n",
- "Phenotypic abnormality [HP:0000118] 80 31.872510 168 \n",
- "All [HP:0000001] 80 31.872510 168 \n",
- "Abnormality of the ear [HP:0000598] 34 16.267943 77 \n",
- "Abnormality of head or neck [HP:0000152] 70 28.925620 150 \n",
- "Abnormality of the face [HP:0000271] 70 28.925620 150 \n",
- "Abnormality of the head [HP:0000234] 70 28.925620 150 \n",
- "Abnormality of the mouth [HP:0000153] 65 27.083333 140 \n",
- "Abnormal oral morphology [HP:0031816] 65 27.083333 140 \n",
- "Abnormal oral cavity morphology [HP:0000163] 65 27.083333 140 \n",
- "Abnormal ear physiology [HP:0031704] 22 11.111111 52 \n",
- "Hearing abnormality [HP:0000364] 22 11.111111 52 \n",
- "Abnormal dental morphology [HP:0006482] 58 24.576271 124 \n",
- "Abnormality of the dentition [HP:0000164] 58 24.576271 124 \n",
- "Macrodontia [HP:0001572] 58 24.576271 124 \n",
+ "Intellectual disability [HP:0001249] 60 25.104603 99 \n",
+ "Abnormality of mental function [HP:0011446] 66 27.385892 113 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 70 28.806584 127 \n",
+ "Abnormality of the nervous system [HP:0000707] 73 29.795918 135 \n",
+ "Abnormal nervous system physiology [HP:0012638] 73 29.795918 135 \n",
+ "Neurodevelopmental delay [HP:0012758] 47 22.926829 86 \n",
+ "Global developmental delay [HP:0001263] 47 22.926829 86 \n",
+ "Abnormal nasal morphology [HP:0005105] 42 19.718310 70 \n",
+ "Abnormality of the nose [HP:0000366] 42 19.718310 70 \n",
+ "Abnormal external nose morphology [HP:0010938] 42 19.718310 70 \n",
+ "Abnormality of limbs [HP:0040064] 56 23.140496 100 \n",
+ "Abnormality of the upper limb [HP:0002817] 56 23.140496 100 \n",
+ "Abnormality of the hand [HP:0001155] 56 23.140496 100 \n",
+ "Abnormality of the philtrum [HP:0000288] 37 17.050691 66 \n",
+ "Abnormal upper lip morphology [HP:0000177] 37 17.050691 66 \n",
+ "Abnormal lip morphology [HP:0000159] 37 17.050691 66 \n",
+ "Abnormal ear morphology [HP:0031703] 21 10.659898 37 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 36 17.061611 70 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 36 17.061611 70 \n",
+ "Abnormality of the integument [HP:0001574] 36 17.061611 70 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 36 17.061611 70 \n",
+ "Abnormal hair morphology [HP:0001595] 36 17.061611 70 \n",
+ "Abnormality of the orbital region [HP:0000315] 36 17.061611 70 \n",
+ "Atypical behavior [HP:0000708] 24 12.565445 48 \n",
+ "Abnormal facial shape [HP:0001999] 23 11.794872 45 \n",
+ "Triangular face [HP:0000325] 23 11.794872 45 \n",
+ "Abnormality of body height [HP:0000002] 40 17.391304 75 \n",
+ "Short stature [HP:0004322] 40 17.391304 75 \n",
+ "Growth abnormality [HP:0001507] 40 17.391304 75 \n",
+ "Growth delay [HP:0001510] 40 17.391304 75 \n",
+ "Cognitive impairment [HP:0100543] 16 8.510638 35 \n",
+ "All [HP:0000001] 80 31.746032 169 \n",
+ "Phenotypic abnormality [HP:0000118] 80 31.746032 169 \n",
+ "Abnormal oral morphology [HP:0031816] 65 26.970954 140 \n",
+ "Abnormality of the mouth [HP:0000153] 65 26.970954 140 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 65 26.970954 140 \n",
+ "Abnormality of the face [HP:0000271] 70 28.806584 151 \n",
+ "Abnormality of the head [HP:0000234] 70 28.806584 151 \n",
+ "Abnormality of head or neck [HP:0000152] 70 28.806584 151 \n",
+ "Hearing abnormality [HP:0000364] 22 11.055276 53 \n",
+ "Abnormal ear physiology [HP:0031704] 22 11.055276 53 \n",
+ "Abnormality of the ear [HP:0000598] 34 16.190476 78 \n",
+ "Abnormal dental morphology [HP:0006482] 58 24.472574 124 \n",
+ "Abnormality of the dentition [HP:0000164] 58 24.472574 124 \n",
+ "Macrodontia [HP:0001572] 58 24.472574 124 \n",
"\n",
"FRAMESHIFT_VARIANT on NM_013275.6 \\\n",
" Percent p value \n",
- "Intellectual disability [HP:0001249] 41.596639 0.000305 \n",
- "Abnormality of mental function [HP:0011446] 47.083333 0.000380 \n",
- "Neurodevelopmental abnormality [HP:0012759] 52.479339 0.001123 \n",
- "Abnormality of the nervous system [HP:0000707] 55.327869 0.003385 \n",
- "Abnormal nervous system physiology [HP:0012638] 55.327869 0.003385 \n",
- "Global developmental delay [HP:0001263] 42.156863 0.005883 \n",
- "Neurodevelopmental delay [HP:0012758] 42.156863 0.005883 \n",
- "Abnormal external nose morphology [HP:0010938] 33.018868 0.006374 \n",
- "Abnormal nasal morphology [HP:0005105] 33.018868 0.006374 \n",
- "Abnormality of the nose [HP:0000366] 33.018868 0.006374 \n",
- "Abnormality of limbs [HP:0040064] 41.493776 0.059191 \n",
- "Abnormality of the upper limb [HP:0002817] 41.493776 0.059191 \n",
- "Abnormality of the hand [HP:0001155] 41.493776 0.059191 \n",
- "Abnormal lip morphology [HP:0000159] 30.555556 0.073012 \n",
- "Long philtrum [HP:0000343] 30.555556 0.073012 \n",
- "Abnormality of the philtrum [HP:0000288] 30.555556 0.073012 \n",
- "Abnormal upper lip morphology [HP:0000177] 30.555556 0.073012 \n",
- "Abnormal ear morphology [HP:0031703] 18.877551 0.165308 \n",
- "Abnormality of the orbital region [HP:0000315] 32.857143 0.173094 \n",
- "Abnormality of the integument [HP:0001574] 32.857143 0.173094 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 32.857143 0.173094 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 32.857143 0.173094 \n",
- "Abnormal hair morphology [HP:0001595] 32.857143 0.173094 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 32.857143 0.173094 \n",
- "Atypical behavior [HP:0000708] 25.263158 0.243055 \n",
- "Abnormal facial shape [HP:0001999] 23.195876 0.243888 \n",
- "Triangular face [HP:0000325] 23.195876 0.243888 \n",
- "Short stature [HP:0004322] 32.751092 0.319588 \n",
- "Abnormality of body height [HP:0000002] 32.751092 0.319588 \n",
- "Growth delay [HP:0001510] 32.751092 0.319588 \n",
- "Growth abnormality [HP:0001507] 32.751092 0.319588 \n",
- "Cognitive impairment [HP:0100543] 18.716578 0.464138 \n",
- "Phenotypic abnormality [HP:0000118] 66.932271 0.553478 \n",
- "All [HP:0000001] 66.932271 0.553478 \n",
- "Abnormality of the ear [HP:0000598] 36.842105 0.763746 \n",
- "Abnormality of head or neck [HP:0000152] 61.983471 0.811212 \n",
- "Abnormality of the face [HP:0000271] 61.983471 0.811212 \n",
- "Abnormality of the head [HP:0000234] 61.983471 0.811212 \n",
- "Abnormality of the mouth [HP:0000153] 58.333333 0.844225 \n",
- "Abnormal oral morphology [HP:0031816] 58.333333 0.844225 \n",
- "Abnormal oral cavity morphology [HP:0000163] 58.333333 0.844225 \n",
- "Abnormal ear physiology [HP:0031704] 26.262626 0.871656 \n",
- "Hearing abnormality [HP:0000364] 26.262626 0.871656 \n",
- "Abnormal dental morphology [HP:0006482] 52.542373 1.000000 \n",
- "Abnormality of the dentition [HP:0000164] 52.542373 1.000000 \n",
- "Macrodontia [HP:0001572] 52.542373 1.000000 \n",
+ "Intellectual disability [HP:0001249] 41.422594 0.000298 \n",
+ "Abnormality of mental function [HP:0011446] 46.887967 0.000375 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 52.263374 0.000713 \n",
+ "Abnormality of the nervous system [HP:0000707] 55.102041 0.003406 \n",
+ "Abnormal nervous system physiology [HP:0012638] 55.102041 0.003406 \n",
+ "Neurodevelopmental delay [HP:0012758] 41.951220 0.005774 \n",
+ "Global developmental delay [HP:0001263] 41.951220 0.005774 \n",
+ "Abnormal nasal morphology [HP:0005105] 32.863850 0.006319 \n",
+ "Abnormality of the nose [HP:0000366] 32.863850 0.006319 \n",
+ "Abnormal external nose morphology [HP:0010938] 32.863850 0.006319 \n",
+ "Abnormality of limbs [HP:0040064] 41.322314 0.044288 \n",
+ "Abnormality of the upper limb [HP:0002817] 41.322314 0.044288 \n",
+ "Abnormality of the hand [HP:0001155] 41.322314 0.044288 \n",
+ "Abnormality of the philtrum [HP:0000288] 30.414747 0.053728 \n",
+ "Abnormal upper lip morphology [HP:0000177] 30.414747 0.053728 \n",
+ "Abnormal lip morphology [HP:0000159] 30.414747 0.053728 \n",
+ "Abnormal ear morphology [HP:0031703] 18.781726 0.123006 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 33.175355 0.173944 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 33.175355 0.173944 \n",
+ "Abnormality of the integument [HP:0001574] 33.175355 0.173944 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 33.175355 0.173944 \n",
+ "Abnormal hair morphology [HP:0001595] 33.175355 0.173944 \n",
+ "Abnormality of the orbital region [HP:0000315] 33.175355 0.173944 \n",
+ "Atypical behavior [HP:0000708] 25.130890 0.186939 \n",
+ "Abnormal facial shape [HP:0001999] 23.076923 0.242796 \n",
+ "Triangular face [HP:0000325] 23.076923 0.242796 \n",
+ "Abnormality of body height [HP:0000002] 32.608696 0.319588 \n",
+ "Short stature [HP:0004322] 32.608696 0.319588 \n",
+ "Growth abnormality [HP:0001507] 32.608696 0.319588 \n",
+ "Growth delay [HP:0001510] 32.608696 0.319588 \n",
+ "Cognitive impairment [HP:0100543] 18.617021 0.462538 \n",
+ "All [HP:0000001] 67.063492 0.553603 \n",
+ "Phenotypic abnormality [HP:0000118] 67.063492 0.553603 \n",
+ "Abnormal oral morphology [HP:0031816] 58.091286 0.700414 \n",
+ "Abnormality of the mouth [HP:0000153] 58.091286 0.700414 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 58.091286 0.700414 \n",
+ "Abnormality of the face [HP:0000271] 62.139918 0.811361 \n",
+ "Abnormality of the head [HP:0000234] 62.139918 0.811361 \n",
+ "Abnormality of head or neck [HP:0000152] 62.139918 0.811361 \n",
+ "Hearing abnormality [HP:0000364] 26.633166 0.872802 \n",
+ "Abnormal ear physiology [HP:0031704] 26.633166 0.872802 \n",
+ "Abnormality of the ear [HP:0000598] 37.142857 0.879611 \n",
+ "Abnormal dental morphology [HP:0006482] 52.320675 1.000000 \n",
+ "Abnormality of the dentition [HP:0000164] 52.320675 1.000000 \n",
+ "Macrodontia [HP:0001572] 52.320675 1.000000 \n",
"\n",
"FRAMESHIFT_VARIANT on NM_013275.6 \n",
" Corrected p value \n",
- "Intellectual disability [HP:0001249] 0.008746 \n",
- "Abnormality of mental function [HP:0011446] 0.008746 \n",
- "Neurodevelopmental abnormality [HP:0012759] 0.017225 \n",
- "Abnormality of the nervous system [HP:0000707] 0.029320 \n",
- "Abnormal nervous system physiology [HP:0012638] 0.029320 \n",
- "Global developmental delay [HP:0001263] 0.029320 \n",
- "Neurodevelopmental delay [HP:0012758] 0.029320 \n",
- "Abnormal external nose morphology [HP:0010938] 0.029320 \n",
- "Abnormal nasal morphology [HP:0005105] 0.029320 \n",
- "Abnormality of the nose [HP:0000366] 0.029320 \n",
- "Abnormality of limbs [HP:0040064] 0.197563 \n",
- "Abnormality of the upper limb [HP:0002817] 0.197563 \n",
- "Abnormality of the hand [HP:0001155] 0.197563 \n",
- "Abnormal lip morphology [HP:0000159] 0.197563 \n",
- "Long philtrum [HP:0000343] 0.197563 \n",
- "Abnormality of the philtrum [HP:0000288] 0.197563 \n",
- "Abnormal upper lip morphology [HP:0000177] 0.197563 \n",
- "Abnormal ear morphology [HP:0031703] 0.331764 \n",
- "Abnormality of the orbital region [HP:0000315] 0.331764 \n",
- "Abnormality of the integument [HP:0001574] 0.331764 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 0.331764 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 0.331764 \n",
- "Abnormal hair morphology [HP:0001595] 0.331764 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 0.331764 \n",
- "Atypical behavior [HP:0000708] 0.415513 \n",
- "Abnormal facial shape [HP:0001999] 0.415513 \n",
- "Triangular face [HP:0000325] 0.415513 \n",
- "Short stature [HP:0004322] 0.474228 \n",
- "Abnormality of body height [HP:0000002] 0.474228 \n",
- "Growth delay [HP:0001510] 0.474228 \n",
- "Growth abnormality [HP:0001507] 0.474228 \n",
- "Cognitive impairment [HP:0100543] 0.667198 \n",
- "Phenotypic abnormality [HP:0000118] 0.748823 \n",
- "All [HP:0000001] 0.748823 \n",
- "Abnormality of the ear [HP:0000598] 0.932469 \n",
- "Abnormality of head or neck [HP:0000152] 0.932469 \n",
- "Abnormality of the face [HP:0000271] 0.932469 \n",
- "Abnormality of the head [HP:0000234] 0.932469 \n",
- "Abnormality of the mouth [HP:0000153] 0.932469 \n",
- "Abnormal oral morphology [HP:0031816] 0.932469 \n",
- "Abnormal oral cavity morphology [HP:0000163] 0.932469 \n",
- "Abnormal ear physiology [HP:0031704] 0.932469 \n",
- "Hearing abnormality [HP:0000364] 0.932469 \n",
+ "Intellectual disability [HP:0001249] 0.008428 \n",
+ "Abnormality of mental function [HP:0011446] 0.008428 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 0.010688 \n",
+ "Abnormality of the nervous system [HP:0000707] 0.028437 \n",
+ "Abnormal nervous system physiology [HP:0012638] 0.028437 \n",
+ "Neurodevelopmental delay [HP:0012758] 0.028437 \n",
+ "Global developmental delay [HP:0001263] 0.028437 \n",
+ "Abnormal nasal morphology [HP:0005105] 0.028437 \n",
+ "Abnormality of the nose [HP:0000366] 0.028437 \n",
+ "Abnormal external nose morphology [HP:0010938] 0.028437 \n",
+ "Abnormality of limbs [HP:0040064] 0.151111 \n",
+ "Abnormality of the upper limb [HP:0002817] 0.151111 \n",
+ "Abnormality of the hand [HP:0001155] 0.151111 \n",
+ "Abnormality of the philtrum [HP:0000288] 0.151111 \n",
+ "Abnormal upper lip morphology [HP:0000177] 0.151111 \n",
+ "Abnormal lip morphology [HP:0000159] 0.151111 \n",
+ "Abnormal ear morphology [HP:0031703] 0.325604 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 0.340324 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 0.340324 \n",
+ "Abnormality of the integument [HP:0001574] 0.340324 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 0.340324 \n",
+ "Abnormal hair morphology [HP:0001595] 0.340324 \n",
+ "Abnormality of the orbital region [HP:0000315] 0.340324 \n",
+ "Atypical behavior [HP:0000708] 0.350511 \n",
+ "Abnormal facial shape [HP:0001999] 0.420223 \n",
+ "Triangular face [HP:0000325] 0.420223 \n",
+ "Abnormality of body height [HP:0000002] 0.479382 \n",
+ "Short stature [HP:0004322] 0.479382 \n",
+ "Growth abnormality [HP:0001507] 0.479382 \n",
+ "Growth delay [HP:0001510] 0.479382 \n",
+ "Cognitive impairment [HP:0100543] 0.671426 \n",
+ "All [HP:0000001] 0.754913 \n",
+ "Phenotypic abnormality [HP:0000118] 0.754913 \n",
+ "Abnormal oral morphology [HP:0031816] 0.875518 \n",
+ "Abnormality of the mouth [HP:0000153] 0.875518 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 0.875518 \n",
+ "Abnormality of the face [HP:0000271] 0.936185 \n",
+ "Abnormality of the head [HP:0000234] 0.936185 \n",
+ "Abnormality of head or neck [HP:0000152] 0.936185 \n",
+ "Hearing abnormality [HP:0000364] 0.942440 \n",
+ "Abnormal ear physiology [HP:0031704] 0.942440 \n",
+ "Abnormality of the ear [HP:0000598] 0.942440 \n",
"Abnormal dental morphology [HP:0006482] 1.000000 \n",
"Abnormality of the dentition [HP:0000164] 1.000000 \n",
"Macrodontia [HP:0001572] 1.000000 "
@@ -1289,414 +1280,405 @@
" \n",
" Neurodevelopmental abnormality [HP:0012759] \n",
" 176 \n",
- " 72.727273 \n",
+ " 72.427984 \n",
" 21 \n",
- " 8.677686 \n",
- " 0.007993 \n",
- " 0.169079 \n",
+ " 8.641975 \n",
+ " 0.014389 \n",
+ " 0.174046 \n",
+ " \n",
+ " \n",
+ " Intellectual disability [HP:0001249] \n",
+ " 144 \n",
+ " 60.251046 \n",
+ " 15 \n",
+ " 6.276151 \n",
+ " 0.015381 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Abnormal nervous system physiology [HP:0012638] \n",
" 185 \n",
- " 75.819672 \n",
+ " 75.510204 \n",
" 23 \n",
- " 9.426230 \n",
- " 0.014355 \n",
- " 0.169079 \n",
+ " 9.387755 \n",
+ " 0.016113 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Abnormality of the nervous system [HP:0000707] \n",
" 185 \n",
- " 75.819672 \n",
+ " 75.510204 \n",
" 23 \n",
- " 9.426230 \n",
- " 0.014355 \n",
- " 0.169079 \n",
- " \n",
- " \n",
- " Intellectual disability [HP:0001249] \n",
- " 144 \n",
- " 60.504202 \n",
- " 15 \n",
- " 6.302521 \n",
- " 0.014702 \n",
- " 0.169079 \n",
+ " 9.387755 \n",
+ " 0.016113 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Phenotypic abnormality [HP:0000118] \n",
- " 217 \n",
- " 86.454183 \n",
+ " 218 \n",
+ " 86.507937 \n",
" 31 \n",
- " 12.350598 \n",
- " 0.046296 \n",
- " 0.214567 \n",
+ " 12.301587 \n",
+ " 0.045945 \n",
+ " 0.174046 \n",
" \n",
" \n",
" All [HP:0000001] \n",
- " 217 \n",
- " 86.454183 \n",
+ " 218 \n",
+ " 86.507937 \n",
" 31 \n",
- " 12.350598 \n",
- " 0.046296 \n",
- " 0.214567 \n",
+ " 12.301587 \n",
+ " 0.045945 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Abnormality of mental function [HP:0011446] \n",
" 160 \n",
- " 66.666667 \n",
+ " 66.390041 \n",
" 19 \n",
- " 7.916667 \n",
- " 0.048016 \n",
- " 0.214567 \n",
- " \n",
- " \n",
- " Neurodevelopmental delay [HP:0012758] \n",
- " 119 \n",
- " 58.333333 \n",
- " 14 \n",
- " 6.862745 \n",
- " 0.056706 \n",
- " 0.214567 \n",
- " \n",
- " \n",
- " Global developmental delay [HP:0001263] \n",
- " 119 \n",
- " 58.333333 \n",
- " 14 \n",
- " 6.862745 \n",
- " 0.056706 \n",
- " 0.214567 \n",
+ " 7.883817 \n",
+ " 0.050034 \n",
+ " 0.174046 \n",
" \n",
" \n",
- " Abnormality of the ear [HP:0000598] \n",
- " 101 \n",
- " 48.325359 \n",
+ " Abnormality of the orbital region [HP:0000315] \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.784689 \n",
- " 0.066000 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
- " Abnormality of the ocular adnexa [HP:0032039] \n",
- " 95 \n",
- " 45.238095 \n",
+ " Abnormal ocular adnexa morphology [HP:0030669] \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
- " Abnormality of the orbital region [HP:0000315] \n",
- " 95 \n",
- " 45.238095 \n",
+ " Abnormal hair morphology [HP:0001595] \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Abnormality of the integument [HP:0001574] \n",
- " 95 \n",
- " 45.238095 \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
" Abnormal skin adnexa morphology [HP:0011138] \n",
- " 95 \n",
- " 45.238095 \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
- " Abnormal hair morphology [HP:0001595] \n",
- " 95 \n",
- " 45.238095 \n",
+ " Abnormality of the ocular adnexa [HP:0032039] \n",
+ " 96 \n",
+ " 45.497630 \n",
" 10 \n",
- " 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 4.739336 \n",
+ " 0.050625 \n",
+ " 0.174046 \n",
" \n",
" \n",
- " Abnormal ocular adnexa morphology [HP:0030669] \n",
- " 95 \n",
- " 45.238095 \n",
+ " Global developmental delay [HP:0001263] \n",
+ " 119 \n",
+ " 58.048780 \n",
+ " 14 \n",
+ " 6.829268 \n",
+ " 0.058015 \n",
+ " 0.174046 \n",
+ " \n",
+ " \n",
+ " Neurodevelopmental delay [HP:0012758] \n",
+ " 119 \n",
+ " 58.048780 \n",
+ " 14 \n",
+ " 6.829268 \n",
+ " 0.058015 \n",
+ " 0.174046 \n",
+ " \n",
+ " \n",
+ " Abnormality of the ear [HP:0000598] \n",
+ " 102 \n",
+ " 48.571429 \n",
" 10 \n",
" 4.761905 \n",
- " 0.074632 \n",
- " 0.214567 \n",
+ " 0.065729 \n",
+ " 0.184863 \n",
" \n",
" \n",
- " Abnormality of the face [HP:0000271] \n",
- " 193 \n",
- " 79.752066 \n",
+ " Abnormality of head or neck [HP:0000152] \n",
+ " 194 \n",
+ " 79.835391 \n",
" 27 \n",
- " 11.157025 \n",
- " 0.093495 \n",
- " 0.226357 \n",
+ " 11.111111 \n",
+ " 0.092993 \n",
+ " 0.220246 \n",
" \n",
" \n",
" Abnormality of the head [HP:0000234] \n",
- " 193 \n",
- " 79.752066 \n",
+ " 194 \n",
+ " 79.835391 \n",
" 27 \n",
- " 11.157025 \n",
- " 0.093495 \n",
- " 0.226357 \n",
+ " 11.111111 \n",
+ " 0.092993 \n",
+ " 0.220246 \n",
" \n",
" \n",
- " Abnormality of head or neck [HP:0000152] \n",
- " 193 \n",
- " 79.752066 \n",
+ " Abnormality of the face [HP:0000271] \n",
+ " 194 \n",
+ " 79.835391 \n",
" 27 \n",
- " 11.157025 \n",
- " 0.093495 \n",
- " 0.226357 \n",
+ " 11.111111 \n",
+ " 0.092993 \n",
+ " 0.220246 \n",
" \n",
" \n",
- " Abnormal oral morphology [HP:0031816] \n",
+ " Abnormality of the mouth [HP:0000153] \n",
" 180 \n",
- " 75.000000 \n",
+ " 74.688797 \n",
" 25 \n",
- " 10.416667 \n",
- " 0.109604 \n",
- " 0.229172 \n",
+ " 10.373444 \n",
+ " 0.117228 \n",
+ " 0.239785 \n",
" \n",
" \n",
- " Abnormality of the mouth [HP:0000153] \n",
+ " Abnormal oral cavity morphology [HP:0000163] \n",
" 180 \n",
- " 75.000000 \n",
+ " 74.688797 \n",
" 25 \n",
- " 10.416667 \n",
- " 0.109604 \n",
- " 0.229172 \n",
+ " 10.373444 \n",
+ " 0.117228 \n",
+ " 0.239785 \n",
" \n",
" \n",
- " Abnormal oral cavity morphology [HP:0000163] \n",
+ " Abnormal oral morphology [HP:0031816] \n",
" 180 \n",
- " 75.000000 \n",
+ " 74.688797 \n",
" 25 \n",
- " 10.416667 \n",
- " 0.109604 \n",
- " 0.229172 \n",
+ " 10.373444 \n",
+ " 0.117228 \n",
+ " 0.239785 \n",
" \n",
" \n",
" Abnormal facial shape [HP:0001999] \n",
" 62 \n",
- " 31.958763 \n",
+ " 31.794872 \n",
" 6 \n",
- " 3.092784 \n",
- " 0.134129 \n",
- " 0.257080 \n",
+ " 3.076923 \n",
+ " 0.134696 \n",
+ " 0.252556 \n",
" \n",
" \n",
" Triangular face [HP:0000325] \n",
" 62 \n",
- " 31.958763 \n",
+ " 31.794872 \n",
" 6 \n",
- " 3.092784 \n",
- " 0.134129 \n",
- " 0.257080 \n",
+ " 3.076923 \n",
+ " 0.134696 \n",
+ " 0.252556 \n",
" \n",
" \n",
- " Hearing abnormality [HP:0000364] \n",
- " 67 \n",
- " 33.838384 \n",
+ " Abnormal ear physiology [HP:0031704] \n",
+ " 68 \n",
+ " 34.170854 \n",
" 7 \n",
- " 3.535354 \n",
- " 0.205373 \n",
- " 0.338570 \n",
+ " 3.517588 \n",
+ " 0.147568 \n",
+ " 0.255407 \n",
" \n",
" \n",
- " Abnormal ear physiology [HP:0031704] \n",
- " 67 \n",
- " 33.838384 \n",
+ " Hearing abnormality [HP:0000364] \n",
+ " 68 \n",
+ " 34.170854 \n",
" 7 \n",
- " 3.535354 \n",
- " 0.205373 \n",
- " 0.338570 \n",
+ " 3.517588 \n",
+ " 0.147568 \n",
+ " 0.255407 \n",
" \n",
" \n",
- " Abnormal upper lip morphology [HP:0000177] \n",
+ " Abnormal lip morphology [HP:0000159] \n",
" 92 \n",
- " 42.592593 \n",
+ " 42.396313 \n",
" 11 \n",
- " 5.092593 \n",
- " 0.238468 \n",
- " 0.338570 \n",
+ " 5.069124 \n",
+ " 0.239690 \n",
+ " 0.343181 \n",
" \n",
" \n",
" Abnormality of the philtrum [HP:0000288] \n",
" 92 \n",
- " 42.592593 \n",
- " 11 \n",
- " 5.092593 \n",
- " 0.238468 \n",
- " 0.338570 \n",
- " \n",
- " \n",
- " Long philtrum [HP:0000343] \n",
- " 92 \n",
- " 42.592593 \n",
+ " 42.396313 \n",
" 11 \n",
- " 5.092593 \n",
- " 0.238468 \n",
- " 0.338570 \n",
+ " 5.069124 \n",
+ " 0.239690 \n",
+ " 0.343181 \n",
" \n",
" \n",
- " Abnormal lip morphology [HP:0000159] \n",
+ " Abnormal upper lip morphology [HP:0000177] \n",
" 92 \n",
- " 42.592593 \n",
+ " 42.396313 \n",
" 11 \n",
- " 5.092593 \n",
- " 0.238468 \n",
- " 0.338570 \n",
+ " 5.069124 \n",
+ " 0.239690 \n",
+ " 0.343181 \n",
" \n",
" \n",
- " Abnormality of the nose [HP:0000366] \n",
+ " Abnormal nasal morphology [HP:0005105] \n",
" 99 \n",
- " 46.698113 \n",
+ " 46.478873 \n",
" 13 \n",
- " 6.132075 \n",
- " 0.242887 \n",
- " 0.338570 \n",
+ " 6.103286 \n",
+ " 0.244040 \n",
+ " 0.343181 \n",
" \n",
" \n",
- " Abnormal nasal morphology [HP:0005105] \n",
+ " Abnormality of the nose [HP:0000366] \n",
" 99 \n",
- " 46.698113 \n",
+ " 46.478873 \n",
" 13 \n",
- " 6.132075 \n",
- " 0.242887 \n",
- " 0.338570 \n",
+ " 6.103286 \n",
+ " 0.244040 \n",
+ " 0.343181 \n",
" \n",
" \n",
" Abnormal external nose morphology [HP:0010938] \n",
" 99 \n",
- " 46.698113 \n",
+ " 46.478873 \n",
" 13 \n",
- " 6.132075 \n",
- " 0.242887 \n",
- " 0.338570 \n",
+ " 6.103286 \n",
+ " 0.244040 \n",
+ " 0.343181 \n",
" \n",
" \n",
" Abnormal ear morphology [HP:0031703] \n",
" 52 \n",
- " 26.530612 \n",
+ " 26.395939 \n",
" 6 \n",
- " 3.061224 \n",
- " 0.375674 \n",
- " 0.508265 \n",
+ " 3.045685 \n",
+ " 0.376567 \n",
+ " 0.513501 \n",
" \n",
" \n",
" Atypical behavior [HP:0000708] \n",
" 64 \n",
- " 33.684211 \n",
+ " 33.507853 \n",
" 8 \n",
- " 4.210526 \n",
- " 0.396639 \n",
- " 0.521297 \n",
+ " 4.188482 \n",
+ " 0.398051 \n",
+ " 0.526832 \n",
" \n",
" \n",
- " Growth delay [HP:0001510] \n",
+ " Short stature [HP:0004322] \n",
" 101 \n",
- " 44.104803 \n",
+ " 43.913043 \n",
" 14 \n",
- " 6.113537 \n",
- " 0.452237 \n",
- " 0.533408 \n",
+ " 6.086957 \n",
+ " 0.568154 \n",
+ " 0.672813 \n",
" \n",
" \n",
- " Abnormality of body height [HP:0000002] \n",
+ " Growth abnormality [HP:0001507] \n",
" 101 \n",
- " 44.104803 \n",
+ " 43.913043 \n",
" 14 \n",
- " 6.113537 \n",
- " 0.452237 \n",
- " 0.533408 \n",
+ " 6.086957 \n",
+ " 0.568154 \n",
+ " 0.672813 \n",
" \n",
" \n",
- " Short stature [HP:0004322] \n",
+ " Abnormality of body height [HP:0000002] \n",
" 101 \n",
- " 44.104803 \n",
+ " 43.913043 \n",
" 14 \n",
- " 6.113537 \n",
- " 0.452237 \n",
- " 0.533408 \n",
+ " 6.086957 \n",
+ " 0.568154 \n",
+ " 0.672813 \n",
" \n",
" \n",
- " Growth abnormality [HP:0001507] \n",
+ " Growth delay [HP:0001510] \n",
" 101 \n",
- " 44.104803 \n",
+ " 43.913043 \n",
" 14 \n",
- " 6.113537 \n",
- " 0.452237 \n",
- " 0.533408 \n",
+ " 6.086957 \n",
+ " 0.568154 \n",
+ " 0.672813 \n",
" \n",
" \n",
" Abnormality of the dentition [HP:0000164] \n",
" 159 \n",
- " 67.372881 \n",
+ " 67.088608 \n",
" 23 \n",
- " 9.745763 \n",
- " 0.651760 \n",
- " 0.713833 \n",
+ " 9.704641 \n",
+ " 0.819515 \n",
+ " 0.865969 \n",
" \n",
" \n",
" Abnormal dental morphology [HP:0006482] \n",
" 159 \n",
- " 67.372881 \n",
+ " 67.088608 \n",
" 23 \n",
- " 9.745763 \n",
- " 0.651760 \n",
- " 0.713833 \n",
+ " 9.704641 \n",
+ " 0.819515 \n",
+ " 0.865969 \n",
" \n",
" \n",
" Macrodontia [HP:0001572] \n",
" 159 \n",
- " 67.372881 \n",
+ " 67.088608 \n",
" 23 \n",
- " 9.745763 \n",
- " 0.651760 \n",
- " 0.713833 \n",
+ " 9.704641 \n",
+ " 0.819515 \n",
+ " 0.865969 \n",
" \n",
" \n",
- " Abnormality of limbs [HP:0040064] \n",
+ " Abnormality of the hand [HP:0001155] \n",
" 134 \n",
- " 55.601660 \n",
+ " 55.371901 \n",
" 22 \n",
- " 9.128631 \n",
- " 0.847288 \n",
- " 0.866116 \n",
+ " 9.090909 \n",
+ " 0.846725 \n",
+ " 0.865969 \n",
" \n",
" \n",
" Abnormality of the upper limb [HP:0002817] \n",
" 134 \n",
- " 55.601660 \n",
+ " 55.371901 \n",
" 22 \n",
- " 9.128631 \n",
- " 0.847288 \n",
- " 0.866116 \n",
+ " 9.090909 \n",
+ " 0.846725 \n",
+ " 0.865969 \n",
" \n",
" \n",
- " Abnormality of the hand [HP:0001155] \n",
+ " Abnormality of limbs [HP:0040064] \n",
" 134 \n",
- " 55.601660 \n",
+ " 55.371901 \n",
" 22 \n",
- " 9.128631 \n",
- " 0.847288 \n",
- " 0.866116 \n",
+ " 9.090909 \n",
+ " 0.846725 \n",
+ " 0.865969 \n",
" \n",
" \n",
" Cognitive impairment [HP:0100543] \n",
" 44 \n",
- " 23.529412 \n",
+ " 23.404255 \n",
" 7 \n",
- " 3.743316 \n",
+ " 3.723404 \n",
" 1.000000 \n",
" 1.000000 \n",
" \n",
@@ -1707,198 +1689,194 @@
"text/plain": [
">=1 allele of the variant 16_89284634_89284639_GTGTTT_G No \\\n",
" Count Percent \n",
- "Neurodevelopmental abnormality [HP:0012759] 176 72.727273 \n",
- "Abnormal nervous system physiology [HP:0012638] 185 75.819672 \n",
- "Abnormality of the nervous system [HP:0000707] 185 75.819672 \n",
- "Intellectual disability [HP:0001249] 144 60.504202 \n",
- "Phenotypic abnormality [HP:0000118] 217 86.454183 \n",
- "All [HP:0000001] 217 86.454183 \n",
- "Abnormality of mental function [HP:0011446] 160 66.666667 \n",
- "Neurodevelopmental delay [HP:0012758] 119 58.333333 \n",
- "Global developmental delay [HP:0001263] 119 58.333333 \n",
- "Abnormality of the ear [HP:0000598] 101 48.325359 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 95 45.238095 \n",
- "Abnormality of the orbital region [HP:0000315] 95 45.238095 \n",
- "Abnormality of the integument [HP:0001574] 95 45.238095 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 95 45.238095 \n",
- "Abnormal hair morphology [HP:0001595] 95 45.238095 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 95 45.238095 \n",
- "Abnormality of the face [HP:0000271] 193 79.752066 \n",
- "Abnormality of the head [HP:0000234] 193 79.752066 \n",
- "Abnormality of head or neck [HP:0000152] 193 79.752066 \n",
- "Abnormal oral morphology [HP:0031816] 180 75.000000 \n",
- "Abnormality of the mouth [HP:0000153] 180 75.000000 \n",
- "Abnormal oral cavity morphology [HP:0000163] 180 75.000000 \n",
- "Abnormal facial shape [HP:0001999] 62 31.958763 \n",
- "Triangular face [HP:0000325] 62 31.958763 \n",
- "Hearing abnormality [HP:0000364] 67 33.838384 \n",
- "Abnormal ear physiology [HP:0031704] 67 33.838384 \n",
- "Abnormal upper lip morphology [HP:0000177] 92 42.592593 \n",
- "Abnormality of the philtrum [HP:0000288] 92 42.592593 \n",
- "Long philtrum [HP:0000343] 92 42.592593 \n",
- "Abnormal lip morphology [HP:0000159] 92 42.592593 \n",
- "Abnormality of the nose [HP:0000366] 99 46.698113 \n",
- "Abnormal nasal morphology [HP:0005105] 99 46.698113 \n",
- "Abnormal external nose morphology [HP:0010938] 99 46.698113 \n",
- "Abnormal ear morphology [HP:0031703] 52 26.530612 \n",
- "Atypical behavior [HP:0000708] 64 33.684211 \n",
- "Growth delay [HP:0001510] 101 44.104803 \n",
- "Abnormality of body height [HP:0000002] 101 44.104803 \n",
- "Short stature [HP:0004322] 101 44.104803 \n",
- "Growth abnormality [HP:0001507] 101 44.104803 \n",
- "Abnormality of the dentition [HP:0000164] 159 67.372881 \n",
- "Abnormal dental morphology [HP:0006482] 159 67.372881 \n",
- "Macrodontia [HP:0001572] 159 67.372881 \n",
- "Abnormality of limbs [HP:0040064] 134 55.601660 \n",
- "Abnormality of the upper limb [HP:0002817] 134 55.601660 \n",
- "Abnormality of the hand [HP:0001155] 134 55.601660 \n",
- "Cognitive impairment [HP:0100543] 44 23.529412 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 176 72.427984 \n",
+ "Intellectual disability [HP:0001249] 144 60.251046 \n",
+ "Abnormal nervous system physiology [HP:0012638] 185 75.510204 \n",
+ "Abnormality of the nervous system [HP:0000707] 185 75.510204 \n",
+ "Phenotypic abnormality [HP:0000118] 218 86.507937 \n",
+ "All [HP:0000001] 218 86.507937 \n",
+ "Abnormality of mental function [HP:0011446] 160 66.390041 \n",
+ "Abnormality of the orbital region [HP:0000315] 96 45.497630 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 96 45.497630 \n",
+ "Abnormal hair morphology [HP:0001595] 96 45.497630 \n",
+ "Abnormality of the integument [HP:0001574] 96 45.497630 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 96 45.497630 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 96 45.497630 \n",
+ "Global developmental delay [HP:0001263] 119 58.048780 \n",
+ "Neurodevelopmental delay [HP:0012758] 119 58.048780 \n",
+ "Abnormality of the ear [HP:0000598] 102 48.571429 \n",
+ "Abnormality of head or neck [HP:0000152] 194 79.835391 \n",
+ "Abnormality of the head [HP:0000234] 194 79.835391 \n",
+ "Abnormality of the face [HP:0000271] 194 79.835391 \n",
+ "Abnormality of the mouth [HP:0000153] 180 74.688797 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 180 74.688797 \n",
+ "Abnormal oral morphology [HP:0031816] 180 74.688797 \n",
+ "Abnormal facial shape [HP:0001999] 62 31.794872 \n",
+ "Triangular face [HP:0000325] 62 31.794872 \n",
+ "Abnormal ear physiology [HP:0031704] 68 34.170854 \n",
+ "Hearing abnormality [HP:0000364] 68 34.170854 \n",
+ "Abnormal lip morphology [HP:0000159] 92 42.396313 \n",
+ "Abnormality of the philtrum [HP:0000288] 92 42.396313 \n",
+ "Abnormal upper lip morphology [HP:0000177] 92 42.396313 \n",
+ "Abnormal nasal morphology [HP:0005105] 99 46.478873 \n",
+ "Abnormality of the nose [HP:0000366] 99 46.478873 \n",
+ "Abnormal external nose morphology [HP:0010938] 99 46.478873 \n",
+ "Abnormal ear morphology [HP:0031703] 52 26.395939 \n",
+ "Atypical behavior [HP:0000708] 64 33.507853 \n",
+ "Short stature [HP:0004322] 101 43.913043 \n",
+ "Growth abnormality [HP:0001507] 101 43.913043 \n",
+ "Abnormality of body height [HP:0000002] 101 43.913043 \n",
+ "Growth delay [HP:0001510] 101 43.913043 \n",
+ "Abnormality of the dentition [HP:0000164] 159 67.088608 \n",
+ "Abnormal dental morphology [HP:0006482] 159 67.088608 \n",
+ "Macrodontia [HP:0001572] 159 67.088608 \n",
+ "Abnormality of the hand [HP:0001155] 134 55.371901 \n",
+ "Abnormality of the upper limb [HP:0002817] 134 55.371901 \n",
+ "Abnormality of limbs [HP:0040064] 134 55.371901 \n",
+ "Cognitive impairment [HP:0100543] 44 23.404255 \n",
"\n",
">=1 allele of the variant 16_89284634_89284639_GTGTTT_G Yes \\\n",
" Count Percent \n",
- "Neurodevelopmental abnormality [HP:0012759] 21 8.677686 \n",
- "Abnormal nervous system physiology [HP:0012638] 23 9.426230 \n",
- "Abnormality of the nervous system [HP:0000707] 23 9.426230 \n",
- "Intellectual disability [HP:0001249] 15 6.302521 \n",
- "Phenotypic abnormality [HP:0000118] 31 12.350598 \n",
- "All [HP:0000001] 31 12.350598 \n",
- "Abnormality of mental function [HP:0011446] 19 7.916667 \n",
- "Neurodevelopmental delay [HP:0012758] 14 6.862745 \n",
- "Global developmental delay [HP:0001263] 14 6.862745 \n",
- "Abnormality of the ear [HP:0000598] 10 4.784689 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 10 4.761905 \n",
- "Abnormality of the orbital region [HP:0000315] 10 4.761905 \n",
- "Abnormality of the integument [HP:0001574] 10 4.761905 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 10 4.761905 \n",
- "Abnormal hair morphology [HP:0001595] 10 4.761905 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 10 4.761905 \n",
- "Abnormality of the face [HP:0000271] 27 11.157025 \n",
- "Abnormality of the head [HP:0000234] 27 11.157025 \n",
- "Abnormality of head or neck [HP:0000152] 27 11.157025 \n",
- "Abnormal oral morphology [HP:0031816] 25 10.416667 \n",
- "Abnormality of the mouth [HP:0000153] 25 10.416667 \n",
- "Abnormal oral cavity morphology [HP:0000163] 25 10.416667 \n",
- "Abnormal facial shape [HP:0001999] 6 3.092784 \n",
- "Triangular face [HP:0000325] 6 3.092784 \n",
- "Hearing abnormality [HP:0000364] 7 3.535354 \n",
- "Abnormal ear physiology [HP:0031704] 7 3.535354 \n",
- "Abnormal upper lip morphology [HP:0000177] 11 5.092593 \n",
- "Abnormality of the philtrum [HP:0000288] 11 5.092593 \n",
- "Long philtrum [HP:0000343] 11 5.092593 \n",
- "Abnormal lip morphology [HP:0000159] 11 5.092593 \n",
- "Abnormality of the nose [HP:0000366] 13 6.132075 \n",
- "Abnormal nasal morphology [HP:0005105] 13 6.132075 \n",
- "Abnormal external nose morphology [HP:0010938] 13 6.132075 \n",
- "Abnormal ear morphology [HP:0031703] 6 3.061224 \n",
- "Atypical behavior [HP:0000708] 8 4.210526 \n",
- "Growth delay [HP:0001510] 14 6.113537 \n",
- "Abnormality of body height [HP:0000002] 14 6.113537 \n",
- "Short stature [HP:0004322] 14 6.113537 \n",
- "Growth abnormality [HP:0001507] 14 6.113537 \n",
- "Abnormality of the dentition [HP:0000164] 23 9.745763 \n",
- "Abnormal dental morphology [HP:0006482] 23 9.745763 \n",
- "Macrodontia [HP:0001572] 23 9.745763 \n",
- "Abnormality of limbs [HP:0040064] 22 9.128631 \n",
- "Abnormality of the upper limb [HP:0002817] 22 9.128631 \n",
- "Abnormality of the hand [HP:0001155] 22 9.128631 \n",
- "Cognitive impairment [HP:0100543] 7 3.743316 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 21 8.641975 \n",
+ "Intellectual disability [HP:0001249] 15 6.276151 \n",
+ "Abnormal nervous system physiology [HP:0012638] 23 9.387755 \n",
+ "Abnormality of the nervous system [HP:0000707] 23 9.387755 \n",
+ "Phenotypic abnormality [HP:0000118] 31 12.301587 \n",
+ "All [HP:0000001] 31 12.301587 \n",
+ "Abnormality of mental function [HP:0011446] 19 7.883817 \n",
+ "Abnormality of the orbital region [HP:0000315] 10 4.739336 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 10 4.739336 \n",
+ "Abnormal hair morphology [HP:0001595] 10 4.739336 \n",
+ "Abnormality of the integument [HP:0001574] 10 4.739336 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 10 4.739336 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 10 4.739336 \n",
+ "Global developmental delay [HP:0001263] 14 6.829268 \n",
+ "Neurodevelopmental delay [HP:0012758] 14 6.829268 \n",
+ "Abnormality of the ear [HP:0000598] 10 4.761905 \n",
+ "Abnormality of head or neck [HP:0000152] 27 11.111111 \n",
+ "Abnormality of the head [HP:0000234] 27 11.111111 \n",
+ "Abnormality of the face [HP:0000271] 27 11.111111 \n",
+ "Abnormality of the mouth [HP:0000153] 25 10.373444 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 25 10.373444 \n",
+ "Abnormal oral morphology [HP:0031816] 25 10.373444 \n",
+ "Abnormal facial shape [HP:0001999] 6 3.076923 \n",
+ "Triangular face [HP:0000325] 6 3.076923 \n",
+ "Abnormal ear physiology [HP:0031704] 7 3.517588 \n",
+ "Hearing abnormality [HP:0000364] 7 3.517588 \n",
+ "Abnormal lip morphology [HP:0000159] 11 5.069124 \n",
+ "Abnormality of the philtrum [HP:0000288] 11 5.069124 \n",
+ "Abnormal upper lip morphology [HP:0000177] 11 5.069124 \n",
+ "Abnormal nasal morphology [HP:0005105] 13 6.103286 \n",
+ "Abnormality of the nose [HP:0000366] 13 6.103286 \n",
+ "Abnormal external nose morphology [HP:0010938] 13 6.103286 \n",
+ "Abnormal ear morphology [HP:0031703] 6 3.045685 \n",
+ "Atypical behavior [HP:0000708] 8 4.188482 \n",
+ "Short stature [HP:0004322] 14 6.086957 \n",
+ "Growth abnormality [HP:0001507] 14 6.086957 \n",
+ "Abnormality of body height [HP:0000002] 14 6.086957 \n",
+ "Growth delay [HP:0001510] 14 6.086957 \n",
+ "Abnormality of the dentition [HP:0000164] 23 9.704641 \n",
+ "Abnormal dental morphology [HP:0006482] 23 9.704641 \n",
+ "Macrodontia [HP:0001572] 23 9.704641 \n",
+ "Abnormality of the hand [HP:0001155] 22 9.090909 \n",
+ "Abnormality of the upper limb [HP:0002817] 22 9.090909 \n",
+ "Abnormality of limbs [HP:0040064] 22 9.090909 \n",
+ "Cognitive impairment [HP:0100543] 7 3.723404 \n",
"\n",
">=1 allele of the variant 16_89284634_89284639_GTGTTT_G \\\n",
" p value \n",
- "Neurodevelopmental abnormality [HP:0012759] 0.007993 \n",
- "Abnormal nervous system physiology [HP:0012638] 0.014355 \n",
- "Abnormality of the nervous system [HP:0000707] 0.014355 \n",
- "Intellectual disability [HP:0001249] 0.014702 \n",
- "Phenotypic abnormality [HP:0000118] 0.046296 \n",
- "All [HP:0000001] 0.046296 \n",
- "Abnormality of mental function [HP:0011446] 0.048016 \n",
- "Neurodevelopmental delay [HP:0012758] 0.056706 \n",
- "Global developmental delay [HP:0001263] 0.056706 \n",
- "Abnormality of the ear [HP:0000598] 0.066000 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 0.074632 \n",
- "Abnormality of the orbital region [HP:0000315] 0.074632 \n",
- "Abnormality of the integument [HP:0001574] 0.074632 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 0.074632 \n",
- "Abnormal hair morphology [HP:0001595] 0.074632 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 0.074632 \n",
- "Abnormality of the face [HP:0000271] 0.093495 \n",
- "Abnormality of the head [HP:0000234] 0.093495 \n",
- "Abnormality of head or neck [HP:0000152] 0.093495 \n",
- "Abnormal oral morphology [HP:0031816] 0.109604 \n",
- "Abnormality of the mouth [HP:0000153] 0.109604 \n",
- "Abnormal oral cavity morphology [HP:0000163] 0.109604 \n",
- "Abnormal facial shape [HP:0001999] 0.134129 \n",
- "Triangular face [HP:0000325] 0.134129 \n",
- "Hearing abnormality [HP:0000364] 0.205373 \n",
- "Abnormal ear physiology [HP:0031704] 0.205373 \n",
- "Abnormal upper lip morphology [HP:0000177] 0.238468 \n",
- "Abnormality of the philtrum [HP:0000288] 0.238468 \n",
- "Long philtrum [HP:0000343] 0.238468 \n",
- "Abnormal lip morphology [HP:0000159] 0.238468 \n",
- "Abnormality of the nose [HP:0000366] 0.242887 \n",
- "Abnormal nasal morphology [HP:0005105] 0.242887 \n",
- "Abnormal external nose morphology [HP:0010938] 0.242887 \n",
- "Abnormal ear morphology [HP:0031703] 0.375674 \n",
- "Atypical behavior [HP:0000708] 0.396639 \n",
- "Growth delay [HP:0001510] 0.452237 \n",
- "Abnormality of body height [HP:0000002] 0.452237 \n",
- "Short stature [HP:0004322] 0.452237 \n",
- "Growth abnormality [HP:0001507] 0.452237 \n",
- "Abnormality of the dentition [HP:0000164] 0.651760 \n",
- "Abnormal dental morphology [HP:0006482] 0.651760 \n",
- "Macrodontia [HP:0001572] 0.651760 \n",
- "Abnormality of limbs [HP:0040064] 0.847288 \n",
- "Abnormality of the upper limb [HP:0002817] 0.847288 \n",
- "Abnormality of the hand [HP:0001155] 0.847288 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 0.014389 \n",
+ "Intellectual disability [HP:0001249] 0.015381 \n",
+ "Abnormal nervous system physiology [HP:0012638] 0.016113 \n",
+ "Abnormality of the nervous system [HP:0000707] 0.016113 \n",
+ "Phenotypic abnormality [HP:0000118] 0.045945 \n",
+ "All [HP:0000001] 0.045945 \n",
+ "Abnormality of mental function [HP:0011446] 0.050034 \n",
+ "Abnormality of the orbital region [HP:0000315] 0.050625 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 0.050625 \n",
+ "Abnormal hair morphology [HP:0001595] 0.050625 \n",
+ "Abnormality of the integument [HP:0001574] 0.050625 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 0.050625 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 0.050625 \n",
+ "Global developmental delay [HP:0001263] 0.058015 \n",
+ "Neurodevelopmental delay [HP:0012758] 0.058015 \n",
+ "Abnormality of the ear [HP:0000598] 0.065729 \n",
+ "Abnormality of head or neck [HP:0000152] 0.092993 \n",
+ "Abnormality of the head [HP:0000234] 0.092993 \n",
+ "Abnormality of the face [HP:0000271] 0.092993 \n",
+ "Abnormality of the mouth [HP:0000153] 0.117228 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 0.117228 \n",
+ "Abnormal oral morphology [HP:0031816] 0.117228 \n",
+ "Abnormal facial shape [HP:0001999] 0.134696 \n",
+ "Triangular face [HP:0000325] 0.134696 \n",
+ "Abnormal ear physiology [HP:0031704] 0.147568 \n",
+ "Hearing abnormality [HP:0000364] 0.147568 \n",
+ "Abnormal lip morphology [HP:0000159] 0.239690 \n",
+ "Abnormality of the philtrum [HP:0000288] 0.239690 \n",
+ "Abnormal upper lip morphology [HP:0000177] 0.239690 \n",
+ "Abnormal nasal morphology [HP:0005105] 0.244040 \n",
+ "Abnormality of the nose [HP:0000366] 0.244040 \n",
+ "Abnormal external nose morphology [HP:0010938] 0.244040 \n",
+ "Abnormal ear morphology [HP:0031703] 0.376567 \n",
+ "Atypical behavior [HP:0000708] 0.398051 \n",
+ "Short stature [HP:0004322] 0.568154 \n",
+ "Growth abnormality [HP:0001507] 0.568154 \n",
+ "Abnormality of body height [HP:0000002] 0.568154 \n",
+ "Growth delay [HP:0001510] 0.568154 \n",
+ "Abnormality of the dentition [HP:0000164] 0.819515 \n",
+ "Abnormal dental morphology [HP:0006482] 0.819515 \n",
+ "Macrodontia [HP:0001572] 0.819515 \n",
+ "Abnormality of the hand [HP:0001155] 0.846725 \n",
+ "Abnormality of the upper limb [HP:0002817] 0.846725 \n",
+ "Abnormality of limbs [HP:0040064] 0.846725 \n",
"Cognitive impairment [HP:0100543] 1.000000 \n",
"\n",
">=1 allele of the variant 16_89284634_89284639_GTGTTT_G \n",
" Corrected p value \n",
- "Neurodevelopmental abnormality [HP:0012759] 0.169079 \n",
- "Abnormal nervous system physiology [HP:0012638] 0.169079 \n",
- "Abnormality of the nervous system [HP:0000707] 0.169079 \n",
- "Intellectual disability [HP:0001249] 0.169079 \n",
- "Phenotypic abnormality [HP:0000118] 0.214567 \n",
- "All [HP:0000001] 0.214567 \n",
- "Abnormality of mental function [HP:0011446] 0.214567 \n",
- "Neurodevelopmental delay [HP:0012758] 0.214567 \n",
- "Global developmental delay [HP:0001263] 0.214567 \n",
- "Abnormality of the ear [HP:0000598] 0.214567 \n",
- "Abnormality of the ocular adnexa [HP:0032039] 0.214567 \n",
- "Abnormality of the orbital region [HP:0000315] 0.214567 \n",
- "Abnormality of the integument [HP:0001574] 0.214567 \n",
- "Abnormal skin adnexa morphology [HP:0011138] 0.214567 \n",
- "Abnormal hair morphology [HP:0001595] 0.214567 \n",
- "Abnormal ocular adnexa morphology [HP:0030669] 0.214567 \n",
- "Abnormality of the face [HP:0000271] 0.226357 \n",
- "Abnormality of the head [HP:0000234] 0.226357 \n",
- "Abnormality of head or neck [HP:0000152] 0.226357 \n",
- "Abnormal oral morphology [HP:0031816] 0.229172 \n",
- "Abnormality of the mouth [HP:0000153] 0.229172 \n",
- "Abnormal oral cavity morphology [HP:0000163] 0.229172 \n",
- "Abnormal facial shape [HP:0001999] 0.257080 \n",
- "Triangular face [HP:0000325] 0.257080 \n",
- "Hearing abnormality [HP:0000364] 0.338570 \n",
- "Abnormal ear physiology [HP:0031704] 0.338570 \n",
- "Abnormal upper lip morphology [HP:0000177] 0.338570 \n",
- "Abnormality of the philtrum [HP:0000288] 0.338570 \n",
- "Long philtrum [HP:0000343] 0.338570 \n",
- "Abnormal lip morphology [HP:0000159] 0.338570 \n",
- "Abnormality of the nose [HP:0000366] 0.338570 \n",
- "Abnormal nasal morphology [HP:0005105] 0.338570 \n",
- "Abnormal external nose morphology [HP:0010938] 0.338570 \n",
- "Abnormal ear morphology [HP:0031703] 0.508265 \n",
- "Atypical behavior [HP:0000708] 0.521297 \n",
- "Growth delay [HP:0001510] 0.533408 \n",
- "Abnormality of body height [HP:0000002] 0.533408 \n",
- "Short stature [HP:0004322] 0.533408 \n",
- "Growth abnormality [HP:0001507] 0.533408 \n",
- "Abnormality of the dentition [HP:0000164] 0.713833 \n",
- "Abnormal dental morphology [HP:0006482] 0.713833 \n",
- "Macrodontia [HP:0001572] 0.713833 \n",
- "Abnormality of limbs [HP:0040064] 0.866116 \n",
- "Abnormality of the upper limb [HP:0002817] 0.866116 \n",
- "Abnormality of the hand [HP:0001155] 0.866116 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 0.174046 \n",
+ "Intellectual disability [HP:0001249] 0.174046 \n",
+ "Abnormal nervous system physiology [HP:0012638] 0.174046 \n",
+ "Abnormality of the nervous system [HP:0000707] 0.174046 \n",
+ "Phenotypic abnormality [HP:0000118] 0.174046 \n",
+ "All [HP:0000001] 0.174046 \n",
+ "Abnormality of mental function [HP:0011446] 0.174046 \n",
+ "Abnormality of the orbital region [HP:0000315] 0.174046 \n",
+ "Abnormal ocular adnexa morphology [HP:0030669] 0.174046 \n",
+ "Abnormal hair morphology [HP:0001595] 0.174046 \n",
+ "Abnormality of the integument [HP:0001574] 0.174046 \n",
+ "Abnormal skin adnexa morphology [HP:0011138] 0.174046 \n",
+ "Abnormality of the ocular adnexa [HP:0032039] 0.174046 \n",
+ "Global developmental delay [HP:0001263] 0.174046 \n",
+ "Neurodevelopmental delay [HP:0012758] 0.174046 \n",
+ "Abnormality of the ear [HP:0000598] 0.184863 \n",
+ "Abnormality of head or neck [HP:0000152] 0.220246 \n",
+ "Abnormality of the head [HP:0000234] 0.220246 \n",
+ "Abnormality of the face [HP:0000271] 0.220246 \n",
+ "Abnormality of the mouth [HP:0000153] 0.239785 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 0.239785 \n",
+ "Abnormal oral morphology [HP:0031816] 0.239785 \n",
+ "Abnormal facial shape [HP:0001999] 0.252556 \n",
+ "Triangular face [HP:0000325] 0.252556 \n",
+ "Abnormal ear physiology [HP:0031704] 0.255407 \n",
+ "Hearing abnormality [HP:0000364] 0.255407 \n",
+ "Abnormal lip morphology [HP:0000159] 0.343181 \n",
+ "Abnormality of the philtrum [HP:0000288] 0.343181 \n",
+ "Abnormal upper lip morphology [HP:0000177] 0.343181 \n",
+ "Abnormal nasal morphology [HP:0005105] 0.343181 \n",
+ "Abnormality of the nose [HP:0000366] 0.343181 \n",
+ "Abnormal external nose morphology [HP:0010938] 0.343181 \n",
+ "Abnormal ear morphology [HP:0031703] 0.513501 \n",
+ "Atypical behavior [HP:0000708] 0.526832 \n",
+ "Short stature [HP:0004322] 0.672813 \n",
+ "Growth abnormality [HP:0001507] 0.672813 \n",
+ "Abnormality of body height [HP:0000002] 0.672813 \n",
+ "Growth delay [HP:0001510] 0.672813 \n",
+ "Abnormality of the dentition [HP:0000164] 0.865969 \n",
+ "Abnormal dental morphology [HP:0006482] 0.865969 \n",
+ "Macrodontia [HP:0001572] 0.865969 \n",
+ "Abnormality of the hand [HP:0001155] 0.865969 \n",
+ "Abnormality of the upper limb [HP:0002817] 0.865969 \n",
+ "Abnormality of limbs [HP:0040064] 0.865969 \n",
"Cognitive impairment [HP:0100543] 1.000000 "
]
},
@@ -2010,7 +1988,7 @@
" 1.0 \n",
" \n",
" \n",
- " Hearing abnormality [HP:0000364] \n",
+ " Abnormal ear physiology [HP:0031704] \n",
" 3 \n",
" 8.333333 \n",
" 7 \n",
@@ -2019,7 +1997,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal ear physiology [HP:0031704] \n",
+ " Hearing abnormality [HP:0000364] \n",
" 3 \n",
" 8.333333 \n",
" 7 \n",
@@ -2037,7 +2015,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the hand [HP:0001155] \n",
+ " Abnormality of limbs [HP:0040064] \n",
" 8 \n",
" 18.604651 \n",
" 22 \n",
@@ -2046,7 +2024,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the upper limb [HP:0002817] \n",
+ " Abnormality of the hand [HP:0001155] \n",
" 8 \n",
" 18.604651 \n",
" 22 \n",
@@ -2055,7 +2033,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of limbs [HP:0040064] \n",
+ " Abnormality of the upper limb [HP:0002817] \n",
" 8 \n",
" 18.604651 \n",
" 22 \n",
@@ -2064,7 +2042,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal external nose morphology [HP:0010938] \n",
+ " Abnormality of the nose [HP:0000366] \n",
" 5 \n",
" 12.500000 \n",
" 13 \n",
@@ -2082,7 +2060,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the nose [HP:0000366] \n",
+ " Abnormal external nose morphology [HP:0010938] \n",
" 5 \n",
" 12.500000 \n",
" 13 \n",
@@ -2100,7 +2078,7 @@
" 1.0 \n",
" \n",
" \n",
- " Long philtrum [HP:0000343] \n",
+ " Abnormal upper lip morphology [HP:0000177] \n",
" 4 \n",
" 10.256410 \n",
" 11 \n",
@@ -2109,7 +2087,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal upper lip morphology [HP:0000177] \n",
+ " Abnormality of the philtrum [HP:0000288] \n",
" 4 \n",
" 10.256410 \n",
" 11 \n",
@@ -2118,16 +2096,16 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the philtrum [HP:0000288] \n",
- " 4 \n",
- " 10.256410 \n",
- " 11 \n",
- " 28.205128 \n",
- " 0.711011 \n",
+ " Triangular face [HP:0000325] \n",
+ " 2 \n",
+ " 5.555556 \n",
+ " 6 \n",
+ " 16.666667 \n",
+ " 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal oral cavity morphology [HP:0000163] \n",
+ " Abnormality of the mouth [HP:0000153] \n",
" 8 \n",
" 18.604651 \n",
" 25 \n",
@@ -2136,7 +2114,7 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the mouth [HP:0000153] \n",
+ " Abnormal oral morphology [HP:0031816] \n",
" 8 \n",
" 18.604651 \n",
" 25 \n",
@@ -2145,79 +2123,79 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the dentition [HP:0000164] \n",
+ " Abnormal oral cavity morphology [HP:0000163] \n",
" 8 \n",
- " 19.512195 \n",
- " 23 \n",
- " 56.097561 \n",
+ " 18.604651 \n",
+ " 25 \n",
+ " 58.139535 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Intellectual disability [HP:0001249] \n",
- " 5 \n",
- " 11.904762 \n",
- " 15 \n",
- " 35.714286 \n",
+ " Abnormality of the orbital region [HP:0000315] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the head [HP:0000234] \n",
- " 9 \n",
- " 20.930233 \n",
- " 27 \n",
- " 62.790698 \n",
+ " Abnormality of the integument [HP:0001574] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormality of head or neck [HP:0000152] \n",
- " 9 \n",
- " 20.930233 \n",
- " 27 \n",
- " 62.790698 \n",
+ " Abnormality of the ocular adnexa [HP:0032039] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Triangular face [HP:0000325] \n",
- " 2 \n",
- " 5.555556 \n",
- " 6 \n",
- " 16.666667 \n",
+ " Abnormal skin adnexa morphology [HP:0011138] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal facial shape [HP:0001999] \n",
- " 2 \n",
- " 5.555556 \n",
- " 6 \n",
- " 16.666667 \n",
+ " Abnormal ocular adnexa morphology [HP:0030669] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal dental morphology [HP:0006482] \n",
- " 8 \n",
- " 19.512195 \n",
- " 23 \n",
- " 56.097561 \n",
+ " Abnormal hair morphology [HP:0001595] \n",
+ " 3 \n",
+ " 7.692308 \n",
+ " 10 \n",
+ " 25.641026 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the face [HP:0000271] \n",
- " 9 \n",
- " 20.930233 \n",
- " 27 \n",
- " 62.790698 \n",
+ " All [HP:0000001] \n",
+ " 10 \n",
+ " 23.255814 \n",
+ " 31 \n",
+ " 72.093023 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Macrodontia [HP:0001572] \n",
+ " Abnormality of the dentition [HP:0000164] \n",
" 8 \n",
" 19.512195 \n",
" 23 \n",
@@ -2226,15 +2204,6 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal ear morphology [HP:0031703] \n",
- " 1 \n",
- " 2.777778 \n",
- " 6 \n",
- " 16.666667 \n",
- " 1.000000 \n",
- " 1.0 \n",
- " \n",
- " \n",
" Phenotypic abnormality [HP:0000118] \n",
" 10 \n",
" 23.255814 \n",
@@ -2244,6 +2213,24 @@
" 1.0 \n",
" \n",
" \n",
+ " Abnormality of the head [HP:0000234] \n",
+ " 9 \n",
+ " 20.930233 \n",
+ " 27 \n",
+ " 62.790698 \n",
+ " 1.000000 \n",
+ " 1.0 \n",
+ " \n",
+ " \n",
+ " Abnormality of the face [HP:0000271] \n",
+ " 9 \n",
+ " 20.930233 \n",
+ " 27 \n",
+ " 62.790698 \n",
+ " 1.000000 \n",
+ " 1.0 \n",
+ " \n",
+ " \n",
" Abnormality of the nervous system [HP:0000707] \n",
" 7 \n",
" 16.279070 \n",
@@ -2253,20 +2240,20 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal nervous system physiology [HP:0012638] \n",
- " 7 \n",
- " 16.279070 \n",
- " 23 \n",
- " 53.488372 \n",
+ " Global developmental delay [HP:0001263] \n",
+ " 4 \n",
+ " 10.526316 \n",
+ " 14 \n",
+ " 36.842105 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Neurodevelopmental abnormality [HP:0012759] \n",
- " 6 \n",
- " 13.953488 \n",
- " 21 \n",
- " 48.837209 \n",
+ " Intellectual disability [HP:0001249] \n",
+ " 5 \n",
+ " 11.904762 \n",
+ " 15 \n",
+ " 35.714286 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
@@ -2280,101 +2267,83 @@
" 1.0 \n",
" \n",
" \n",
- " Abnormal oral morphology [HP:0031816] \n",
- " 8 \n",
- " 18.604651 \n",
- " 25 \n",
- " 58.139535 \n",
- " 1.000000 \n",
- " 1.0 \n",
- " \n",
- " \n",
- " Abnormality of the orbital region [HP:0000315] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
- " 1.000000 \n",
- " 1.0 \n",
- " \n",
- " \n",
- " Abnormality of the integument [HP:0001574] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
+ " Neurodevelopmental delay [HP:0012758] \n",
+ " 4 \n",
+ " 10.526316 \n",
+ " 14 \n",
+ " 36.842105 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormality of the ocular adnexa [HP:0032039] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
+ " Abnormal nervous system physiology [HP:0012638] \n",
+ " 7 \n",
+ " 16.279070 \n",
+ " 23 \n",
+ " 53.488372 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal skin adnexa morphology [HP:0011138] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
+ " Macrodontia [HP:0001572] \n",
+ " 8 \n",
+ " 19.512195 \n",
+ " 23 \n",
+ " 56.097561 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal ocular adnexa morphology [HP:0030669] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
+ " Atypical behavior [HP:0000708] \n",
+ " 2 \n",
+ " 5.555556 \n",
+ " 8 \n",
+ " 22.222222 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Abnormal hair morphology [HP:0001595] \n",
- " 3 \n",
- " 7.692308 \n",
- " 10 \n",
- " 25.641026 \n",
+ " Abnormal dental morphology [HP:0006482] \n",
+ " 8 \n",
+ " 19.512195 \n",
+ " 23 \n",
+ " 56.097561 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Neurodevelopmental delay [HP:0012758] \n",
- " 4 \n",
- " 10.526316 \n",
- " 14 \n",
- " 36.842105 \n",
+ " Abnormal ear morphology [HP:0031703] \n",
+ " 1 \n",
+ " 2.777778 \n",
+ " 6 \n",
+ " 16.666667 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Global developmental delay [HP:0001263] \n",
- " 4 \n",
- " 10.526316 \n",
- " 14 \n",
- " 36.842105 \n",
+ " Abnormal facial shape [HP:0001999] \n",
+ " 2 \n",
+ " 5.555556 \n",
+ " 6 \n",
+ " 16.666667 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " All [HP:0000001] \n",
- " 10 \n",
- " 23.255814 \n",
- " 31 \n",
- " 72.093023 \n",
+ " Abnormality of head or neck [HP:0000152] \n",
+ " 9 \n",
+ " 20.930233 \n",
+ " 27 \n",
+ " 62.790698 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
" \n",
- " Atypical behavior [HP:0000708] \n",
- " 2 \n",
- " 5.555556 \n",
- " 8 \n",
- " 22.222222 \n",
+ " Neurodevelopmental abnormality [HP:0012759] \n",
+ " 6 \n",
+ " 13.953488 \n",
+ " 21 \n",
+ " 48.837209 \n",
" 1.000000 \n",
" 1.0 \n",
" \n",
@@ -2390,47 +2359,46 @@
"Abnormality of body height [HP:0000002] 5 \n",
"Growth delay [HP:0001510] 5 \n",
"Growth abnormality [HP:0001507] 5 \n",
- "Hearing abnormality [HP:0000364] 3 \n",
"Abnormal ear physiology [HP:0031704] 3 \n",
+ "Hearing abnormality [HP:0000364] 3 \n",
"Abnormality of the ear [HP:0000598] 4 \n",
+ "Abnormality of limbs [HP:0040064] 8 \n",
"Abnormality of the hand [HP:0001155] 8 \n",
"Abnormality of the upper limb [HP:0002817] 8 \n",
- "Abnormality of limbs [HP:0040064] 8 \n",
- "Abnormal external nose morphology [HP:0010938] 5 \n",
- "Abnormal nasal morphology [HP:0005105] 5 \n",
"Abnormality of the nose [HP:0000366] 5 \n",
+ "Abnormal nasal morphology [HP:0005105] 5 \n",
+ "Abnormal external nose morphology [HP:0010938] 5 \n",
"Abnormal lip morphology [HP:0000159] 4 \n",
- "Long philtrum [HP:0000343] 4 \n",
"Abnormal upper lip morphology [HP:0000177] 4 \n",
"Abnormality of the philtrum [HP:0000288] 4 \n",
- "Abnormal oral cavity morphology [HP:0000163] 8 \n",
- "Abnormality of the mouth [HP:0000153] 8 \n",
- "Abnormality of the dentition [HP:0000164] 8 \n",
- "Intellectual disability [HP:0001249] 5 \n",
- "Abnormality of the head [HP:0000234] 9 \n",
- "Abnormality of head or neck [HP:0000152] 9 \n",
"Triangular face [HP:0000325] 2 \n",
- "Abnormal facial shape [HP:0001999] 2 \n",
- "Abnormal dental morphology [HP:0006482] 8 \n",
- "Abnormality of the face [HP:0000271] 9 \n",
- "Macrodontia [HP:0001572] 8 \n",
- "Abnormal ear morphology [HP:0031703] 1 \n",
- "Phenotypic abnormality [HP:0000118] 10 \n",
- "Abnormality of the nervous system [HP:0000707] 7 \n",
- "Abnormal nervous system physiology [HP:0012638] 7 \n",
- "Neurodevelopmental abnormality [HP:0012759] 6 \n",
- "Abnormality of mental function [HP:0011446] 6 \n",
+ "Abnormality of the mouth [HP:0000153] 8 \n",
"Abnormal oral morphology [HP:0031816] 8 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 8 \n",
"Abnormality of the orbital region [HP:0000315] 3 \n",
"Abnormality of the integument [HP:0001574] 3 \n",
"Abnormality of the ocular adnexa [HP:0032039] 3 \n",
"Abnormal skin adnexa morphology [HP:0011138] 3 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 3 \n",
"Abnormal hair morphology [HP:0001595] 3 \n",
- "Neurodevelopmental delay [HP:0012758] 4 \n",
- "Global developmental delay [HP:0001263] 4 \n",
"All [HP:0000001] 10 \n",
+ "Abnormality of the dentition [HP:0000164] 8 \n",
+ "Phenotypic abnormality [HP:0000118] 10 \n",
+ "Abnormality of the head [HP:0000234] 9 \n",
+ "Abnormality of the face [HP:0000271] 9 \n",
+ "Abnormality of the nervous system [HP:0000707] 7 \n",
+ "Global developmental delay [HP:0001263] 4 \n",
+ "Intellectual disability [HP:0001249] 5 \n",
+ "Abnormality of mental function [HP:0011446] 6 \n",
+ "Neurodevelopmental delay [HP:0012758] 4 \n",
+ "Abnormal nervous system physiology [HP:0012638] 7 \n",
+ "Macrodontia [HP:0001572] 8 \n",
"Atypical behavior [HP:0000708] 2 \n",
+ "Abnormal dental morphology [HP:0006482] 8 \n",
+ "Abnormal ear morphology [HP:0031703] 1 \n",
+ "Abnormal facial shape [HP:0001999] 2 \n",
+ "Abnormality of head or neck [HP:0000152] 9 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 6 \n",
"\n",
">=1 allele of either variant 16_89284129_89284134_CTTTTT_C or variant 16_89284634_89284639_GTGTTT_G \\\n",
" Percent \n",
@@ -2439,47 +2407,46 @@
"Abnormality of body height [HP:0000002] 12.500000 \n",
"Growth delay [HP:0001510] 12.500000 \n",
"Growth abnormality [HP:0001507] 12.500000 \n",
- "Hearing abnormality [HP:0000364] 8.333333 \n",
"Abnormal ear physiology [HP:0031704] 8.333333 \n",
+ "Hearing abnormality [HP:0000364] 8.333333 \n",
"Abnormality of the ear [HP:0000598] 11.111111 \n",
+ "Abnormality of limbs [HP:0040064] 18.604651 \n",
"Abnormality of the hand [HP:0001155] 18.604651 \n",
"Abnormality of the upper limb [HP:0002817] 18.604651 \n",
- "Abnormality of limbs [HP:0040064] 18.604651 \n",
- "Abnormal external nose morphology [HP:0010938] 12.500000 \n",
- "Abnormal nasal morphology [HP:0005105] 12.500000 \n",
"Abnormality of the nose [HP:0000366] 12.500000 \n",
+ "Abnormal nasal morphology [HP:0005105] 12.500000 \n",
+ "Abnormal external nose morphology [HP:0010938] 12.500000 \n",
"Abnormal lip morphology [HP:0000159] 10.256410 \n",
- "Long philtrum [HP:0000343] 10.256410 \n",
"Abnormal upper lip morphology [HP:0000177] 10.256410 \n",
"Abnormality of the philtrum [HP:0000288] 10.256410 \n",
- "Abnormal oral cavity morphology [HP:0000163] 18.604651 \n",
- "Abnormality of the mouth [HP:0000153] 18.604651 \n",
- "Abnormality of the dentition [HP:0000164] 19.512195 \n",
- "Intellectual disability [HP:0001249] 11.904762 \n",
- "Abnormality of the head [HP:0000234] 20.930233 \n",
- "Abnormality of head or neck [HP:0000152] 20.930233 \n",
"Triangular face [HP:0000325] 5.555556 \n",
- "Abnormal facial shape [HP:0001999] 5.555556 \n",
- "Abnormal dental morphology [HP:0006482] 19.512195 \n",
- "Abnormality of the face [HP:0000271] 20.930233 \n",
- "Macrodontia [HP:0001572] 19.512195 \n",
- "Abnormal ear morphology [HP:0031703] 2.777778 \n",
- "Phenotypic abnormality [HP:0000118] 23.255814 \n",
- "Abnormality of the nervous system [HP:0000707] 16.279070 \n",
- "Abnormal nervous system physiology [HP:0012638] 16.279070 \n",
- "Neurodevelopmental abnormality [HP:0012759] 13.953488 \n",
- "Abnormality of mental function [HP:0011446] 14.285714 \n",
+ "Abnormality of the mouth [HP:0000153] 18.604651 \n",
"Abnormal oral morphology [HP:0031816] 18.604651 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 18.604651 \n",
"Abnormality of the orbital region [HP:0000315] 7.692308 \n",
"Abnormality of the integument [HP:0001574] 7.692308 \n",
"Abnormality of the ocular adnexa [HP:0032039] 7.692308 \n",
"Abnormal skin adnexa morphology [HP:0011138] 7.692308 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 7.692308 \n",
"Abnormal hair morphology [HP:0001595] 7.692308 \n",
- "Neurodevelopmental delay [HP:0012758] 10.526316 \n",
- "Global developmental delay [HP:0001263] 10.526316 \n",
"All [HP:0000001] 23.255814 \n",
+ "Abnormality of the dentition [HP:0000164] 19.512195 \n",
+ "Phenotypic abnormality [HP:0000118] 23.255814 \n",
+ "Abnormality of the head [HP:0000234] 20.930233 \n",
+ "Abnormality of the face [HP:0000271] 20.930233 \n",
+ "Abnormality of the nervous system [HP:0000707] 16.279070 \n",
+ "Global developmental delay [HP:0001263] 10.526316 \n",
+ "Intellectual disability [HP:0001249] 11.904762 \n",
+ "Abnormality of mental function [HP:0011446] 14.285714 \n",
+ "Neurodevelopmental delay [HP:0012758] 10.526316 \n",
+ "Abnormal nervous system physiology [HP:0012638] 16.279070 \n",
+ "Macrodontia [HP:0001572] 19.512195 \n",
"Atypical behavior [HP:0000708] 5.555556 \n",
+ "Abnormal dental morphology [HP:0006482] 19.512195 \n",
+ "Abnormal ear morphology [HP:0031703] 2.777778 \n",
+ "Abnormal facial shape [HP:0001999] 5.555556 \n",
+ "Abnormality of head or neck [HP:0000152] 20.930233 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 13.953488 \n",
"\n",
">=1 allele of either variant 16_89284129_89284134_CTTTTT_C or variant 16_89284634_89284639_GTGTTT_G Second \\\n",
" Count \n",
@@ -2488,47 +2455,46 @@
"Abnormality of body height [HP:0000002] 14 \n",
"Growth delay [HP:0001510] 14 \n",
"Growth abnormality [HP:0001507] 14 \n",
- "Hearing abnormality [HP:0000364] 7 \n",
"Abnormal ear physiology [HP:0031704] 7 \n",
+ "Hearing abnormality [HP:0000364] 7 \n",
"Abnormality of the ear [HP:0000598] 10 \n",
+ "Abnormality of limbs [HP:0040064] 22 \n",
"Abnormality of the hand [HP:0001155] 22 \n",
"Abnormality of the upper limb [HP:0002817] 22 \n",
- "Abnormality of limbs [HP:0040064] 22 \n",
- "Abnormal external nose morphology [HP:0010938] 13 \n",
- "Abnormal nasal morphology [HP:0005105] 13 \n",
"Abnormality of the nose [HP:0000366] 13 \n",
+ "Abnormal nasal morphology [HP:0005105] 13 \n",
+ "Abnormal external nose morphology [HP:0010938] 13 \n",
"Abnormal lip morphology [HP:0000159] 11 \n",
- "Long philtrum [HP:0000343] 11 \n",
"Abnormal upper lip morphology [HP:0000177] 11 \n",
"Abnormality of the philtrum [HP:0000288] 11 \n",
- "Abnormal oral cavity morphology [HP:0000163] 25 \n",
- "Abnormality of the mouth [HP:0000153] 25 \n",
- "Abnormality of the dentition [HP:0000164] 23 \n",
- "Intellectual disability [HP:0001249] 15 \n",
- "Abnormality of the head [HP:0000234] 27 \n",
- "Abnormality of head or neck [HP:0000152] 27 \n",
"Triangular face [HP:0000325] 6 \n",
- "Abnormal facial shape [HP:0001999] 6 \n",
- "Abnormal dental morphology [HP:0006482] 23 \n",
- "Abnormality of the face [HP:0000271] 27 \n",
- "Macrodontia [HP:0001572] 23 \n",
- "Abnormal ear morphology [HP:0031703] 6 \n",
- "Phenotypic abnormality [HP:0000118] 31 \n",
- "Abnormality of the nervous system [HP:0000707] 23 \n",
- "Abnormal nervous system physiology [HP:0012638] 23 \n",
- "Neurodevelopmental abnormality [HP:0012759] 21 \n",
- "Abnormality of mental function [HP:0011446] 19 \n",
+ "Abnormality of the mouth [HP:0000153] 25 \n",
"Abnormal oral morphology [HP:0031816] 25 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 25 \n",
"Abnormality of the orbital region [HP:0000315] 10 \n",
"Abnormality of the integument [HP:0001574] 10 \n",
"Abnormality of the ocular adnexa [HP:0032039] 10 \n",
"Abnormal skin adnexa morphology [HP:0011138] 10 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 10 \n",
"Abnormal hair morphology [HP:0001595] 10 \n",
- "Neurodevelopmental delay [HP:0012758] 14 \n",
- "Global developmental delay [HP:0001263] 14 \n",
"All [HP:0000001] 31 \n",
+ "Abnormality of the dentition [HP:0000164] 23 \n",
+ "Phenotypic abnormality [HP:0000118] 31 \n",
+ "Abnormality of the head [HP:0000234] 27 \n",
+ "Abnormality of the face [HP:0000271] 27 \n",
+ "Abnormality of the nervous system [HP:0000707] 23 \n",
+ "Global developmental delay [HP:0001263] 14 \n",
+ "Intellectual disability [HP:0001249] 15 \n",
+ "Abnormality of mental function [HP:0011446] 19 \n",
+ "Neurodevelopmental delay [HP:0012758] 14 \n",
+ "Abnormal nervous system physiology [HP:0012638] 23 \n",
+ "Macrodontia [HP:0001572] 23 \n",
"Atypical behavior [HP:0000708] 8 \n",
+ "Abnormal dental morphology [HP:0006482] 23 \n",
+ "Abnormal ear morphology [HP:0031703] 6 \n",
+ "Abnormal facial shape [HP:0001999] 6 \n",
+ "Abnormality of head or neck [HP:0000152] 27 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 21 \n",
"\n",
">=1 allele of either variant 16_89284129_89284134_CTTTTT_C or variant 16_89284634_89284639_GTGTTT_G \\\n",
" Percent \n",
@@ -2537,47 +2503,46 @@
"Abnormality of body height [HP:0000002] 35.000000 \n",
"Growth delay [HP:0001510] 35.000000 \n",
"Growth abnormality [HP:0001507] 35.000000 \n",
- "Hearing abnormality [HP:0000364] 19.444444 \n",
"Abnormal ear physiology [HP:0031704] 19.444444 \n",
+ "Hearing abnormality [HP:0000364] 19.444444 \n",
"Abnormality of the ear [HP:0000598] 27.777778 \n",
+ "Abnormality of limbs [HP:0040064] 51.162791 \n",
"Abnormality of the hand [HP:0001155] 51.162791 \n",
"Abnormality of the upper limb [HP:0002817] 51.162791 \n",
- "Abnormality of limbs [HP:0040064] 51.162791 \n",
- "Abnormal external nose morphology [HP:0010938] 32.500000 \n",
- "Abnormal nasal morphology [HP:0005105] 32.500000 \n",
"Abnormality of the nose [HP:0000366] 32.500000 \n",
+ "Abnormal nasal morphology [HP:0005105] 32.500000 \n",
+ "Abnormal external nose morphology [HP:0010938] 32.500000 \n",
"Abnormal lip morphology [HP:0000159] 28.205128 \n",
- "Long philtrum [HP:0000343] 28.205128 \n",
"Abnormal upper lip morphology [HP:0000177] 28.205128 \n",
"Abnormality of the philtrum [HP:0000288] 28.205128 \n",
- "Abnormal oral cavity morphology [HP:0000163] 58.139535 \n",
- "Abnormality of the mouth [HP:0000153] 58.139535 \n",
- "Abnormality of the dentition [HP:0000164] 56.097561 \n",
- "Intellectual disability [HP:0001249] 35.714286 \n",
- "Abnormality of the head [HP:0000234] 62.790698 \n",
- "Abnormality of head or neck [HP:0000152] 62.790698 \n",
"Triangular face [HP:0000325] 16.666667 \n",
- "Abnormal facial shape [HP:0001999] 16.666667 \n",
- "Abnormal dental morphology [HP:0006482] 56.097561 \n",
- "Abnormality of the face [HP:0000271] 62.790698 \n",
- "Macrodontia [HP:0001572] 56.097561 \n",
- "Abnormal ear morphology [HP:0031703] 16.666667 \n",
- "Phenotypic abnormality [HP:0000118] 72.093023 \n",
- "Abnormality of the nervous system [HP:0000707] 53.488372 \n",
- "Abnormal nervous system physiology [HP:0012638] 53.488372 \n",
- "Neurodevelopmental abnormality [HP:0012759] 48.837209 \n",
- "Abnormality of mental function [HP:0011446] 45.238095 \n",
+ "Abnormality of the mouth [HP:0000153] 58.139535 \n",
"Abnormal oral morphology [HP:0031816] 58.139535 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 58.139535 \n",
"Abnormality of the orbital region [HP:0000315] 25.641026 \n",
"Abnormality of the integument [HP:0001574] 25.641026 \n",
"Abnormality of the ocular adnexa [HP:0032039] 25.641026 \n",
"Abnormal skin adnexa morphology [HP:0011138] 25.641026 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 25.641026 \n",
"Abnormal hair morphology [HP:0001595] 25.641026 \n",
- "Neurodevelopmental delay [HP:0012758] 36.842105 \n",
- "Global developmental delay [HP:0001263] 36.842105 \n",
"All [HP:0000001] 72.093023 \n",
+ "Abnormality of the dentition [HP:0000164] 56.097561 \n",
+ "Phenotypic abnormality [HP:0000118] 72.093023 \n",
+ "Abnormality of the head [HP:0000234] 62.790698 \n",
+ "Abnormality of the face [HP:0000271] 62.790698 \n",
+ "Abnormality of the nervous system [HP:0000707] 53.488372 \n",
+ "Global developmental delay [HP:0001263] 36.842105 \n",
+ "Intellectual disability [HP:0001249] 35.714286 \n",
+ "Abnormality of mental function [HP:0011446] 45.238095 \n",
+ "Neurodevelopmental delay [HP:0012758] 36.842105 \n",
+ "Abnormal nervous system physiology [HP:0012638] 53.488372 \n",
+ "Macrodontia [HP:0001572] 56.097561 \n",
"Atypical behavior [HP:0000708] 22.222222 \n",
+ "Abnormal dental morphology [HP:0006482] 56.097561 \n",
+ "Abnormal ear morphology [HP:0031703] 16.666667 \n",
+ "Abnormal facial shape [HP:0001999] 16.666667 \n",
+ "Abnormality of head or neck [HP:0000152] 62.790698 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 48.837209 \n",
"\n",
">=1 allele of either variant 16_89284129_89284134_CTTTTT_C or variant 16_89284634_89284639_GTGTTT_G \\\n",
" p value \n",
@@ -2586,47 +2551,46 @@
"Abnormality of body height [HP:0000002] 0.441958 \n",
"Growth delay [HP:0001510] 0.441958 \n",
"Growth abnormality [HP:0001507] 0.441958 \n",
- "Hearing abnormality [HP:0000364] 0.657626 \n",
"Abnormal ear physiology [HP:0031704] 0.657626 \n",
+ "Hearing abnormality [HP:0000364] 0.657626 \n",
"Abnormality of the ear [HP:0000598] 0.683230 \n",
+ "Abnormality of limbs [HP:0040064] 0.696329 \n",
"Abnormality of the hand [HP:0001155] 0.696329 \n",
"Abnormality of the upper limb [HP:0002817] 0.696329 \n",
- "Abnormality of limbs [HP:0040064] 0.696329 \n",
- "Abnormal external nose morphology [HP:0010938] 0.705301 \n",
- "Abnormal nasal morphology [HP:0005105] 0.705301 \n",
"Abnormality of the nose [HP:0000366] 0.705301 \n",
+ "Abnormal nasal morphology [HP:0005105] 0.705301 \n",
+ "Abnormal external nose morphology [HP:0010938] 0.705301 \n",
"Abnormal lip morphology [HP:0000159] 0.711011 \n",
- "Long philtrum [HP:0000343] 0.711011 \n",
"Abnormal upper lip morphology [HP:0000177] 0.711011 \n",
"Abnormality of the philtrum [HP:0000288] 0.711011 \n",
- "Abnormal oral cavity morphology [HP:0000163] 1.000000 \n",
- "Abnormality of the mouth [HP:0000153] 1.000000 \n",
- "Abnormality of the dentition [HP:0000164] 1.000000 \n",
- "Intellectual disability [HP:0001249] 1.000000 \n",
- "Abnormality of the head [HP:0000234] 1.000000 \n",
- "Abnormality of head or neck [HP:0000152] 1.000000 \n",
"Triangular face [HP:0000325] 1.000000 \n",
- "Abnormal facial shape [HP:0001999] 1.000000 \n",
- "Abnormal dental morphology [HP:0006482] 1.000000 \n",
- "Abnormality of the face [HP:0000271] 1.000000 \n",
- "Macrodontia [HP:0001572] 1.000000 \n",
- "Abnormal ear morphology [HP:0031703] 1.000000 \n",
- "Phenotypic abnormality [HP:0000118] 1.000000 \n",
- "Abnormality of the nervous system [HP:0000707] 1.000000 \n",
- "Abnormal nervous system physiology [HP:0012638] 1.000000 \n",
- "Neurodevelopmental abnormality [HP:0012759] 1.000000 \n",
- "Abnormality of mental function [HP:0011446] 1.000000 \n",
+ "Abnormality of the mouth [HP:0000153] 1.000000 \n",
"Abnormal oral morphology [HP:0031816] 1.000000 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 1.000000 \n",
"Abnormality of the orbital region [HP:0000315] 1.000000 \n",
"Abnormality of the integument [HP:0001574] 1.000000 \n",
"Abnormality of the ocular adnexa [HP:0032039] 1.000000 \n",
"Abnormal skin adnexa morphology [HP:0011138] 1.000000 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 1.000000 \n",
"Abnormal hair morphology [HP:0001595] 1.000000 \n",
- "Neurodevelopmental delay [HP:0012758] 1.000000 \n",
- "Global developmental delay [HP:0001263] 1.000000 \n",
"All [HP:0000001] 1.000000 \n",
+ "Abnormality of the dentition [HP:0000164] 1.000000 \n",
+ "Phenotypic abnormality [HP:0000118] 1.000000 \n",
+ "Abnormality of the head [HP:0000234] 1.000000 \n",
+ "Abnormality of the face [HP:0000271] 1.000000 \n",
+ "Abnormality of the nervous system [HP:0000707] 1.000000 \n",
+ "Global developmental delay [HP:0001263] 1.000000 \n",
+ "Intellectual disability [HP:0001249] 1.000000 \n",
+ "Abnormality of mental function [HP:0011446] 1.000000 \n",
+ "Neurodevelopmental delay [HP:0012758] 1.000000 \n",
+ "Abnormal nervous system physiology [HP:0012638] 1.000000 \n",
+ "Macrodontia [HP:0001572] 1.000000 \n",
"Atypical behavior [HP:0000708] 1.000000 \n",
+ "Abnormal dental morphology [HP:0006482] 1.000000 \n",
+ "Abnormal ear morphology [HP:0031703] 1.000000 \n",
+ "Abnormal facial shape [HP:0001999] 1.000000 \n",
+ "Abnormality of head or neck [HP:0000152] 1.000000 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 1.000000 \n",
"\n",
">=1 allele of either variant 16_89284129_89284134_CTTTTT_C or variant 16_89284634_89284639_GTGTTT_G \n",
" Corrected p value \n",
@@ -2635,47 +2599,46 @@
"Abnormality of body height [HP:0000002] 1.0 \n",
"Growth delay [HP:0001510] 1.0 \n",
"Growth abnormality [HP:0001507] 1.0 \n",
- "Hearing abnormality [HP:0000364] 1.0 \n",
"Abnormal ear physiology [HP:0031704] 1.0 \n",
+ "Hearing abnormality [HP:0000364] 1.0 \n",
"Abnormality of the ear [HP:0000598] 1.0 \n",
+ "Abnormality of limbs [HP:0040064] 1.0 \n",
"Abnormality of the hand [HP:0001155] 1.0 \n",
"Abnormality of the upper limb [HP:0002817] 1.0 \n",
- "Abnormality of limbs [HP:0040064] 1.0 \n",
- "Abnormal external nose morphology [HP:0010938] 1.0 \n",
- "Abnormal nasal morphology [HP:0005105] 1.0 \n",
"Abnormality of the nose [HP:0000366] 1.0 \n",
+ "Abnormal nasal morphology [HP:0005105] 1.0 \n",
+ "Abnormal external nose morphology [HP:0010938] 1.0 \n",
"Abnormal lip morphology [HP:0000159] 1.0 \n",
- "Long philtrum [HP:0000343] 1.0 \n",
"Abnormal upper lip morphology [HP:0000177] 1.0 \n",
"Abnormality of the philtrum [HP:0000288] 1.0 \n",
- "Abnormal oral cavity morphology [HP:0000163] 1.0 \n",
- "Abnormality of the mouth [HP:0000153] 1.0 \n",
- "Abnormality of the dentition [HP:0000164] 1.0 \n",
- "Intellectual disability [HP:0001249] 1.0 \n",
- "Abnormality of the head [HP:0000234] 1.0 \n",
- "Abnormality of head or neck [HP:0000152] 1.0 \n",
"Triangular face [HP:0000325] 1.0 \n",
- "Abnormal facial shape [HP:0001999] 1.0 \n",
- "Abnormal dental morphology [HP:0006482] 1.0 \n",
- "Abnormality of the face [HP:0000271] 1.0 \n",
- "Macrodontia [HP:0001572] 1.0 \n",
- "Abnormal ear morphology [HP:0031703] 1.0 \n",
- "Phenotypic abnormality [HP:0000118] 1.0 \n",
- "Abnormality of the nervous system [HP:0000707] 1.0 \n",
- "Abnormal nervous system physiology [HP:0012638] 1.0 \n",
- "Neurodevelopmental abnormality [HP:0012759] 1.0 \n",
- "Abnormality of mental function [HP:0011446] 1.0 \n",
+ "Abnormality of the mouth [HP:0000153] 1.0 \n",
"Abnormal oral morphology [HP:0031816] 1.0 \n",
+ "Abnormal oral cavity morphology [HP:0000163] 1.0 \n",
"Abnormality of the orbital region [HP:0000315] 1.0 \n",
"Abnormality of the integument [HP:0001574] 1.0 \n",
"Abnormality of the ocular adnexa [HP:0032039] 1.0 \n",
"Abnormal skin adnexa morphology [HP:0011138] 1.0 \n",
"Abnormal ocular adnexa morphology [HP:0030669] 1.0 \n",
"Abnormal hair morphology [HP:0001595] 1.0 \n",
- "Neurodevelopmental delay [HP:0012758] 1.0 \n",
- "Global developmental delay [HP:0001263] 1.0 \n",
"All [HP:0000001] 1.0 \n",
- "Atypical behavior [HP:0000708] 1.0 "
+ "Abnormality of the dentition [HP:0000164] 1.0 \n",
+ "Phenotypic abnormality [HP:0000118] 1.0 \n",
+ "Abnormality of the head [HP:0000234] 1.0 \n",
+ "Abnormality of the face [HP:0000271] 1.0 \n",
+ "Abnormality of the nervous system [HP:0000707] 1.0 \n",
+ "Global developmental delay [HP:0001263] 1.0 \n",
+ "Intellectual disability [HP:0001249] 1.0 \n",
+ "Abnormality of mental function [HP:0011446] 1.0 \n",
+ "Neurodevelopmental delay [HP:0012758] 1.0 \n",
+ "Abnormal nervous system physiology [HP:0012638] 1.0 \n",
+ "Macrodontia [HP:0001572] 1.0 \n",
+ "Atypical behavior [HP:0000708] 1.0 \n",
+ "Abnormal dental morphology [HP:0006482] 1.0 \n",
+ "Abnormal ear morphology [HP:0031703] 1.0 \n",
+ "Abnormal facial shape [HP:0001999] 1.0 \n",
+ "Abnormality of head or neck [HP:0000152] 1.0 \n",
+ "Neurodevelopmental abnormality [HP:0012759] 1.0 "
]
},
"execution_count": 19,
diff --git a/src/genophenocorr/preprocessing/_phenopacket.py b/src/genophenocorr/preprocessing/_phenopacket.py
index 57ca2de7..da03c3cf 100644
--- a/src/genophenocorr/preprocessing/_phenopacket.py
+++ b/src/genophenocorr/preprocessing/_phenopacket.py
@@ -50,6 +50,9 @@ def find_coordinates(self, item: GenomicInterpretation) -> typing.Tuple[VariantC
vc = None
if self._vcf_is_available(variant_descriptor.vcf_record):
# We have a VCF record.
+ if not self._check_assembly(variant_descriptor.vcf_record.genome_assembly):
+ raise ValueError(f"Variant id {variant_descriptor.id} for patient {item.subject_or_biosample_id} has a different Genome Assembly than what was given. " \
+ + f"{variant_descriptor.vcf_record.genome_assembly} is not {self._build.identifier}.")
contig = self._build.contig_by_name(variant_descriptor.vcf_record.chrom)
start = int(variant_descriptor.vcf_record.pos) - 1
ref = variant_descriptor.vcf_record.ref
@@ -93,6 +96,15 @@ def find_coordinates(self, item: GenomicInterpretation) -> typing.Tuple[VariantC
return vc, gt
+ def _check_assembly(self, genome_assembly:str) -> bool:
+ if '38' in genome_assembly and self._build.identifier == 'GRCh38.p13':
+ return True
+ elif ('37' in genome_assembly or '19' in genome_assembly) and self._build.identifier == 'GRCh37.p13':
+ return True
+ else:
+ return False
+
+
@staticmethod
def _vcf_is_available(vcf_record) -> bool:
"""
@@ -152,13 +164,7 @@ def create_patient(self, item: Phenopacket) -> Patient:
"""
sample_id = self._extract_id(item)
phenotypes = self._add_phenotypes(item)
- if len(phenotypes) == 0:
- self._logger.warning('Patient %s has no phenotypes listed and will not be included in this analysis.', sample_id)
- return None
variants = self._add_variants(sample_id, item)
- if len(variants) == 0:
- self._logger.warning('Patient %s has no variants listed and will not be included in this analysis.', sample_id)
- return None
protein_data = self._add_protein_data(variants)
return Patient(item.id, phenotypes, variants, protein_data)
@@ -216,7 +222,10 @@ def _add_phenotypes(self, pp: Phenopacket) -> typing.Sequence[Phenotype]:
if len(hpo_id_list) == 0:
self._logger.warning(f'Expected at least one HPO term per patient, but received none for patient {pp.id}')
return []
- return self._phenotype_creator.create_phenotype(hpo_id_list)
+ phenotypes, ignored_phenotypes = self._phenotype_creator.create_phenotype(hpo_id_list)
+ if len(ignored_phenotypes) != 0:
+ self._logger.warning("Patient %s had %i unknown phenotypes: %s", pp.id, len(ignored_phenotypes), ', '.join(ignored_phenotypes))
+ return phenotypes
def _add_protein_data(self, variants: typing.Sequence[Variant]) -> typing.Collection[ProteinMetadata]:
"""Creates a list of ProteinMetadata objects from a given list of Variant objects
@@ -236,6 +245,7 @@ def _add_protein_data(self, variants: typing.Sequence[Variant]) -> typing.Collec
def load_phenopacket_folder(pp_directory: str,
patient_creator: PhenopacketPatientCreator,
+ #policy:str = "strict/lenient/etc",
include_patients_with_no_HPO: bool = False) -> Cohort:
"""
Creates a Patient object for each phenopacket formatted JSON file in the given directory `pp_directory`.
@@ -245,6 +255,7 @@ def load_phenopacket_folder(pp_directory: str,
:param patient_creator: patient creator for turning a phenopacket into a :class:`genophenocorr.Patient`
:return: a cohort made of the phenopackets
"""
+ ## NOTE: Strict would stop code at error vs lenient would just print error but continue.
if not os.path.isdir(pp_directory):
raise ValueError("Could not find directory of Phenopackets.")
hpotk.util.validate_instance(patient_creator, PhenopacketPatientCreator, 'patient_creator')
@@ -258,6 +269,10 @@ def load_phenopacket_folder(pp_directory: str,
patients = []
for pp in tqdm(pps, desc='Patients Created'):
patient = patient_creator.create_patient(pp)
+ if len(patient.phenotypes) == 0:
+ patient_creator._logger.warning('Patient %s has no phenotypes listed and will not be included in this analysis.', patient.patient_id)
+ if len(patient.variants) == 0:
+ patient_creator._logger.warning('Patient %s has no variants listed and will not be included in this analysis.', patient.patient_id)
if patient is not None:
patients.append(patient)
@@ -283,3 +298,4 @@ def load_phenopacket(phenopacket_path: str) -> Phenopacket:
"""
with open(phenopacket_path) as f:
return Parse(f.read(), Phenopacket())
+
diff --git a/src/genophenocorr/preprocessing/_phenotype.py b/src/genophenocorr/preprocessing/_phenotype.py
index cb226e54..f5d1b631 100644
--- a/src/genophenocorr/preprocessing/_phenotype.py
+++ b/src/genophenocorr/preprocessing/_phenotype.py
@@ -34,7 +34,7 @@ def __init__(self, hpo: hpotk.MinimalOntology,
self._hpo = hpotk.util.validate_instance(hpo, hpotk.MinimalOntology, 'hpo')
self._validator = hpotk.util.validate_instance(validator, hpotk.validate.ValidationRunner, 'validator')
- def create_phenotype(self, term_ids: typing.Iterable[typing.Tuple[str, bool]]) -> typing.Sequence[Phenotype]:
+ def create_phenotype(self, term_ids: typing.Iterable[typing.Tuple[str, bool]]) -> typing.Tuple[typing.Sequence[Phenotype], typing.Sequence[str]]:
"""Creates a list of Phenotype objects from term IDs and checks if the term IDs satisfy the validation requirements.
Args:
@@ -45,15 +45,17 @@ def create_phenotype(self, term_ids: typing.Iterable[typing.Tuple[str, bool]]) -
PhenotypeValidationException: An instance of an issue with the ValidationRunner
"""
terms = []
+ ignored_terms = []
for term_id, observed in term_ids:
term = self._hpo.get_term(term_id)
if term is None:
self._logger.warning("Term %s cannot be found in HPO version %s. It will be ignored.", term_id, self._hpo.version)
+ ignored_terms.append(term_id)
else:
terms.append((term, observed))
validation_results = self._validator.validate_all([term[0] for term in terms])
if validation_results.is_ok:
- return tuple(Phenotype.from_term(term, observed) for term, observed in terms)
+ return tuple(Phenotype.from_term(term, observed) for term, observed in terms), ignored_terms
else:
# We return the messages for now. We may provide more details in future, if necessary.
issues = [r.message for r in validation_results.results]
From 9e7e15a06b8f3e70fb5c6863ea68df0be331f17c Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 14:55:40 -0500
Subject: [PATCH 02/25] Add auditors.
---
src/genophenocorr/preprocessing/_audit.py | 90 +++++++++++++++++++++++
1 file changed, 90 insertions(+)
create mode 100644 src/genophenocorr/preprocessing/_audit.py
diff --git a/src/genophenocorr/preprocessing/_audit.py b/src/genophenocorr/preprocessing/_audit.py
new file mode 100644
index 00000000..9382d873
--- /dev/null
+++ b/src/genophenocorr/preprocessing/_audit.py
@@ -0,0 +1,90 @@
+import abc
+import enum
+import typing
+
+
+class Level(enum.Enum):
+ """
+ An enum to represent severity of the :class:`DataSanityIssue`.
+ """
+
+ WARN = enum.auto()
+ """
+ Warning is an issue when something not entirely right. However, unlike :class:`Level.ERROR`, the analysis should
+ complete albeit with sub-optimal results 😧.
+ """
+
+ ERROR = enum.auto()
+ """
+ Error is a serious issue in the input data and the downstream analysis may not complete or the analysis results
+ may be malarkey 😱.
+ """
+
+
+class DataSanityIssue:
+ """
+ `DataSanityIssue` summarizes an issue found in the input data.
+
+ The issue has a `level`, a `message` with human-friendly description, and the proposed `solution`
+ for removing the issue.
+ """
+
+ def __init__(self, level, message, solution):
+ self._level = level
+ self._message = message
+ self._solution = solution
+
+ @property
+ def level(self) -> Level:
+ return self._level
+
+ @property
+ def message(self) -> str:
+ return self._message
+
+ @property
+ def solution(self) -> str:
+ return self._solution
+
+
+IN = typing.TypeVar('IN')
+"""
+:class:`Auditor` input.
+"""
+
+OUT = typing.TypeVar('OUT')
+"""
+:class:`Auditor` output format.
+"""
+
+
+class AuditReport(typing.Generic[OUT]):
+ """
+ `AuditReport` includes the issues found by :class:`Auditor` and the outcome of the sanitation.
+ """
+
+ def __init__(self, outcome: OUT,
+ issues: typing.Iterable[DataSanityIssue]):
+ self._outcome = outcome
+ self._issues = tuple(issues)
+
+ @property
+ def outcome(self) -> OUT:
+ return self._outcome
+
+ @property
+ def issues(self) -> typing.Sequence[DataSanityIssue]:
+ return self._issues
+
+
+class Auditor(typing.Generic[IN, OUT], metaclass=abc.ABCMeta):
+ """
+ `Auditor` checks the inputs for sanity issues and relates the issues with sanitized inputs
+ as :class:`SanitationResults`.
+
+ The input sanitation is optional so getting unsanitized input is permitted.
+ """
+
+ @abc.abstractmethod
+ def sanitize(self, inputs: IN) -> AuditReport[OUT]:
+ pass
From b696a33a86b320da72d9d05d9984331810036993 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:29:48 -0500
Subject: [PATCH 03/25] Use `SampleLabels` to represent sample ID instead of a
simple `str`.
---
src/genophenocorr/data/_toy.py | 52 ++++++++--------
src/genophenocorr/model/__init__.py | 4 +-
src/genophenocorr/model/_base.py | 60 +++++++++++++++++++
src/genophenocorr/model/_cohort.py | 20 +++++--
src/genophenocorr/model/_gt.py | 39 +++++++-----
.../preprocessing/_phenopacket.py | 19 +++---
tests/fixtures.py | 24 ++++----
7 files changed, 147 insertions(+), 71 deletions(-)
create mode 100644 src/genophenocorr/model/_base.py
diff --git a/src/genophenocorr/data/_toy.py b/src/genophenocorr/data/_toy.py
index 7a918c1a..76c90e35 100644
--- a/src/genophenocorr/data/_toy.py
+++ b/src/genophenocorr/data/_toy.py
@@ -77,132 +77,132 @@ def get_toy_cohort() -> Cohort:
Genotypes.empty()) # Not used in the patients below, hence `empty()`.
patients = (
- Patient('A',
+ Patient(SampleLabels('A'),
phenotypes=(arachnodactyly_T, spasticity_F, seizure_T),
variants=[snv],
proteins=[prot]
),
- Patient('B',
+ Patient(SampleLabels('B'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('C',
+ Patient(SampleLabels('C'),
phenotypes=(arachnodactyly_F, spasticity_T, seizure_T),
variants=[snv],
proteins=[prot]
),
- Patient('D',
+ Patient(SampleLabels('D'),
phenotypes=(arachnodactyly_T, spasticity_T, seizure_T),
variants=[snv, deletion],
proteins=[prot]
),
- Patient('E',
+ Patient(SampleLabels('E'),
phenotypes=(arachnodactyly_T, spasticity_T, seizure_F),
variants=[snv],
proteins=[prot]
),
- Patient('F',
+ Patient(SampleLabels('F'),
phenotypes=(arachnodactyly_F, spasticity_F, seizure_T),
variants=[deletion],
proteins=[prot]
),
- Patient('G',
+ Patient(SampleLabels('G'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_T),
variants=[snv, deletion],
proteins=[prot]
),
- Patient('H',
+ Patient(SampleLabels('H'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_F),
variants=[deletion],
proteins=[prot]
),
- Patient('I',
+ Patient(SampleLabels('I'),
phenotypes=(arachnodactyly_F, spasticity_F, seizure_T),
variants=[deletion],
proteins=[prot]
),
- Patient('J',
+ Patient(SampleLabels('J'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('K',
+ Patient(SampleLabels('K'),
phenotypes=(arachnodactyly_F, spasticity_T, seizure_T),
variants=[snv],
proteins=[prot]
),
- Patient('L',
+ Patient(SampleLabels('L'),
phenotypes=(arachnodactyly_F, seizure_F, spasticity_F),
variants=[deletion],
proteins=[prot]
),
- Patient('M',
+ Patient(SampleLabels('M'),
phenotypes=(arachnodactyly_T, seizure_F, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('N',
+ Patient(SampleLabels('N'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_F),
variants=[snv],
proteins=[prot]
),
- Patient('O',
+ Patient(SampleLabels('O'),
phenotypes=(arachnodactyly_F, seizure_F, spasticity_T),
variants=[deletion],
proteins=[prot]
),
- Patient('P',
+ Patient(SampleLabels('P'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_F),
variants=[snv],
proteins=[prot]
),
- Patient('Q',
+ Patient(SampleLabels('Q'),
phenotypes=(arachnodactyly_T, seizure_F, spasticity_F),
variants=[snv],
proteins=[prot]
),
- Patient('R',
+ Patient(SampleLabels('R'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_F),
variants=[snv, deletion],
proteins=[prot]
),
- Patient('S',
+ Patient(SampleLabels('S'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_T),
variants=[deletion],
proteins=[prot]
),
- Patient('T',
+ Patient(SampleLabels('T'),
phenotypes=(arachnodactyly_T, seizure_F, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('U',
+ Patient(SampleLabels('U'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_T),
variants=[deletion],
proteins=[prot]
),
- Patient('V',
+ Patient(SampleLabels('V'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('W',
+ Patient(SampleLabels('W'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_T),
variants=[deletion],
proteins=[prot]
),
- Patient('X',
+ Patient(SampleLabels('X'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_T),
variants=[deletion],
proteins=[prot]
),
- Patient('Y',
+ Patient(SampleLabels('Y'),
phenotypes=(arachnodactyly_T, seizure_T, spasticity_T),
variants=[snv],
proteins=[prot]
),
- Patient('Z',
+ Patient(SampleLabels('Z'),
phenotypes=(arachnodactyly_F, seizure_T, spasticity_T),
variants=[deletion],
proteins=[prot]
diff --git a/src/genophenocorr/model/__init__.py b/src/genophenocorr/model/__init__.py
index 6144a942..c6c2568a 100644
--- a/src/genophenocorr/model/__init__.py
+++ b/src/genophenocorr/model/__init__.py
@@ -4,7 +4,7 @@
and protein info.
"""
from . import genome
-
+from ._base import SampleLabels
from ._cohort import Cohort, Patient
from ._gt import Genotype, Genotypes, Genotyped
from ._phenotype import Phenotype
@@ -14,7 +14,7 @@
from ._variant_effects import VariantEffect
__all__ = [
- 'Cohort', 'Patient',
+ 'Cohort', 'Patient', 'SampleLabels',
'Phenotype',
'Variant', 'VariantCoordinates', 'Genotype', 'Genotypes', 'Genotyped',
'TranscriptAnnotation', 'VariantEffect', 'TranscriptInfoAware', 'TranscriptCoordinates',
diff --git a/src/genophenocorr/model/_base.py b/src/genophenocorr/model/_base.py
new file mode 100644
index 00000000..36716831
--- /dev/null
+++ b/src/genophenocorr/model/_base.py
@@ -0,0 +1,60 @@
+import typing
+
+import hpotk
+
+
+class SampleLabels:
+ """
+ A data model for subject identifiers.
+
+ The subject has a mandatory :attr:`label` and an optional :attr:`meta_label`.
+
+ The identifiers support natural ordering, equality tests, and are hashable.
+ """
+
+ def __init__(self, label: str,
+ meta_label: typing.Optional[str] = None):
+ self._label = hpotk.util.validate_instance(label, str, 'label')
+ self._meta_label = hpotk.util.validate_optional_instance(meta_label, str, 'meta_label')
+
+ @property
+ def label(self) -> str:
+ return self._label
+
+ @property
+ def meta_label(self) -> typing.Optional[str]:
+ return self._meta_label
+
+ def label_summary(self) -> str:
+ """
+ Summarize `label` and `meta_label` into a `str` where the sub-parts are inserted as ``[]``.
+ """
+ return self._label if self._meta_label is None else f'{self._label}[{self._meta_label}]'
+
+ def __eq__(self, other):
+ return isinstance(other, SampleLabels) and self._label == other.label and self._meta_label == other._meta_label
+
+ def __lt__(self, other):
+ if isinstance(other, SampleLabels):
+ if self._label < other._label:
+ return True
+ elif self._label == other._label:
+ if self._meta_label is None or other._meta_label is None:
+ if self._meta_label == other._meta_label:
+ return False
+ else:
+ return True if self._meta_label is None else False # `None` is less
+ else:
+ return self._meta_label < other._meta_label
+ return False
+ else:
+ return NotImplemented
+
+ def __hash__(self):
+ return hash((self._label, self._meta_label))
+
+ def __str__(self):
+ return self.label_summary()
+
+ def __repr__(self):
+ return f'SampleLabels(label={self._label}, meta_label={self._meta_label})'
diff --git a/src/genophenocorr/model/_cohort.py b/src/genophenocorr/model/_cohort.py
index 6dfb6fff..6678f9b2 100644
--- a/src/genophenocorr/model/_cohort.py
+++ b/src/genophenocorr/model/_cohort.py
@@ -1,6 +1,7 @@
import typing
from collections import Counter
+from ._base import SampleLabels
from ._phenotype import Phenotype
from ._protein import ProteinMetadata
from ._variant import Variant
@@ -10,25 +11,25 @@ class Patient:
"""A class that represents an individual patient
Attributes:
- patient_id (string): A string unique to this Patient object
+ patient_id (SampleLabels): The patient identifiers
phenotypes (Sequence[Phenotype]): A list of Phenotype objects
variants (Sequence[Variant]): A list of Variant objects
proteins (Sequence[ProteinMetadata]): A list of ProteinMetadata objects
"""
- def __init__(self, patient_id: str,
+ def __init__(self, labels: SampleLabels,
phenotypes: typing.Iterable[Phenotype],
variants: typing.Iterable[Variant],
proteins: typing.Iterable[ProteinMetadata]):
"""Constructs all necessary attributes for a Patient object
Args:
- patient_id (string): A string unique to this Patient object
+ labels (string): A string unique to this Patient object
phenotypes (Iterable[Phenotype]): A list of Phenotype objects
variants (Iterable[Variant]): A list of Variant objects
proteins (Iterable[ProteinMetadata]): A list of ProteinMetadata objects
"""
- self._id = patient_id
+ self._labels = labels
self._phenotypes = tuple(phenotypes)
self._variants = tuple(variants)
self._proteins = tuple(proteins)
@@ -39,7 +40,14 @@ def patient_id(self) -> str:
Returns:
string: Patient ID unique to this Patient object
"""
- return self._id
+ return self._labels.label_summary()
+
+ @property
+ def labels(self) -> SampleLabels:
+ """
+ Get the sample identifiers.
+ """
+ return self._labels
@property
def phenotypes(self) -> typing.Sequence[Phenotype]:
@@ -79,7 +87,7 @@ def excluded_phenotypes(self) -> typing.Iterator[Phenotype]:
def __str__(self) -> str:
return (f"Patient("
- f"patient_id:{self.patient_id}, "
+ f"labels:{self._labels}, "
f"variants:{self.variants}, "
f"phenotypes:{[pheno.identifier for pheno in self.phenotypes]}, "
f"proteins:{[prot.protein_id for prot in self.proteins]})")
diff --git a/src/genophenocorr/model/_gt.py b/src/genophenocorr/model/_gt.py
index dd9159d9..9d73523a 100644
--- a/src/genophenocorr/model/_gt.py
+++ b/src/genophenocorr/model/_gt.py
@@ -6,6 +6,8 @@
import numpy as np
+from ._base import SampleLabels
+
class Genotype(enum.Enum):
"""
@@ -35,8 +37,10 @@ class Genotypes(typing.Sized, typing.Iterable):
Use one of the static methods to create an instance:
- >>> gts = Genotypes.single('A', Genotype.HETEROZYGOUS)
- >>> gts = Genotypes.from_mapping({'A': Genotype.HETEROZYGOUS, 'B': Genotype.HOMOZYGOUS_ALTERNATE})
+ >>> a = SampleLabels('A')
+ >>> b = SampleLabels('B')
+ >>> gts = Genotypes.single(a, Genotype.HETEROZYGOUS)
+ >>> _ = Genotypes.from_mapping({a: Genotype.HETEROZYGOUS, b: Genotype.HOMOZYGOUS_ALTERNATE})
There are 2 genotypes in the container:
@@ -45,12 +49,12 @@ class Genotypes(typing.Sized, typing.Iterable):
You can get a genotype for a sample ID:
- >>> gts.for_sample('A')
+ >>> gts.for_sample(a)
Genotype.HETEROZYGOUS
You will get `None` if the sample is not present:
- >>> gts.for_sample('UNKNOWN')
+ >>> gts.for_sample(SampleLabels('UNKNOWN'))
None
You can iterate over sample-genotype pairs:
@@ -66,24 +70,27 @@ def empty():
return EMPTY
@staticmethod
- def single(sample_id: str, genotype: Genotype):
+ def single(sample_id: SampleLabels, genotype: Genotype):
"""
A shortcut for creating `Genotypes` for a single sample:
- >>> gts = Genotypes.single('A', Genotype.HOMOZYGOUS_ALTERNATE)
+ >>> a = SampleLabels('A')
+ >>> gts = Genotypes.single(a, Genotype.HOMOZYGOUS_ALTERNATE)
>>> assert len(gts) == 1
- >>> assert gts.for_sample('A') == Genotype.HOMOZYGOUS_ALTERNATE
+ >>> assert gts.for_sample(a) == Genotype.HOMOZYGOUS_ALTERNATE
"""
return Genotypes((sample_id,), (genotype,))
@staticmethod
- def from_mapping(mapping: typing.Mapping[str, Genotype]):
+ def from_mapping(mapping: typing.Mapping[SampleLabels, Genotype]):
"""
Create `Genotypes` from mapping between sample IDs and genotypes.
- >>> gts = Genotypes.from_mapping({'A': Genotype.HETEROZYGOUS, 'B': Genotype.HOMOZYGOUS_ALTERNATE})
+ >>> a = SampleLabels('A')
+ >>> b = SampleLabels('B')
+ >>> gts = Genotypes.from_mapping({a: Genotype.HETEROZYGOUS, b: Genotype.HOMOZYGOUS_ALTERNATE})
>>> assert len(gts) == 2
"""
@@ -91,7 +98,7 @@ def from_mapping(mapping: typing.Mapping[str, Genotype]):
return Genotypes(*Genotypes._preprocess_mapping(mapping))
@staticmethod
- def _preprocess_mapping(genotypes: typing.Mapping[str, Genotype]) -> typing.Tuple[typing.Sequence[str], typing.Sequence[Genotype]]:
+ def _preprocess_mapping(genotypes: typing.Mapping[SampleLabels, Genotype]) -> typing.Tuple[typing.Sequence[str], typing.Sequence[Genotype]]:
samples = np.empty(shape=(len(genotypes),), dtype=object)
gts = np.empty(shape=(len(genotypes),), dtype=object)
@@ -103,17 +110,17 @@ def _preprocess_mapping(genotypes: typing.Mapping[str, Genotype]) -> typing.Tupl
return samples[indices], gts[indices]
- def __init__(self, samples: typing.Iterable[str], genotypes: typing.Iterable[Genotype]):
+ def __init__(self, samples: typing.Iterable[SampleLabels], genotypes: typing.Iterable[Genotype]):
self._samples = tuple(samples)
self._gts = tuple(genotypes)
if len(self._samples) != len(self._gts):
raise ValueError(f'Mismatch between the sample and genotype count: {len(self._samples)} != {len(self._gts)}')
- def for_sample(self, sample_id: str) -> typing.Optional[Genotype]:
+ def for_sample(self, sample_id: SampleLabels) -> typing.Optional[Genotype]:
"""
Get a genotype for a sample or `None` if the genotype is not present.
- :param sample_id: a `str` with sample's identifier.
+ :param sample_id: a :class:`SampleLabels` with sample's identifier.
"""
idx = bisect.bisect_left(self._samples, sample_id)
if idx != len(self._samples) and self._samples[idx] == sample_id:
@@ -123,7 +130,7 @@ def for_sample(self, sample_id: str) -> typing.Optional[Genotype]:
def __len__(self) -> int:
return len(self._samples)
- def __iter__(self) -> Iterator[typing.Tuple[str, Genotype]]:
+ def __iter__(self) -> Iterator[typing.Tuple[SampleLabels, Genotype]]:
return zip(self._samples, self._gts)
def __hash__(self):
@@ -154,10 +161,10 @@ class Genotyped(metaclass=abc.ABCMeta):
def genotypes(self) -> Genotypes:
pass
- def genotype_for_sample(self, sample_id: str) -> typing.Optional[Genotype]:
+ def genotype_for_sample(self, sample_id: SampleLabels) -> typing.Optional[Genotype]:
"""
Get a genotype for a sample or `None` if the genotype is not present.
- :param sample_id: a `str` with sample's identifier.
+ :param sample_id: a :class:`SampleLabels` with sample's identifier.
"""
return self.genotypes.for_sample(sample_id)
diff --git a/src/genophenocorr/preprocessing/_phenopacket.py b/src/genophenocorr/preprocessing/_phenopacket.py
index da03c3cf..d9d2b99b 100644
--- a/src/genophenocorr/preprocessing/_phenopacket.py
+++ b/src/genophenocorr/preprocessing/_phenopacket.py
@@ -9,14 +9,13 @@
from phenopackets import GenomicInterpretation, Phenopacket
from tqdm import tqdm
+from genophenocorr.model import Patient, Cohort, SampleLabels
from genophenocorr.model import Phenotype, ProteinMetadata, VariantCoordinates, Variant, Genotype, Genotypes
-from genophenocorr.model import Patient, Cohort
from genophenocorr.model.genome import GenomeBuild, GenomicRegion, Strand
-
+from ._api import VariantCoordinateFinder, FunctionalAnnotator
+from ._audit import AuditReport
from ._patient import PatientCreator
from ._phenotype import PhenotypeCreator
-from ._api import VariantCoordinateFinder, FunctionalAnnotator
-
class PhenopacketVariantCoordinateFinder(VariantCoordinateFinder[GenomicInterpretation]):
@@ -27,6 +26,7 @@ class PhenopacketVariantCoordinateFinder(VariantCoordinateFinder[GenomicInterpre
:param build: genome build to use in `VariantCoordinates
:param hgvs_coordinate_finder: the coordinate finder to use for parsing HGVS expressions
"""
+
def __init__(self, build: GenomeBuild,
hgvs_coordinate_finder: VariantCoordinateFinder[str]):
self._logger = logging.getLogger(__name__)
@@ -162,11 +162,11 @@ def create_patient(self, item: Phenopacket) -> Patient:
Returns:
Patient: A Patient object
"""
- sample_id = self._extract_id(item)
- phenotypes = self._add_phenotypes(item)
- variants = self._add_variants(sample_id, item)
- protein_data = self._add_protein_data(variants)
- return Patient(item.id, phenotypes, variants, protein_data)
+ sample_id = SampleLabels(label=inputs.subject.id, meta_label=inputs.id if len(inputs.id) > 0 else None)
+
+ # Validation - relay the errors found by `PhenotypeCreator`
+ # we report issues in any case
+ phenotypes = self._add_phenotypes(inputs)
@staticmethod
def _extract_id(pp: Phenopacket):
@@ -178,6 +178,7 @@ def _extract_id(pp: Phenopacket):
def _add_variants(self, sample_id: str, pp: Phenopacket) -> typing.Sequence[Variant]:
+ def _add_variants(self, sample_id: SampleLabels, pp: Phenopacket) -> AuditReport[typing.Sequence[Variant]]:
"""Creates a list of Variant objects from the data in a given Phenopacket
Args:
diff --git a/tests/fixtures.py b/tests/fixtures.py
index 87108c92..59b4476e 100644
--- a/tests/fixtures.py
+++ b/tests/fixtures.py
@@ -39,36 +39,36 @@ def toy_cohort() -> Cohort:
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.6691dup', False, [VariantEffect.FRAMESHIFT_VARIANT], [9],
[prot], Region(2230, 2231))
],
- Genotypes.from_mapping({'HetSingleVar': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('HetSingleVar'): Genotype.HETEROZYGOUS}))
indel = Variant(VariantCoordinates(make_region("16", 89284600, 89284602), ref='GG', alt='A', change_length=-1),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.1940_1941delinsT', False, [VariantEffect.FRAMESHIFT_VARIANT],
[9], [prot], Region(646, 647))
],
- Genotypes.from_mapping({'HetDoubleVar1': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('HetDoubleVar1'): Genotype.HETEROZYGOUS}))
snv_stop_gain = Variant(VariantCoordinates(make_region("16", 89280751, 89280752), ref='G', alt='T', change_length=0),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.5790C>A', False, [VariantEffect.STOP_GAINED], [9], [prot],
Region(1929, 1930))],
- Genotypes.from_mapping({'HetDoubleVar1': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('HetDoubleVar1'): Genotype.HETEROZYGOUS}))
snv_missense = Variant(VariantCoordinates(make_region("16", 89275127, 89275128), ref='G', alt='A', change_length=0),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.7534C>T', False, [VariantEffect.MISSENSE_VARIANT], [10],
[prot], Region(2511, 2512))
],
- Genotypes.from_mapping({'HetDoubleVar2': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('HetDoubleVar2'): Genotype.HETEROZYGOUS}))
del_frameshift = Variant(VariantCoordinates(make_region("16", 89279707, 89279725), ref='AGTGTTCGGGGCGGGGCC', alt='A', change_length=-17),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.6817_6833del', False, [VariantEffect.FRAMESHIFT_VARIANT],
[9], [prot], Region(2272, 2278))
],
- Genotypes.from_mapping({'HetDoubleVar2': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('HetDoubleVar2'): Genotype.HETEROZYGOUS}))
del_small = Variant(VariantCoordinates(make_region("16", 89279457, 89279459), ref='TG', alt='T', change_length=-1),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', 'NM_013275.6:c.7083del', False, [VariantEffect.FRAMESHIFT_VARIANT], [9],
[prot], Region(2360, 2362))
],
- Genotypes.from_mapping({'HomoVar': Genotype.HOMOZYGOUS_ALTERNATE}))
+ Genotypes.from_mapping({SampleLabels('HomoVar'): Genotype.HOMOZYGOUS_ALTERNATE}))
del_large = Variant(VariantCoordinates(make_region("16", 89_190_070, 89_439_815), ref='N', alt='', change_length=-249_745),
[
TranscriptAnnotation('ANKRD11', 'NM_013275.6', None, False,
@@ -76,30 +76,30 @@ def toy_cohort() -> Cohort:
VariantEffect.THREE_PRIME_UTR_VARIANT, VariantEffect.INTRON_VARIANT], [2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13],
[prot], None)
],
- Genotypes.from_mapping({'LargeCNV': Genotype.HETEROZYGOUS}))
+ Genotypes.from_mapping({SampleLabels('LargeCNV'): Genotype.HETEROZYGOUS}))
patients = (
- Patient('HetSingleVar',
+ Patient(SampleLabels('HetSingleVar'),
phenotypes=(phenos['arachnodactyly_T'], phenos['spasticity_F'], phenos['focal_clonic_seizure_T']),
variants=(dup,),
proteins=[prot]
),
- Patient('HetDoubleVar1',
+ Patient(SampleLabels('HetDoubleVar1'),
phenotypes=(phenos['arachnodactyly_T'], phenos['seizure_T'], phenos['spasticity_T']),
variants=(indel, snv_stop_gain),
proteins=[prot]
),
- Patient('HetDoubleVar2',
+ Patient(SampleLabels('HetDoubleVar2'),
phenotypes=(phenos['arachnodactyly_F'], phenos['spasticity_T'], phenos['seizure_T']),
variants=(snv_missense, del_frameshift),
proteins=[prot]
),
- Patient('HomoVar',
+ Patient(SampleLabels('HomoVar'),
phenotypes=(phenos['arachnodactyly_T'], phenos['spasticity_T'], phenos['seizure_T']),
variants=(del_small,),
proteins=[prot]
),
- Patient('LargeCNV',
+ Patient(SampleLabels('LargeCNV'),
phenotypes=(phenos['arachnodactyly_T'], phenos['spasticity_T'], phenos['seizure_F']),
variants=(del_large,),
proteins=[prot]
From 36e754b0531eb8bc56e5ccc10d1c4526e8ba0439 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:32:42 -0500
Subject: [PATCH 04/25] Spread `Auditor` API across the members of the
preprocessing package.
---
src/genophenocorr/preprocessing/_api.py | 7 ++
src/genophenocorr/preprocessing/_audit.py | 2 +-
src/genophenocorr/preprocessing/_patient.py | 22 ++----
.../preprocessing/_phenopacket.py | 73 +++++++++++--------
src/genophenocorr/preprocessing/_phenotype.py | 64 ++++++++++++----
5 files changed, 106 insertions(+), 62 deletions(-)
diff --git a/src/genophenocorr/preprocessing/_api.py b/src/genophenocorr/preprocessing/_api.py
index 36cc4cb7..5df50d51 100644
--- a/src/genophenocorr/preprocessing/_api.py
+++ b/src/genophenocorr/preprocessing/_api.py
@@ -20,6 +20,13 @@ class FunctionalAnnotator(metaclass=abc.ABCMeta):
@abc.abstractmethod
def annotate(self, variant_coordinates: VariantCoordinates) -> typing.Sequence[TranscriptAnnotation]:
+ """
+ Compute functional annotations for the variant coordinates. The annotations can be empty.
+
+ Returns: a sequence of transcript annotations
+ Raises:
+ ValueError if the annotation cannot proceed due to the remote resource being offline, etc.
+ """
pass
diff --git a/src/genophenocorr/preprocessing/_audit.py b/src/genophenocorr/preprocessing/_audit.py
index 9382d873..67f9c625 100644
--- a/src/genophenocorr/preprocessing/_audit.py
+++ b/src/genophenocorr/preprocessing/_audit.py
@@ -86,5 +86,5 @@ class Auditor(typing.Generic[IN, OUT], metaclass=abc.ABCMeta):
"""
@abc.abstractmethod
- def sanitize(self, inputs: IN) -> AuditReport[OUT]:
+ def process(self, inputs: IN) -> AuditReport[OUT]:
pass
diff --git a/src/genophenocorr/preprocessing/_patient.py b/src/genophenocorr/preprocessing/_patient.py
index 58eae22a..8c8689b9 100644
--- a/src/genophenocorr/preprocessing/_patient.py
+++ b/src/genophenocorr/preprocessing/_patient.py
@@ -4,24 +4,16 @@
from genophenocorr.model import Patient
+from ._audit import Auditor
-T = typing.TypeVar('T')
+T = typing.TypeVar('T')
-class PatientCreator(typing.Generic[T], metaclass=abc.ABCMeta):
- """A metaclass that can be used to establish a class that creates a Patient object
- Methods:
- create_patient(item:Generic): Creates a Patient from the data in a given item
+class PatientCreator(typing.Generic[T], Auditor[T, Patient], metaclass=abc.ABCMeta):
"""
+ `PatientCreator` can create a `Patient` from some input `T`.
- @abc.abstractmethod
- def create_patient(self, item: T) -> Patient:
- """Creates a Patient from the data in a given item
-
- Args:
- item (Generic[T]): An object with subject data
- Returns:
- Patient: A Patient object
- """
- pass
\ No newline at end of file
+ `PatientCreator` is an `Auditor`, hence the input is sanitized and any errors are reported to the caller.
+ """
+ pass
diff --git a/src/genophenocorr/preprocessing/_phenopacket.py b/src/genophenocorr/preprocessing/_phenopacket.py
index d9d2b99b..cd27f195 100644
--- a/src/genophenocorr/preprocessing/_phenopacket.py
+++ b/src/genophenocorr/preprocessing/_phenopacket.py
@@ -154,11 +154,11 @@ def __init__(self, build: GenomeBuild,
self._phenotype_creator = hpotk.util.validate_instance(phenotype_creator, PhenotypeCreator, 'phenotype_creator')
self._func_ann = hpotk.util.validate_instance(var_func_ann, FunctionalAnnotator, 'var_func_ann')
- def create_patient(self, item: Phenopacket) -> Patient:
+ def process(self, inputs: Phenopacket) -> AuditReport[Patient]:
"""Creates a Patient from the data in a given Phenopacket
Args:
- item (Phenopacket): A Phenopacket object
+ inputs (Phenopacket): A Phenopacket object
Returns:
Patient: A Patient object
"""
@@ -168,16 +168,17 @@ def create_patient(self, item: Phenopacket) -> Patient:
# we report issues in any case
phenotypes = self._add_phenotypes(inputs)
- @staticmethod
- def _extract_id(pp: Phenopacket):
- subject = pp.subject
- if len(subject.id) > 0:
- return subject.id
- else:
- return pp.id
+ # Validate
+ # - there is >=1 variant in the subject
+ # - mitigate: skip, warning
+ variants = self._add_variants(sample_id, inputs)
+ # TODO: clean up when the protein metadata are removed from the patient.
+ issues = []
+
+ patient = Patient(sample_id, phenotypes=phenotypes.outcome, variants=variants.outcome, proteins=())
+ return AuditReport(patient, issues)
- def _add_variants(self, sample_id: str, pp: Phenopacket) -> typing.Sequence[Variant]:
def _add_variants(self, sample_id: SampleLabels, pp: Phenopacket) -> AuditReport[typing.Sequence[Variant]]:
"""Creates a list of Variant objects from the data in a given Phenopacket
@@ -186,30 +187,45 @@ def _add_variants(self, sample_id: SampleLabels, pp: Phenopacket) -> AuditReport
Returns:
Sequence[Variant]: A list of Variant objects
"""
- variants_list = []
+ # Variant validation:
+ #
+ # - for each variant:
+ # - genomic interpretation must be a VCF record or a VRS CNV or an HGVS expression
+ # - mitigate: skip, warning
+ # - Lauren check the `vc.alt == 'N'` if it ever happens. I think we should not care if we do not have this
+ # in our phenopackets. Maybe a regex check.
+ # - there is at least 1 tx annotation. This can happen, since the `FunctionalAnnotator` is allowed to return
+ # an empty sequence. This has pros and cons, but I judge that it is better to give the annotator some wiggle
+ # room than to be really really really strict.
+ # - mitigate: ADD the variant but emit a warning. We can still use the variant in the `VariantPredicate`
+ variants = []
+ issues = []
for i, interp in enumerate(pp.interpretations):
for genomic_interp in interp.diagnosis.genomic_interpretations:
vc, gt = self._coord_finder.find_coordinates(genomic_interp)
- if vc == None:
+ if vc is None:
self._logger.warning('Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` '
- 'but did not find one in patient %s', pp.id)
+ 'but did not find one in patient %s', sample_id)
continue
+
if "N" in vc.alt:
- self._logger.warning('Patient %s has unknown alternative variant %s, this variant will not be included.', pp.id, vc.variant_key)
+ self._logger.warning(
+ 'Patient %s has unknown alternative variant %s, this variant will not be included.', pp.id,
+ vc.variant_key)
continue
+
tx_annotations = self._func_ann.annotate(vc)
- if tx_annotations is None:
- self._logger.warning("Patient %s has an error with variant %s, this variant will not be included.", pp.id, vc.variant_key)
+ if len(tx_annotations) == 0:
+ self._logger.warning("Patient %s has an error with variant %s, this variant will not be included.",
+ pp.id, vc.variant_key)
continue
+
genotype = Genotypes.single(sample_id, gt)
- variant = Variant(vc, tx_annotations, genotype)
- variants_list.append(variant)
+ variants.append(Variant(vc, tx_annotations, genotype))
- if len(variants_list) == 0:
- self._logger.warning('Expected at least one variant per patient, but received none for patient %s', pp.id)
- return variants_list
+ return AuditReport(variants, issues)
- def _add_phenotypes(self, pp: Phenopacket) -> typing.Sequence[Phenotype]:
+ def _add_phenotypes(self, pp: Phenopacket) -> AuditReport[typing.Sequence[Phenotype]]:
"""Creates a list of Phenotype objects from the data in a given Phenopacket
Args:
@@ -220,13 +236,8 @@ def _add_phenotypes(self, pp: Phenopacket) -> typing.Sequence[Phenotype]:
hpo_id_list = []
for hpo_id in pp.phenotypic_features:
hpo_id_list.append((hpo_id.type.id, not hpo_id.excluded))
- if len(hpo_id_list) == 0:
- self._logger.warning(f'Expected at least one HPO term per patient, but received none for patient {pp.id}')
- return []
- phenotypes, ignored_phenotypes = self._phenotype_creator.create_phenotype(hpo_id_list)
- if len(ignored_phenotypes) != 0:
- self._logger.warning("Patient %s had %i unknown phenotypes: %s", pp.id, len(ignored_phenotypes), ', '.join(ignored_phenotypes))
- return phenotypes
+
+ return self._phenotype_creator.process(hpo_id_list)
def _add_protein_data(self, variants: typing.Sequence[Variant]) -> typing.Collection[ProteinMetadata]:
"""Creates a list of ProteinMetadata objects from a given list of Variant objects
@@ -246,7 +257,7 @@ def _add_protein_data(self, variants: typing.Sequence[Variant]) -> typing.Collec
def load_phenopacket_folder(pp_directory: str,
patient_creator: PhenopacketPatientCreator,
- #policy:str = "strict/lenient/etc",
+ # policy:str = "strict/lenient/etc",
include_patients_with_no_HPO: bool = False) -> Cohort:
"""
Creates a Patient object for each phenopacket formatted JSON file in the given directory `pp_directory`.
@@ -256,7 +267,7 @@ def load_phenopacket_folder(pp_directory: str,
:param patient_creator: patient creator for turning a phenopacket into a :class:`genophenocorr.Patient`
:return: a cohort made of the phenopackets
"""
- ## NOTE: Strict would stop code at error vs lenient would just print error but continue.
+ ## NOTE: Strict would stop code at error vs lenient would just print error but continue.
if not os.path.isdir(pp_directory):
raise ValueError("Could not find directory of Phenopackets.")
hpotk.util.validate_instance(patient_creator, PhenopacketPatientCreator, 'patient_creator')
diff --git a/src/genophenocorr/preprocessing/_phenotype.py b/src/genophenocorr/preprocessing/_phenotype.py
index f5d1b631..c8c97f11 100644
--- a/src/genophenocorr/preprocessing/_phenotype.py
+++ b/src/genophenocorr/preprocessing/_phenotype.py
@@ -4,6 +4,8 @@
from genophenocorr.model import Phenotype
+from ._audit import Auditor, AuditReport
+
class PhenotypeValidationException(BaseException):
@@ -15,48 +17,80 @@ def issues(self):
return self._issues
-class PhenotypeCreator:
- """A class that creates a Phenotype object
+class PhenotypeCreator(Auditor[typing.Iterable[typing.Tuple[str, bool]], typing.Sequence[Phenotype]]):
+ """A class that creates a Phenotype object
Methods:
create_phenotype(term_ids:Iterable[Tuple[str, bool]]): Creates a list of Phenotype objects from a list of tuples.
Each tuple has the HPO ID and a boolean on if the phenotype is observed.
"""
+
def __init__(self, hpo: hpotk.MinimalOntology,
validator: hpotk.validate.ValidationRunner):
"""Constructs all necessary attributes for a PhenotypeCreator object
Args:
- hpo (hpotk.ontology.Ontology): An Ontology object
- validator (hpotk.validate.ValidationRunner): A ValidationRunner object
+ hpo (hpotk.ontology.Ontology): An Ontology object
+ validator (hpotk.validate.ValidationRunner): A ValidationRunner object
"""
self._logger = logging.getLogger(__name__)
self._hpo = hpotk.util.validate_instance(hpo, hpotk.MinimalOntology, 'hpo')
self._validator = hpotk.util.validate_instance(validator, hpotk.validate.ValidationRunner, 'validator')
- def create_phenotype(self, term_ids: typing.Iterable[typing.Tuple[str, bool]]) -> typing.Tuple[typing.Sequence[Phenotype], typing.Sequence[str]]:
+ def process(self, inputs: typing.Iterable[typing.Tuple[str, bool]]) -> AuditReport[typing.Sequence[Phenotype]]:
"""Creates a list of Phenotype objects from term IDs and checks if the term IDs satisfy the validation requirements.
Args:
- term_ids (Iterable[Tuple[str, bool]]): A list of Tuples, structured (HPO IDs, boolean- True if observed)
+ inputs (Iterable[Tuple[str, bool]]): A list of Tuples, structured (HPO IDs, boolean- True if observed)
Returns:
A sequence of Phenotype objects
Error:
PhenotypeValidationException: An instance of an issue with the ValidationRunner
"""
+ # TODO(ielis): implement
+ # Validation:
+ # - `str` is a CURIE compact URI, NCIT_C12345, `HP:0001250`
+ # - salvage: skip and warn
+ # - CURIE must be an HPO term, so `NCIT_C12345` is not allowed
+ # - salvage: skip and warn
+ # - term must be in used HPO
+ # - salvage: skip and warn
+ # - term ID is current and not obsolete
+ # - salvage: update to primary and warn
+ # - HPO term must be a descendant of Phenotypic abnormality
+ # - salvage: skip and warn
+ # - HPO terms must be unique
+ # - salvage: remove the duplicates and warn
+ # - do we have >1 HPO term?
+ # - salvage: ERROR!
+ # - logical consistency
+ # - prune the excluded terms
+ # - the terms do not include an excluded term and its excluded descendant
+ # - salvage: skip the descendant and warn
+ # - the terms do not include a present term and its present ancestor
+ # - salvage: skip the ancestor and warn
+ # - the terms do not include a present term and its excluded ancestor
+ # - salvage: cannot save, the user must decide which term is kept
+ issues = ()
terms = []
ignored_terms = []
- for term_id, observed in term_ids:
+ for term_id, observed in inputs:
term = self._hpo.get_term(term_id)
if term is None:
- self._logger.warning("Term %s cannot be found in HPO version %s. It will be ignored.", term_id, self._hpo.version)
+ self._logger.warning("Term %s cannot be found in HPO version %s. It will be ignored.", term_id,
+ self._hpo.version)
ignored_terms.append(term_id)
else:
terms.append((term, observed))
- validation_results = self._validator.validate_all([term[0] for term in terms])
- if validation_results.is_ok:
- return tuple(Phenotype.from_term(term, observed) for term, observed in terms), ignored_terms
- else:
- # We return the messages for now. We may provide more details in future, if necessary.
- issues = [r.message for r in validation_results.results]
- raise PhenotypeValidationException(issues)
+
+
+ # validation_results = self._validator.validate_all([term[0] for term in terms])
+ # if validation_results.is_ok:
+ #
+ #
+ # else:
+ # # We return the messages for now. We may provide more details in future, if necessary.
+ # issues = [r.message for r in validation_results.results]
+ # raise PhenotypeValidationException(issues)
+
+ return AuditReport(tuple(Phenotype.from_term(term, observed) for term, observed in terms), issues)
From 12c9275033bf0e3842e7062b4271eed933320119 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:33:47 -0500
Subject: [PATCH 05/25] Tweak VEP wrapper.
---
src/genophenocorr/preprocessing/_test_vep.py | 4 ++--
src/genophenocorr/preprocessing/_vep.py | 18 ++++++++++--------
2 files changed, 12 insertions(+), 10 deletions(-)
diff --git a/src/genophenocorr/preprocessing/_test_vep.py b/src/genophenocorr/preprocessing/_test_vep.py
index a0afdf39..b5b7d7ff 100644
--- a/src/genophenocorr/preprocessing/_test_vep.py
+++ b/src/genophenocorr/preprocessing/_test_vep.py
@@ -8,7 +8,7 @@
from genophenocorr.model import VariantCoordinates, VariantEffect
from genophenocorr.model.genome import GenomicRegion, Strand, GRCh38
-from ._vep import verify_start_end_coordinates, VepFunctionalAnnotator
+from ._vep import format_coordinates_for_vep_query, VepFunctionalAnnotator
from ._test_variant import variant_annotator
@@ -55,7 +55,7 @@ def test_verify_start_end_coordinates(contig_name, start, end, ref, alt, chlen,
contig = GRCh38.contig_by_name(contig_name)
region = GenomicRegion(contig, start, end, Strand.POSITIVE)
vc = VariantCoordinates(region, ref, alt, chlen)
- out = verify_start_end_coordinates(vc)
+ out = format_coordinates_for_vep_query(vc)
assert out == expected
diff --git a/src/genophenocorr/preprocessing/_vep.py b/src/genophenocorr/preprocessing/_vep.py
index c6960b51..de710d43 100644
--- a/src/genophenocorr/preprocessing/_vep.py
+++ b/src/genophenocorr/preprocessing/_vep.py
@@ -8,7 +8,8 @@
from genophenocorr.model.genome import Region
from ._api import FunctionalAnnotator, ProteinMetadataService
-def verify_start_end_coordinates(vc: VariantCoordinates):
+
+def format_coordinates_for_vep_query(vc: VariantCoordinates) -> str:
"""
Converts the 0-based VariantCoordinates to ones that will be interpreted
correctly by VEP
@@ -94,12 +95,14 @@ def annotate(self, variant_coordinates: VariantCoordinates) -> typing.Sequence[T
Returns:
typing.Sequence[TranscriptAnnotation]: A sequence of transcript
annotations for the variant coordinates
+ Raises:
+ ValueError if VEP times out or does not return a response or if the response is not formatted as we expect.
"""
response = self._query_vep(variant_coordinates)
annotations = []
if 'transcript_consequences' not in response:
- self._logger.error('The VEP response lacked the required `transcript_consequences` field. %s', response)
- return None
+ self._logger.warning('The VEP response for `%s` lacked the required `transcript_consequences` field. %s', variant_coordinates, response)
+ return ()
for trans in response['transcript_consequences']:
annotation = self._process_item(trans)
if annotation is not None:
@@ -170,17 +173,16 @@ def _process_item(self, item: typing.Dict) -> typing.Optional[TranscriptAnnotati
protein_effect)
def _query_vep(self, variant_coordinates: VariantCoordinates) -> dict:
- api_url = self._url % (verify_start_end_coordinates(variant_coordinates))
- r = requests.get(api_url, headers={'Content-Type': 'application/json'})
+ api_url = self._url % (format_coordinates_for_vep_query(variant_coordinates))
+ r = requests.get(api_url, headers={'Accept': 'application/json'}, timeout=self._timeout)
if not r.ok:
self._logger.error("Expected a result but got an Error for variant: %s", variant_coordinates.variant_key)
self._logger.error(r.text)
- return None
+ raise ValueError('Expected a result but got an Error. See log for details.')
results = r.json()
if not isinstance(results, list):
self._logger.error(results.get('error'))
- raise ConnectionError(
- f"Expected a result but got an Error. See log for details.")
+ raise ValueError("Expected a result but got an Error. See log for details.")
if len(results) > 1:
self._logger.error("Expected only one variant per request but received %s different variants.", len(results))
self._logger.error([result.id for result in results])
From fbabb5a451358cc3df6296b92066f2bb2a360d20 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:34:14 -0500
Subject: [PATCH 06/25] Add timeout to VEP wrapper.
---
src/genophenocorr/preprocessing/_vep.py | 5 ++++-
1 file changed, 4 insertions(+), 1 deletion(-)
diff --git a/src/genophenocorr/preprocessing/_vep.py b/src/genophenocorr/preprocessing/_vep.py
index de710d43..b896821d 100644
--- a/src/genophenocorr/preprocessing/_vep.py
+++ b/src/genophenocorr/preprocessing/_vep.py
@@ -54,6 +54,7 @@ class VepFunctionalAnnotator(FunctionalAnnotator):
protein_annotator (ProteinMetadataService): a service for getting protein data
include_computational_txs (bool): Include computational transcripts, such as
RefSeq `XM_`.
+ timeout (int): Timeout in seconds
"""
NONCODING_EFFECTS = {
@@ -77,7 +78,8 @@ class VepFunctionalAnnotator(FunctionalAnnotator):
"""
def __init__(self, protein_annotator: ProteinMetadataService,
- include_computational_txs: bool = False):
+ include_computational_txs: bool = False,
+ timeout: int = 10):
self._logger = logging.getLogger(__name__)
self._protein_annotator = protein_annotator
self._url = 'https://rest.ensembl.org/vep/human/region/%s?LoF=1&canonical=1' \
@@ -85,6 +87,7 @@ def __init__(self, protein_annotator: ProteinMetadataService,
'&mutfunc=1&numbers=1&protein=1&refseq=1&mane=1' \
'&transcript_version=1&variant_class=1'
self._include_computational_txs = include_computational_txs
+ self._timeout = timeout
def annotate(self, variant_coordinates: VariantCoordinates) -> typing.Sequence[TranscriptAnnotation]:
From a972f6736a02e2c2ffa71f66821af1a015a41636 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:34:27 -0500
Subject: [PATCH 07/25] Small tweaks.
---
src/genophenocorr/preprocessing/_phenopacket.py | 2 +-
tests/test_predicates.py | 2 +-
2 files changed, 2 insertions(+), 2 deletions(-)
diff --git a/src/genophenocorr/preprocessing/_phenopacket.py b/src/genophenocorr/preprocessing/_phenopacket.py
index cd27f195..6c0284ff 100644
--- a/src/genophenocorr/preprocessing/_phenopacket.py
+++ b/src/genophenocorr/preprocessing/_phenopacket.py
@@ -96,7 +96,7 @@ def find_coordinates(self, item: GenomicInterpretation) -> typing.Tuple[VariantC
return vc, gt
- def _check_assembly(self, genome_assembly:str) -> bool:
+ def _check_assembly(self, genome_assembly: str) -> bool:
if '38' in genome_assembly and self._build.identifier == 'GRCh38.p13':
return True
elif ('37' in genome_assembly or '19' in genome_assembly) and self._build.identifier == 'GRCh37.p13':
diff --git a/tests/test_predicates.py b/tests/test_predicates.py
index 7e3fb12a..4eb2744e 100644
--- a/tests/test_predicates.py
+++ b/tests/test_predicates.py
@@ -11,7 +11,7 @@
from .fixtures import toy_hpo, toy_cohort
-def find_patient(pat_id, cohort) -> typing.Optional[Patient]:
+def find_patient(pat_id: str, cohort: Cohort) -> typing.Optional[Patient]:
for pat in cohort.all_patients:
if pat.patient_id == pat_id:
return pat
From a6d1e82360a9f7b170626ae9ade682704ff5730e Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:46:27 -0500
Subject: [PATCH 08/25] Fix the user guide for the time being.
---
docs/user-guide/input-data.rst | 4 ++--
1 file changed, 2 insertions(+), 2 deletions(-)
diff --git a/docs/user-guide/input-data.rst b/docs/user-guide/input-data.rst
index c5f2afab..40e679bf 100644
--- a/docs/user-guide/input-data.rst
+++ b/docs/user-guide/input-data.rst
@@ -77,8 +77,8 @@ Here we walk the file system, load all phenopacket JSON files, and transform the
... pp_path = os.path.join(dirpath, filename)
... with open(pp_path) as fh:
... pp = Parse(fh.read(), Phenopacket())
- ... patient = patient_creator.create_patient(pp)
- ... patients.append(patient)
+ ... output = patient_creator.process(pp)
+ ... patients.append(output.outcome)
>>> f'Loaded {len(patients)} phenopackets'
From 8418e813af1e7af723557a2e4557144d0eb175b1 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Tue, 9 Jan 2024 16:52:39 -0500
Subject: [PATCH 09/25] Fix the phenopacket loader function.
---
src/genophenocorr/preprocessing/_phenopacket.py | 10 +++-------
1 file changed, 3 insertions(+), 7 deletions(-)
diff --git a/src/genophenocorr/preprocessing/_phenopacket.py b/src/genophenocorr/preprocessing/_phenopacket.py
index 6c0284ff..d697002c 100644
--- a/src/genophenocorr/preprocessing/_phenopacket.py
+++ b/src/genophenocorr/preprocessing/_phenopacket.py
@@ -280,13 +280,9 @@ def load_phenopacket_folder(pp_directory: str,
# turn phenopackets into patients using patient creator
patients = []
for pp in tqdm(pps, desc='Patients Created'):
- patient = patient_creator.create_patient(pp)
- if len(patient.phenotypes) == 0:
- patient_creator._logger.warning('Patient %s has no phenotypes listed and will not be included in this analysis.', patient.patient_id)
- if len(patient.variants) == 0:
- patient_creator._logger.warning('Patient %s has no variants listed and will not be included in this analysis.', patient.patient_id)
- if patient is not None:
- patients.append(patient)
+ output = patient_creator.process(pp)
+ # TODO: handle potential sanity issues and decide about the sample's fate.
+ patients.append(output.outcome)
# create cohort from patients
return Cohort.from_patients(patients, include_patients_with_no_HPO)
From 4cbf1d7484d7bd5c77217f3c015e767a33db40a0 Mon Sep 17 00:00:00 2001
From: Daniel Danis
Date: Thu, 11 Jan 2024 11:19:40 -0500
Subject: [PATCH 10/25] Clean up the test setup before working on
`PhenotypeCreator` tests.
---
tests/conftest.py | 19 +-
tests/fixtures.py | 7 -
tests/test_analysis.py | 10 +-
.../{testingDefaults => test_data}/README.md | 29 +-
.../hp.toy.json | 0
tests/test_predicates.py | 2 +-
tests/test_preprocessing.py | 24 +-
tests/testingDefaults/hp.json | 665028 ---------------
8 files changed, 46 insertions(+), 665073 deletions(-)
rename tests/{testingDefaults => test_data}/README.md (72%)
rename tests/{testingDefaults => test_data}/hp.toy.json (100%)
delete mode 100644 tests/testingDefaults/hp.json
diff --git a/tests/conftest.py b/tests/conftest.py
index 9830291e..dfa3e7c3 100644
--- a/tests/conftest.py
+++ b/tests/conftest.py
@@ -1,5 +1,6 @@
-# content of conftest.py
+import os
+import hpotk
import pytest
@@ -21,3 +22,19 @@ def pytest_collection_modifyitems(config, items):
for item in items:
if "online" in item.keywords:
item.add_marker(skip_online)
+
+
+@pytest.fixture(scope='session')
+def toy_hpo() -> hpotk.MinimalOntology:
+ path = os.path.join(os.path.dirname(os.path.abspath(__file__)), 'test_data', 'hp.toy.json')
+ return hpotk.load_minimal_ontology(path)
+
+
+@pytest.fixture(scope='session')
+def toy_validation_runner(toy_hpo: hpotk.MinimalOntology) -> hpotk.validate.ValidationRunner:
+ validators = (
+ hpotk.validate.ObsoleteTermIdsValidator(toy_hpo),
+ hpotk.validate.AnnotationPropagationValidator(toy_hpo),
+ hpotk.validate.PhenotypicAbnormalityValidator(toy_hpo)
+ )
+ return hpotk.validate.ValidationRunner(validators)
diff --git a/tests/fixtures.py b/tests/fixtures.py
index 59b4476e..28414e1b 100644
--- a/tests/fixtures.py
+++ b/tests/fixtures.py
@@ -1,5 +1,3 @@
-import os
-
import hpotk
import pytest
@@ -123,8 +121,3 @@ def get_test_phenotypes():
return phenotypes
-
-@pytest.fixture
-def toy_hpo() -> hpotk.Ontology:
- path = os.path.join(os.path.dirname(os.path.abspath(__file__)), 'testingDefaults', 'hp.toy.json')
- return hpotk.ontology.load.obographs.load_ontology(path)
diff --git a/tests/test_analysis.py b/tests/test_analysis.py
index 37c239d7..169ef01e 100644
--- a/tests/test_analysis.py
+++ b/tests/test_analysis.py
@@ -16,13 +16,9 @@ class TestCommunistCohortAnalysis:
def toy_cohort(self) -> Cohort:
return get_toy_cohort()
- @pytest.fixture
- def hpo(self) -> hpotk.MinimalOntology:
- return hpotk.load_minimal_ontology('/home/ielis/data/ontologies/hpo/2023-07-21/hp.2023-07-21.json')
-
- def test_compare_by_variant_effect(self, toy_cohort: Cohort, hpo: hpotk.MinimalOntology):
+ def test_compare_by_variant_effect(self, toy_cohort: Cohort, toy_hpo: hpotk.MinimalOntology):
pd.set_option('expand_frame_repr', False)
- cohort_analysis = configure_cohort_analysis(toy_cohort, hpo)
+ cohort_analysis = configure_cohort_analysis(toy_cohort, toy_hpo)
results = cohort_analysis.compare_by_variant_effect(VariantEffect.MISSENSE_VARIANT, 'NM_1234.5')
- summary = results.summarize(hpo, BooleanPredicate.YES)
+ summary = results.summarize(toy_hpo, BooleanPredicate.YES)
print(summary)
diff --git a/tests/testingDefaults/README.md b/tests/test_data/README.md
similarity index 72%
rename from tests/testingDefaults/README.md
rename to tests/test_data/README.md
index 030bed21..39f321e7 100644
--- a/tests/testingDefaults/README.md
+++ b/tests/test_data/README.md
@@ -13,8 +13,8 @@ The module contains following descendants of *Phenotypic abnormality* and their
- Spasticity HP:0001257
- Chronic pancreatitis HP:0006280
-On top of *Phenotypic abnormality* descendants, the module contains the *Phenotypic abnormality* siblings
-(e.g. *Clinical modifier*, *Frequency*).
+On top of *Phenotypic abnormality* descendants, the module contains the *Phenotypic abnormality* siblings
+(e.g. *Clinical modifier*, *Frequency*).
Prepare the toy JSON by running the following [robot](https://robot.obolibrary.org) commands:
@@ -51,11 +51,11 @@ Extract other HPO branches:
```shell
OTHER_BRANCHES=(
-'HP:0012823' # Clinical modifier
-'HP:0040279' # Frequency
-'HP:0000005' # Mode of inheritance
-'HP:0032443' # Past medical history
-'HP:0032223' # Blood group
+'HP:0012823' # Clinical modifier
+'HP:0040279' # Frequency
+'HP:0000005' # Mode of inheritance
+'HP:0032443' # Past medical history
+'HP:0032223' # Blood group
)
for term in ${OTHER_BRANCHES[@]}; do
@@ -78,18 +78,3 @@ robot merge ${INPUTS} --output hp.toy.json
rm *.obo
```
-
-# Small HPO annotations file
-
-`phenotype.real-shortlist.hpoa` contains 2 diseases from the HPO annotation file.
-
-# Small HPO ontology
-
-The ontology that contains the terms used in `phenotype.real-shortlist.hpoa` annotation file.
-
-```shell
-robot extract --input-iri https://github.com/obophenotype/human-phenotype-ontology/releases/download/v2023-04-05/hp-base.owl \
- -T hp.small.term_ids.txt -o hp.small.owl --method BOT --copy-ontology-annotations true
-obographs convert -f json hp.small.owl
-rm hp.small.owl
-```
diff --git a/tests/testingDefaults/hp.toy.json b/tests/test_data/hp.toy.json
similarity index 100%
rename from tests/testingDefaults/hp.toy.json
rename to tests/test_data/hp.toy.json
diff --git a/tests/test_predicates.py b/tests/test_predicates.py
index 4eb2744e..b25688f4 100644
--- a/tests/test_predicates.py
+++ b/tests/test_predicates.py
@@ -8,7 +8,7 @@
from genophenocorr.analysis.predicate.phenotype import PropagatingPhenotypePredicate
from genophenocorr.model import Cohort, Patient, FeatureType, VariantEffect
-from .fixtures import toy_hpo, toy_cohort
+from .fixtures import toy_cohort
def find_patient(pat_id: str, cohort: Cohort) -> typing.Optional[Patient]:
diff --git a/tests/test_preprocessing.py b/tests/test_preprocessing.py
index f1be4c66..a00f714e 100644
--- a/tests/test_preprocessing.py
+++ b/tests/test_preprocessing.py
@@ -2,19 +2,15 @@
import pytest
-from genophenocorr.preprocessing import PhenopacketPatientCreator
+from genophenocorr.preprocessing import PhenopacketPatientCreator, PhenotypeCreator
from genophenocorr.preprocessing import configure_patient_creator, load_phenopacket
class TestPhenopacketPatientCreator:
@pytest.fixture
- def hpo(self) -> hpotk.MinimalOntology:
- return hpotk.load_minimal_ontology('testingDefaults/hp.json')
-
- @pytest.fixture
- def phenopacket_patient_creator(self, hpo: hpotk.MinimalOntology) -> PhenopacketPatientCreator:
- return configure_patient_creator(hpo)
+ def phenopacket_patient_creator(self, toy_hpo: hpotk.MinimalOntology) -> PhenopacketPatientCreator:
+ return configure_patient_creator(toy_hpo)
@pytest.mark.skip('Skipping online test')
def test_load_phenopacket(self, phenopacket_patient_creator: PhenopacketPatientCreator):
@@ -22,3 +18,17 @@ def test_load_phenopacket(self, phenopacket_patient_creator: PhenopacketPatientC
patient = phenopacket_patient_creator.create_patient(pp)
print(patient)
+
+class TestPhenotypeCreator:
+
+ @pytest.fixture
+ def creator(self, toy_hpo: hpotk.MinimalOntology,
+ toy_validation_runner: hpotk.validate.ValidationRunner) -> PhenotypeCreator:
+ return PhenotypeCreator(toy_hpo, toy_validation_runner)
+
+ def test_something(self, creator: PhenotypeCreator):
+ inputs = (
+ ('HP:0001250', True),
+ )
+ out = creator.process(inputs)
+ print(out)
diff --git a/tests/testingDefaults/hp.json b/tests/testingDefaults/hp.json
deleted file mode 100644
index b20c8a90..00000000
--- a/tests/testingDefaults/hp.json
+++ /dev/null
@@ -1,665028 +0,0 @@
-{
- "graphs": [
- {
- "edges": [
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000005"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000118"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012823"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0032223"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0032443"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000001",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0040279"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000002",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000098"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000002",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0004322"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000002",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012772"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000005",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0001426"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000005",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0001442"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000005",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0003745"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000005",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0034335"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000005",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0034345"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000008",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000130"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000008",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000137"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000008",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000142"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000008",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0011027"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000011"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000012"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000016"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000017"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000019"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000020"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000076"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000805"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0002839"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0005340"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0025488"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0041047"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0100515"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000009",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0100518"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000010",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012786"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000010",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012787"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000014",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000009"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000014",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0025487"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000015",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008691"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000015",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012619"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000020",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0010992"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000022",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008775"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000022",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0009714"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000022",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012872"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000025",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000026"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000025",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008669"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000025",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012206"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000027",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0011961"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000027",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0011962"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000027",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0011963"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000028",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008689"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000028",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012741"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000033"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000035"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000036"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000037"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000045"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000050"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000795"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008730"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000032",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0100848"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000034",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0100673"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000034",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_4000036"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000034",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_4000037"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000034",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_4000038"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000028"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000029"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0000034"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008715"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008720"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0008733"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0010470"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0010788"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0010789"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012215"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012646"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012860"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0012870"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0025038"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0025476"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0030868"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0030869"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0032404"
- },
- {
- "obj": "http://purl.obolibrary.org/obo/HP_0000035",
- "pred": "is_a",
- "sub": "http://purl.obolibrary.org/obo/HP_0033180"
- },
- {
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- "id": "http://purl.obolibrary.org/obo/RO_0002503",
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- "id": "http://purl.obolibrary.org/obo/BFO_0000050",
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- "id": "http://purl.obolibrary.org/obo/HP_0000001",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000006",
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- "definition": {
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- "definition": {
- "val": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).",
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- "id": "http://purl.obolibrary.org/obo/HP_0000008",
- "lbl": "Abnormal morphology of female internal genitalia",
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- "type": "CLASS"
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- "definition": {
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- "val": "SNOMEDCT_US:130951007"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000017",
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- "Often occuring as a result of heart insufficiency."
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- "definition": {
- "val": "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.",
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- "HPO:sdoelken"
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- "lbl": "Urinary hesitancy",
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- "ORCID:0000-0001-5208-3432"
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- "val": "SNOMEDCT_US:5972002"
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- "val": "UMLS:C0152032"
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- "type": "CLASS"
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- "comments": [
- "Urinary incontinence can be defined as the complaint of any involuntary leakage of urine."
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- "definition": {
- "val": "Loss of the ability to control the urinary bladder leading to involuntary urination.",
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- "HPO:sdoelken",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of bladder control",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bladder incontinence"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014549"
- },
- {
- "val": "SNOMEDCT_US:165232002"
- },
- {
- "val": "UMLS:C0042024"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000021",
- "lbl": "Megacystis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002838"
- }
- ],
- "definition": {
- "val": "Dilatation of the bladder postnatally.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C536139"
- },
- {
- "val": "UMLS:C1855311"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000022",
- "lbl": "Abnormal male internal genitalia morphology",
- "meta": {
- "comments": [
- "The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate."
- ],
- "definition": {
- "val": "An abnormality of the male internal genitalia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025899"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000023",
- "lbl": "Inguinal hernia",
- "meta": {
- "comments": [
- "Inguinal hernia appears as a bulge in the groin."
- ],
- "definition": {
- "val": "Protrusion of the contents of the abdominal cavity through the inguinal canal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10022016"
- },
- {
- "val": "MSH:D006552"
- },
- {
- "val": "SNOMEDCT_US:396232000"
- },
- {
- "val": "UMLS:C0019294"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000024",
- "lbl": "Prostatitis",
- "meta": {
- "definition": {
- "val": "The presence of inflammation of the prostate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammation of the prostate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011472"
- },
- {
- "val": "SNOMEDCT_US:9713002"
- },
- {
- "val": "UMLS:C0033581"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000025",
- "lbl": "Functional abnormality of male internal genitalia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025898"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000026",
- "lbl": "Male hypogonadism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008649"
- }
- ],
- "definition": {
- "val": "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased function of male gonad",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005058"
- },
- {
- "val": "SNOMEDCT_US:48723006"
- },
- {
- "val": "UMLS:C0151721"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000027",
- "lbl": "Azoospermia",
- "meta": {
- "definition": {
- "val": "Absence of any measurable level of sperm in his semen.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20514278"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent sperm in semen",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D053713"
- },
- {
- "val": "SNOMEDCT_US:425558002"
- },
- {
- "val": "SNOMEDCT_US:48188009"
- },
- {
- "val": "UMLS:C0004509"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000028",
- "lbl": "Cryptorchidism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000797"
- }
- ],
- "comments": [
- "The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment."
- ],
- "definition": {
- "val": "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23650202"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Undescended testes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Undescended testis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cryptorchism",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4493"
- },
- {
- "val": "MSH:D003456"
- },
- {
- "val": "SNOMEDCT_US:204878001"
- },
- {
- "val": "UMLS:C0010417"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000029",
- "lbl": "Testicular atrophy",
- "meta": {
- "definition": {
- "val": "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Testicular degeneration",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:17585008"
- },
- {
- "val": "UMLS:C0156312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000030",
- "lbl": "Testicular gonadoblastoma",
- "meta": {
- "definition": {
- "val": "The presence of a gonadoblastoma of the testis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Gonadoblastoma, male"
- }
- ],
- "xrefs": [
- {
- "val": "NCIT:C3754"
- },
- {
- "val": "UMLS:C1515283"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000031",
- "lbl": "Epididymitis",
- "meta": {
- "definition": {
- "val": "The presence of inflammation of the epididymis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004823"
- },
- {
- "val": "SNOMEDCT_US:31070006"
- },
- {
- "val": "UMLS:C0014534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000032",
- "lbl": "Abnormality of male external genitalia",
- "meta": {
- "definition": {
- "val": "An abnormality of male external genitalia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025897"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000033",
- "lbl": "Ambiguous genitalia, male",
- "meta": {
- "definition": {
- "val": "Ambiguous genitalia in an individual with XY genetic gender.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ambiguous genitalia in males"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021823"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000034",
- "lbl": "Hydrocele testis",
- "meta": {
- "definition": {
- "val": "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.",
- "xrefs": [
- "PMID:32644551"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Hydrocele"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Testicular hydrocele"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006848"
- },
- {
- "val": "SNOMEDCT_US:26614003"
- },
- {
- "val": "SNOMEDCT_US:386152007"
- },
- {
- "val": "SNOMEDCT_US:55434001"
- },
- {
- "val": "UMLS:C1720771"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000035",
- "lbl": "Abnormal testis morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the testicle (the male gonad).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the testis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the testes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:55631001"
- },
- {
- "val": "UMLS:C0266423"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000036",
- "lbl": "Abnormal penis morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the male external sex organ."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the penis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000037",
- "lbl": "Male pseudohermaphroditism",
- "meta": {
- "definition": {
- "val": "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D058490"
- },
- {
- "val": "SNOMEDCT_US:111332007"
- },
- {
- "val": "UMLS:C0238395"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000039",
- "lbl": "Epispadias",
- "meta": {
- "comments": [
- "Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately."
- ],
- "definition": {
- "val": "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23650202",
- "PMID:33085327"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:406477003"
- },
- {
- "val": "UMLS:C0563449"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000040",
- "lbl": "Long penis",
- "meta": {
- "comments": [
- "Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans."
- ],
- "definition": {
- "val": "Penile length more than 2 SD above the mean for age."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged penis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long penis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:88673001"
- },
- {
- "val": "UMLS:C0269011"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000041",
- "lbl": "Chordee",
- "meta": {
- "comments": [
- "The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately."
- ],
- "definition": {
- "val": "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23650202"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:4287008"
- },
- {
- "val": "UMLS:C0221182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000042",
- "lbl": "Absent external genitalia",
- "meta": {
- "definition": {
- "val": "Lack of external genitalia in a male or female individual.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent external genitalia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848869"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000044",
- "lbl": "Hypogonadotropic hypogonadism",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003335"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008224"
- }
- ],
- "definition": {
- "val": "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).",
- "xrefs": [
- "HPO:probinson",
- "PMID:23503957"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypogonadotrophic hypogonadism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low gonadotropins (secondary hypogonadism)"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Isolated hypogonadotropic hypogonadism"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007006"
- },
- {
- "val": "SNOMEDCT_US:33927004"
- },
- {
- "val": "UMLS:C0271623"
- },
- {
- "val": "UMLS:C3489396"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000045",
- "lbl": "Abnormality of the scrotum",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025895"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000046",
- "lbl": "Small scrotum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0030276"
- }
- ],
- "comments": [
- "A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum."
- ],
- "definition": {
- "val": "Apparently small scrotum for age.",
- "xrefs": [
- "PMID:23650202"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped scrotum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Smaller than typical growth of scrotum",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic scrotum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scrotal hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204912007"
- },
- {
- "val": "UMLS:C0431659"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000047",
- "lbl": "Hypospadias",
- "meta": {
- "definition": {
- "val": "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21968448"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypospadia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4504"
- },
- {
- "val": "SNOMEDCT_US:204888000"
- },
- {
- "val": "UMLS:C1691215"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000048",
- "lbl": "Bifid scrotum",
- "meta": {
- "comments": [
- "A testis may or may not be present in each half of the scrotum."
- ],
- "definition": {
- "val": "Midline indentation or cleft of the scrotum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23650202"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft of scrotum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scrotal cleft"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:236780002"
- },
- {
- "val": "UMLS:C0341787"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000049",
- "lbl": "Shawl scrotum",
- "meta": {
- "comments": [
- "A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead."
- ],
- "definition": {
- "val": "Superior margin of the scrotum superior to the base of the penis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23650202"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Scrotum surrounds penis",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Overriding scrotum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858539"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000050",
- "lbl": "Hypoplastic male external genitalia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008710"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008721"
- }
- ],
- "definition": {
- "val": "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small male external genitalia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped male genitalia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic male genitalia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1852534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000051",
- "lbl": "Perineal hypospadias",
- "meta": {
- "definition": {
- "val": "Hypospadias with location of the urethral meatus in the perineal region.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8097257"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204890004"
- },
- {
- "val": "UMLS:C0452148"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000052",
- "lbl": "Urethral atresia, male",
- "meta": {
- "definition": {
- "val": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025894"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000053",
- "lbl": "Macroorchidism",
- "meta": {
- "definition": {
- "val": "The presence of abnormally large testes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large testis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large testicles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1263023"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000054",
- "lbl": "Micropenis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000038"
- }
- ],
- "definition": {
- "val": "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15102623"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short penis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small penis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:34911001"
- },
- {
- "val": "UMLS:C4551492"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000055",
- "lbl": "Abnormality of female external genitalia",
- "meta": {
- "definition": {
- "val": "An abnormality of the female external genitalia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal female external genitalia",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000056",
- "lbl": "Abnormality of the clitoris",
- "meta": {
- "definition": {
- "val": "An abnormality of the clitoris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the clit",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025893"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000057",
- "lbl": "obsolete Clitoromegaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0008665"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000058",
- "lbl": "Abnormal labia morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the labia, the externally visible portions of the vulva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the labia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025892"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000059",
- "lbl": "Hypoplastic labia majora",
- "meta": {
- "definition": {
- "val": "Undergrowth of the outer labia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small labia majora"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped vaginal lips",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of labia majora"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:289469003"
- },
- {
- "val": "UMLS:C0566899"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000060",
- "lbl": "Clitoral hypoplasia",
- "meta": {
- "definition": {
- "val": "Developmental hypoplasia of the clitoris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small clitoris"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped clit",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic clitoris"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844527"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000061",
- "lbl": "Ambiguous genitalia, female",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008690"
- }
- ],
- "definition": {
- "val": "Ambiguous genitalia in an individual with XX genetic gender.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Atypical appearance of female genitals",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Ambiguous genitalia due to virilization"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859980"
- },
- {
- "val": "UMLS:C4025891"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000062",
- "lbl": "Ambiguous genitalia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008693"
- }
- ],
- "comments": [
- "Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome."
- ],
- "definition": {
- "val": "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15102623"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ambiguous external genitalia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ambiguous external genitalia at birth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intersex genitalia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012734"
- },
- {
- "val": "SNOMEDCT_US:21321009"
- },
- {
- "val": "UMLS:C0266362"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000063",
- "lbl": "Fused labia minora",
- "meta": {
- "definition": {
- "val": "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused inner lips",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000064",
- "lbl": "Hypoplastic labia minora",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped inner lips",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849295"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000065",
- "lbl": "Labial hypertrophy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of the labia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of the vaginal lips",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged vaginal lips"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:16924008"
- },
- {
- "val": "UMLS:C0404531"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000066",
- "lbl": "Labial hypoplasia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped labia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic labia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850325"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000067",
- "lbl": "Urethral atresia, female",
- "meta": {
- "definition": {
- "val": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000068",
- "lbl": "Urethral atresia",
- "meta": {
- "definition": {
- "val": "Congenital anomaly characterized by closure or failure to develop an opening in the urethra.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent urethral opening"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Urethral opening absent"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1610065"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000069",
- "lbl": "Abnormality of the ureter",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006001"
- }
- ],
- "definition": {
- "val": "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the ureters"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ureter issue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ureteral anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840382"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000070",
- "lbl": "Ureterocele",
- "meta": {
- "definition": {
- "val": "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.",
- "xrefs": [
- "eMedicine:453993"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D014518"
- },
- {
- "val": "SNOMEDCT_US:12818004"
- },
- {
- "val": "UMLS:C0041960"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000071",
- "lbl": "Ureteral stenosis",
- "meta": {
- "definition": {
- "val": "The presence of a stenotic, i.e., constricted ureter.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of the ureter",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95574003"
- },
- {
- "val": "UMLS:C0521618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000072",
- "lbl": "Hydroureter",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006003"
- }
- ],
- "definition": {
- "val": "The distention of the ureter with urine.",
- "xrefs": [
- "HPO:probinson",
- "PMID:33085364"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dilated ureter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megaureter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ureteral dilatation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide ureter"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Uroureter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Swelling of ureter",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:69758005"
- },
- {
- "val": "SNOMEDCT_US:95576001"
- },
- {
- "val": "UMLS:C0521620"
- },
- {
- "val": "UMLS:C4020897"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000073",
- "lbl": "Ureteral duplication",
- "meta": {
- "definition": {
- "val": "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Double ureter"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:49496001"
- },
- {
- "val": "UMLS:C0221365"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000074",
- "lbl": "Ureteropelvic junction obstruction",
- "meta": {
- "definition": {
- "val": "Blockage of urine flow from the renal pelvis to the proximal ureter.",
- "xrefs": [
- "Eurenomics:ewuehl"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pelviureteric junction obstruction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ureteropelvic junction stenosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537373"
- },
- {
- "val": "SNOMEDCT_US:95575002"
- },
- {
- "val": "UMLS:C0521619"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000075",
- "lbl": "Renal duplication",
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- "val": "Supernumerary kidney"
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- "val": "SNOMEDCT_US:30275001"
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- "val": "UMLS:C0266298"
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- "id": "http://purl.obolibrary.org/obo/HP_0000076",
- "lbl": "Vesicoureteral reflux",
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- "lbl": "Abnormality of the genital system",
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- "val": "An abnormality of the genital system.",
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- "val": "Abnormality of the reproductive system"
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- "val": "UMLS:C0744356"
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- "id": "http://purl.obolibrary.org/obo/HP_0000079",
- "lbl": "Abnormality of the urinary system",
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- "val": "An abnormality of the urinary system.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000080",
- "lbl": "Abnormality of reproductive system physiology",
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- "definition": {
- "val": "An abnormal functionality of the genital system.",
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- "val": "Genital functional abnormality"
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- "val": "UMLS:C4020896"
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- "val": "UMLS:C4021820"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000081",
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- "definition": {
- "val": "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.",
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- "lbl": "Horseshoe kidney",
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- "lbl": "Ectopic kidney",
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- "pred": "hasExactSynonym",
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- "id": "http://purl.obolibrary.org/obo/HP_0000089",
- "lbl": "Renal hypoplasia",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000095",
- "lbl": "Abnormal renal glomerulus morphology",
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- "comments": [
- "Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation."
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- "definition": {
- "val": "A structural anomaly of the glomerulus.",
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- "val": "Morphologic abnormality of the renal glomerulus"
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- "val": "UMLS:C4025889"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000096",
- "lbl": "Glomerular sclerosis",
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- "val": "Accumulation of scar tissue within the glomerulus.",
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- "synonyms": [
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- "val": "Renal glomerular fibrosis"
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- "pred": "hasExactSynonym",
- "val": "Glomerulosclerosis"
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- "val": "SNOMEDCT_US:82646005"
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- "type": "CLASS"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003516"
- }
- ],
- "definition": {
- "val": "A height above that which is expected according to age and gender norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased body height"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tall stature"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Accelerated linear growth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased linear growth"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248328003"
- },
- {
- "val": "UMLS:C0241240"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000099",
- "lbl": "Glomerulonephritis",
- "meta": {
- "definition": {
- "val": "Inflammation of the renal glomeruli.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Glomerular nephritis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005921"
- },
- {
- "val": "SNOMEDCT_US:36171008"
- },
- {
- "val": "UMLS:C0017658"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000100",
- "lbl": "Nephrotic syndrome",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000801"
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- "val": "HP:0004718"
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- "val": "HP:0008638"
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- "val": "HP:0008727"
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- ],
- "comments": [
- "In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl."
- ],
- "definition": {
- "val": "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nephrosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009404"
- },
- {
- "val": "SNOMEDCT_US:52254009"
- },
- {
- "val": "UMLS:C0027726"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000103",
- "lbl": "Polyuria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200060"
- }
- ],
- "comments": [
- "An excessive volume of urination for an adult is more than 2.5 liters of urine per day."
- ],
- "definition": {
- "val": "An increased rate of urine production.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased urine output"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011141"
- },
- {
- "val": "SNOMEDCT_US:28442001"
- },
- {
- "val": "SNOMEDCT_US:56574000"
- },
- {
- "val": "SNOMEDCT_US:718402002"
- },
- {
- "val": "UMLS:C0032617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000104",
- "lbl": "Renal agenesis",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000785"
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- "val": "HP:0004745"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008680"
- }
- ],
- "comments": [
- "Renal agenesis can occur as a unilateral or bilateral trait."
- ],
- "definition": {
- "val": "Agenesis, that is, failure of the kidney to develop during embryogenesis and development.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent kidney"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing kidney",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal aplasia"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4503"
- },
- {
- "val": "SNOMEDCT_US:204942005"
- },
- {
- "val": "UMLS:C0542519"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000105",
- "lbl": "Enlarged kidney",
- "meta": {
- "comments": [
- "The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography."
- ],
- "definition": {
- "val": "An abnormal increase in the size of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged kidney"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large kidneys"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nephromegaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal enlargement"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Large kidney"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:300444006"
- },
- {
- "val": "UMLS:C0542518"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000107",
- "lbl": "Renal cyst",
- "meta": {
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- "val": "HP:0000088"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000109"
- }
- ],
- "definition": {
- "val": "A fluid filled sac in the kidney.",
- "xrefs": [
- "Eurenomics:fschaefer"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cystic kidney disease"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Kidney cyst",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cystic kidneys",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Renal cysts",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D052177"
- },
- {
- "val": "UMLS:C0022679"
- },
- {
- "val": "UMLS:C3887499"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000108",
- "lbl": "Renal corticomedullary cysts",
- "meta": {
- "definition": {
- "val": "The presence of multiple cysts at the border between the renal cortex and medulla.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Corticomedullary renal cysts"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Renal corticomedullary cystic disease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968619"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000110",
- "lbl": "Renal dysplasia",
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- "basicPropertyValues": [
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- "val": "HP:0000116"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004721"
- }
- ],
- "definition": {
- "val": "The presence of developmental dysplasia of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dysplastic kidneys"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal adysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563261"
- },
- {
- "val": "SNOMEDCT_US:204949001"
- },
- {
- "val": "UMLS:C1619700"
- },
- {
- "val": "UMLS:C3536714"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000111",
- "lbl": "Renal juxtaglomerular cell hypertrophy/hyperplasia",
- "meta": {
- "definition": {
- "val": "Increased number and size of the juxtaglomerular cells.",
- "xrefs": [
- "Eurenomics:ewuehl"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000112",
- "lbl": "Nephropathy",
- "meta": {
- "definition": {
- "val": "A nonspecific term referring to disease or damage of the kidneys.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Kidney damage",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Kidney disease",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007674"
- },
- {
- "val": "SNOMEDCT_US:90708001"
- },
- {
- "val": "UMLS:C0022658"
- },
- {
- "val": "UMLS:C1408258"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000113",
- "lbl": "Polycystic kidney dysplasia",
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- "val": "HP:0004739"
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- "val": "HP:0004740"
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- "val": "HP:0008645"
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- "val": "HP:0008673"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008699"
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- ],
- "comments": [
- "Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys."
- ],
- "definition": {
- "val": "The presence of multiple cysts in both kidneys.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged polycystic kidneys"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polycystic kidneys"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Polycystic kidney disease"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4508"
- },
- {
- "val": "MSH:D007690"
- },
- {
- "val": "SNOMEDCT_US:82525005"
- },
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- "val": "UMLS:C0022680"
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- {
- "val": "UMLS:C1567435"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000114",
- "lbl": "Proximal tubulopathy",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000806"
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- ],
- "definition": {
- "val": "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Proximal renal tubule defect"
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- {
- "pred": "hasExactSynonym",
- "val": "Proximal renal tubulopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Proximal tubular defect"
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- {
- "pred": "hasExactSynonym",
- "val": "Proximal tubule dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Selective proximal tubular damage"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839603"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000117",
- "lbl": "Renal phosphate wasting",
- "meta": {
- "definition": {
- "val": "High urine phosphate in the presence of hypophosphatemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased renal tubular phosphate reabsorption"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tubular phosphate reabsorption low"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845169"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000118",
- "lbl": "Phenotypic abnormality",
- "meta": {
- "comments": [
- "This is the root of the phenotypic abnormality subontology of the HPO."
- ],
- "definition": {
- "val": "A phenotypic abnormality.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Organ abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021819"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000119",
- "lbl": "Abnormality of the genitourinary system",
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- "val": "HP:0008688"
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- "val": "HP:0008704"
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- "val": "HP:0008713"
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- ],
- "definition": {
- "val": "The presence of any abnormality of the genitourinary system.",
- "xrefs": [
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Genitourinary abnormality"
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- "pred": "hasExactSynonym",
- "val": "Genitourinary tract anomalies"
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- {
- "pred": "hasExactSynonym",
- "val": "Genitourinary tract malformation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Urogenital abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Urogenital anomalies"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Genitourinary disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Genitourinary dysplasia"
- }
- ],
- "xrefs": [
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- "val": "MSH:D014564"
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- {
- "val": "SNOMEDCT_US:287085006"
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- "val": "SNOMEDCT_US:42030000"
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- {
- "val": "UMLS:C0042063"
- },
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- "val": "UMLS:C0080276"
- },
- {
- "val": "UMLS:C4020895"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000121",
- "lbl": "Nephrocalcinosis",
- "meta": {
- "comments": [
- "Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content."
- ],
- "definition": {
- "val": "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Too much calcium deposited in kidneys",
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- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased calcium level in kidney",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009397"
- },
- {
- "val": "SNOMEDCT_US:48638002"
- },
- {
- "val": "UMLS:C0027709"
- },
- {
- "val": "UMLS:C4280679"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000122",
- "lbl": "Unilateral renal agenesis",
- "meta": {
- "definition": {
- "val": "A unilateral form of agenesis of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Single kidney"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent kidney on one side",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing one kidney",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Unilateral kidney agenesis"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4509"
- },
- {
- "val": "SNOMEDCT_US:55726006"
- },
- {
- "val": "UMLS:C0266294"
- }
- ]
- },
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- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000123",
- "lbl": "Nephritis",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008634"
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- ],
- "definition": {
- "val": "The presence of inflammation affecting the kidney.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Kidney inflammation",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009393"
- },
- {
- "val": "SNOMEDCT_US:52845002"
- },
- {
- "val": "UMLS:C0027697"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000124",
- "lbl": "Renal tubular dysfunction",
- "meta": {
- "definition": {
- "val": "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal function of filtrating structures in kidney",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal tubular defect"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Renal tubular disease"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95568003"
- },
- {
- "val": "UMLS:C0151747"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000125",
- "lbl": "Pelvic kidney",
- "meta": {
- "definition": {
- "val": "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Sacral kidney",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:56108007"
- },
- {
- "val": "UMLS:C0221209"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000126",
- "lbl": "Hydronephrosis",
- "meta": {
- "comments": [
- "Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed."
- ],
- "definition": {
- "val": "Severe distention of the kidney with dilation of the renal pelvis and calices.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "Fyler:4502"
- },
- {
- "val": "MSH:D006869"
- },
- {
- "val": "SNOMEDCT_US:43064006"
- },
- {
- "val": "UMLS:C0020295"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000127",
- "lbl": "Renal salt wasting",
- "meta": {
- "definition": {
- "val": "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).",
- "xrefs": [
- "Eurenomics:fschaefer"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of salt in urine",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal salt-wasting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Salt wasting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Salt-wasting"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846347"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000128",
- "lbl": "Renal potassium wasting",
- "meta": {
- "comments": [
- "A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting."
- ],
- "definition": {
- "val": "High urine potassium in the presence of hypokalemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Renal K wasting"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846348"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000130",
- "lbl": "Abnormality of the uterus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008630"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008692"
- }
- ],
- "definition": {
- "val": "An abnormality of the uterus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the uterus"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uterine abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uterine malformations"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562565"
- },
- {
- "val": "SNOMEDCT_US:37849005"
- },
- {
- "val": "UMLS:C0266383"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000131",
- "lbl": "Uterine leiomyoma",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008642"
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- ],
- "comments": [
- "Leiomyoma is a benign neoplasm derived from smooth muscle cells."
- ],
- "definition": {
- "val": "The presence of a leiomyoma of the uterus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Benign uterine leiomyomas"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Uterine fibroid"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007889"
- },
- {
- "val": "NCIT:C3157"
- },
- {
- "val": "SNOMEDCT_US:146801000119103"
- },
- {
- "val": "SNOMEDCT_US:44598004"
- },
- {
- "val": "SNOMEDCT_US:95315005"
- },
- {
- "val": "UMLS:C0042133"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000132",
- "lbl": "Menorrhagia",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100609"
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- ],
- "definition": {
- "val": "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.",
- "xrefs": [
- "HPO:probinson",
- "PMID:22594864"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally heavy periods"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally heavy bleeding during menstruation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypermenorrhea",
- "xrefs": [
- "PMID:22594864"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008595"
- },
- {
- "val": "SNOMEDCT_US:386692008"
- },
- {
- "val": "UMLS:C0025323"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000133",
- "lbl": "Gonadal dysgenesis",
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- "val": "HP:0003243"
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- "pred": "hasExactSynonym",
- "val": "Mixed gonadal dysgenesis"
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- {
- "pred": "hasExactSynonym",
- "val": "Pure gonadal dysgenesis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006059"
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- {
- "val": "MSH:D006060"
- },
- {
- "val": "SNOMEDCT_US:205681004"
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- {
- "val": "SNOMEDCT_US:38804009"
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- {
- "val": "SNOMEDCT_US:83579008"
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- {
- "val": "SNOMEDCT_US:95219002"
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- {
- "val": "UMLS:C0018051"
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- {
- "val": "UMLS:C0018055"
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- {
- "val": "UMLS:C0687149"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000134",
- "lbl": "Female hypogonadism",
- "meta": {
- "definition": {
- "val": "Decreased functionality of the female gonads, i.e., of the ovary.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypogonadism, female"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:16041008"
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- {
- "val": "UMLS:C0271578"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000135",
- "lbl": "Hypogonadism",
- "meta": {
- "comments": [
- "Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones."
- ],
- "definition": {
- "val": "A decreased functionality of the gonad.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased activity of gonads",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007006"
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- {
- "val": "SNOMEDCT_US:48130008"
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- {
- "val": "UMLS:C0020619"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000136",
- "lbl": "Bifid uterus",
- "meta": {
- "comments": [
- "A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts."
- ],
- "definition": {
- "val": "The presence of a bifid uterus.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1850327"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000137",
- "lbl": "Abnormality of the ovary",
- "meta": {
- "definition": {
- "val": "An abnormality of the ovary.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the ovaries"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the ovary"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ovarian disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010049"
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- {
- "val": "SNOMEDCT_US:5552004"
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- {
- "val": "UMLS:C0029928"
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- {
- "val": "UMLS:C4021818"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000138",
- "lbl": "Ovarian cyst",
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- "val": "HP:0000146"
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- ],
- "definition": {
- "val": "The presence of one or more cysts of the ovary.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ovarian cyst"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cystic abnormalities of the ovaries"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cystic ovaries"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ovarian cystic abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010048"
- },
- {
- "val": "SNOMEDCT_US:79883001"
- },
- {
- "val": "UMLS:C0029927"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000139",
- "lbl": "Uterine prolapse",
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- "basicPropertyValues": [
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- "val": "HP:0100824"
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- ],
- "comments": [
- "The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position."
- ],
- "definition": {
- "val": "The presence of prolapse of the uterus.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Sagging uterus",
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- "ORCID:0000-0001-6908-9849"
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- "xrefs": [
- {
- "val": "MSH:D014596"
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- {
- "val": "SNOMEDCT_US:24976005"
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- {
- "val": "UMLS:C0042140"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000140",
- "lbl": "Abnormality of the menstrual cycle",
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- "definition": {
- "val": "An abnormality of the ovulation cycle.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23281358"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the menstrual cycle"
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Menstrual abnormalities"
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- ],
- "xrefs": [
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- "val": "UMLS:C3549779"
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- {
- "val": "UMLS:C4025888"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000141",
- "lbl": "Amenorrhea",
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- "definition": {
- "val": "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.",
- "xrefs": [
- "PMID:22594864"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal absence of menstruation",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2219717"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000142",
- "lbl": "Abnormal vagina morphology",
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- "val": "HP:0008650"
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- ],
- "definition": {
- "val": "Any structural abnormality of the vagina.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Vaginal malformation"
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- ],
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- {
- "val": "UMLS:C1856023"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000143",
- "lbl": "Rectovaginal fistula",
- "meta": {
- "definition": {
- "val": "The presence of a fistula between the vagina and the rectum.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
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- "val": "Abnormal connection between rectum and vagina",
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- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10051097"
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- {
- "val": "MSH:D012006"
- },
- {
- "val": "SNOMEDCT_US:65619001"
- },
- {
- "val": "UMLS:C0034895"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000144",
- "lbl": "Decreased fertility",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal fertility",
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- "HPO:skoehler"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:17276009"
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- {
- "val": "UMLS:C0520927"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000145",
- "lbl": "Transverse vaginal septum",
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- "val": "Transverse vaginal membrane"
- }
- ],
- "xrefs": [
- {
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000147",
- "lbl": "Polycystic ovaries",
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- "val": "HP:0008657"
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- ],
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Polycystic ovary"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerocystic ovaries"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Polycystic ovary disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011085"
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- {
- "val": "SNOMEDCT_US:69878008"
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- {
- "val": "UMLS:C0032460"
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- {
- "val": "UMLS:C1136382"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000148",
- "lbl": "Vaginal atresia",
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- "definition": {
- "val": "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.",
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- "HPO:probinson"
- ]
- },
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally closed or absent vagina",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:87380008"
- },
- {
- "val": "UMLS:C1321884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000149",
- "lbl": "Ovarian gonadoblastoma",
- "meta": {
- "comments": [
- "Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development."
- ],
- "definition": {
- "val": "The presence of a gonadoblastoma of the ovary.",
- "xrefs": [
- "HPO:probinson",
- "eMedicine:986581"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gonadoblastoma, female"
- }
- ],
- "xrefs": [
- {
- "val": "NCIT:C3754"
- },
- {
- "val": "SNOMEDCT_US:716594002"
- },
- {
- "val": "UMLS:C1518716"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000150",
- "lbl": "Gonadoblastoma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006745"
- }
- ],
- "definition": {
- "val": "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D018238"
- },
- {
- "val": "NCIT:C3754"
- },
- {
- "val": "SNOMEDCT_US:74751003"
- },
- {
- "val": "UMLS:C0206661"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000151",
- "lbl": "Aplasia of the uterus",
- "meta": {
- "definition": {
- "val": "Aplasia of the uterus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent uterus"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "uterus absent"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248942000"
- },
- {
- "val": "UMLS:C0425913"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000152",
- "lbl": "Abnormality of head or neck",
- "meta": {
- "definition": {
- "val": "An abnormality of head and neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of head or neck"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Head and neck abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021817"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000153",
- "lbl": "Abnormality of the mouth",
- "meta": {
- "definition": {
- "val": "An abnormality of the mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal mouth",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009056"
- },
- {
- "val": "SNOMEDCT_US:128334002"
- },
- {
- "val": "UMLS:C0026633"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000154",
- "lbl": "Wide mouth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000181"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002052"
- }
- ],
- "comments": [
- "The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft."
- ],
- "definition": {
- "val": "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide mouth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrostomia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large oral aperture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008265"
- },
- {
- "val": "SNOMEDCT_US:40159009"
- },
- {
- "val": "UMLS:C0024433"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000155",
- "lbl": "Oral ulcer",
- "meta": {
- "definition": {
- "val": "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mouth sore",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mouth ulcer",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral mucosal ulceration"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D019226"
- },
- {
- "val": "SNOMEDCT_US:26284000"
- },
- {
- "val": "UMLS:C0149745"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000157",
- "lbl": "Abnormality of the tongue",
- "meta": {
- "definition": {
- "val": "Any abnormality of the tongue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the tongue"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tongue abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal tongue",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glossal abnormality",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual abnormality",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0878638"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000158",
- "lbl": "Macroglossia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000203"
- }
- ],
- "comments": [
- "Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue."
- ],
- "definition": {
- "val": "Increased length and width of the tongue.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large tongue"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally large tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplasia of the tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypertrophy of the tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tongue hypertrophy"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Glossal hypertrophy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Lingual hyperplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Lingual hypertrophy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008260"
- },
- {
- "val": "SNOMEDCT_US:25273001"
- },
- {
- "val": "UMLS:C0024421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000159",
- "lbl": "Abnormal lip morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the lip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lip abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal lip",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2183966"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000160",
- "lbl": "Narrow mouth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002261"
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- "val": "HP:0009095"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009096"
- }
- ],
- "comments": [
- "The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width."
- ],
- "definition": {
- "val": "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small mouth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microstomia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small oral aperture"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008865"
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- {
- "val": "SNOMEDCT_US:14582003"
- },
- {
- "val": "UMLS:C0026034"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000161",
- "lbl": "Median cleft lip",
- "meta": {
- "definition": {
- "val": "A type of cleft lip presenting as a midline (median) gap in the upper lip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Central cleft upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Midline cleft lip"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1850256"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000162",
- "lbl": "Glossoptosis",
- "meta": {
- "comments": [
- "Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway."
- ],
- "definition": {
- "val": "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retraction of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Posterior displacement of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual retraction",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D065710"
- },
- {
- "val": "SNOMEDCT_US:3639002"
- },
- {
- "val": "UMLS:C0267048"
- },
- {
- "val": "UMLS:C4280678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000163",
- "lbl": "Abnormal oral cavity morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the oral cavity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025887"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000164",
- "lbl": "Abnormality of the dentition",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- "val": "HP:0006296"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006348"
- }
- ],
- "comments": [
- "Any abnormality of the primary (deciduous) or permanent teeth."
- ],
- "definition": {
- "val": "Any abnormality of the teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal dentition"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Dental abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Dental anomalies"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the teeth"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental problem"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tooth abnormalities"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Dental problems"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014071"
- },
- {
- "val": "SNOMEDCT_US:422775003"
- },
- {
- "val": "UMLS:C0040427"
- },
- {
- "val": "UMLS:C0262444"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000166",
- "lbl": "Severe periodontitis",
- "meta": {
- "definition": {
- "val": "A severe form of periodontitis.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severe gum disease",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Severe periodontal disease",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Severe pyorrhea",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025886"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000168",
- "lbl": "Abnormality of the gingiva",
- "meta": {
- "comments": [
- "The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth."
- ],
- "definition": {
- "val": "Any abnormality of the gingiva (also known as gums).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the gums",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021816"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000169",
- "lbl": "Gingival fibromatosis",
- "meta": {
- "comments": [
- "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported."
- ],
- "definition": {
- "val": "The presence of fibrosis of the gingiva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gingival fibroma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival fibrous nodules",
- "xrefs": [
- "HPO:curators"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hereditary gingival fibromatosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Idiopathic gingival hyperplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562884"
- },
- {
- "val": "MSH:D005351"
- },
- {
- "val": "NCIT:C3041"
- },
- {
- "val": "SNOMEDCT_US:109620006"
- },
- {
- "val": "SNOMEDCT_US:58569000"
- },
- {
- "val": "UMLS:C0016049"
- },
- {
- "val": "UMLS:C0399440"
- },
- {
- "val": "UMLS:C4280677"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000171",
- "lbl": "Microglossia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000226"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009079"
- }
- ],
- "comments": [
- "Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained."
- ],
- "definition": {
- "val": "Decreased length and width of the tongue.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally small tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoglossia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rudimentary tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small tongue"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014060"
- },
- {
- "val": "SNOMEDCT_US:249380003"
- },
- {
- "val": "SNOMEDCT_US:32614006"
- },
- {
- "val": "UMLS:C0025988"
- },
- {
- "val": "UMLS:C0426492"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000172",
- "lbl": "Abnormal uvula morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the uvula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of palatine uvula",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025885"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000174",
- "lbl": "Abnormal palate morphology",
- "meta": {
- "definition": {
- "val": "Any abnormality of the palate, i.e., of roof of the mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the palate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the roof of the mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palate abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palatal anomaly",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021815"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000175",
- "lbl": "Cleft palate",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0410004"
- }
- ],
- "comments": [
- "Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate."
- ],
- "definition": {
- "val": "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft palate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft roof of mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Cleft secondary palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft hard and soft palate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft of hard and soft palate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft of palate",
- "xrefs": [
- "Facebase"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palatoschisis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Uranostaphyloschisis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4876"
- },
- {
- "val": "MSH:D002972"
- },
- {
- "val": "SNOMEDCT_US:63567004"
- },
- {
- "val": "SNOMEDCT_US:87979003"
- },
- {
- "val": "UMLS:C0008925"
- },
- {
- "val": "UMLS:C2981150"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000176",
- "lbl": "Submucous cleft hard palate",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000208"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002746"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009091"
- }
- ],
- "definition": {
- "val": "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19779505"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Submucosal cleft palate"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Submucous clefting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial thickness cleft hard palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:43437003"
- },
- {
- "val": "UMLS:C0432103"
- },
- {
- "val": "UMLS:C4020894"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000177",
- "lbl": "Abnormal upper lip morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the upper lip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of upper lip"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000178",
- "lbl": "Abnormal lower lip morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the lower lip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of lower lip"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025883"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000179",
- "lbl": "Thick lower lip vermilion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000170"
- }
- ],
- "comments": [
- "Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately."
- ],
- "definition": {
- "val": "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).",
- "xrefs": [
- "HPO:curators",
- "PMID:19125428"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent lower lip"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Full lower lip"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick lower lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased volume of lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Plump lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick red part of the lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thick vermilion border of lower lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Full lower lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased height of lower lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased volume of lower lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Prominent lower lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839739"
- },
- {
- "val": "UMLS:C2053437"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000180",
- "lbl": "Lobulated tongue",
- "meta": {
- "comments": [
- "Lobulated tongue can bilobed, trilobed, or show multiple lobes."
- ],
- "definition": {
- "val": "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bumpy tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lobulate tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual lobules",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253752000"
- },
- {
- "val": "UMLS:C0431564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000182",
- "lbl": "Movement abnormality of the tongue",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Movement abnormality of the tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of lingual movement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000183",
- "lbl": "Difficulty in tongue movements",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty in tongue movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Difficulty in lingual movements",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypokinesia of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Lingual hypokinesia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853406"
- },
- {
- "val": "UMLS:C4280676"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000185",
- "lbl": "Cleft soft palate",
- "meta": {
- "definition": {
- "val": "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cleft muscular palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft of soft palate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft velum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562950"
- },
- {
- "val": "SNOMEDCT_US:253997002"
- },
- {
- "val": "UMLS:C0432098"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000187",
- "lbl": "Broad alveolar ridges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide gum ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad alveolar margins"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened alveolar ridges"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Broad alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Wide alveolar margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Wide alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857500"
- },
- {
- "val": "UMLS:C4280675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000188",
- "lbl": "Short upper lip",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200087"
- }
- ],
- "definition": {
- "val": "Decreased width of the upper lip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased height of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vertical length of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortening of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased upper labial height",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased upper labial length",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical deficiency of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848977"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000189",
- "lbl": "Narrow palate",
- "meta": {
- "comments": [
- "Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow."
- ],
- "definition": {
- "val": "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow palate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow roof of mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased palatal width",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased transverse dimension of palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1398312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000190",
- "lbl": "Abnormal oral frenulum morphology",
- "meta": {
- "comments": [
- "A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum."
- ],
- "definition": {
- "val": "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23633765"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of oral frenula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of frenum of tongue",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of lingual frenum",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of oral frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025881"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000191",
- "lbl": "Accessory oral frenulum",
- "meta": {
- "comments": [
- "This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately."
- ],
- "definition": {
- "val": "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Extra oral frenulum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple oral frenula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supernumerary oral frenulum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Accessory oral frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extra oral frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supernumerary oral frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021814"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000193",
- "lbl": "Bifid uvula",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000173"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0410032"
- }
- ],
- "definition": {
- "val": "Uvula separated into two parts most easily seen at the tip.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cleft of uvula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft uvula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Uvula bifida"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bifid palatine uvula",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Forked uvula",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Split uvula",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:18910001"
- },
- {
- "val": "UMLS:C0266122"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000194",
- "lbl": "Open mouth",
- "meta": {
- "definition": {
- "val": "A facial appearance characterized by a permanently or nearly permanently opened mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Open mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gaped jawed appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gaped mouthed appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slack jawed appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Open mouth appearance",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:262016004"
- },
- {
- "val": "UMLS:C0240379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000196",
- "lbl": "Lower lip pit",
- "meta": {
- "comments": [
- "A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit)."
- ],
- "definition": {
- "val": "Depression located on the vermilion of the lower lip, usually paramedian.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:19125428"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1861544"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000197",
- "lbl": "Abnormal parotid gland morphology",
- "meta": {
- "definition": {
- "val": "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of parotid gland"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the parotid gland",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025880"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000198",
- "lbl": "Absence of Stensen duct",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent stensen duct"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absence of parotid duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of parotid duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of stensen duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Missing parotid duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Missing stensen duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Agenesis of parotid duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Agenesis of stensen duct",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858569"
- },
- {
- "val": "UMLS:C4280674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000199",
- "lbl": "Tongue nodules",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lingual nodules",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0241438"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000200",
- "lbl": "Short lingual frenulum",
- "meta": {
- "definition": {
- "val": "The presence of an abnormally short lingual frenulum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Short tongue frenulum"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypoplasia of lingual frenulum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypoplasia of lingual frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypoplasia of tongue frenulum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypoplasia of tongue frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deficiency of lingual frenulum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short lingual frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short tongue frenum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tight lingual frenulum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249388005"
- },
- {
- "val": "UMLS:C0426501"
- },
- {
- "val": "UMLS:C4280673"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000201",
- "lbl": "Pierre-Robin sequence",
- "meta": {
- "definition": {
- "val": "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pierre Robin sequence"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Robin sequence"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pierre-robin anomaly",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pierre-robin deformity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pierre-robin malformation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010855"
- },
- {
- "val": "SNOMEDCT_US:4602007"
- },
- {
- "val": "UMLS:C0031900"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000202",
- "lbl": "Oral cleft",
- "meta": {
- "definition": {
- "val": "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21331089"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft of the mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral clefting"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Cleft lip, cleft palate"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cleft lip/palate"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253983005"
- },
- {
- "val": "SNOMEDCT_US:66948001"
- },
- {
- "val": "UMLS:C0158646"
- },
- {
- "val": "UMLS:C4021813"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000204",
- "lbl": "Cleft upper lip",
- "meta": {
- "definition": {
- "val": "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft upper lip"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft of upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Harelip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cheiloschisis of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4875"
- },
- {
- "val": "MSH:D002971"
- },
- {
- "val": "SNOMEDCT_US:80281008"
- },
- {
- "val": "UMLS:C0008924"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000205",
- "lbl": "Pursed lips",
- "meta": {
- "definition": {
- "val": "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pursed lips"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tightly closed lips",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1832130"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000206",
- "lbl": "Glossitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the tongue.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammation of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Smooth swollen tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual inflammation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005928"
- },
- {
- "val": "SNOMEDCT_US:45534005"
- },
- {
- "val": "UMLS:C0017675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000207",
- "lbl": "Triangular mouth",
- "meta": {
- "definition": {
- "val": "The presence of a triangular form of the mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular shaped mouth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Triangular shaped oral aperture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849341"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000211",
- "lbl": "Trismus",
- "meta": {
- "definition": {
- "val": "Limitation in the ability to open the mouth.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited mouth opening"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decrease in jaw mobility",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decrease in jaw movement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decrease in jaw opening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited jaw mobility",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited jaw movement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited jaw opening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lockjaw",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decrease in mandibular mobility",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decrease in mandibular movement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decrease in mandibular opening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Limited mandibular mobility",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Limited mandibular opening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pain of muscles of mastication",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014313"
- },
- {
- "val": "SNOMEDCT_US:87866006"
- },
- {
- "val": "UMLS:C0041105"
- },
- {
- "val": "UMLS:C1848474"
- },
- {
- "val": "UMLS:C4228933"
- },
- {
- "val": "UMLS:C4280672"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000212",
- "lbl": "Gingival overgrowth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000195"
- }
- ],
- "comments": [
- "This finding is to be distinguished from overgrowth of the alveolar ridge."
- ],
- "definition": {
- "val": "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gum enlargement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival hyperplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gum hypertrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypertrophic gingivitis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Oral soft tissue hyperplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival enlargement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005885"
- },
- {
- "val": "MSH:D005886"
- },
- {
- "val": "MSH:D019214"
- },
- {
- "val": "SNOMEDCT_US:441787004"
- },
- {
- "val": "SNOMEDCT_US:441798003"
- },
- {
- "val": "SNOMEDCT_US:54711002"
- },
- {
- "val": "UMLS:C0017566"
- },
- {
- "val": "UMLS:C0017567"
- },
- {
- "val": "UMLS:C0376480"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000214",
- "lbl": "Lip telangiectasia",
- "meta": {
- "definition": {
- "val": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of the lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lip telangiectases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Labial telangiectasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia of the lips",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Angioectasias of the lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Labial angioectasias",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857697"
- },
- {
- "val": "UMLS:C4280670"
- },
- {
- "val": "UMLS:C4280671"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000215",
- "lbl": "Thick upper lip vermilion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000231"
- }
- ],
- "comments": [
- "Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual."
- ],
- "definition": {
- "val": "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Full upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased volume of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Plump upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick upper lip",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick red part of the upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thick vermilion border of upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Full upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased height of upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased volume of upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Prominent upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846423"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000216",
- "lbl": "Broad secondary alveolar ridge",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Secondary alveolar ridges"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000217",
- "lbl": "Xerostomia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002709"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100756"
- }
- ],
- "definition": {
- "val": "Dryness of the mouth due to salivary gland dysfunction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dry mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dry mouth syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced salivation"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased salivary flow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014987"
- },
- {
- "val": "SNOMEDCT_US:300268000"
- },
- {
- "val": "SNOMEDCT_US:56893005"
- },
- {
- "val": "SNOMEDCT_US:87715008"
- },
- {
- "val": "UMLS:C0043352"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000218",
- "lbl": "High palate",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000156"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009080"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009082"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009097"
- }
- ],
- "comments": [
- "The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately."
- ],
- "definition": {
- "val": "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High palate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased palatal height",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "High arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High, arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High-arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palate high-arched"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palate, high-arched"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Ogival palate"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:27272007"
- },
- {
- "val": "UMLS:C0240635"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000219",
- "lbl": "Thin upper lip vermilion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200062"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200086"
- }
- ],
- "comments": [
- "Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately."
- ],
- "definition": {
- "val": "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin upper lip",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin red part of the upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin vermilion border of upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased height of upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of upper lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of upper lip vermilion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Thin upper lips",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865017"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000220",
- "lbl": "Velopharyngeal insufficiency",
- "meta": {
- "definition": {
- "val": "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.",
- "xrefs": [
- "DDD:jhurst"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Velopharyngeal incompetence"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Velopharyngeal dysfunction",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014681"
- },
- {
- "val": "SNOMEDCT_US:229727006"
- },
- {
- "val": "SNOMEDCT_US:232416001"
- },
- {
- "val": "SNOMEDCT_US:278714002"
- },
- {
- "val": "UMLS:C0042454"
- },
- {
- "val": "UMLS:C4280669"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000221",
- "lbl": "Furrowed tongue",
- "meta": {
- "comments": [
- "Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children."
- ],
- "definition": {
- "val": "Accentuation of the grooves on the dorsal surface of the tongue.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Grooved tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent tongue grooves"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scrotal tongue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fissured tongue",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingua plicata",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Plicated tongue",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014063"
- },
- {
- "val": "SNOMEDCT_US:52368004"
- },
- {
- "val": "UMLS:C0040412"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000222",
- "lbl": "Gingival hyperkeratosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007539"
- }
- ],
- "comments": [
- "The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems."
- ],
- "definition": {
- "val": "Hyperkeratosis of the gingiva.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis, gingival"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857013"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000223",
- "lbl": "Abnormality of taste sensation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of taste sensation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025879"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000224",
- "lbl": "Hypogeusia",
- "meta": {
- "definition": {
- "val": "A decreased ability to perceive flavor."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased taste"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased taste sensation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000370"
- },
- {
- "val": "SNOMEDCT_US:697990000"
- },
- {
- "val": "UMLS:C0151934"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000225",
- "lbl": "Gingival bleeding",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000167"
- }
- ],
- "definition": {
- "val": "Hemorrhage affecting the gingiva.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Gingival haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bleeding gums",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingivorrhagia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival hemorrhage",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005884"
- },
- {
- "val": "SNOMEDCT_US:86276007"
- },
- {
- "val": "UMLS:C0017565"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000227",
- "lbl": "Tongue telangiectasia",
- "meta": {
- "definition": {
- "val": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual telangiectasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Angioectasias of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Lingual angioectasias",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025878"
- },
- {
- "val": "UMLS:C4280668"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000228",
- "lbl": "Oral cavity telangiectasia",
- "meta": {
- "definition": {
- "val": "Presence of telangiectases in the oral cavity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of the mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral cavity teleangiectasia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Angioectasias of the mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Angioectasias of the oral cavity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Spider veins of the oral cavity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025877"
- },
- {
- "val": "UMLS:C4280667"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000230",
- "lbl": "Gingivitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the gingiva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflamed gums",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Red and swollen gums",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gingival inflammation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005891"
- },
- {
- "val": "SNOMEDCT_US:66383009"
- },
- {
- "val": "UMLS:C0017574"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000232",
- "lbl": "Everted lower lip vermilion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000184"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002264"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002712"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004665"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009086"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009093"
- }
- ],
- "comments": [
- "In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term."
- ],
- "definition": {
- "val": "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Drooping lower lip"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding lower lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outward turned lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Everted lower lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Everted prominent lower lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Eclabium of lower lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853246"
- },
- {
- "val": "UMLS:C1866234"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000233",
- "lbl": "Thin vermilion border",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000213"
- }
- ],
- "comments": [
- "The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face."
- ],
- "definition": {
- "val": "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125428"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin lips"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased volume of lip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin vermillion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of lip vermillion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Thin vermilion borders",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:301348000"
- },
- {
- "val": "UMLS:C0578038"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000234",
- "lbl": "Abnormality of the head",
- "meta": {
- "definition": {
- "val": "An abnormality of the head.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the head"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Head abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal head",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021812"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000235",
- "lbl": "Abnormality of the fontanelles or cranial sutures",
- "meta": {
- "comments": [
- "Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months."
- ],
- "definition": {
- "val": "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).",
- "xrefs": [
- "HPO:probinson",
- "PMID:12825844"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025876"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000236",
- "lbl": "Abnormality of the anterior fontanelle",
- "meta": {
- "definition": {
- "val": "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the forehead soft spot",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025875"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000237",
- "lbl": "Small anterior fontanelle",
- "meta": {
- "definition": {
- "val": "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Small anterior fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small forehead fontanel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859455"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000238",
- "lbl": "Hydrocephalus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007189"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008503"
- }
- ],
- "comments": [
- "Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord."
- ],
- "definition": {
- "val": "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.",
- "xrefs": [
- "HPO:probinson",
- "PMID:18211712",
- "PMID:19410151"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Too much cerebrospinal fluid in the brain",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hydrocephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nonsyndromal hydrocephalus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006849"
- },
- {
- "val": "SNOMEDCT_US:230745008"
- },
- {
- "val": "UMLS:C0020255"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000239",
- "lbl": "Large fontanelles",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004473"
- }
- ],
- "comments": [
- "There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel)."
- ],
- "definition": {
- "val": "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide fontanelles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged fontanelles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large fontanels"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent wide fontanel"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Large bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Large, late-closing fontanelle",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Wide bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:276709006"
- },
- {
- "val": "UMLS:C0456132"
- },
- {
- "val": "UMLS:C4072820"
- },
- {
- "val": "UMLS:C4072821"
- },
- {
- "val": "UMLS:C4072822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000240",
- "lbl": "Abnormality of skull size",
- "meta": {
- "definition": {
- "val": "Any abnormality of the size of the skull.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of skull size"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of head size",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cranium size",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025874"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000242",
- "lbl": "Parietal bossing",
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- "val": "HP:0004641"
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- ],
- "definition": {
- "val": "Parietal bossing is a marked prominence in the parietal region.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Biparietal bossing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bossing of parietal bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857126"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000243",
- "lbl": "Trigonocephaly",
- "meta": {
- "comments": [
- "This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture."
- ],
- "definition": {
- "val": "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
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- "val": "Triangular head shape",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wedge shaped head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular skull shape",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wedge shaped skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Triangular cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wedge shaped cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
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- {
- "val": "SNOMEDCT_US:28740008"
- },
- {
- "val": "UMLS:C0265535"
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- {
- "val": "UMLS:C4280665"
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- {
- "val": "UMLS:C4280666"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000244",
- "lbl": "Brachyturricephaly",
- "meta": {
- "definition": {
- "val": "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.",
- "xrefs": [
- "PMID:8460563"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High, prominent forehead",
- "xrefs": [
- "https://orcid.org/0000-0002-9353-5498"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Turribrachycephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachy-turricephaly",
- "xrefs": [
- "PMID:8460563"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857484"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000245",
- "lbl": "Abnormal paranasal sinus morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the sinuses"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the sinuses of the head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of the paranasal sinuses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000246",
- "lbl": "Sinusitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sinus infection"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sinus inflammation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sinus disease",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010254"
- },
- {
- "val": "MSH:D012852"
- },
- {
- "val": "SNOMEDCT_US:36971009"
- },
- {
- "val": "SNOMEDCT_US:7393007"
- },
- {
- "val": "UMLS:C0030469"
- },
- {
- "val": "UMLS:C0037199"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000248",
- "lbl": "Brachycephaly",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008512"
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- ],
- "comments": [
- "Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately."
- ],
- "definition": {
- "val": "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.",
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- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad head shape",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad skull shape",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide head shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide skull shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short and broad skull",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Broad cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Wide cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
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- {
- "val": "SNOMEDCT_US:13649004"
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- {
- "val": "UMLS:C0221356"
- },
- {
- "val": "UMLS:C4072823"
- },
- {
- "val": "UMLS:C4072824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000250",
- "lbl": "Dense calvaria",
- "meta": {
- "definition": {
- "val": "An abnormal increase of density of the bones making up the calvaria.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dense skull cap",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000252",
- "lbl": "Microcephaly",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001366"
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- "val": "HP:0005485"
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- "val": "HP:0005489"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005497"
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- ],
- "comments": [
- "Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition"
- ],
- "definition": {
- "val": "Head circumference below 2 standard deviations below the mean for age and gender.",
- "xrefs": [
- "PMID:15806441",
- "PMID:19125436",
- "PMID:25465325",
- "PMID:9683597"
- ]
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- "subsets": [
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced head circumference"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small head circumference"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally small head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of head",
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- "ORCID:0000-0001-5889-4463"
- ]
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- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small head",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasBroadSynonym",
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- "val": "Small skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally small skull",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased circumference of cranium",
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- "ORCID:0000-0001-5889-4463"
- ]
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of skull",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormally small cranium",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "small calvarium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "small cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4310"
- },
- {
- "val": "SNOMEDCT_US:271611007"
- },
- {
- "val": "UMLS:C4551563"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000253",
- "lbl": "Progressive microcephaly",
- "meta": {
- "definition": {
- "val": "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressively abnormally small cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressively abnormally small skull",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Microcephaly, postnatal, progressive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microcephaly, progressive",
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- "HPO:skoehler"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1850456"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000255",
- "lbl": "Acute sinusitis",
- "meta": {
- "definition": {
- "val": "An acute form of sinusitis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:15805002"
- },
- {
- "val": "UMLS:C0149512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000256",
- "lbl": "Macrocephaly",
- "meta": {
- "basicPropertyValues": [
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- ],
- "comments": [
- "Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex."
- ],
- "definition": {
- "val": "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Large head"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large head circumference"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big calvaria",
- "xrefs": [
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- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big head",
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrocephalus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrocrania"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Large calvaria",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Large cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased size of cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megacephaly",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4335"
- },
- {
- "val": "UMLS:C4083076"
- },
- {
- "val": "UMLS:C4255213"
- },
- {
- "val": "UMLS:C4280663"
- },
- {
- "val": "UMLS:C4280664"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000260",
- "lbl": "Wide anterior fontanel",
- "meta": {
- "definition": {
- "val": "Enlargement of the anterior fontanelle with respect to age-dependent norms.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wider-than-typical soft spot of skull",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large anterior fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large anterior fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large open anterior fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large open anterior fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide anterior fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide open anterior fontanelle"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Large anterior fontanels",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866134"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000262",
- "lbl": "Turricephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001356"
- }
- ],
- "comments": [
- "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape."
- ],
- "definition": {
- "val": "Tall head relative to width and length.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tall shaped head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tall shaped skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tower skull shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Turricephalus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tall shaped cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tower cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
- },
- {
- "val": "SNOMEDCT_US:48069004"
- },
- {
- "val": "UMLS:C0030044"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000263",
- "lbl": "Oxycephaly",
- "meta": {
- "definition": {
- "val": "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Acrocephaly"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000264",
- "lbl": "Abnormal mastoid morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.",
- "xrefs": [
- "HPO:pnrobinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of mastoid process of temporal bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the mastoid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025872"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000265",
- "lbl": "Mastoiditis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D008417"
- },
- {
- "val": "SNOMEDCT_US:52404001"
- },
- {
- "val": "UMLS:C0024904"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000267",
- "lbl": "Cranial asymmetry",
- "meta": {
- "definition": {
- "val": "Asymmetry of the bones of the skull.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Asymmetry of head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uneven head shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of head shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of head shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Asymmetry of cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranial vault asymmetry",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of cranial vault shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Malformation of cranial vault shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Malformation of cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860245"
- },
- {
- "val": "UMLS:C4280258"
- },
- {
- "val": "UMLS:C4280657"
- },
- {
- "val": "UMLS:C4280658"
- },
- {
- "val": "UMLS:C4280659"
- },
- {
- "val": "UMLS:C4280660"
- },
- {
- "val": "UMLS:C4280661"
- },
- {
- "val": "UMLS:C4280662"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000268",
- "lbl": "Dolichocephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000258"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005440"
- }
- ],
- "comments": [
- "Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped)."
- ],
- "definition": {
- "val": "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow head shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow skull shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long, narrow head",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tall and narrow skull",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Turridolichocephaly"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Large dolichocephalic skull"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Narrow cranium shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:72239002"
- },
- {
- "val": "UMLS:C0221358"
- },
- {
- "val": "UMLS:C4280653"
- },
- {
- "val": "UMLS:C4280654"
- },
- {
- "val": "UMLS:C4280655"
- },
- {
- "val": "UMLS:C4280656"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000269",
- "lbl": "Prominent occiput",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004489"
- }
- ],
- "comments": [
- "Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately."
- ],
- "definition": {
- "val": "Increased convexity of the occiput (posterior part of the skull).",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent back of the head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent posterior head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding back of the head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent back of the skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent posterior skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent posterior cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Protruding occiput",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853737"
- },
- {
- "val": "UMLS:C4280652"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000270",
- "lbl": "Delayed cranial suture closure",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002704"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003794"
- }
- ],
- "definition": {
- "val": "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed cranial suture closure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad late closing cranial sutures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of fontanelles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of the fontanelles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed fontanel closure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed fontanelle closure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late closing fontanelles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late closure of fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late-closing fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Open sutures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of fontanels",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:82779003"
- },
- {
- "val": "UMLS:C0277828"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000271",
- "lbl": "Abnormality of the face",
- "meta": {
- "definition": {
- "val": "An abnormality of the face.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the face"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disorder of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal face",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial abnormality",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disorder of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Abnormality of the countenance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Abnormality of the physiognomy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Abnormality of the visage",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Anomaly of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Anomaly of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Facial anomaly",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:118930001"
- },
- {
- "val": "SNOMEDCT_US:32003007"
- },
- {
- "val": "SNOMEDCT_US:398206004"
- },
- {
- "val": "SNOMEDCT_US:398302004"
- },
- {
- "val": "UMLS:C0266617"
- },
- {
- "val": "UMLS:C1290857"
- },
- {
- "val": "UMLS:C4025871"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000272",
- "lbl": "Malar flattening",
- "meta": {
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- "val": "HP:0000312"
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- "val": "HP:0000332"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004642"
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- "val": "HP:0004658"
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- "val": "HP:0004671"
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- "val": "HP:0005319"
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- "val": "HP:0005443"
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- "val": "HP:0005455"
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- "val": "HP:0100846"
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- "comments": [
- "The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy."
- ],
- "definition": {
- "val": "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.",
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- "HPO:probinson",
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "val": "Zygomatic flattening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Depressed malar region"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malar hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of malar bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat cheekbone",
- "xrefs": [
- "ORCID:0000-0002-9353-5498"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of malar bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic malar bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858085"
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- {
- "val": "UMLS:C4280651"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000273",
- "lbl": "Facial grimacing",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial grimacing"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:37126005"
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- {
- "val": "UMLS:C0234853"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000274",
- "lbl": "Small face",
- "meta": {
- "comments": [
- "This term represents a combination of two terms, short face and narrow face."
- ],
- "definition": {
- "val": "A face that is short and narrow.",
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- "HP:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short and narrow face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Facial hypoplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microface",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microfacies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000275",
- "lbl": "Narrow face",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000318"
- }
- ],
- "comments": [
- "Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible."
- ],
- "definition": {
- "val": "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow face"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased breadth of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow facies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased horizontal dimension of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased transverse dimension of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal deficiency of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal hypoplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal insufficiency of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse deficiency of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse hypoplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse insufficiency of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837463"
- },
- {
- "val": "UMLS:C1849121"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000276",
- "lbl": "Long face",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000334"
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- ],
- "comments": [
- "Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face."
- ],
- "definition": {
- "val": "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elongation of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased height of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased length of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Vertical elongation of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Vertical enlargement of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Vertical overgrowth of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased vertical dimension of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Long facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical Facial Excess",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical excess of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical hyperplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836047"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000277",
- "lbl": "Abnormal mandible morphology",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000209"
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- ],
- "definition": {
- "val": "Any abnormality of the mandible, the bone of the lower jaw.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the mandible"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lower jaw bone",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the lower jaw bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the lower jaw bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025870"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000278",
- "lbl": "Retrognathia",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0002053"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002954"
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- ],
- "definition": {
- "val": "An abnormality in which the mandible is mislocalised posteriorly.",
- "xrefs": [
- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Receding chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Receding lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weak chin",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weak jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw retrognathia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Receding mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retrognathia of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Retrogenia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D063173"
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- {
- "val": "UMLS:C3494422"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000280",
- "lbl": "Coarse facial features",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004640"
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- ],
- "definition": {
- "val": "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.",
- "xrefs": [
- "PMID:19125436"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coarse facial features"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coarse facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rounded and heavy facial features",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickened facial skin with coarse facial features",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coarse face"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coarse facies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845847"
- },
- {
- "val": "UMLS:C4072825"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000282",
- "lbl": "Facial edema",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Facial oedema"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial puffiness",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial swelling",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:445088006"
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- {
- "val": "UMLS:C0542571"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000283",
- "lbl": "Broad face",
- "meta": {
- "comments": [
- "Note that broad face is distinct from round face."
- ],
- "definition": {
- "val": "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).",
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- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of face",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal excess of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal hyperplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased horizontal dimension of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased transverse dimension of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse excess of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse hyperplasia of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859680"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000284",
- "lbl": "obsolete Abnormality of the ocular region",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000315"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000286",
- "lbl": "Epicanthus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000624"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007930"
- }
- ],
- "comments": [
- "In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris."
- ],
- "definition": {
- "val": "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eye folds",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent eye folds",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epicanthal fold"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epicanthal folds"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epicanthic folds"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palpebronasal fold",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Plica palpebronasalis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0678230"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000287",
- "lbl": "Increased facial adipose tissue",
- "meta": {
- "definition": {
- "val": "An increased amount of subcutaneous fat tissue in the face.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased amount of facial fat",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased amount of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased volume of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Facial fat hyperplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Facial fat hypertrophy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hyperplasia of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypertrophy of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025868"
- },
- {
- "val": "UMLS:C4280649"
- },
- {
- "val": "UMLS:C4280650"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000288",
- "lbl": "Abnormality of the philtrum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0011216"
- }
- ],
- "comments": [
- "The paralabial region is the region surrounding the lips and includes the philtrum."
- ],
- "definition": {
- "val": "An abnormality of the philtrum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the paralabial region"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the infranasal depression",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857045"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000289",
- "lbl": "Broad philtrum",
- "meta": {
- "comments": [
- "The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum."
- ],
- "definition": {
- "val": "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Wide philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased breadth of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased horizontal dimension of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased transverse dimension of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased width of philtrum",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854111"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000290",
- "lbl": "Abnormality of the forehead",
- "meta": {
- "definition": {
- "val": "An anomaly of the forehead.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the forehead"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the frontal region of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025867"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000291",
- "lbl": "Abnormality of facial adipose tissue",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of facial fat"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025866"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000292",
- "lbl": "Loss of facial adipose tissue",
- "meta": {
- "definition": {
- "val": "Loss of normal subcutaneous fat tissue in the face.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased amount of facial fat",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of facial fat",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of facial subcutaneous adipose tissue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of subcutaneous adipose tissue from face"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased amount of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of facial adipose tissue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000293",
- "lbl": "Full cheeks",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004427"
- }
- ],
- "definition": {
- "val": "Increased prominence or roundness of soft tissues between zygomata and mandible.",
- "xrefs": [
- "DDD:awilkie"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Apple cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Full cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Chubby cheeks",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Puffy cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hyperplasia of cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypertrophy of cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866231"
- },
- {
- "val": "UMLS:C2748653"
- },
- {
- "val": "UMLS:C3806443"
- },
- {
- "val": "UMLS:C4280647"
- },
- {
- "val": "UMLS:C4280648"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000294",
- "lbl": "Low anterior hairline",
- "meta": {
- "comments": [
- "This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair."
- ],
- "definition": {
- "val": "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low frontal hairline"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low-set frontal hairline"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842366"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000295",
- "lbl": "Doll-like facies",
- "meta": {
- "comments": [
- "This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely."
- ],
- "definition": {
- "val": "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Doll-like facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856361"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000297",
- "lbl": "Facial hypotonia",
- "meta": {
- "definition": {
- "val": "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased facial muscle tone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low facial muscle tone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced facial muscle tone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotonic facies"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Atony of facial musculature",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845251"
- },
- {
- "val": "UMLS:C4280646"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000298",
- "lbl": "Mask-like facies",
- "meta": {
- "comments": [
- "Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy."
- ],
- "definition": {
- "val": "A lack of facial expression often with staring eyes and a slightly open mouth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Expressionless face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of facial expression",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mask-like facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Amimia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Masklike facies"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:103606006"
- },
- {
- "val": "UMLS:C0424448"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000300",
- "lbl": "Oval face",
- "meta": {
- "definition": {
- "val": "A face with a rounded and slightly elongated outline.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Oval face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Oval facial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oval facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849025"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000301",
- "lbl": "Abnormality of facial musculature",
- "meta": {
- "comments": [
- "Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure."
- ],
- "definition": {
- "val": "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial muscle issue"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of facial muscles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025865"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000303",
- "lbl": "Mandibular prognathia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000251"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000279"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000328"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002051"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004648"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004656"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008514"
- }
- ],
- "definition": {
- "val": "Abnormal prominence of the chin related to increased length of the mandible.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased projection of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Big mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlargement of mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplasia of lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw excess"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw hyperplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macromandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandible prognathism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular excess"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular hyperplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular macrognathia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular prognathism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prognathia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prognathism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Relative mandibular prognathism"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased projection of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008313"
- },
- {
- "val": "SNOMEDCT_US:109504005"
- },
- {
- "val": "SNOMEDCT_US:22810007"
- },
- {
- "val": "UMLS:C0302501"
- },
- {
- "val": "UMLS:C0399526"
- },
- {
- "val": "UMLS:C2227134"
- },
- {
- "val": "UMLS:C4280644"
- },
- {
- "val": "UMLS:C4280645"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000306",
- "lbl": "Abnormality of the chin",
- "meta": {
- "definition": {
- "val": "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the chin"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the chin"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the chin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the chin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Abnormality of the menton",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025864"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000307",
- "lbl": "Pointed chin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005330"
- }
- ],
- "comments": [
- "The two rami of the mandible meet at an acute angle."
- ],
- "definition": {
- "val": "A marked tapering of the lower face to the chin.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointy chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small pointed chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Witch's chin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pointed mention region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844505"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000308",
- "lbl": "Microretrognathia",
- "meta": {
- "definition": {
- "val": "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small retruded chin",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retromicrognathia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839546"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000309",
- "lbl": "Abnormal midface morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0430026"
- }
- ],
- "definition": {
- "val": "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the midface"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the midface",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the midface",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal morphology of the midface"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the midface"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021811"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000311",
- "lbl": "Round face",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000304"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004653"
- }
- ],
- "definition": {
- "val": "The facial appearance is more circular than usual as viewed from the front.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round facial appearance"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Circular face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round facial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Round, full face"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Round facies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239479"
- },
- {
- "val": "UMLS:C1856468"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000315",
- "lbl": "Abnormality of the orbital region",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000284"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the eye region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the region around the eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the orbital region of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the orbital region of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the orbital region of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025863"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000316",
- "lbl": "Hypertelorism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000578"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002001"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004657"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007871"
- }
- ],
- "definition": {
- "val": "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide-set eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced eyes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased interpupillary distance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular hypertelorism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened interpupillary distance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Excessive orbital separation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased distance between eye sockets",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased distance between eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006972"
- },
- {
- "val": "SNOMEDCT_US:194021007"
- },
- {
- "val": "SNOMEDCT_US:22006008"
- },
- {
- "val": "UMLS:C0020534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000317",
- "lbl": "Facial myokymia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004651"
- }
- ],
- "comments": [
- "Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes."
- ],
- "definition": {
- "val": "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary facial quivering"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Involuntary facial contraction"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005155"
- },
- {
- "val": "SNOMEDCT_US:1070000"
- },
- {
- "val": "UMLS:C0270871"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000319",
- "lbl": "Smooth philtrum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000299"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000323"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004663"
- }
- ],
- "comments": [
- "There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately."
- ],
- "definition": {
- "val": "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Flat philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Indistinct philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Philtrum, smooth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Simple philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased depth of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shallow philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1142533"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000320",
- "lbl": "Bird-like facies",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bird-like facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837758"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000321",
- "lbl": "Square face",
- "meta": {
- "definition": {
- "val": "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Square face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Square facial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Square facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1832127"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000322",
- "lbl": "Short philtrum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200090"
- }
- ],
- "definition": {
- "val": "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased height of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased length of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased vertical dimension of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical hypoplasia of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861324"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000324",
- "lbl": "Facial asymmetry",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003775"
- }
- ],
- "definition": {
- "val": "An abnormal difference between the left and right sides of the face.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial asymmetry"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Asymmetry of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crooked face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unsymmetrical face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unbalanced face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unequal sides of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uneven face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uneven sides of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Asymmetric facies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Asymmetry of right and left side of face"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005146"
- },
- {
- "val": "SNOMEDCT_US:15253005"
- },
- {
- "val": "UMLS:C1306710"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000325",
- "lbl": "Triangular face",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004645"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004662"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004668"
- }
- ],
- "definition": {
- "val": "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.",
- "xrefs": [
- "DDD:jclayton-smith",
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Face with broad temples and narrow chin",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular facial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Triangular facies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000326",
- "lbl": "Abnormality of the maxilla",
- "meta": {
- "definition": {
- "val": "An abnormality of the Maxilla (upper jaw bone).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the upper jaw bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the upper jaw bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the upper jaw bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the upper jaw bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the maxilla",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- {
- "val": "UMLS:C4025862"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000327",
- "lbl": "Hypoplasia of the maxilla",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004644"
- }
- ],
- "definition": {
- "val": "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deficiency of upper jaw bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of upper jaw",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Maxillary deficiency",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Maxillary retrusion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small upper jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small upper jaw bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upper jaw deficiency",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upper jaw retrusion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic maxillary bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of upper jaw bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Maxillary hypoplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Maxillary micrognathia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Maxillary retrognathia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Micromaxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Decreased projection of maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Decreased projection of upper jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic maxilla",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic upper jaw bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Retrognathia of upper jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Retrusion of upper jaw bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240310"
- },
- {
- "val": "UMLS:C4082243"
- },
- {
- "val": "UMLS:C4280640"
- },
- {
- "val": "UMLS:C4280641"
- },
- {
- "val": "UMLS:C4280642"
- },
- {
- "val": "UMLS:C4280643"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000329",
- "lbl": "Facial hemangioma",
- "meta": {
- "definition": {
- "val": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Facial hemangiomata"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861443"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000331",
- "lbl": "Short chin",
- "meta": {
- "comments": [
- "The term \"micrognathia\" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension)."
- ],
- "definition": {
- "val": "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short lower third of face"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small chin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased height of chin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical hypoplasia of chin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical deficiency of chin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:699439001"
- },
- {
- "val": "UMLS:C1839323"
- },
- {
- "val": "UMLS:C3697248"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000336",
- "lbl": "Prominent supraorbital ridges",
- "meta": {
- "definition": {
- "val": "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent brow"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent supraorbital ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Protruding supraorbital ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supraorbital hyperostosis"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hyperplasia of supraorbital ridge"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypertrophy of supraorbital ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent supraorbital margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hyperplasia of supraorbital margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypertrophy of supraorbital margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842060"
- },
- {
- "val": "UMLS:C4280636"
- },
- {
- "val": "UMLS:C4280637"
- },
- {
- "val": "UMLS:C4280638"
- },
- {
- "val": "UMLS:C4280639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000337",
- "lbl": "Broad forehead",
- "meta": {
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000354"
- }
- ],
- "comments": [
- "Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead."
- ],
- "definition": {
- "val": "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of the forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased bitemporal dimension"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased bitemporal width"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bitemporal widening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intertemporal widening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849089"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000338",
- "lbl": "Hypomimic face",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- }
- ],
- "comments": [
- "The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal."
- ],
- "definition": {
- "val": "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dull facial expression"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased facial expressions",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased facial muscle movement",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypomimia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248149005"
- },
- {
- "val": "UMLS:C0813217"
- },
- {
- "val": "UMLS:C1862474"
- },
- {
- "val": "UMLS:C4280635"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000339",
- "lbl": "Pugilistic facies",
- "meta": {
- "definition": {
- "val": "Coarse facial features reminiscent of those of a boxer.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Boxer-like facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pugilistic facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846011"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000340",
- "lbl": "Sloping forehead",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000351"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004480"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008493"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008500"
- }
- ],
- "comments": [
- "Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical."
- ],
- "definition": {
- "val": "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inclined forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Receding forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sloping forehead"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly sloping forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857679"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000341",
- "lbl": "Narrow forehead",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000314"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004674"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004677"
- }
- ],
- "comments": [
- "A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow."
- ],
- "definition": {
- "val": "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of the forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bitemporal narrowing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bitemporal narrowness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bitemporal skull narrowing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intertemporal narrowing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow bitemporal diameter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow bitemporal width"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Temporal narrowness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839758"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000343",
- "lbl": "Long philtrum",
- "meta": {
- "definition": {
- "val": "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elongated philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased height of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased length of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased vertical dimension of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertical hyperplasia of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865014"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000346",
- "lbl": "Whistling appearance",
- "meta": {
- "definition": {
- "val": "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.",
- "xrefs": [
- "HPO:probinson",
- "PMID:856233"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Whistling appearance"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Whistling facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848473"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000347",
- "lbl": "Micrognathia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000210"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000330"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000345"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002005"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002674"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004669"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005460"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005470"
- }
- ],
- "comments": [
- "Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw."
- ],
- "definition": {
- "val": "Developmental hypoplasia of the mandible.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Little lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small jaw"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic mandible condyle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Little mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw retrusion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular micrognathia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular retrognathia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mandibular retrusion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Micrognathia of lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Micromandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Robin mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Severe hypoplasia of mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of lower jaw"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of mandible"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Deficiency of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrophic lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrophic mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower jaw hypoplasia",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Decreased projection of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Decreased projection of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Retrusion of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4163"
- },
- {
- "val": "MSH:D008844"
- },
- {
- "val": "SNOMEDCT_US:32958008"
- },
- {
- "val": "UMLS:C0025990"
- },
- {
- "val": "UMLS:C0240295"
- },
- {
- "val": "UMLS:C1857130"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000348",
- "lbl": "High forehead",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000342"
- }
- ],
- "definition": {
- "val": "An abnormally increased height of the forehead.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High forehead"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tall forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239676"
- },
- {
- "val": "UMLS:C2677762"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000349",
- "lbl": "Widow's peak",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004544"
- }
- ],
- "comments": [
- "The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline."
- ],
- "definition": {
- "val": "Frontal hairline with bilateral arcs to a low point in the midline of the forehead.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widow's peak"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hairline peak",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hairline point",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed hairline at front of head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "V-shaped frontal hairline",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pointed frontal hairline"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853486"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000350",
- "lbl": "Small forehead",
- "meta": {
- "definition": {
- "val": "The presence of a forehead that is abnormally small.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of frontal region of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypoplasia of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypotrophic forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845250"
- },
- {
- "val": "UMLS:C4280633"
- },
- {
- "val": "UMLS:C4280634"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000356",
- "lbl": "Abnormality of the outer ear",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001752"
- }
- ],
- "definition": {
- "val": "An abnormality of the external ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the external ear"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the outer ear"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ear anomalies"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "External ear malformations"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outer ear abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal pinnae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the auricle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformed pinnae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:275259005"
- },
- {
- "val": "UMLS:C0266589"
- },
- {
- "val": "UMLS:C1846460"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000357",
- "lbl": "Abnormal location of ears",
- "meta": {
- "definition": {
- "val": "Abnormal location of the ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal location of ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "External ear position defect"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021810"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000358",
- "lbl": "Posteriorly rotated ears",
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- "Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age."
- ],
- "definition": {
- "val": "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).",
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- "HPO:probinson",
- "PMID:19152421"
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- },
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- "val": "Ears rotated toward back of head",
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- "orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Ear, posterior angulation, increased"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly angulated ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly rotated"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly rotated auricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly-angulated ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posteriorly-rotated ears"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253251006"
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- {
- "val": "UMLS:C0431478"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000359",
- "lbl": "Abnormality of the inner ear",
- "meta": {
- "definition": {
- "val": "An abnormality of the inner ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the inner ear"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inner ear abnormality"
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- ],
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- {
- "val": "UMLS:C4021809"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000360",
- "lbl": "Tinnitus",
- "meta": {
- "definition": {
- "val": "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.",
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- "Cochrane:ab005233"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ringing in ears"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ringing in the ears",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014012"
- },
- {
- "val": "SNOMEDCT_US:162349004"
- },
- {
- "val": "SNOMEDCT_US:162352007"
- },
- {
- "val": "SNOMEDCT_US:60862001"
- },
- {
- "val": "UMLS:C0040264"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000361",
- "lbl": "obsolete Pulsatile tinnitus (tympanic paraganglioma)",
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- "basicPropertyValues": [
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- "val": "HP:0008629"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000362",
- "lbl": "Otosclerosis",
- "meta": {
- "comments": [
- "Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing."
- ],
- "definition": {
- "val": "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.",
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- "HPO:probinson",
- "PMID:15931303"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "xrefs": [
- {
- "val": "MSH:D010040"
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- {
- "val": "SNOMEDCT_US:11543004"
- },
- {
- "val": "UMLS:C0029899"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000363",
- "lbl": "Abnormal earlobe morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the lobule of pinna.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal earlobe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of ear lobe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of earlobe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal lobe of ear"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of auricular lobule"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of lobulus auriculae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021808"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000364",
- "lbl": "Hearing abnormality",
- "meta": {
- "comments": [
- "According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear."
- ],
- "definition": {
- "val": "An abnormality of the sensory perception of sound.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hearing abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal hearing",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025860"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000365",
- "lbl": "Hearing impairment",
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- "val": "HP:0001728"
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- "val": "HP:0001729"
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- "val": "HP:0001754"
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- "val": "HP:0008560"
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- "val": "HP:0008563"
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- ],
- "comments": [
- "Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing."
- ],
- "definition": {
- "val": "A decreased magnitude of the sensory perception of sound.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Hearing defect"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hearing impairment"
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypacusis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypoacusis"
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- ],
- "xrefs": [
- {
- "val": "Fyler:4868"
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- {
- "val": "MSH:D003638"
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- {
- "val": "MSH:D034381"
- },
- {
- "val": "SNOMEDCT_US:103276001"
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- {
- "val": "SNOMEDCT_US:15188001"
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- "val": "SNOMEDCT_US:343087000"
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- {
- "val": "SNOMEDCT_US:95828007"
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- {
- "val": "UMLS:C0011053"
- },
- {
- "val": "UMLS:C0018772"
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- {
- "val": "UMLS:C0339789"
- },
- {
- "val": "UMLS:C1384666"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000366",
- "lbl": "Abnormality of the nose",
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- "definition": {
- "val": "An abnormality of the nose.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Abnormality of the nose"
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- {
- "pred": "hasExactSynonym",
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- "val": "Nasal abnormality",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the nose",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
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- "val": "Malformation of the nose",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal deformity",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal malformation",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the nose",
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- "pred": "hasExactSynonym",
- "val": "Nasal anomaly",
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- "xrefs": [
- {
- "val": "SNOMEDCT_US:128274005"
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- {
- "val": "SNOMEDCT_US:72089000"
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- {
- "val": "UMLS:C0240547"
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- {
- "val": "UMLS:C0265736"
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- {
- "val": "UMLS:C2235909"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000368",
- "lbl": "Low-set, posteriorly rotated ears",
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- "comments": [
- "This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately."
- ],
- "definition": {
- "val": "Ears that are low-set and posteriorly rotated.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Low-set posteriorly rotated ears"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857486"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000369",
- "lbl": "Low-set ears",
- "meta": {
- "definition": {
- "val": "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.",
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- "HPO:probinson",
- "PMID:19152421"
- ]
- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Low set ears"
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- {
- "pred": "hasExactSynonym",
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- "val": "Low-set ears"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lowset ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low-set pinnae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Melotia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95515009"
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- {
- "val": "UMLS:C0239234"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000370",
- "lbl": "Abnormality of the middle ear",
- "meta": {
- "definition": {
- "val": "An abnormality of the middle ear.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Middle ear abnormalities"
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- {
- "pred": "hasExactSynonym",
- "val": "Middle ear abnormality"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1861141"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000371",
- "lbl": "Acute otitis media",
- "meta": {
- "definition": {
- "val": "Acute otitis media is a short and generally painful infection of the middle ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acute middle ear infection",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:3110003"
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- {
- "val": "UMLS:C0271429"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000372",
- "lbl": "Abnormality of the auditory canal",
- "meta": {
- "definition": {
- "val": "An abnormality of the External acoustic tube (also known as the auditory canal).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Auditory canal abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000375",
- "lbl": "Abnormal cochlea morphology",
- "meta": {
- "comments": [
- "The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain."
- ],
- "definition": {
- "val": "An abnormality of the cochlea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cochlea"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025858"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000376",
- "lbl": "Incomplete partition of the cochlea type II",
- "meta": {
- "comments": [
- "The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution."
- ],
- "definition": {
- "val": "With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21849370",
- "PMID:34698066"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Cochlear malformation defect (Mondini dysplasia)"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Mondini defect"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Mondini dysplasia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Mondini malformation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857078"
- },
- {
- "val": "UMLS:C4025857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000377",
- "lbl": "Abnormal pinna morphology",
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- ],
- "comments": [
- "The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance."
- ],
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformed ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal form of ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deformed auricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysplastic ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformation of auricle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformed auricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformed external ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Minor malformation of the auricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poorly defined conchae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253255002"
- },
- {
- "val": "UMLS:C0431483"
- },
- {
- "val": "UMLS:C0857379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000378",
- "lbl": "Cupped ear",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008531"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008600"
- }
- ],
- "definition": {
- "val": "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19162421",
- "PMID:22073081"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cup-shaped ears"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupped ear"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Simple, cup-shaped ears"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Capuchin ears"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cupped ears",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845447"
- },
- {
- "val": "UMLS:C4020892"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000381",
- "lbl": "Stapes ankylosis",
- "meta": {
- "comments": [
- "Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed."
- ],
- "definition": {
- "val": "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).",
- "xrefs": [
- "HPO:probinson",
- "PMID:12089654"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Stapes fixation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861326"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000383",
- "lbl": "Abnormal periauricular region morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the region around the ear",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of periauricular region"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the periauricular region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the periauricular region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the periauricular region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025856"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000384",
- "lbl": "Preauricular skin tag",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008575"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100278"
- }
- ],
- "definition": {
- "val": "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin tag in front of the ear",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin tag on the posterior cheek",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periauricular skin tag"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular skin tags"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular tag"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular tags"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ear tag",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular acrochordon",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular fibroepithelial polyp",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860816"
- },
- {
- "val": "UMLS:C4072826"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000385",
- "lbl": "Small earlobe",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008616"
- }
- ],
- "comments": [
- "All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable."
- ],
- "definition": {
- "val": "Reduced volume of the earlobe.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152421"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small earlobe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small earlobes",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic earlobes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic lobules"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842680"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000387",
- "lbl": "Absent earlobe",
- "meta": {
- "definition": {
- "val": "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152421"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent earlobe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Earlobe, absent"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lobeless ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent ear lobes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lobule aplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849364"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000388",
- "lbl": "Otitis media",
- "meta": {
- "definition": {
- "val": "Inflammation or infection of the middle ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Middle ear infection",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010033"
- },
- {
- "val": "SNOMEDCT_US:65363002"
- },
- {
- "val": "UMLS:C0029882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000389",
- "lbl": "Chronic otitis media",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008524"
- }
- ],
- "definition": {
- "val": "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Chronic middle ear infection"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Chronic infections of the middle ear",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Chronic ear infection"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Otitis media, chronic",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:21186006"
- },
- {
- "val": "UMLS:C0271441"
- },
- {
- "val": "UMLS:C0743359"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000391",
- "lbl": "Thickened helices",
- "meta": {
- "definition": {
- "val": "Increased thickness of the helix of the ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thick helix"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837732"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000394",
- "lbl": "Lop ear",
- "meta": {
- "comments": [
- "The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal."
- ],
- "definition": {
- "val": "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152421"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:76223006"
- },
- {
- "val": "UMLS:C0266614"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000395",
- "lbl": "Prominent antihelix",
- "meta": {
- "definition": {
- "val": "The presence of an abnormally prominent antihelix.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845272"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000396",
- "lbl": "Overfolded helix",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001758"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008570"
- }
- ],
- "comments": [
- "This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable."
- ],
- "definition": {
- "val": "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152421"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overfolded ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Over-folded helices"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Overfolded helices"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837731"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000399",
- "lbl": "Prelingual sensorineural hearing impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001731"
- }
- ],
- "definition": {
- "val": "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Deafness, sensorineural, prelingual"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prelingual sensorineural deafness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021806"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000400",
- "lbl": "Macrotia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000382"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000386"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000401"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001755"
- }
- ],
- "comments": [
- "This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used."
- ],
- "definition": {
- "val": "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).",
- "xrefs": [
- "PMID:19152421"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large ears"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large pinnae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:275480001"
- },
- {
- "val": "SNOMEDCT_US:69056000"
- },
- {
- "val": "UMLS:C0152421"
- },
- {
- "val": "UMLS:C0554972"
- },
- {
- "val": "UMLS:C1835581"
- },
- {
- "val": "UMLS:C1848570"
- },
- {
- "val": "UMLS:C1850189"
- },
- {
- "val": "UMLS:C1855062"
- },
- {
- "val": "UMLS:C1860838"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000402",
- "lbl": "Stenosis of the external auditory canal",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000373"
- }
- ],
- "definition": {
- "val": "An abnormal narrowing of the external auditory canal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow ear canal",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of passageway from outer ear to middle ear",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "External auditory canal stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow external auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow external auditory meatus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Stenotic external auditory canal"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:300127002"
- },
- {
- "val": "SNOMEDCT_US:301061006"
- },
- {
- "val": "UMLS:C0395837"
- },
- {
- "val": "UMLS:C0576860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000403",
- "lbl": "Recurrent otitis media",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008622"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008623"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008624"
- }
- ],
- "definition": {
- "val": "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent middle ear infection",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Frequent otitis media"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple episodes of otitis media"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent episodes of otitis media"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Susceptibility to otitis media"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Otitis media, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0747085"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000405",
- "lbl": "Conductive hearing impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000367"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008581"
- }
- ],
- "comments": [
- "A conductive hearing impariment with greater than 90 dB loss."
- ],
- "definition": {
- "val": "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Conductive deafness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Conductive hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Conduction deafness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hearing loss, conductive"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006314"
- },
- {
- "val": "SNOMEDCT_US:44057004"
- },
- {
- "val": "UMLS:C0018777"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000407",
- "lbl": "Sensorineural hearing impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000374"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001753"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001916"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008538"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008553"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008565"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008576"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008611"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008613"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008614"
- }
- ],
- "comments": [
- "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve)."
- ],
- "definition": {
- "val": "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Sensorineural deafness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sensorineural hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hearing loss, sensorineural",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006319"
- },
- {
- "val": "SNOMEDCT_US:60700002"
- },
- {
- "val": "UMLS:C0018784"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000408",
- "lbl": "Progressive sensorineural hearing impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000397"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000406"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008592"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008601"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008617"
- }
- ],
- "definition": {
- "val": "A progressive form of sensorineural hearing impairment.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral progressive sensorineural hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hearing loss, progressive sensorineural"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hearing loss, sensorineural, bilateral, progressive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hearing loss, sensorineural, progressive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Progressive bilateral sensorineural hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sensorineural hearing loss, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843156"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000410",
- "lbl": "Mixed hearing impairment",
- "meta": {
- "definition": {
- "val": "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mixed hearing impairment"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mixed hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hearing loss, mixed",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D046089"
- },
- {
- "val": "SNOMEDCT_US:77507001"
- },
- {
- "val": "UMLS:C0155552"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000411",
- "lbl": "Protruding ear",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000412"
- }
- ],
- "definition": {
- "val": "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).",
- "xrefs": [
- "PMID:19152421"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent ear"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent ears"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding ears",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:275478007"
- },
- {
- "val": "UMLS:C1305420"
- },
- {
- "val": "UMLS:C1855285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000413",
- "lbl": "Atresia of the external auditory canal",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008547"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008564"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008626"
- }
- ],
- "definition": {
- "val": "Absence or failure to form of the external auditory canal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent ear canal",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent external auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atretic auditory canal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atretic auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atretic external auditory canal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atretic external auditory canals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Auditory canal atresia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "External acoustic meatus atresia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "External auditory canal atresia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "External auditory meatal atresia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "External auditory meatus atresia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Atresia of the external auditory canals",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1398325"
- },
- {
- "val": "UMLS:C1840305"
- },
- {
- "val": "UMLS:C1857079"
- },
- {
- "val": "UMLS:C1866190"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000414",
- "lbl": "Bulbous nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000443"
- }
- ],
- "comments": [
- "This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip."
- ],
- "definition": {
- "val": "Increased volume and globular shape of the anteroinferior aspect of the nose.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bulbous nose"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Potato nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Bulbous nasal tip"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538354"
- },
- {
- "val": "UMLS:C0240543"
- },
- {
- "val": "UMLS:C1834118"
- },
- {
- "val": "UMLS:C1855751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000415",
- "lbl": "Abnormality of the choanae",
- "meta": {
- "definition": {
- "val": "Abnormality of the choanae (the posterior nasal apertures).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025855"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000417",
- "lbl": "Slender nose",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender nose"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857645"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000418",
- "lbl": "Narrow nasal ridge",
- "meta": {
- "comments": [
- "This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately."
- ],
- "definition": {
- "val": "Decreased width of the nasal ridge.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of nasal ridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow nasal ridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pinched nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin nasal ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of dorsum of nose"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of nasal dorsum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow dorsum of nose"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow nasal dorsum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin dorsum of nose"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin nasal dorsum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000419",
- "lbl": "Abnormal nasal septum morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the nasal septum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nasal septum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of nasal septum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95433000"
- },
- {
- "val": "UMLS:C0151790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000420",
- "lbl": "Short nasal septum",
- "meta": {
- "definition": {
- "val": "Reduced superior to inferior length of the nasal septum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short nasal septum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of nasal septum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000421",
- "lbl": "Epistaxis",
- "meta": {
- "definition": {
- "val": "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent nosebleeds"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nose bleeding"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Nasal haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bloody nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nose bleed",
- "xrefs": [
- "NCIT:C26766"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nosebleed",
- "xrefs": [
- "NCIT:C26766"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal hemorrhage",
- "xrefs": [
- "NCIT:C26766"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "COHD:318556"
- },
- {
- "val": "EFO:0003895"
- },
- {
- "val": "ICD10:R04.0"
- },
- {
- "val": "ICD9:784.7"
- },
- {
- "val": "MSH:D004844"
- },
- {
- "val": "NCIT:C26766"
- },
- {
- "val": "SNOMEDCT_US:12441001"
- },
- {
- "val": "SNOMEDCT_US:249366005"
- },
- {
- "val": "UMLS:C0014591"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000422",
- "lbl": "Abnormal nasal bridge morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000423"
- }
- ],
- "comments": [
- "The nasal root is the most depressed, superior part of the nose along the nasal ridge."
- ],
- "definition": {
- "val": "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the bridge of the nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the bridge of the nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the bridge of the nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nasal root"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021805"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000426",
- "lbl": "Prominent nasal bridge",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000432"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000442"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004498"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005287"
- }
- ],
- "comments": [
- "A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately."
- ],
- "definition": {
- "val": "Anterior positioning of the nasal root in comparison to the usual positioning for age.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent nasal root"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Convex bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Convex nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854113"
- },
- {
- "val": "UMLS:C4230640"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000429",
- "lbl": "Abnormal morphology of the nasal alae",
- "meta": {
- "comments": [
- "The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris."
- ],
- "definition": {
- "val": "An abnormality of the Ala of nose.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nasal ala"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nasal alae"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Abnormality of the nasal alar cartilage",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the nasal ala",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the nasal alar cartilage",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the nasal ala",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the nasal alar cartilage",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2227020"
- },
- {
- "val": "UMLS:C4021804"
- },
- {
- "val": "UMLS:C4280631"
- },
- {
- "val": "UMLS:C4280632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000430",
- "lbl": "Underdeveloped nasal alae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004497"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004507"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005276"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005277"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005286"
- }
- ],
- "comments": [
- "The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed."
- ],
- "definition": {
- "val": "Thinned, deficient, or excessively arched ala nasi.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped tissue around nostril",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ala nasi, underdeveloped"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Alar cartilage hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic alae nasae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic alae nasi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic alar cartilage"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic alar nasae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nares"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nasal alae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nasal wings"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nostrils"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal cartilage hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin hypoplastic alae nasi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of nasal alae",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small nasal alae",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834055"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000431",
- "lbl": "Wide nasal bridge",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000424"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004500"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004504"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004650"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200139"
- }
- ],
- "comments": [
- "Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately."
- ],
- "definition": {
- "val": "Increased breadth of the nasal bridge (and with it, the nasal root).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad nasal root"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broadened nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal bridge broad"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widened nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad flat nasal bridge",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal bridge, wide"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249321001"
- },
- {
- "val": "UMLS:C1839764"
- },
- {
- "val": "UMLS:C1849367"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000433",
- "lbl": "Abnormal nasal mucosa morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nasal mucosa"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of mucosa of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of mucous membrane of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of nasal mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025854"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000434",
- "lbl": "Nasal mucosa telangiectasia",
- "meta": {
- "definition": {
- "val": "Telangiectasia of the nasal mucosa.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of mucosa of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of mucous membrane of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of nasal mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioectasia of mucosa of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioectasia of mucous membrane of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioectasia of nasal mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal mucous membrane telangiectasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia of mucosa of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia of mucous membrane of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia of nasal mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000436",
- "lbl": "Abnormal nasal tip morphology",
- "meta": {
- "comments": [
- "The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane."
- ],
- "definition": {
- "val": "An abnormality of the nasal tip.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025852"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000437",
- "lbl": "Depressed nasal tip",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005279"
- }
- ],
- "comments": [
- "This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately."
- ],
- "definition": {
- "val": "Decreased distance from the nasal tip to the nasal base.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Depressed nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal tip, depressed"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Caved in nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Depressed tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal tip, recessed"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal tip, retruded"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859717"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000444",
- "lbl": "Convex nasal ridge",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003683"
- }
- ],
- "definition": {
- "val": "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Beaked nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Beaklike protrusion"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hooked nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Polly beak nasal deformity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Convex dorsum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Convex nasal dorsum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000445",
- "lbl": "Wide nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000438"
- }
- ],
- "definition": {
- "val": "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nasal breadth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nasal width",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249321001"
- },
- {
- "val": "UMLS:C0426421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000446",
- "lbl": "Narrow nasal bridge",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100782"
- }
- ],
- "comments": [
- "The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age."
- ],
- "definition": {
- "val": "Decreased width of the bony bridge of the nose.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal Bridge, Narrow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal bridge, thin"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pinched nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pinched bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow nasal root"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4551564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000447",
- "lbl": "Pear-shaped nose",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pear-shaped nose"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853482"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000448",
- "lbl": "Prominent nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000461"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005271"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200140"
- }
- ],
- "definition": {
- "val": "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionately large nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nasal size",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pronounced nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hyperplasia of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypertrophy of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nasal hyperplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nasal hypertrophy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249311009"
- },
- {
- "val": "UMLS:C0426415"
- },
- {
- "val": "UMLS:C1400105"
- },
- {
- "val": "UMLS:C4280629"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000451",
- "lbl": "Triangular nasal tip",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular shaped tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839765"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000452",
- "lbl": "Choanal stenosis",
- "meta": {
- "definition": {
- "val": "Abnormal narrowing of the choana (the posterior nasal aperture).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of the rear opening of the nasal cavity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coanal stenosis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:306963008"
- },
- {
- "val": "UMLS:C0584837"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000453",
- "lbl": "Choanal atresia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000416"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004496"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004503"
- }
- ],
- "definition": {
- "val": "Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.",
- "xrefs": [
- "ORCID:0000-0001-5889-4463",
- "PMID:4996574"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blockage of the rear opening of the nasal cavity",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4203"
- },
- {
- "val": "MSH:D002754"
- },
- {
- "val": "SNOMEDCT_US:204508009"
- },
- {
- "val": "UMLS:C0008297"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000454",
- "lbl": "Flared nostrils",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flared nostrils"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flared nasal alae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:21558008"
- },
- {
- "val": "SNOMEDCT_US:248568003"
- },
- {
- "val": "UMLS:C0277873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000455",
- "lbl": "Broad nasal tip",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004501"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005269"
- }
- ],
- "comments": [
- "Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term."
- ],
- "definition": {
- "val": "Increase in width of the nasal tip.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad, upturned nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal tip, broad"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal tip, wide"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad upturned nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased breadth of tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249327002"
- },
- {
- "val": "UMLS:C0426429"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000456",
- "lbl": "Bifid nasal tip",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005282"
- }
- ],
- "comments": [
- "This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation."
- ],
- "definition": {
- "val": "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft nasal tip",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bifid tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249326006"
- },
- {
- "val": "UMLS:C0426428"
- },
- {
- "val": "UMLS:C4020890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000457",
- "lbl": "Depressed nasal ridge",
- "meta": {
- "comments": [
- "The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately."
- ],
- "definition": {
- "val": "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recessed nasal ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Depressed dorsum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Depressed nasal dorsum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat dorsum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat nasal dorsum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recessed dorsum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recessed nasal dorsum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded dorsum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded nasal dorsum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded nasal ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842876"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000458",
- "lbl": "Anosmia",
- "meta": {
- "definition": {
- "val": "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lost smell"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of smell"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000857"
- },
- {
- "val": "SNOMEDCT_US:44169009"
- },
- {
- "val": "UMLS:C0003126"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000460",
- "lbl": "Narrow nose",
- "meta": {
- "comments": [
- "Note: a small nose has both decreased height and a decreased width. These should be coded separately."
- ],
- "definition": {
- "val": "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased nasal breadth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased nasal width",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249322008"
- },
- {
- "val": "UMLS:C0426422"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000463",
- "lbl": "Anteverted nares",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000427"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000435"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000441"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004495"
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- ],
- "comments": [
- "The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed."
- ],
- "definition": {
- "val": "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).",
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- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal tip, upturned"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upturned nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upturned nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upturned nostrils",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anteverted nose"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anteverted nostrils"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nostrils anteverted"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upturned nares",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Upturned nasal tips",
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- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:708670007"
- },
- {
- "val": "UMLS:C1840077"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000464",
- "lbl": "Abnormality of the neck",
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- "val": "An abnormality of the neck.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the neck"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the neck",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298390003"
- },
- {
- "val": "SNOMEDCT_US:40052002"
- },
- {
- "val": "UMLS:C0266623"
- },
- {
- "val": "UMLS:C0575167"
- },
- {
- "val": "UMLS:C4280628"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000465",
- "lbl": "Webbed neck",
- "meta": {
- "definition": {
- "val": "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24523736"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Neck webbing"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed neck"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pterygium colli"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:11731003"
- },
- {
- "val": "UMLS:C0221217"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000466",
- "lbl": "Limited neck range of motion",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited neck range of motion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Limited cervical range of motion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859212"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000467",
- "lbl": "Neck muscle weakness",
- "meta": {
- "definition": {
- "val": "Decreased strength of the neck musculature.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Neck muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Floppy neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flaccid neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240479"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000468",
- "lbl": "Increased adipose tissue around the neck",
- "meta": {
- "definition": {
- "val": "An increased amount of subcutaneous fat tissue around the neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased fat around the neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025850"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000470",
- "lbl": "Short neck",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200137"
- }
- ],
- "definition": {
- "val": "Diminished length of the neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "val": "Short neck"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Decreased length of neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical shortening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased cervical height",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased cervical length",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95427009"
- },
- {
- "val": "UMLS:C0521525"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000471",
- "lbl": "Gastrointestinal angiodysplasia",
- "meta": {
- "definition": {
- "val": "Dysplasia affecting the vasculature of the gastrointestinal tract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "GI angiodysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0854242"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000472",
- "lbl": "Long neck",
- "meta": {
- "definition": {
- "val": "Increased inferior-superior length of the neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long neck"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elongated neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased length of neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical elongation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased cervical length",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839816"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000473",
- "lbl": "Torticollis",
- "meta": {
- "comments": [
- "The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia."
- ],
- "definition": {
- "val": "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wry neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical dystonia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spasmodic torticollis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loxia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014103"
- },
- {
- "val": "SNOMEDCT_US:270476009"
- },
- {
- "val": "SNOMEDCT_US:70070008"
- },
- {
- "val": "SNOMEDCT_US:74333002"
- },
- {
- "val": "UMLS:C0040485"
- },
- {
- "val": "UMLS:C0152116"
- },
- {
- "val": "UMLS:C0949445"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000474",
- "lbl": "Thickened nuchal skin fold",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000477"
- }
- ],
- "comments": [
- "The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org)."
- ],
- "definition": {
- "val": "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.",
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- "HPO:probinson",
- "PMID:16100637",
- "PMID:30431620"
- ]
- },
- "subsets": [
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- ],
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Thickened skin folds of neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickened skin over the neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Excess nuchal skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased nuchal fold"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased nuchal fold thickness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thick nuchal fold"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "UMLS:C1836940"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000475",
- "lbl": "Broad neck",
- "meta": {
- "definition": {
- "val": "Increased side-to-side width of the neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
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- "pred": "hasExactSynonym",
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- "val": "Broad neck"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of neck",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide neck",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
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- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853638"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000476",
- "lbl": "Cystic hygroma",
- "meta": {
- "comments": [
- "Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck."
- ],
- "definition": {
- "val": "A cystic lymphatic lesion of the neck.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cystic hygroma of the neck"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018191"
- },
- {
- "val": "NCIT:C8965"
- },
- {
- "val": "SNOMEDCT_US:399882002"
- },
- {
- "val": "SNOMEDCT_US:40225001"
- },
- {
- "val": "SNOMEDCT_US:423984004"
- },
- {
- "val": "UMLS:C0206620"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000478",
- "lbl": "Abnormality of the eye",
- "meta": {
- "definition": {
- "val": "Any abnormality of the eye, including location, spacing, and intraocular abnormalities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the eye"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eye disease"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal eye",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005124"
- },
- {
- "val": "MSH:D005128"
- },
- {
- "val": "SNOMEDCT_US:19416009"
- },
- {
- "val": "SNOMEDCT_US:371405004"
- },
- {
- "val": "SNOMEDCT_US:371409005"
- },
- {
- "val": "UMLS:C0015393"
- },
- {
- "val": "UMLS:C0015397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000479",
- "lbl": "Abnormal retinal morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007938"
- }
- ],
- "definition": {
- "val": "A structural abnormality of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retina issue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the retina"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the retina"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Retinal disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal retina",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012164"
- },
- {
- "val": "SNOMEDCT_US:29555009"
- },
- {
- "val": "UMLS:C0035300"
- },
- {
- "val": "UMLS:C0035309"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000480",
- "lbl": "Retinal coloboma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007808"
- }
- ],
- "definition": {
- "val": "A notch or cleft of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hole in the back of the eye",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3540764"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000481",
- "lbl": "Abnormal cornea morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007771"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007972"
- }
- ],
- "definition": {
- "val": "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cornea"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corneal abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corneal abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cornela disease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855670"
- },
- {
- "val": "UMLS:C4020889"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000482",
- "lbl": "Microcornea",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100688"
- }
- ],
- "comments": [
- "Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood."
- ],
- "definition": {
- "val": "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cornea of eye less than 10mm in diameter",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased corneal diameter"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:26098002"
- },
- {
- "val": "UMLS:C0266544"
- },
- {
- "val": "UMLS:C1167713"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000483",
- "lbl": "Astigmatism",
- "meta": {
- "comments": [
- "The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision."
- ],
- "definition": {
- "val": "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.",
- "xrefs": [
- "DDD:ncarter",
- "HPO:probinson",
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Astigmatism"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal curving of the cornea or lens of the eye",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001251"
- },
- {
- "val": "SNOMEDCT_US:82649003"
- },
- {
- "val": "UMLS:C0004106"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000484",
- "lbl": "Hyperopic astigmatism",
- "meta": {
- "definition": {
- "val": "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:449734001"
- },
- {
- "val": "UMLS:C1847524"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000485",
- "lbl": "Megalocornea",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007660"
- }
- ],
- "definition": {
- "val": "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged cornea",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior megalophthalmos"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased corneal diameter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrocornea"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562829"
- },
- {
- "val": "SNOMEDCT_US:204118005"
- },
- {
- "val": "SNOMEDCT_US:268158009"
- },
- {
- "val": "UMLS:C0344530"
- },
- {
- "val": "UMLS:C1167712"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000486",
- "lbl": "Strabismus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000487"
- }
- ],
- "definition": {
- "val": "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.",
- "xrefs": [
- "HPO:probinson",
- "PMID:26319345",
- "UManchester:psergouniotis"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cross-eyed"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Squint"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Squint eyes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013285"
- },
- {
- "val": "SNOMEDCT_US:128602000"
- },
- {
- "val": "SNOMEDCT_US:22066006"
- },
- {
- "val": "UMLS:C0038379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000487",
- "lbl": "obsolete Congenital strabismus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000486"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000488",
- "lbl": "Retinopathy",
- "meta": {
- "definition": {
- "val": "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Noninflammatory retina disease",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012164"
- },
- {
- "val": "SNOMEDCT_US:29555009"
- },
- {
- "val": "UMLS:C0035309"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000489",
- "lbl": "obsolete Abnormality of globe location or size",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0100886"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0100887"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000490",
- "lbl": "Deeply set eye",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000663"
- }
- ],
- "comments": [
- "This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer."
- ],
- "definition": {
- "val": "An eye that is more deeply recessed into the plane of the face than is typical.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep set eye"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep-set eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deeply set eye"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sunken eye"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enophthalmos"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular depression"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sunken eyes"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015841"
- },
- {
- "val": "SNOMEDCT_US:246923005"
- },
- {
- "val": "SNOMEDCT_US:80093006"
- },
- {
- "val": "UMLS:C0014306"
- },
- {
- "val": "UMLS:C0423224"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000491",
- "lbl": "Keratitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the cornea.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Corneal inflammation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007634"
- },
- {
- "val": "SNOMEDCT_US:5888003"
- },
- {
- "val": "UMLS:C0022568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000492",
- "lbl": "Abnormal eyelid morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000285"
- }
- ],
- "definition": {
- "val": "An abnormality of the eyelids.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the eyelid"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the eyelids"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021803"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000493",
- "lbl": "Abnormal foveal morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-04-02T01:29:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the fovea"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025849"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000494",
- "lbl": "Downslanted palpebral fissures",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007714"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007908"
- }
- ],
- "definition": {
- "val": "The palpebral fissure inclination is more than two standard deviations below the mean.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Downward slanting of the opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antimongoloid eye slant"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antimongoloid slant of palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antimongoloid slanted palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Down slanting palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Down-slanted palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Down-slanting palpebral fissure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Down-slanting palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Downslanting palpebral fissure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Downward slanted palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Downward-slanting palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palpebral fissures down-slanted"
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- "pred": "hasExactSynonym",
- "val": "Downslanting palpebral fissures",
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- "HPO:skoehler"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Downward slanting palpebral fissures",
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- "xrefs": [
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- "val": "SNOMEDCT_US:246800008"
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- "val": "UMLS:C0423110"
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- "type": "CLASS"
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- "lbl": "Recurrent corneal erosions",
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- "pred": "hasRelatedSynonym",
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- "val": "SNOMEDCT_US:91514001"
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- "val": "UMLS:C0010043"
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- "val": "UMLS:C0155119"
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- "val": "UMLS:C4020888"
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- "type": "CLASS"
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- "lbl": "Abnormality of eye movement",
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal extraocular movements"
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- "pred": "hasExactSynonym",
- "val": "Abnormal eye motility"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal ocular movements"
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- {
- "pred": "hasExactSynonym",
- "val": "Ocular movement abnormalities"
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- {
- "pred": "hasExactSynonym",
- "val": "Oculomotor abnormalities"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal motility of the globe of the eye",
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- "pred": "hasExactSynonym",
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- "val": "SNOMEDCT_US:103252009"
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- "val": "UMLS:C0497202"
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- "id": "http://purl.obolibrary.org/obo/HP_0000497",
- "lbl": "Globe retraction and deviation on abduction",
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- "val": "UMLS:C4025848"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000498",
- "lbl": "Blepharitis",
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- "val": "Inflammation of the eyelids.",
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- "pred": "hasExactSynonym",
- "val": "Cellulitis of eyelids",
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- "val": "MSH:D001762"
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- "val": "SNOMEDCT_US:231796003"
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- "val": "SNOMEDCT_US:41446000"
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- "val": "UMLS:C0005741"
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- "val": "UMLS:C0339063"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000499",
- "lbl": "Abnormal eyelash morphology",
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- "definition": {
- "val": "An abnormality of the eyelashes.",
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- "val": "Eyelash abnormality"
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- "val": "UMLS:C2675111"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000501",
- "lbl": "Glaucoma",
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- "The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population."
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- "definition": {
- "val": "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.",
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- "HPO:probinson",
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- "val": "MSH:D005901"
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- "val": "SNOMEDCT_US:23986001"
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- "val": "UMLS:C0017601"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000502",
- "lbl": "Abnormal conjunctiva morphology",
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- "The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva)."
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- "definition": {
- "val": "An abnormality of the conjunctiva.",
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- "HPO:curators"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000503",
- "lbl": "Tortuosity of conjunctival vessels",
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- "definition": {
- "val": "The presence of an increased number of twists and turns of the conjunctival blood vessels.",
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- "HPO:probinson"
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- "val": "UMLS:C1855391"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000504",
- "lbl": "Abnormality of vision",
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- "val": "Abnormality of eyesight (visual perception).",
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- "val": "Vision issue"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000505",
- "lbl": "Visual impairment",
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- "val": "MSH:C562941"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000508",
- "lbl": "Ptosis",
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- "definition": {
- "val": "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).",
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- "pred": "hasRelatedSynonym",
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- "val": "Eye drop"
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- "val": "Drooping upper eyelid",
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- "pred": "hasExactSynonym",
- "val": "Blepharoptosis"
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "lbl": "Conjunctivitis",
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- "type": "CLASS"
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- "lbl": "Rod-cone dystrophy",
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- "comments": [
- "Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience."
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- "val": "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.",
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- "id": "http://purl.obolibrary.org/obo/HP_0000511",
- "lbl": "Vertical supranuclear gaze palsy",
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- "comments": [
- "Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze."
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- "definition": {
- "val": "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.",
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- "lbl": "Abnormal electroretinogram",
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- "The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG."
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal electroretinography"
- },
- {
- "pred": "hasExactSynonym",
- "val": "ERG abnormal"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274524001"
- },
- {
- "val": "UMLS:C0476397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000514",
- "lbl": "Slow saccadic eye movements",
- "meta": {
- "comments": [
- "Saccades are rapid eye movements that align the fovea with the target."
- ],
- "definition": {
- "val": "An abnormally slow velocity of the saccadic eye movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow eye movements",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Slow saccades"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Slow visual tracking",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:404686001"
- },
- {
- "val": "UMLS:C1321329"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000517",
- "lbl": "Abnormal lens morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lens"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lens issue"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lens disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007905"
- },
- {
- "val": "SNOMEDCT_US:10810001"
- },
- {
- "val": "UMLS:C0023308"
- },
- {
- "val": "UMLS:C0549651"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000518",
- "lbl": "Cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001113"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007825"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010700"
- }
- ],
- "comments": [
- "Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity)."
- ],
- "definition": {
- "val": "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Clouding of the lens of the eye",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cloudy lens",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cataracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lens opacities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lens opacity"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4865"
- },
- {
- "val": "MSH:D002386"
- },
- {
- "val": "SNOMEDCT_US:128306009"
- },
- {
- "val": "SNOMEDCT_US:193570009"
- },
- {
- "val": "SNOMEDCT_US:247053007"
- },
- {
- "val": "UMLS:C0086543"
- },
- {
- "val": "UMLS:C1510497"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000519",
- "lbl": "Developmental cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001108"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007679"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007692"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007726"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007788"
- }
- ],
- "comments": [
- "In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy."
- ],
- "definition": {
- "val": "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Clouding of the lens of the eye at birth",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral congenital cataracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cataract, congenital"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital cataract"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital cataracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital cataracts, bilateral"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:609587005"
- },
- {
- "val": "SNOMEDCT_US:79410001"
- },
- {
- "val": "UMLS:C0009691"
- },
- {
- "val": "UMLS:C3277059"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000520",
- "lbl": "Proptosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000536"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000644"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000645"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007711"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007870"
- }
- ],
- "comments": [
- "Some sources define \"exophthalmos\" as a protrusion of the globe greater than 18 mm and \"proptosis\" as a protusion equal to or less than 18 mm. Others define \"exophthalmos\" as protusion secondary to endocrine dysfunction and \"proptosis\" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face."
- ],
- "definition": {
- "val": "An eye that is protruding anterior to the plane of the face to a greater extent than is typical.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent globes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bulging eye",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eyeballs bulging out",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior bulging of the globe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior bulging of the globe of eye"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Exophthalmos"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular proptosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Protrusio bulbi"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005094"
- },
- {
- "val": "SNOMEDCT_US:18265008"
- },
- {
- "val": "UMLS:C0015300"
- },
- {
- "val": "UMLS:C1837760"
- },
- {
- "val": "UMLS:C1848490"
- },
- {
- "val": "UMLS:C1862425"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000522",
- "lbl": "Alacrima",
- "meta": {
- "comments": [
- "Alacrima is generally a congenital deficiency."
- ],
- "definition": {
- "val": "Absence of tear secretion.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of tears in the eyes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent tear secretion",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent lacrimal fluids",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562827"
- },
- {
- "val": "SNOMEDCT_US:253215004"
- },
- {
- "val": "UMLS:C0344505"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000523",
- "lbl": "Subcapsular cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001490"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007978"
- }
- ],
- "definition": {
- "val": "A cataract that affects the region of the lens directly beneath the capsule of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Subcapsular cataracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subcapsular lenticular cataracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subcapsular opacities"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95723009"
- },
- {
- "val": "UMLS:C0235259"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000524",
- "lbl": "Conjunctival telangiectasia",
- "meta": {
- "definition": {
- "val": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small dilated blood vessels near membrane covering front of eye and eyelids",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Conjunctival telangiectases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia, conjunctival"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:231870008"
- },
- {
- "val": "UMLS:C0239105"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000525",
- "lbl": "Abnormality iris morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the iris"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025845"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000526",
- "lbl": "Aniridia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0011498"
- }
- ],
- "definition": {
- "val": "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24138039",
- "PMID:25313118",
- "PMID:29850208",
- "UManchester:psergouniotis"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent iris",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015783"
- },
- {
- "val": "SNOMEDCT_US:69278003"
- },
- {
- "val": "UMLS:C0003076"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000527",
- "lbl": "Long eyelashes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000500"
- }
- ],
- "comments": [
- "Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes."
- ],
- "definition": {
- "val": "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).",
- "xrefs": [
- "PMID:19125427",
- "PMID:26288407"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unusually long eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased length of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ciliary trichomegaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Eyelash trichomegaly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000528",
- "lbl": "Anophthalmia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001485"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007664"
- }
- ],
- "definition": {
- "val": "Absence of the globe or eyeball.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of eyeballs",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of development of eyeball",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing eyeball",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "No eyeball",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anophthalmia, clinical"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Clinical anophthalmia, unilateral/bilateral"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absence of globes of eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Missing globe of eye",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "No globe of eye",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular absence",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4864"
- },
- {
- "val": "MSH:D000853"
- },
- {
- "val": "SNOMEDCT_US:204099004"
- },
- {
- "val": "SNOMEDCT_US:7183006"
- },
- {
- "val": "UMLS:C0003119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000529",
- "lbl": "Progressive visual loss",
- "meta": {
- "basicPropertyValues": [
- {
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- "definition": {
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- "val": "Progressive vision loss"
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- "pred": "hasExactSynonym",
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- "val": "Progressive visual impairment"
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- "pred": "hasExactSynonym",
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- "val": "Slowly progressive visual loss"
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- {
- "pred": "hasExactSynonym",
- "val": "Loss of visual acuity"
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- {
- "pred": "hasExactSynonym",
- "val": "Progressive visual acuity loss"
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- "pred": "hasRelatedSynonym",
- "val": "Decreased visual acuity, progressive",
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- "lbl": "Corneal crystals",
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- "type": "CLASS"
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- "lbl": "Abnormal chorioretinal morphology",
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- "comments": [
- "The choroid is the vascular layer of the eye, located between the retina and the sclera."
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- "val": "An abnormality of the choroid and retina.",
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- "definition": {
- "val": "Atrophy of the choroid and retinal layers of the fundus.",
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- "val": "UMLS:C4048273"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000534",
- "lbl": "Abnormal eyebrow morphology",
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- "definition": {
- "val": "An abnormality of the eyebrow.",
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- "HPO:probinson"
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- "synonyms": [
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- "val": "Abnormality of the eyebrow"
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- "val": "UMLS:C4011556"
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- "type": "CLASS"
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- "lbl": "obsolete Sparse and thin eyebrow",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000537",
- "lbl": "Epicanthus inversus",
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- "definition": {
- "val": "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.",
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- "PMID:19125427"
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- "val": "SNOMEDCT_US:400956000"
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- "val": "UMLS:C1303003"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000538",
- "lbl": "Pseudopapilledema",
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- "comments": [
- "Papilledema is disc edema secondary to increased intracranial pressure."
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- "val": "Apparent optic disc swelling in the absence of increased intracranial pressure.",
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- "val": "MSH:C562401"
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- "val": "SNOMEDCT_US:57138009"
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- "val": "UMLS:C0155300"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000539",
- "lbl": "Abnormality of refraction",
- "meta": {
- "definition": {
- "val": "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.",
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- "HPO:probinson"
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- "val": "UMLS:C4025843"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000540",
- "lbl": "Hypermetropia",
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- "comments": [
- "The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D)."
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- "definition": {
- "val": "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Farsightedness"
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- "val": "Long-sightedness"
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- "val": "Hyperopia"
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- "val": "SNOMEDCT_US:38101003"
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- "type": "CLASS"
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- "lbl": "Retinal detachment",
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- "val": "HP:0008021"
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- ],
- "definition": {
- "val": "Separation of the inner layers of the retina (neural retina) from the pigment epithelium.",
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- "synonyms": [
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- "val": "Detached retina"
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- "val": "UMLS:C0035305"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000542",
- "lbl": "Impaired ocular adduction",
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- "Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement)."
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- "definition": {
- "val": "Reduced ability to move the eye in the direction of the nose.",
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- "val": "UMLS:C1846463"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000543",
- "lbl": "Optic disc pallor",
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- "comments": [
- "Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white."
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- "definition": {
- "val": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.",
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- "val": "Pale optic disk"
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- "val": "Disc pallor",
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- "val": "UMLS:C0554970"
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- "type": "CLASS"
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- "lbl": "External ophthalmoplegia",
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- "definition": {
- "val": "Paralysis of the external ocular muscles.",
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- "pred": "hasExactSynonym",
- "val": "Ophthalmoplegia externa"
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- "pred": "hasExactSynonym",
- "val": "Chronic progressive external ophthalmoplegia",
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- "pred": "hasExactSynonym",
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- "val": "MSH:D017246"
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- "val": "SNOMEDCT_US:19373007"
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- "val": "SNOMEDCT_US:46252003"
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- "val": "UMLS:C0162292"
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- "definition": {
- "val": "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.",
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- "definition": {
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- "lbl": "obsolete Tapetoretinal degeneration",
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- "lbl": "Cone/cone-rod dystrophy",
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- "id": "http://purl.obolibrary.org/obo/HP_0000549",
- "lbl": "Abnormal conjugate eye movement",
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- "definition": {
- "val": "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.",
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- "HPO:probinson"
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- "type": "CLASS"
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- "lbl": "Undetectable electroretinogram",
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- "val": "Lack of any response to stimulation upon electroretinography.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
- "val": "Absent electroretinogram"
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- "pred": "hasExactSynonym",
- "val": "Extinction of electroretinogram"
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- {
- "pred": "hasExactSynonym",
- "val": "Extinguished electroretinogram"
- },
- {
- "pred": "hasExactSynonym",
- "val": "No light-evoked response on electroretinogram"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Undetectable ERG"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855685"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000551",
- "lbl": "Color vision defect",
- "meta": {
- "definition": {
- "val": "An anomaly in the ability to discriminate between or recognize colors.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal color vision"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of color vision"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal colour vision"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Colour vision defect"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Colour vision defect, severe"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Colour vision defects"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Loss in colour vision"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Color vision defect, severe",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Color vision defects",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of colour vision"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Disturbed color vision"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Loss in color vision"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003117"
- },
- {
- "val": "SNOMEDCT_US:23289000"
- },
- {
- "val": "SNOMEDCT_US:367469000"
- },
- {
- "val": "UMLS:C0009398"
- },
- {
- "val": "UMLS:C0234629"
- },
- {
- "val": "UMLS:C3552853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000552",
- "lbl": "Tritanomaly",
- "meta": {
- "definition": {
- "val": "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Blue yellow colour blindness"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Blue/yellow colour vision defect"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blue yellow color blindness",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Blue-yellow dyschromatopsia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dyschromatopsia, blue-yellow"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Blue/yellow color vision defect",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003117"
- },
- {
- "val": "SNOMEDCT_US:51886007"
- },
- {
- "val": "SNOMEDCT_US:85049009"
- },
- {
- "val": "UMLS:C0155017"
- },
- {
- "val": "UMLS:C1970167"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000553",
- "lbl": "Abnormal uvea morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the uvea, the vascular layer of the eyeball.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the uvea"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025842"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000554",
- "lbl": "Uveitis",
- "meta": {
- "comments": [
- "The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid."
- ],
- "definition": {
- "val": "Inflammation of one or all portions of the uveal tract.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:D014605"
- },
- {
- "val": "SNOMEDCT_US:128473001"
- },
- {
- "val": "UMLS:C0042164"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000555",
- "lbl": "Leukocoria",
- "meta": {
- "comments": [
- "The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma)."
- ],
- "definition": {
- "val": "An abnormal white reflection from the pupil rather than the usual black reflection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Leukokoria",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "White pupillary reflex",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:1361009"
- },
- {
- "val": "UMLS:C0152458"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000556",
- "lbl": "Retinal dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007736"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007910"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007974"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007982"
- }
- ],
- "definition": {
- "val": "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breakdown of light-sensitive cells in back of eye",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D058499"
- },
- {
- "val": "SNOMEDCT_US:314407005"
- },
- {
- "val": "UMLS:C0854723"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000557",
- "lbl": "Buphthalmos",
- "meta": {
- "comments": [
- "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched."
- ],
- "definition": {
- "val": "Diffusely large eye (with megalocornea) associated with glaucoma."
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged eyeball",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/buphthalmos"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006871"
- },
- {
- "val": "UMLS:C4551507"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000558",
- "lbl": "Rieger anomaly",
- "meta": {
- "comments": [
- "Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea."
- ],
- "definition": {
- "val": "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C535679"
- },
- {
- "val": "SNOMEDCT_US:47507006"
- },
- {
- "val": "UMLS:C0265341"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000559",
- "lbl": "Corneal scarring",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D065306"
- },
- {
- "val": "SNOMEDCT_US:95726001"
- },
- {
- "val": "UMLS:C0349702"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000561",
- "lbl": "Absent eyelashes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002288"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004516"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004539"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007926"
- }
- ],
- "comments": [
- "Often this finding is congenital and associated with alopecia universalis, but this should be coded separately."
- ],
- "definition": {
- "val": "Lack of eyelashes.",
- "xrefs": [
- "HPO:curators",
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of development of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrichia of eyelashes"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Agenesis of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Aplasia of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843005"
- },
- {
- "val": "UMLS:C4280626"
- },
- {
- "val": "UMLS:C4280627"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000563",
- "lbl": "Keratoconus",
- "meta": {
- "comments": [
- "Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge."
- ],
- "definition": {
- "val": "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.",
- "xrefs": [
- "HPO:probinson",
- "PMID:7767020"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bulging cornea",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Conical cornea",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007640"
- },
- {
- "val": "SNOMEDCT_US:65636009"
- },
- {
- "val": "UMLS:C0022578"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000564",
- "lbl": "Lacrimal duct atresia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007729"
- }
- ],
- "definition": {
- "val": "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unopened tear duct",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Imperforate nasolacrimal ducts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasolacrimal duct atresia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:278530008"
- },
- {
- "val": "UMLS:C0344511"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000565",
- "lbl": "Esotropia",
- "meta": {
- "comments": [
- "Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria."
- ],
- "definition": {
- "val": "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inward turning cross eyed",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004948"
- },
- {
- "val": "SNOMEDCT_US:16596007"
- },
- {
- "val": "UMLS:C0014877"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000567",
- "lbl": "Chorioretinal coloboma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000611"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007718"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007784"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007956"
- }
- ],
- "definition": {
- "val": "Absence of a region of the retina, retinal pigment epithelium, and choroid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Birth defect that causes a hole in the innermost layer at the back of the eye",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Choroidoretinal coloboma"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Choroid coloboma"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Choroidal coloboma"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Coloboma of choroid"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:39302008"
- },
- {
- "val": "UMLS:C0240896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000568",
- "lbl": "Microphthalmia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007996"
- }
- ],
- "definition": {
- "val": "A developmental anomaly characterized by abnormal smallness of one or both eyes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of eyeball",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally small eyeball",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microphthalmos"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nanophthalmos"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decreased size of globe of eye",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormally small globe of eye",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4877"
- },
- {
- "val": "MSH:D008850"
- },
- {
- "val": "SNOMEDCT_US:204108000"
- },
- {
- "val": "SNOMEDCT_US:61142002"
- },
- {
- "val": "UMLS:C0026010"
- },
- {
- "val": "UMLS:C4280625"
- },
- {
- "val": "UMLS:C4280808"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000570",
- "lbl": "Abnormal saccadic eye movements",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000604"
- }
- ],
- "comments": [
- "Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades."
- ],
- "definition": {
- "val": "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of saccadic eye movements"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Impaired saccades"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842584"
- },
- {
- "val": "UMLS:C4025841"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000571",
- "lbl": "Hypometric saccades",
- "meta": {
- "definition": {
- "val": "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.",
- "xrefs": [
- "HPO:probinson",
- "PMID:572501"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:246768008"
- },
- {
- "val": "UMLS:C0423082"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000572",
- "lbl": "Visual loss",
- "meta": {
- "definition": {
- "val": "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of vision"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Visual loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Vision loss",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:7973008"
- },
- {
- "val": "UMLS:C3665386"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000573",
- "lbl": "Retinal hemorrhage",
- "meta": {
- "comments": [
- "The type of retinal hemorrhage and its clinical appearance depends on its location within the retina."
- ],
- "definition": {
- "val": "Hemorrhage occurring within the retina.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retinal bleeding"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Retinal haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Retinal haemorrhages"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Retinal hemorrhages",
- "xrefs": [
- "ORCID:0000-0002-0736-9199"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012166"
- },
- {
- "val": "SNOMEDCT_US:28998008"
- },
- {
- "val": "UMLS:C0035317"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000574",
- "lbl": "Thick eyebrow",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004546"
- }
- ],
- "comments": [
- "Thickness can be regional (medial, middle/central, lateral) or total."
- ],
- "definition": {
- "val": "Increased density/number and/or increased diameter of eyebrow hairs.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bushy eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dense eyebrow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heavy eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick eyebrow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick eyebrows",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypertrichosis of the eyebrow"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypertrichosis of the eyebrows",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853487"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000575",
- "lbl": "Scotoma",
- "meta": {
- "definition": {
- "val": "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blind spot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009898"
- },
- {
- "val": "MSH:D012607"
- },
- {
- "val": "SNOMEDCT_US:23388006"
- },
- {
- "val": "SNOMEDCT_US:81016008"
- },
- {
- "val": "UMLS:C0036454"
- },
- {
- "val": "UMLS:C0344233"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000576",
- "lbl": "Centrocecal scotoma",
- "meta": {
- "definition": {
- "val": "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D012607"
- },
- {
- "val": "SNOMEDCT_US:33014001"
- },
- {
- "val": "UMLS:C0271196"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000577",
- "lbl": "Exotropia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008033"
- }
- ],
- "definition": {
- "val": "A form of strabismus with one or both eyes deviated outward.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outward facing eye ball",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005099"
- },
- {
- "val": "SNOMEDCT_US:399054005"
- },
- {
- "val": "SNOMEDCT_US:399252000"
- },
- {
- "val": "UMLS:C0015310"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000579",
- "lbl": "Nasolacrimal duct obstruction",
- "meta": {
- "definition": {
- "val": "Blockage of the lacrimal duct.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blocked tear duct",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lacrimal duct obstruction"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007767"
- },
- {
- "val": "SNOMEDCT_US:231841004"
- },
- {
- "val": "SNOMEDCT_US:246865000"
- },
- {
- "val": "SNOMEDCT_US:314022009"
- },
- {
- "val": "SNOMEDCT_US:416920000"
- },
- {
- "val": "UMLS:C0022906"
- },
- {
- "val": "UMLS:C1281931"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000580",
- "lbl": "Pigmentary retinopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001146"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007702"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007821"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007852"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007869"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007934"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007961"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008010"
- }
- ],
- "definition": {
- "val": "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pigmentary retinal deposits"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigment clumping"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigmentary clumping"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigmentary degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012174"
- },
- {
- "val": "SNOMEDCT_US:28835009"
- },
- {
- "val": "UMLS:C0035334"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000581",
- "lbl": "Blepharophimosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000507"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000513"
- }
- ],
- "comments": [
- "When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus."
- ],
- "definition": {
- "val": "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of palpebral fissure",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016569"
- },
- {
- "val": "UMLS:C0005744"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000582",
- "lbl": "Upslanted palpebral fissure",
- "meta": {
- "definition": {
- "val": "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upward slanting of the opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mongoloid slant"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upslanting palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upward slanted palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upward slanting of palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upward slanting palpebral fissures"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Upslanted palpebral fissures",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:246799009"
- },
- {
- "val": "UMLS:C0423109"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000584",
- "lbl": "Punctate corneal epithelial erosions",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832170"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000585",
- "lbl": "Band keratopathy",
- "meta": {
- "definition": {
- "val": "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Calcific band keratopathy"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562399"
- },
- {
- "val": "SNOMEDCT_US:35055000"
- },
- {
- "val": "UMLS:C0155120"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000586",
- "lbl": "Shallow orbits",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002706"
- }
- ],
- "definition": {
- "val": "Reduced depth of the orbits associated with prominent-appearing ocular globes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased depth of eye sockets",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shallow eye sockets",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased depth of orbits",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small shallow orbits",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865244"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000587",
- "lbl": "Abnormality of the optic nerve",
- "meta": {
- "comments": [
- "The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination."
- ],
- "definition": {
- "val": "Abnormality of the optic nerve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Optic nerve issue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "optic nerve abnormalities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0029131"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000588",
- "lbl": "Optic disc coloboma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007997"
- }
- ],
- "comments": [
- "A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure."
- ],
- "definition": {
- "val": "A cleft of the optic nerve that extends inferiorly.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16219745"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Coloboma of optic nerve"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Optic disk coloboma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Optic nerve coloboma"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C535970"
- },
- {
- "val": "SNOMEDCT_US:17541006"
- },
- {
- "val": "SNOMEDCT_US:44295002"
- },
- {
- "val": "UMLS:C0155299"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000589",
- "lbl": "Coloboma",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007767"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007995"
- }
- ],
- "definition": {
- "val": "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched pupil"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular coloboma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular colobomas"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4311"
- },
- {
- "val": "MSH:D003103"
- },
- {
- "val": "SNOMEDCT_US:92828000"
- },
- {
- "val": "SNOMEDCT_US:93390002"
- },
- {
- "val": "UMLS:C0009363"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000590",
- "lbl": "Progressive external ophthalmoplegia",
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- "val": "HP:0000562"
- }
- ],
- "comments": [
- "Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term."
- ],
- "definition": {
- "val": "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "External ophthalmoplegia, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017246"
- },
- {
- "val": "SNOMEDCT_US:46252003"
- },
- {
- "val": "UMLS:C0162674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000591",
- "lbl": "Abnormal sclera morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the sclera.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the outer white part of eyeball",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the sclera"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025840"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000592",
- "lbl": "Blue sclerae",
- "meta": {
- "definition": {
- "val": "An abnormal bluish coloration of the sclera.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Grey sclerae"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Whites of eyes are a bluish-gray colour"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blue outer white part of eyeball",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Whites of eyes are a bluish-gray color",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Blue sclera"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bluish sclerae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gray sclerae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204164000"
- },
- {
- "val": "UMLS:C0542514"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000593",
- "lbl": "Abnormal anterior chamber morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the anterior chamber"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior chamber anomalies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular anterior chamber abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204142009"
- },
- {
- "val": "UMLS:C3152182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000594",
- "lbl": "Shallow anterior chamber",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007756"
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- ],
- "definition": {
- "val": "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:246986004"
- },
- {
- "val": "UMLS:C0423276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000597",
- "lbl": "Ophthalmoparesis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008044"
- }
- ],
- "definition": {
- "val": "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weakness of muscles controlling eye movement",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extraocular muscle palsy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extraocular muscle paralysis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Weakness of extraocular eye movement",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009886"
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- {
- "val": "UMLS:C0751401"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000598",
- "lbl": "Abnormality of the ear",
- "meta": {
- "comments": [
- "Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future."
- ],
- "definition": {
- "val": "An abnormality of the ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the ear"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ear anomaly"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:275259005"
- },
- {
- "val": "UMLS:C0266589"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000599",
- "lbl": "Abnormality of the frontal hairline",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-27T05:34:00Z"
- }
- ],
- "definition": {
- "val": "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the frontal hairline"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of hairline at front of head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025839"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000600",
- "lbl": "Abnormality of the pharynx",
- "meta": {
- "comments": [
- "The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system."
- ],
- "definition": {
- "val": "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025838"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000601",
- "lbl": "Hypotelorism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007877"
- }
- ],
- "definition": {
- "val": "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Closely spaced eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally close eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ocular hypotelorism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased distance between eye sockets",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased distance between eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased interpupillary distance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased orbital separation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:44593008"
- },
- {
- "val": "UMLS:C0424711"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000602",
- "lbl": "Ophthalmoplegia",
- "meta": {
- "definition": {
- "val": "Paralysis of one or more extraocular muscles that are responsible for eye movements.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eye muscle paralysis",
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- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Paralysis of extraocular eye movement",
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- "ORCID:0000-0001-5208-3432",
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009886"
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- {
- "val": "SNOMEDCT_US:16110005"
- },
- {
- "val": "UMLS:C0029089"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000603",
- "lbl": "Central scotoma",
- "meta": {
- "definition": {
- "val": "An area of depressed vision located at the point of fixation and that interferes with central vision.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blind spot located at fixation point",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Central blind spot",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Central scotomata"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012607"
- },
- {
- "val": "SNOMEDCT_US:38950008"
- },
- {
- "val": "UMLS:C0152191"
- },
- {
- "val": "UMLS:C4280624"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000605",
- "lbl": "Supranuclear gaze palsy",
- "meta": {
- "definition": {
- "val": "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Supranuclear gaze paralysis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:420675003"
- },
- {
- "val": "UMLS:C1720037"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000606",
- "lbl": "Abnormality of the periorbital region",
- "meta": {
- "definition": {
- "val": "An abnormality of the region situated around the orbit of the eye.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the region around the eye",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the region around the eye socket",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the periorbital region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the periorbital region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the periorbital region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025837"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000607",
- "lbl": "Periorbital wrinkles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wrinkles around the eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Excess periorbital skin wrinkling"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periorbital wrinkling"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periorbital rhytids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844605"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000608",
- "lbl": "Macular degeneration",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007694"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007868"
- }
- ],
- "definition": {
- "val": "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.",
- "xrefs": [
- "HPO:probinson",
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pigmented macular degeneration"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:422338006"
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- {
- "val": "UMLS:C0024437"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000609",
- "lbl": "Optic nerve hypoplasia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007273"
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- ],
- "definition": {
- "val": "Underdevelopment of the optic nerve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic optic nerves"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped optic nerves",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95499004"
- },
- {
- "val": "UMLS:C0338502"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000610",
- "lbl": "Abnormal choroid morphology",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001122"
- }
- ],
- "definition": {
- "val": "Any structural abnormality of the choroid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the choroid"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Choroid disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015862"
- },
- {
- "val": "UMLS:C0008521"
- },
- {
- "val": "UMLS:C4025836"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000611",
- "lbl": "obsolete Choroid coloboma",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000567"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000612",
- "lbl": "Iris coloboma",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007748"
- }
- ],
- "definition": {
- "val": "A coloboma of the iris.",
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- "HPO:probinson",
- "PMID:19369671"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cat eye",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coloboma of iris"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coloboma of the iris"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Keyhole iris"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240063"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000613",
- "lbl": "Photophobia",
- "meta": {
- "comments": [
- "Note that the term photodysphoria is used to describe extreme photophobia."
- ],
- "definition": {
- "val": "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Light hypersensitivity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extreme sensitivity of the eyes to light",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Photodysphoria"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020795"
- },
- {
- "val": "SNOMEDCT_US:246622003"
- },
- {
- "val": "SNOMEDCT_US:409668002"
- },
- {
- "val": "UMLS:C0085636"
- },
- {
- "val": "UMLS:C4020887"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000614",
- "lbl": "Abnormal nasolacrimal system morphology",
- "meta": {
- "comments": [
- "The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct."
- ],
- "definition": {
- "val": "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nasolacrimal system"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025835"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000615",
- "lbl": "Abnormal pupil morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0030960"
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- ],
- "definition": {
- "val": "An abnormality of the pupil.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the pupil"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pupillary abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pupillary abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal pupillary morphology"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274093008"
- },
- {
- "val": "UMLS:C0154936"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000616",
- "lbl": "Miosis",
- "meta": {
- "definition": {
- "val": "Abnormal (non-physiological) constriction of the pupil.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Constricted pupils",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pupillary constriction",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015877"
- },
- {
- "val": "SNOMEDCT_US:63251006"
- },
- {
- "val": "UMLS:C0026205"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000617",
- "lbl": "Abnormality of ocular smooth pursuit",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007671"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008006"
- }
- ],
- "comments": [
- "Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea."
- ],
- "definition": {
- "val": "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal smooth pursuits"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Disrupted ocular pursuit movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impaired smooth pursuit ocular movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular visual pursuit movements"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836393"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000618",
- "lbl": "Blindness",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007839"
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- ],
- "comments": [
- "Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source."
- ],
- "definition": {
- "val": "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.",
- "xrefs": [
- "DDD:gblack",
- "PMID:28779882"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blindness"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Legal blindness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Total vision loss"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4866"
- },
- {
- "val": "MSH:D001766"
- },
- {
- "val": "SNOMEDCT_US:65956007"
- },
- {
- "val": "UMLS:C0271215"
- },
- {
- "val": "UMLS:C0456909"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000619",
- "lbl": "Impaired convergence",
- "meta": {
- "comments": [
- "Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target."
- ],
- "definition": {
- "val": "Reduced ability to turn the eyes inward in order to focus on a nearby object.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Convergence insufficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015835"
- },
- {
- "val": "SNOMEDCT_US:194131002"
- },
- {
- "val": "UMLS:C0271379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000620",
- "lbl": "Dacryocystitis",
- "meta": {
- "comments": [
- "Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis."
- ],
- "definition": {
- "val": "Inflammation of the nasolacrimal sac.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dacrocystitis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Infection of the lacrimal sac",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/dacryocystitis"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003607"
- },
- {
- "val": "SNOMEDCT_US:85777005"
- },
- {
- "val": "UMLS:C0010930"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000621",
- "lbl": "Entropion",
- "meta": {
- "comments": [
- "The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon."
- ],
- "definition": {
- "val": "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123",
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eyelid folded in",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eyelid turned in",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inverted eyelid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004774"
- },
- {
- "val": "SNOMEDCT_US:33168009"
- },
- {
- "val": "UMLS:C0014390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000622",
- "lbl": "Blurred vision",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007723"
- }
- ],
- "comments": [
- "This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible."
- ],
- "definition": {
- "val": "Lack of sharpness of vision resulting in the inability to see fine detail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blurred vision"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:111516008"
- },
- {
- "val": "SNOMEDCT_US:246636008"
- },
- {
- "val": "UMLS:C0344232"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000623",
- "lbl": "Supranuclear ophthalmoplegia",
- "meta": {
- "definition": {
- "val": "A vertical gaze palsy with inability to direct the gaze of the eyes downwards.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20629667"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1408507"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000625",
- "lbl": "Eyelid coloboma",
- "meta": {
- "comments": [
- "The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral."
- ],
- "definition": {
- "val": "A short discontinuity of the margin of the lower or upper eyelid.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft eyelid"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched eyelid"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Full thickness defect of the eyelid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95202004"
- },
- {
- "val": "UMLS:C0521573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000627",
- "lbl": "Posterior embryotoxon",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100740"
- }
- ],
- "comments": [
- "Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant."
- ],
- "definition": {
- "val": "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Embryotoxon"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253228006"
- },
- {
- "val": "SNOMEDCT_US:392437005"
- },
- {
- "val": "UMLS:C0344531"
- },
- {
- "val": "UMLS:C0546967"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000629",
- "lbl": "Periorbital fullness",
- "meta": {
- "definition": {
- "val": "Increase in periorbital soft tissue.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Puffiness around eye",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fullness around the eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periorbital puffiness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periorbital swelling"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Puffy eyes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Swelling around the eyes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858036"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000630",
- "lbl": "Abnormal retinal artery morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of retinal arteries"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retinal arterial abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021802"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000631",
- "lbl": "Retinal arterial tortuosity",
- "meta": {
- "definition": {
- "val": "The presence of an increased number of twists and turns of the retinal artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Retinal artery tortuousity"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:247123003"
- },
- {
- "val": "UMLS:C0423401"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000632",
- "lbl": "Lacrimation abnormality",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000521"
- }
- ],
- "definition": {
- "val": "Abnormality of tear production.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of tear production"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021801"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000633",
- "lbl": "Decreased lacrimation",
- "meta": {
- "definition": {
- "val": "Abnormally decreased lacrimation, that is, reduced ability to produce tears.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased tear secretion",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0235857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000634",
- "lbl": "Impaired ocular abduction",
- "meta": {
- "definition": {
- "val": "An impaired ability of the eye to move in the outward direction (towards the side of the head).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1846462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000635",
- "lbl": "Blue irides",
- "meta": {
- "definition": {
- "val": "A markedly blue coloration of the iris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blue eyes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:301952009"
- },
- {
- "val": "UMLS:C0578626"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000636",
- "lbl": "Upper eyelid coloboma",
- "meta": {
- "definition": {
- "val": "A short discontinuity of the margin of the upper eyelid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft upper eyelid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched upper eyelid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coloboma of the upper eyelid"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upper eyelid colobomas"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Full thickness defect of the upper eyelid",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- {
- "val": "UMLS:C1863872"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000637",
- "lbl": "Long palpebral fissure",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007904"
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- "definition": {
- "val": "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.",
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- "PMID:19125427"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Broad opening between the eyelids",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long opening between the eyelids",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide opening between the eyelids",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide palpebral fissures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad palpebral fissure",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Long palpebral fissures",
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- "HPO:skoehler"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide palpebral fissure",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849340"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000639",
- "lbl": "Nystagmus",
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- "definition": {
- "val": "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.",
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- "HPO:curators"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary, rapid, rhythmic eye movements",
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- "orcid.org/0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009759"
- },
- {
- "val": "SNOMEDCT_US:563001"
- },
- {
- "val": "UMLS:C0028738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000640",
- "lbl": "Gaze-evoked nystagmus",
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- "definition": {
- "val": "Nystagmus made apparent by looking to the right or to the left.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D009760"
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- {
- "val": "SNOMEDCT_US:29356006"
- },
- {
- "val": "UMLS:C0271390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000641",
- "lbl": "Dysmetric saccades",
- "meta": {
- "definition": {
- "val": "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.",
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- "HPO:probinson",
- "PMID:572501"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uncoordinated eye movement",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysmetric eye saccades"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysmetric eye movements",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836392"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000642",
- "lbl": "Red-green dyschromatopsia",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007960"
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- ],
- "definition": {
- "val": "Difficulty with discriminating red and green hues.",
- "xrefs": [
- "DDD:gblack"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Red green colour blindness"
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Red/green colour vision defect"
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- {
- "pred": "hasExactSynonym",
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- "val": "Red green color blindness",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Dyschromatopsia with red-green confusion"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Red/green color vision defect",
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- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003117"
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- {
- "val": "SNOMEDCT_US:246674000"
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- "val": "SNOMEDCT_US:77479002"
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- {
- "val": "UMLS:C0155016"
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- {
- "val": "UMLS:C1970168"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000643",
- "lbl": "Blepharospasm",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007907"
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- ],
- "definition": {
- "val": "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eyelid spasm",
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- "ORCID:0000-0001-5208-3432",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eyelid twitching",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary closure of eyelid",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spontaneous closure of eyelid",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001764"
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- {
- "val": "SNOMEDCT_US:59026006"
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- {
- "val": "UMLS:C0005747"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000646",
- "lbl": "Amblyopia",
- "meta": {
- "comments": [
- "Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes."
- ],
- "definition": {
- "val": "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Lazy eye",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wandering eye",
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- "ORCID:0000-0001-5208-3432",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Wandering eyes",
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- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000550"
- },
- {
- "val": "SNOMEDCT_US:387742006"
- },
- {
- "val": "UMLS:C0002418"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000647",
- "lbl": "Sclerocornea",
- "meta": {
- "definition": {
- "val": "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hardening of skin and connective tissue",
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- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:C565209"
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- {
- "val": "UMLS:C1853235"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000648",
- "lbl": "Optic atrophy",
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- "val": "HP:0007855"
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- ],
- "comments": [
- "The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion."
- ],
- "definition": {
- "val": "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
- "val": "Optic nerve atrophy"
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- {
- "pred": "hasExactSynonym",
- "val": "Optic-nerve degeneration"
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- ],
- "xrefs": [
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- "val": "MSH:D009896"
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- "val": "SNOMEDCT_US:76976005"
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- "val": "UMLS:C0029124"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000649",
- "lbl": "Abnormality of visual evoked potentials",
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- "comments": [
- "The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent."
- ],
- "definition": {
- "val": "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.",
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- "HPO:probinson",
- "PMID:19826847"
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- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Abnormal vision evoked potentials"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal visual evoked potential"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal visual evoked responses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal visual-evoked potentials"
- },
- {
- "pred": "hasExactSynonym",
- "val": "VEP abnormalities"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:102968003"
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- {
- "val": "UMLS:C0522214"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000650",
- "lbl": "Abnormal amplitude of pattern reversal visual evoked potentials",
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- {
- "val": "UMLS:C4025834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000651",
- "lbl": "Diplopia",
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- "definition": {
- "val": "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Double vision"
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- ],
- "xrefs": [
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- "val": "MSH:D004172"
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- {
- "val": "SNOMEDCT_US:24982008"
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- {
- "val": "UMLS:C0012569"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000652",
- "lbl": "Lower eyelid coloboma",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007909"
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- ],
- "definition": {
- "val": "A short discontinuity of the margin of the lower eyelid.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft lower eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched lower eyelid",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coloboma of lower eyelid"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower lid coloboma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Full thickness defect of the lower eyelid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837826"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000653",
- "lbl": "Sparse eyelashes",
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- "val": "HP:0004519"
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- "val": "HP:0004531"
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- "val": "HP:0004555"
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- "val": "HP:0004777"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007853"
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- ],
- "definition": {
- "val": "Decreased density/number of eyelashes.",
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- "PMID:19125427"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Scant eyelashes"
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- "pred": "hasExactSynonym",
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- "val": "Scanty eyelashes"
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- "pred": "hasExactSynonym",
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- "val": "Sparse eyelashes"
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- {
- "pred": "hasExactSynonym",
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- "val": "Thin eyelashes",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrichosis of eyelashes",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasExactSynonym",
- "val": "Partial absence of eyelashes",
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- "ORCID:0000-0001-5889-4463"
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- "val": "UMLS:C1843300"
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- "type": "CLASS"
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- {
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- "lbl": "Decreased light- and dark-adapted electroretinogram amplitude",
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- "val": "HP:0007689"
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- "val": "HP:0007845"
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- ],
- "definition": {
- "val": "Descreased amplitude of eletrical response upon electroretinography.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased ERG amplitude"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased amplitudes on flash visual electroretinogram"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased electroretinogram"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased electroretinogram amplitude"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased electroretinogram response"
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Reduced ERG"
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- {
- "pred": "hasExactSynonym",
- "val": "Reduced electroretinogram"
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- {
- "pred": "hasExactSynonym",
- "val": "Reduced or abolished electroretinogram"
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- ],
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- "type": "CLASS"
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- {
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- "lbl": "obsolete Vitreoretinal degeneration",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000656",
- "lbl": "Ectropion",
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- "comments": [
- "Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid."
- ],
- "definition": {
- "val": "An outward turning (eversion) or rotation of the eyelid margin.",
- "xrefs": [
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- "pred": "hasRelatedSynonym",
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- "Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements."
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- "id": "http://purl.obolibrary.org/obo/HP_0000659",
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- "definition": {
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- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000678",
- "lbl": "Dental crowding",
- "meta": {
- "comments": [
- "Overlapping teeth within an alveolar ridge."
- ],
- "definition": {
- "val": "Changes in alignment of teeth in the dental arch",
- "xrefs": [
- "PMID:19125428",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crowded teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental crowding"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental overcrowding"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tooth size discrepancy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overcrowding of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Inadequate arch length for tooth size",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Tooth mass arch size discrepancy",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008310"
- },
- {
- "val": "SNOMEDCT_US:12351004"
- },
- {
- "val": "SNOMEDCT_US:699222000"
- },
- {
- "val": "UMLS:C0040433"
- },
- {
- "val": "UMLS:C1317785"
- },
- {
- "val": "UMLS:C4280617"
- },
- {
- "val": "UMLS:C4280618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000679",
- "lbl": "Taurodontia",
- "meta": {
- "comments": [
- "Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged."
- ],
- "definition": {
- "val": "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Taurodontism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Taurodont",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Large elongated pulp chamber",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536946"
- },
- {
- "val": "SNOMEDCT_US:51744007"
- },
- {
- "val": "UMLS:C0266039"
- },
- {
- "val": "UMLS:C4280616"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000680",
- "lbl": "Delayed eruption of primary teeth",
- "meta": {
- "definition": {
- "val": "Delayed tooth eruption affecting the primary dentition.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption of milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late eruption of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late eruption of milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed eruption of deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed primary teeth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late eruption of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000682",
- "lbl": "Abnormal dental enamel morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006322"
- }
- ],
- "comments": [
- "The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite."
- ],
- "definition": {
- "val": "An abnormality of the dental enamel.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal tooth enamel"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enamel abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enamel abnormality"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Defective tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of dental enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of dental enamel"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Dystrophic tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021800"
- },
- {
- "val": "UMLS:C4280262"
- },
- {
- "val": "UMLS:C4280615"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000683",
- "lbl": "Grayish enamel",
- "meta": {
- "comments": [
- "Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present."
- ],
- "definition": {
- "val": "A grey discoloration of the dental enamel.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Grayish enamel"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Greyish enamel"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Grey coloured tooth enamel"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Grey tooth shade"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gray colored tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gray tooth shade",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854783"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000684",
- "lbl": "Delayed eruption of teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000686"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006294"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006314"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006328"
- }
- ],
- "comments": [
- "This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations."
- ],
- "definition": {
- "val": "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:19125428",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed teeth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed tooth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eruption, delayed"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late eruption of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late tooth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed dental development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed dental eruption"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:5639000"
- },
- {
- "val": "UMLS:C0239174"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000685",
- "lbl": "Hypoplasia of teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000688"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006281"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006307"
- }
- ],
- "definition": {
- "val": "Developmental hypoplasia of teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic teeth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0235357"
- },
- {
- "val": "UMLS:C4280611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000687",
- "lbl": "Widely spaced teeth",
- "meta": {
- "comments": [
- "Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema."
- ],
- "definition": {
- "val": "Increased spaces (diastemata) between most of the teeth in the same dental arch.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide-spaced teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely-spaced teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised dental spacing"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised spacing of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple diastemata"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized dental spacing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized spacing of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844813"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000689",
- "lbl": "Dental malocclusion",
- "meta": {
- "definition": {
- "val": "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.",
- "xrefs": [
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bad bite",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malalignment of upper and lower dental arches",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Misalignment of upper and lower dental arches",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malocclusion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Occlusion anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral crossbite",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral crossbite malocclusion",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Incorrect relation between upper and lower dental arches",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malocclusion of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Angle class 2 malocclusion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Angle class 3 malocclusion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008310"
- },
- {
- "val": "SNOMEDCT_US:47944004"
- },
- {
- "val": "SNOMEDCT_US:707598004"
- },
- {
- "val": "UMLS:C0024636"
- },
- {
- "val": "UMLS:C4280613"
- },
- {
- "val": "UMLS:C4280614"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000690",
- "lbl": "Agenesis of maxillary lateral incisor",
- "meta": {
- "definition": {
- "val": "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent upper lateral incisors"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Absence of maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Missing maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849950"
- },
- {
- "val": "UMLS:C4083046"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000691",
- "lbl": "Microdontia",
- "meta": {
- "comments": [
- "Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately."
- ],
- "definition": {
- "val": "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tooth hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tooth hypotrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped tooth"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypotrophic tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:32337007"
- },
- {
- "val": "UMLS:C0240340"
- },
- {
- "val": "UMLS:C4280611"
- },
- {
- "val": "UMLS:C4280612"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000692",
- "lbl": "Tooth malposition",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000693"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001569"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006303"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006478"
- }
- ],
- "definition": {
- "val": "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal dental position"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal teeth spacing"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of teeth spacing"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malaligned teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malposition of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malpositioned teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Misalignment of teeth"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of position of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of alignment of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crooked teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Teeth, malposition"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1852504"
- },
- {
- "val": "UMLS:C4280610"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000694",
- "lbl": "Odontodysplasia",
- "meta": {
- "definition": {
- "val": "The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ghost teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shell teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Teeth with dentinal dysplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Teeth with thin dentin and large pulp chambers",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Teeth with type iii dentinogenesis imperfecta",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:67504007"
- },
- {
- "val": "UMLS:C2981132"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000695",
- "lbl": "Natal tooth",
- "meta": {
- "comments": [
- "A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation."
- ],
- "definition": {
- "val": "A tooth present at birth or erupting within the first month of life.",
- "xrefs": [
- "PMID:19125428",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Born with teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Teeth present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Natal teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neonatal teeth"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009306"
- },
- {
- "val": "SNOMEDCT_US:21995002"
- },
- {
- "val": "SNOMEDCT_US:58748004"
- },
- {
- "val": "UMLS:C0027443"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000696",
- "lbl": "Delayed eruption of permanent teeth",
- "meta": {
- "definition": {
- "val": "Delayed tooth eruption affecting the secondary dentition.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption of permanent teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed eruption of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed eruption of secondary dentition"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed eruption of secondary teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed permanent dentition"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849540"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000698",
- "lbl": "Conical tooth",
- "meta": {
- "comments": [
- "A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately."
- ],
- "definition": {
- "val": "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone shaped tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shark tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Peg shaped tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Peg shaped teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Peg tooth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Peg-shaped teeth"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Conical teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Conoid tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:29553002"
- },
- {
- "val": "UMLS:C0266037"
- },
- {
- "val": "UMLS:C4012359"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000699",
- "lbl": "Diastema",
- "meta": {
- "comments": [
- "Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth."
- ],
- "definition": {
- "val": "Increased space between two adjacent teeth in the same dental arch.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gaps between teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between teeth",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dental diastasis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dental diastema",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diastasis of the teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diastema of the teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003970"
- },
- {
- "val": "SNOMEDCT_US:35591002"
- },
- {
- "val": "UMLS:C0011998"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000700",
- "lbl": "Periapical bone loss",
- "meta": {
- "comments": [
- "Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions."
- ],
- "definition": {
- "val": "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dark spot around tooth root on x-ray",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone loss around tooth root",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Periapical radiolucencies"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Periapical radiolucency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Periapical lesion",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Periapical cyst",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Periapical granuloma",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010484"
- },
- {
- "val": "MSH:D011842"
- },
- {
- "val": "SNOMEDCT_US:81407003"
- },
- {
- "val": "SNOMEDCT_US:89988002"
- },
- {
- "val": "UMLS:C0031029"
- },
- {
- "val": "UMLS:C0034543"
- },
- {
- "val": "UMLS:C1852169"
- },
- {
- "val": "UMLS:C4280609"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000703",
- "lbl": "Dentinogenesis imperfecta",
- "meta": {
- "comments": [
- "This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss."
- ],
- "definition": {
- "val": "Developmental dysplasia of dentin.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:D003811"
- },
- {
- "val": "SNOMEDCT_US:196286005"
- },
- {
- "val": "UMLS:C0011436"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000704",
- "lbl": "Periodontitis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000165"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006301"
- }
- ],
- "definition": {
- "val": "Inflammation of the periodontium.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gum disease",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Periodontal disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pyorrhea",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005882"
- },
- {
- "val": "MSH:D010510"
- },
- {
- "val": "MSH:D010518"
- },
- {
- "val": "SNOMEDCT_US:18718003"
- },
- {
- "val": "SNOMEDCT_US:2556008"
- },
- {
- "val": "SNOMEDCT_US:41565005"
- },
- {
- "val": "UMLS:C0017563"
- },
- {
- "val": "UMLS:C0031090"
- },
- {
- "val": "UMLS:C0031099"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000705",
- "lbl": "Amelogenesis imperfecta",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006284"
- },
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- "val": "HP:0006310"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006325"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006327"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006331"
- }
- ],
- "comments": [
- "Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations."
- ],
- "definition": {
- "val": "A developmental dysplasia of the dental enamel.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:18499550"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:D000567"
- },
- {
- "val": "SNOMEDCT_US:78494001"
- },
- {
- "val": "UMLS:C0002452"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000706",
- "lbl": "Eruption failure",
- "meta": {
- "comments": [
- "Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations."
- ],
- "definition": {
- "val": "A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unerupted tooth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of eruption of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pseudo-anodontia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pseudoanodontia"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Unerupted dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:109542004"
- },
- {
- "val": "UMLS:C1290587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000707",
- "lbl": "Abnormality of the nervous system",
- "meta": {
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- "val": "Autistic behaviours"
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- "pred": "hasRelatedSynonym",
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- "val": "Autism spectrum disorders",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Pervasive developmental disorder"
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- "pred": "hasRelatedSynonym",
- "val": "Autistic behaviors",
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- "val": "MSH:D000067877"
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- {
- "val": "UMLS:C0856975"
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- "val": "UMLS:C1510586"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000732",
- "lbl": "Inflexible adherence to routines or rituals",
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- {
- "val": "UMLS:C1837653"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000733",
- "lbl": "Motor stereotypy",
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- "An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps."
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- "pred": "hasExactSynonym",
- "val": "Stereotyped, repetitive behavior"
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- "pred": "hasExactSynonym",
- "val": "Stereotyped, repetitive behaviour"
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- "pred": "hasExactSynonym",
- "val": "Stereotypic behavior"
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- "pred": "hasExactSynonym",
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- "val": "MSH:D013239"
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- "val": "MSH:D019956"
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- "val": "SNOMEDCT_US:5507002"
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- "val": "SNOMEDCT_US:84328007"
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- "val": "UMLS:C0038271"
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- "val": "UMLS:C0038273"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000734",
- "lbl": "Disinhibition",
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- "Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives."
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- "definition": {
- "val": "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.",
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- "HPO:sdoelken"
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- },
- "synonyms": [
- {
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- "val": "Disinhibition"
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- "val": "SNOMEDCT_US:247977003"
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- "val": "UMLS:C0424296"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000735",
- "lbl": "Impaired social interactions",
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- "definition": {
- "val": "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired social interactions"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor social interactions"
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- ],
- "xrefs": [
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- "val": "MSH:D000067404"
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- "val": "SNOMEDCT_US:88598008"
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- "val": "UMLS:C0150080"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000736",
- "lbl": "Short attention span",
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- "definition": {
- "val": "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.",
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- "HPO:curators"
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
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- "val": "Easily distracted"
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- "val": "Poor attention span"
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- "pred": "hasExactSynonym",
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- "val": "Problem paying attention"
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- "val": "SNOMEDCT_US:247762003"
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- "val": "UMLS:C0262630"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000737",
- "lbl": "Irritability",
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- "definition": {
- "val": "A proneness to anger, i.e., a condition of being easily bothered or annoyed.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000738",
- "lbl": "Hallucinations",
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- "definition": {
- "val": "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.",
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- "val": "Hallucination"
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- "pred": "hasExactSynonym",
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- "val": "Hallucinations"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sensory hallucination",
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- "ORCID:0000-0001-6908-9849"
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- "xrefs": [
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- "val": "MSH:D006212"
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- "val": "SNOMEDCT_US:7011001"
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- "val": "UMLS:C0018524"
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- "val": "UMLS:C0235153"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000739",
- "lbl": "Anxiety",
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- "definition": {
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- "pred": "hasExactSynonym",
- "val": "Anxiousness"
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- "val": "MSH:D001007"
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- "val": "SNOMEDCT_US:48694002"
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- "val": "UMLS:C0003467"
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- "val": "UMLS:C4020884"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000740",
- "lbl": "Episodic paroxysmal anxiety",
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- "comments": [
- "An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings."
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- "definition": {
- "val": "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable."
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- {
- "val": "UMLS:C1854339"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000741",
- "lbl": "Apathy",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "https://orcid.org/0000-0002-6548-5200"
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- "xrefs": [
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- "val": "MSH:D057565"
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- "val": "SNOMEDCT_US:20602000"
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- "val": "UMLS:C0085632"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000742",
- "lbl": "Self-mutilation",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Self mutilation"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Self-mutilation"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deliberate self-harm",
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- "ORCID:0000-0001-5208-3432"
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- "val": "MSH:D012652"
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- "val": "SNOMEDCT_US:130968006"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000743",
- "lbl": "Frontal release signs",
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- "type": "CLASS"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000745",
- "lbl": "Diminished motivation",
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- "pred": "hasExactSynonym",
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- "val": "Lack of initiative"
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- "pred": "hasExactSynonym",
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- "val": "Lack of motivation"
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- "type": "CLASS"
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- "lbl": "Inappropriate laughter",
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- "val": "UMLS:C0424304"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000749",
- "lbl": "Paroxysmal bursts of laughter",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000750",
- "lbl": "Delayed speech and language development",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Language delayed"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Language development deficit"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late-onset speech development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor language development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech and language delay"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech and language difficulties"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech delay"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech difficulties"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed speech",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor speech acquisition",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor speech development",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007805"
- },
- {
- "val": "SNOMEDCT_US:162294008"
- },
- {
- "val": "SNOMEDCT_US:229721007"
- },
- {
- "val": "SNOMEDCT_US:29164008"
- },
- {
- "val": "SNOMEDCT_US:62415009"
- },
- {
- "val": "UMLS:C0023012"
- },
- {
- "val": "UMLS:C0233715"
- },
- {
- "val": "UMLS:C0241210"
- },
- {
- "val": "UMLS:C0454644"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000751",
- "lbl": "Personality changes",
- "meta": {
- "comments": [
- "This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations."
- ],
- "definition": {
- "val": "An abnormal shift in patterns of thinking, acting, or feeling.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Personality change"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Personality changes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:102943000"
- },
- {
- "val": "SNOMEDCT_US:192073007"
- },
- {
- "val": "UMLS:C0240735"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000752",
- "lbl": "Hyperactivity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008764"
- }
- ],
- "definition": {
- "val": "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.",
- "xrefs": [
- "ORCID:0000-0002-6713-2943"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hyperactive behaviour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "More active than typical",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperactive behavior"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006948"
- },
- {
- "val": "SNOMEDCT_US:44548000"
- },
- {
- "val": "UMLS:C0424295"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000753",
- "lbl": "Autism with high cognitive abilities",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025832"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000756",
- "lbl": "Agoraphobia",
- "meta": {
- "definition": {
- "val": "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fear of open spaces",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000379"
- },
- {
- "val": "SNOMEDCT_US:247830007"
- },
- {
- "val": "SNOMEDCT_US:70691001"
- },
- {
- "val": "UMLS:C0001818"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000757",
- "lbl": "Lack of insight",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of insight"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:24340004"
- },
- {
- "val": "UMLS:C0233824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000758",
- "lbl": "Abnormal nonverbal communicative behavior",
- "meta": {
- "definition": {
- "val": "Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired use of nonverbal behaviors"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired use of nonverbal behaviours"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000759",
- "lbl": "Abnormal peripheral nervous system morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003483"
- }
- ],
- "comments": [
- "The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves."
- ],
- "definition": {
- "val": "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal peripheral nervous system structure"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Peripheral nervous system disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010523"
- },
- {
- "val": "SNOMEDCT_US:302226006"
- },
- {
- "val": "SNOMEDCT_US:42658009"
- },
- {
- "val": "UMLS:C0031117"
- },
- {
- "val": "UMLS:C4025831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000762",
- "lbl": "Decreased nerve conduction velocity",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000761"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007118"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007218"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007231"
- }
- ],
- "comments": [
- "Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy."
- ],
- "definition": {
- "val": "A reduction in the speed at which electrical signals propagate along the axon of a neuron.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased NCV"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased nerve conduction velocities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed nerve conduction velocity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced nerve conduction velocities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Slow nerve conduction velocity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Slowed nerve conduction velocities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857640"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000763",
- "lbl": "Sensory neuropathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003410"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006815"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007043"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007142"
- }
- ],
- "definition": {
- "val": "Peripheral neuropathy affecting the sensory nerves.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Damage to nerves that sense feeling",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Peripheral sensory neuropathy"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95662005"
- },
- {
- "val": "UMLS:C0151313"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000764",
- "lbl": "Peripheral axonal degeneration",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006787"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006876"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007304"
- }
- ],
- "comments": [
- "This finding is typically demonstrated by nerve biopsy."
- ],
- "definition": {
- "val": "Progressive deterioration of peripheral axons.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025830"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000765",
- "lbl": "Abnormal thorax morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100655"
- }
- ],
- "definition": {
- "val": "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the chest"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the thorax"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Structural abnormality of the chest wall"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021797"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000766",
- "lbl": "Abnormal sternum morphology",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0000780"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006586"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006594"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006605"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006630"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006708"
- }
- ],
- "definition": {
- "val": "An anomaly of the sternum, also known as the breastbone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the sternum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sternal anomalies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus carinatum or pectus excavatum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus deformities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus deformity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus excavatum or carinatum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus excavatum or pectus carinatum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pectus excavatum/carinatum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860493"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000767",
- "lbl": "Pectus excavatum",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0006613"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006617"
- }
- ],
- "definition": {
- "val": "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Funnel chest"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:391987005"
- },
- {
- "val": "UMLS:C2051831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000768",
- "lbl": "Pectus carinatum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006639"
- }
- ],
- "definition": {
- "val": "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigeon chest",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/pectus_carinatum"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D066166"
- },
- {
- "val": "SNOMEDCT_US:205101001"
- },
- {
- "val": "UMLS:C0158731"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000769",
- "lbl": "Abnormality of the breast",
- "meta": {
- "definition": {
- "val": "An abnormality of the breast.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the breast"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025829"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000771",
- "lbl": "Gynecomastia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000770"
- }
- ],
- "definition": {
- "val": "Abnormal development of large mammary glands in males resulting in breast enlargement.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged male breast",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gynaecomastia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006177"
- },
- {
- "val": "SNOMEDCT_US:4754008"
- },
- {
- "val": "UMLS:C0018418"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000772",
- "lbl": "Abnormal rib morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006618"
- }
- ],
- "definition": {
- "val": "An anomaly of the rib.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the ribs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rib abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rib anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842083"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000773",
- "lbl": "Short ribs",
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- "val": "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.",
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- "val": "The presence of a hernia of the diaphragm present at birth.",
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- "id": "http://purl.obolibrary.org/obo/HP_0000777",
- "lbl": "Abnormality of the thymus",
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- "type": "CLASS"
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- "type": "CLASS"
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- "val": "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000802",
- "lbl": "Impotence",
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- "definition": {
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- "lbl": "Renal cortical cysts",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000812",
- "lbl": "Abnormal internal genitalia",
- "meta": {
- "definition": {
- "val": "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal internal genitalia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000813",
- "lbl": "Bicornuate uterus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008735"
- }
- ],
- "comments": [
- "Uterus with two horn-shaped branches."
- ],
- "definition": {
- "val": "The presence of a bicornuate uterus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heart shaped uterus",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heart-shaped uterus",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Uterus bicornis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:31401003"
- },
- {
- "val": "UMLS:C0266387"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000815",
- "lbl": "Hypergonadotropic hypogonadism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008679"
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- ],
- "definition": {
- "val": "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypergonadotrophic hypogonadism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Primary hypogonadism"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007006"
- },
- {
- "val": "SNOMEDCT_US:370999003"
- },
- {
- "val": "UMLS:C0948896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000816",
- "lbl": "Abnormality of Krebs cycle metabolism",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-17T12:58:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the tricarboxylic acid cycle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the tricarboxylic cycle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of citric acid cycle",
- "xrefs": [
- "HPO:curators"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021795"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000817",
- "lbl": "Poor eye contact",
- "meta": {
- "comments": [
- "Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication."
- ],
- "definition": {
- "val": "Difficulty in looking at another person in the eye.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor eye contact"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:412786000"
- },
- {
- "val": "UMLS:C1445953"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000818",
- "lbl": "Abnormality of the endocrine system",
- "meta": {
- "comments": [
- "The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions."
- ],
- "definition": {
- "val": "An abnormality of the endocrine system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Endocrine system disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004700"
- },
- {
- "val": "SNOMEDCT_US:362969004"
- },
- {
- "val": "UMLS:C0014130"
- },
- {
- "val": "UMLS:C4025823"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000819",
- "lbl": "Diabetes mellitus",
- "meta": {
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- "val": "HP:0004908"
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- "val": "HP:0008217"
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- "val": "HP:0008234"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008260"
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- ],
- "definition": {
- "val": "A group of abnormalities characterized by hyperglycemia and glucose intolerance.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D003920"
- },
- {
- "val": "SNOMEDCT_US:73211009"
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- {
- "val": "UMLS:C0011849"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000820",
- "lbl": "Abnormality of the thyroid gland",
- "meta": {
- "definition": {
- "val": "An abnormality of the thyroid gland.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the thyroid gland"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thyroid abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thyroid disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013959"
- },
- {
- "val": "SNOMEDCT_US:14304000"
- },
- {
- "val": "UMLS:C0040128"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000821",
- "lbl": "Hypothyroidism",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008203"
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- ],
- "definition": {
- "val": "Deficiency of thyroid hormone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underactive thyroid",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Low T4"
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- ],
- "xrefs": [
- {
- "val": "MSH:D007037"
- },
- {
- "val": "SNOMEDCT_US:40930008"
- },
- {
- "val": "UMLS:C0020676"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000822",
- "lbl": "Hypertension",
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- "val": "HP:0005126"
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- ],
- "comments": [
- "Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both."
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- "definition": {
- "val": "The presence of chronic increased pressure in the systemic arterial system.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasRelatedSynonym",
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- "val": "High blood pressure",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Arterial hypertension"
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- {
- "pred": "hasExactSynonym",
- "val": "Systemic hypertension"
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- ],
- "xrefs": [
- {
- "val": "MSH:D006973"
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- {
- "val": "SNOMEDCT_US:24184005"
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- {
- "val": "SNOMEDCT_US:38341003"
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- {
- "val": "UMLS:C0020538"
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- {
- "val": "UMLS:C0497247"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000823",
- "lbl": "Delayed puberty",
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- "val": "HP:0010466"
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- "val": "HP:0010467"
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- "comments": [
- "The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy."
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- "definition": {
- "val": "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.",
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- "val": "Delayed pubertal growth"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pubertal delay",
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- "val": "MSH:D011628"
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- {
- "val": "SNOMEDCT_US:123526007"
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- "val": "SNOMEDCT_US:400003000"
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- "val": "UMLS:C0034012"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000824",
- "lbl": "Decreased response to growth hormone stimulation test",
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- "val": "HP:0008195"
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- "comments": [
- "GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults."
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- "definition": {
- "val": "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.",
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- "HPO:probinson",
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- {
- "pred": "hasExactSynonym",
- "val": "Somatotropin deficiency"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:2109003"
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- "val": "UMLS:C3714796"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000825",
- "lbl": "Hyperinsulinemic hypoglycemia",
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- "comments": [
- "Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar."
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- "definition": {
- "val": "An increased concentration of insulin combined with a decreased concentration of glucose in the blood.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperinsulinaemic hypoglycaemia"
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- {
- "pred": "hasExactSynonym",
- "val": "Hyperinsulinemia hypoglycemia"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1864903"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000826",
- "lbl": "Precocious puberty",
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- "definition": {
- "val": "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Early puberty"
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- "pred": "hasExactSynonym",
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- "val": "Early onset of puberty",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
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- "val": "MSH:D011629"
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- "val": "SNOMEDCT_US:123527003"
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- "val": "SNOMEDCT_US:400179000"
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- "val": "UMLS:C0034013"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000828",
- "lbl": "Abnormality of the parathyroid gland",
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- "comments": [
- "There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone."
- ],
- "definition": {
- "val": "An abnormality of the parathyroid gland.",
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- "HPO:curators"
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- },
- "synonyms": [
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- "pred": "hasRelatedSynonym",
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- ],
- "xrefs": [
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- "val": "MSH:D010279"
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- {
- "val": "SNOMEDCT_US:73132005"
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- {
- "val": "UMLS:C0030517"
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- {
- "val": "UMLS:C4025822"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000829",
- "lbl": "Hypoparathyroidism",
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- "definition": {
- "val": "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.",
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- "val": "SNOMEDCT_US:36976004"
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- "val": "UMLS:C0020626"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000830",
- "lbl": "Anterior hypopituitarism",
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- "definition": {
- "val": "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000831",
- "lbl": "Insulin-resistant diabetes mellitus",
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- "definition": {
- "val": "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.",
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- "HPO:probinson",
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "xrefs": [
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- "val": "UMLS:C0854110"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000832",
- "lbl": "Primary hypothyroidism",
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- "definition": {
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:111566002"
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- {
- "val": "UMLS:C0700502"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000833",
- "lbl": "obsolete Glucose intolerance",
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000834",
- "lbl": "Abnormality of the adrenal glands",
- "meta": {
- "definition": {
- "val": "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- {
- "pred": "hasRelatedSynonym",
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- "val": "MSH:D000307"
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- {
- "val": "SNOMEDCT_US:30171000"
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- "val": "UMLS:C0001621"
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- "val": "UMLS:C4021794"
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- "type": "CLASS"
- },
- {
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- "lbl": "Adrenal hypoplasia",
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- "definition": {
- "val": "Developmental hypoplasia of the adrenal glands.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small adrenal glands"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Adrenal gland hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic adrenal glands"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped adrenal glands"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538429"
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- {
- "val": "SNOMEDCT_US:237774001"
- },
- {
- "val": "UMLS:C0342491"
- },
- {
- "val": "UMLS:C1846223"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000836",
- "lbl": "Hyperthyroidism",
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- "val": "HP:0008241"
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- ],
- "definition": {
- "val": "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overactive thyroid",
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- "ORCID:0000-0001-5208-3432",
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006980"
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- "val": "SNOMEDCT_US:34486009"
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- {
- "val": "UMLS:C0020550"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000837",
- "lbl": "Increased circulating gonadotropin level",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0030340"
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- ],
- "definition": {
- "val": "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.",
- "xrefs": [
- "DDD:spark"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated gonadotropins"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated serum gonadotropins"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gonadotropin excess"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased circulating gonadotropin level"
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- ],
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- {
- "val": "UMLS:C1862265"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000839",
- "lbl": "Pituitary dwarfism",
- "meta": {
- "definition": {
- "val": "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.",
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- "HPO:probinson"
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- "xrefs": [
- {
- "val": "MSH:D004393"
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- {
- "val": "SNOMEDCT_US:367460001"
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- {
- "val": "SNOMEDCT_US:7530009"
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- {
- "val": "UMLS:C0013338"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000840",
- "lbl": "Adrenogenital syndrome",
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- "definition": {
- "val": "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.",
- "xrefs": [
- "HPO:probinson"
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- "val": "MSH:D047808"
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- "val": "SNOMEDCT_US:237751000"
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- "val": "SNOMEDCT_US:267395000"
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- "val": "SNOMEDCT_US:271077003"
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- {
- "val": "UMLS:C0302280"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000841",
- "lbl": "Hyperactive renin-angiotensin system",
- "meta": {
- "comments": [
- "If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume."
- ],
- "definition": {
- "val": "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased plasma renin activity",
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- "HPO:skoehler"
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- "xrefs": [
- {
- "val": "UMLS:C1846345"
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- {
- "val": "UMLS:C3150267"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000842",
- "lbl": "Hyperinsulinemia",
- "meta": {
- "definition": {
- "val": "An increased concentration of insulin in the blood.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated insulin level"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006946"
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- {
- "val": "SNOMEDCT_US:83469008"
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- {
- "val": "UMLS:C0020459"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000843",
- "lbl": "Hyperparathyroidism",
- "meta": {
- "definition": {
- "val": "Excessive production of parathyroid hormone (PTH) by the parathyroid glands.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated blood parathyroid hormone level",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006961"
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- "val": "SNOMEDCT_US:66999008"
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- {
- "val": "UMLS:C0020502"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000845",
- "lbl": "Elevated circulating growth hormone concentration",
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- "val": "HP:0008856"
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- ],
- "comments": [
- "Disorder resulting from excess pituitary gland production of growth hormone (hGH)."
- ],
- "definition": {
- "val": "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.",
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- "DDD:spark",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Growth hormone excess"
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- {
- "pred": "hasExactSynonym",
- "val": "Elevated circulating somatotropin concentration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Somatotropin excess"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C531600"
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- {
- "val": "MSH:D000172"
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- {
- "val": "SNOMEDCT_US:74107003"
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- {
- "val": "UMLS:C0001206"
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- {
- "val": "UMLS:C0235986"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000846",
- "lbl": "Adrenal insufficiency",
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- "comments": [
- "Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation."
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- "definition": {
- "val": "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.",
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- "HPO:probinson",
- "PMID:11443143"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoadrenalism"
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- "val": "MSH:D000309"
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- "val": "SNOMEDCT_US:111563005"
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- "val": "SNOMEDCT_US:237785004"
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- "val": "SNOMEDCT_US:386584007"
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- "val": "UMLS:C0001623"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000847",
- "lbl": "Abnormality of renin-angiotensin system",
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- "comments": [
- "The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance."
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- "definition": {
- "val": "An abnormality of the renin-angiotensin system.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the renin-aldosterone axis"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021793"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000848",
- "lbl": "Increased circulating renin level",
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- "definition": {
- "val": "An increased level of renin in the blood.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Elevated plasma renin"
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- "pred": "hasExactSynonym",
- "val": "Hyperreninemia"
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Increased serum renin"
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- "val": "UMLS:C0240783"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000849",
- "lbl": "Adrenocortical abnormality",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025820"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000851",
- "lbl": "Congenital hypothyroidism",
- "meta": {
- "definition": {
- "val": "A type of hypothyroidism with congenital onset.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underactive thyroid gland from birth",
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- "https://orcid.org/0000-0002-6548-5200"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypothyroidism, congenital"
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- "xrefs": [
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- "val": "MSH:D003409"
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- "val": "SNOMEDCT_US:190268003"
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- "val": "SNOMEDCT_US:217710005"
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- "val": "UMLS:C0010308"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000852",
- "lbl": "Pseudohypoparathyroidism",
- "meta": {
- "definition": {
- "val": "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "MSH:D011547"
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- "val": "SNOMEDCT_US:58976002"
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- "val": "UMLS:C0033806"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000853",
- "lbl": "Goiter",
- "meta": {
- "definition": {
- "val": "An enlargement of the thyroid gland.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Goitre"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Thyroid goitre"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged thyroid gland in neck",
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Thyroid goiter"
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- "xrefs": [
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- "val": "MSH:D006042"
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- "val": "SNOMEDCT_US:3716002"
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- "val": "UMLS:C0018021"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000854",
- "lbl": "Thyroid adenoma",
- "meta": {
- "definition": {
- "val": "The presence of a adenoma of the thyroid gland.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D013964"
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- {
- "val": "NCIT:C2855"
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- "val": "SNOMEDCT_US:255033000"
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- "val": "SNOMEDCT_US:255034006"
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- "val": "UMLS:C0151468"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000855",
- "lbl": "Insulin resistance",
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- "definition": {
- "val": "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.",
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- "HPO:probinson"
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- "val": "MSH:D007333"
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- "val": "SNOMEDCT_US:48606007"
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- "val": "UMLS:C0021655"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000857",
- "lbl": "Neonatal insulin-dependent diabetes mellitus",
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- "xrefs": [
- {
- "val": "UMLS:C3278636"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000858",
- "lbl": "Irregular menstruation",
- "meta": {
- "comments": [
- "Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles."
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- "definition": {
- "val": "Abnormally high variation in the amount of time between periods.",
- "xrefs": [
- "PMID:29323693"
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- },
- "synonyms": [
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- "val": "Menstrual irregularity"
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- "pred": "hasExactSynonym",
- "val": "Irregular periods"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000859",
- "lbl": "Hyperaldosteronism",
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- "val": "HP:0005975"
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- ],
- "definition": {
- "val": "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.",
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- "DDD:spark",
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- },
- "synonyms": [
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- "val": "Mineralocorticoid excess"
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- "val": "UMLS:C0020428"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000860",
- "lbl": "Parathyroid hypoplasia",
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- "definition": {
- "val": "Developmental hypoplasia of the parathyroid gland.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000863",
- "lbl": "Central diabetes insipidus",
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- "id": "http://purl.obolibrary.org/obo/HP_0000870",
- "lbl": "Increased circulating prolactin concentration",
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- "val": "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).",
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- "val": "SNOMEDCT_US:32390006"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0000872",
- "lbl": "Hashimoto thyroiditis",
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- "val": "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).",
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- "Normally, there are 12 pairs of ribs."
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- "val": "UMLS:C1848538"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000894",
- "lbl": "Short clavicles",
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- "val": "HP:0005698"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005902"
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- "definition": {
- "val": "Reduced length of the clavicles.",
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- "HPO:probinson"
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- "val": "Short collarbone",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
- "val": "Clavicular hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic clavicles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped clavicles"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:93250003"
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- "val": "UMLS:C0426799"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000895",
- "lbl": "Lateral clavicle hook",
- "meta": {
- "definition": {
- "val": "An excessive upward convexity of the lateral clavicle.",
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- "HPO:probinson",
- "PMID:7322653"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Hook-shaped collarbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Handlebar clavicle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hook-shaped clavicle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hooked clavicle"
- }
- ],
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- "val": "SNOMEDCT_US:249684000"
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- "val": "UMLS:C0426805"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000896",
- "lbl": "Rib exostoses",
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- "definition": {
- "val": "Multiple circumscribed bony excrescences located in the ribs.",
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- "HPO:probinson"
- ]
- },
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- {
- "val": "UMLS:C1835579"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000897",
- "lbl": "Rachitic rosary",
- "meta": {
- "comments": [
- "Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene."
- ],
- "definition": {
- "val": "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.",
- "xrefs": [
- "HPO:probinson",
- "PMID:26745253"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:15214001"
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- {
- "val": "SNOMEDCT_US:249702007"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000900",
- "lbl": "Thickened ribs",
- "meta": {
- "definition": {
- "val": "Increased thickness (diameter) of ribs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249699000"
- },
- {
- "val": "UMLS:C0426820"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000902",
- "lbl": "Rib fusion",
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- "val": "HP:0000880"
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- ],
- "definition": {
- "val": "Complete or partial merging of adjacent ribs.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused ribs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rib fusion"
- }
- ],
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- {
- "val": "UMLS:C1844749"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000904",
- "lbl": "Flaring of rib cage",
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- "val": "HP:0006656"
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- ],
- "definition": {
- "val": "The presence of wide, concave anterior rib ends.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flaring of rib cage"
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- {
- "pred": "hasExactSynonym",
- "val": "Anterior flaring of ribs"
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- ],
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- {
- "val": "UMLS:C1854780"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000905",
- "lbl": "Progressive clavicular acroosteolysis",
- "meta": {
- "definition": {
- "val": "Progressive bone resorption in the distal part of the clavicle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Progressive acroosteolysis of the clavicle"
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- ],
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- {
- "val": "UMLS:C1837757"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000907",
- "lbl": "Anterior rib cupping",
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- ],
- "definition": {
- "val": "Wide, concave anterior rib end.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior cupping of ribs"
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- {
- "pred": "hasExactSynonym",
- "val": "Anteriorly splayed ribs"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1846154"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000910",
- "lbl": "Wide-cupped costochondral junctions",
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- {
- "val": "UMLS:C1861213"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000911",
- "lbl": "Flat glenoid fossa",
- "meta": {
- "comments": [
- "See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa."
- ],
- "definition": {
- "val": "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
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- "HPO:probinson",
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- },
- "xrefs": [
- {
- "val": "UMLS:C1855177"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000912",
- "lbl": "Sprengel anomaly",
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- "val": "HP:0006621"
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- ],
- "comments": [
- "Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible."
- ],
- "definition": {
- "val": "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).",
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- "HPO:probinson"
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High shoulder blade",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital, upward displacement of the scapula"
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- {
- "pred": "hasExactSynonym",
- "val": "Sprengel deformity"
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- {
- "pred": "hasExactSynonym",
- "val": "High scapula",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/sprengel%27s_deformity"
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- }
- ],
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- "val": "MEDDRA:10010455"
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- {
- "val": "MSH:C535802"
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- "val": "SNOMEDCT_US:79120002"
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- "val": "UMLS:C0152438"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000913",
- "lbl": "Posterior rib fusion",
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- "definition": {
- "val": "Complete or partial merging of the posterior part of adjacent ribs.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1842084"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000914",
- "lbl": "Shield chest",
- "meta": {
- "comments": [
- "Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome."
- ],
- "definition": {
- "val": "A broad chest.",
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- "HPO:probinson",
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- "val": "Shield chest"
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- "val": "UMLS:C1834124"
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- {
- "val": "UMLS:C1839248"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000915",
- "lbl": "Pectus excavatum of inferior sternum",
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- "definition": {
- "val": "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pectus excavatum inferiorly"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1864796"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000916",
- "lbl": "Broad clavicles",
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- ],
- "definition": {
- "val": "Increased width (cross-sectional diameter) of the clavicles.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
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- "val": "Broad collarbone",
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- "ORCID:0000-0001-5208-3432"
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- "val": "SNOMEDCT_US:249680009"
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- {
- "val": "UMLS:C0426801"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000917",
- "lbl": "Superior pectus carinatum",
- "meta": {
- "definition": {
- "val": "Pectus carinatum affecting primarily the superior part of the sternum.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pectus carinatum superiorly"
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- ],
- "xrefs": [
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- "val": "UMLS:C1864795"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000918",
- "lbl": "Scapular exostoses",
- "meta": {
- "definition": {
- "val": "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Scapulae exostoses"
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- {
- "pred": "hasExactSynonym",
- "val": "Shoulder bone exostoes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1851415"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000919",
- "lbl": "Abnormality of the costochondral junction",
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- "comments": [
- "The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum."
- ],
- "definition": {
- "val": "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.",
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- "pred": "hasExactSynonym",
- "val": "Costochondral juctions abnormal"
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- ],
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- "val": "UMLS:C4021791"
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- "type": "CLASS"
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- "lbl": "Enlargement of the costochondral junction",
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- "definition": {
- "val": "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.",
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- "synonyms": [
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- {
- "pred": "hasExactSynonym",
- "val": "Enlarged costochondral junctions"
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- {
- "pred": "hasExactSynonym",
- "val": "Prominent costochondral junction"
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- {
- "pred": "hasExactSynonym",
- "val": "Wide costochondral junctions"
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- {
- "pred": "hasExactSynonym",
- "val": "Widened costochondral junction"
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- ],
- "xrefs": [
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- "val": "UMLS:C1857180"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000921",
- "lbl": "Missing ribs",
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- "val": "HP:0006627"
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- ],
- "definition": {
- "val": "A developmental anomaly with absence of one or more ribs.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent ribs"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased rib number"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing ribs"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:249695006"
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- "val": "UMLS:C0426816"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000922",
- "lbl": "Posterior rib cupping",
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- "definition": {
- "val": "Wide, concave posterior rib end.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior and posterior rib cupping"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837483"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000923",
- "lbl": "Beaded ribs",
- "meta": {
- "comments": [
- "Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children."
- ],
- "definition": {
- "val": "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "UMLS:C0426824"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000924",
- "lbl": "Abnormality of the skeletal system",
- "meta": {
- "definition": {
- "val": "An abnormality of the skeletal system.",
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- "HPO:probinson"
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- "val": "Skeletal anomalies"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000925",
- "lbl": "Abnormality of the vertebral column",
- "meta": {
- "definition": {
- "val": "Any abnormality of the vertebral column.",
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- "HPO:probinson"
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- },
- "subsets": [
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- "synonyms": [
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- "val": "Abnormal vertebral column"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the spine"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the vertebral column"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the backbone"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal spine",
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- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020882"
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- {
- "val": "UMLS:C4021789"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000926",
- "lbl": "Platyspondyly",
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- "val": "HP:0003421"
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- "val": "HP:0004595"
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- "val": "HP:0004623"
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- "val": "HP:0004627"
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- "val": "HP:0005123"
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- "val": "HP:0005644"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008466"
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- ],
- "definition": {
- "val": "A flattened vertebral body shape with reduced distance between the vertebral endplates.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Flattened vertebrae",
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- {
- "pred": "hasExactSynonym",
- "val": "Flat vertebral bodies"
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- {
- "pred": "hasExactSynonym",
- "val": "Flattened vertebral bodies"
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- "val": "UMLS:C1844704"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000927",
- "lbl": "Abnormality of skeletal maturation",
- "meta": {
- "definition": {
- "val": "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of skeletal maturation"
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- ],
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- {
- "val": "UMLS:C4025818"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000929",
- "lbl": "Abnormal skull morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the skull"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the skull bones",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0235942"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000930",
- "lbl": "Elevated imprint of the transverse sinuses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated imprint of occipital bone over the transverse sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated imprint of posterior skull bones over the transverse sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Thinning and bulging of occipital bone over the transverse sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thinning and bulging of posterior skull bones over the transverse sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025817"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000931",
- "lbl": "Thinning and bulging of the posterior fossa bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thinning and bulging of posterior fossa bones"
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- {
- "pred": "hasExactSynonym",
- "val": "Thinning and bulging of posterior skull bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Thinning and bulging of occipital bone of skull",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021788"
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- {
- "val": "UMLS:C4280608"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000932",
- "lbl": "Abnormal posterior cranial fossa morphology",
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- "val": "HP:0007306"
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- "comments": [
- "The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography."
- ],
- "definition": {
- "val": "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.",
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- "HPO:probinson",
- "PMID:25970099",
- "PMID:28295149"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the posterior cranial fossa"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the posterior fossa"
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- {
- "pred": "hasExactSynonym",
- "val": "Posterior fossa anomaly"
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- ],
- "xrefs": [
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- "val": "UMLS:C3280768"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000933",
- "lbl": "Posterior fossa cyst at the fourth ventricle",
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- "xrefs": [
- {
- "val": "UMLS:C4025816"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000934",
- "lbl": "Chondrocalcinosis",
- "meta": {
- "definition": {
- "val": "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .",
- "xrefs": [
- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Calcium deposits in joints",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D002805"
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- {
- "val": "SNOMEDCT_US:201637001"
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- {
- "val": "SNOMEDCT_US:239832006"
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- "val": "SNOMEDCT_US:239838005"
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- {
- "val": "UMLS:C0553730"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000935",
- "lbl": "Thickened cortex of long bones",
- "meta": {
- "definition": {
- "val": "Abnormal thickening of the cortex of long bones.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Broad cortex of long bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cortical thickening of the long bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thickened cortices of long bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840418"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000938",
- "lbl": "Osteopenia",
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- "val": "HP:0002799"
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- "val": "HP:0002800"
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- ],
- "definition": {
- "val": "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.",
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- "HPO:probinson",
- "PMID:21234807"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised osteopenia"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Osteopaenia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized osteopenia"
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- ],
- "xrefs": [
- {
- "val": "MSH:D001851"
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- {
- "val": "SNOMEDCT_US:312894000"
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- {
- "val": "SNOMEDCT_US:78441005"
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- {
- "val": "UMLS:C0029453"
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- {
- "val": "UMLS:C0747078"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000939",
- "lbl": "Osteoporosis",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002774"
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- ],
- "comments": [
- "Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures."
- ],
- "definition": {
- "val": "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).",
- "xrefs": [
- "HPO:probinson",
- "PMID:28293453"
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- },
- "xrefs": [
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- "val": "MSH:D010024"
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- {
- "val": "SNOMEDCT_US:64859006"
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- {
- "val": "UMLS:C0029456"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000940",
- "lbl": "Abnormal diaphysis morphology",
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- "val": "HP:0006504"
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- "definition": {
- "val": "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of shaft of long bone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of shaft of long bone of the limbs",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality involving the diaphyses of the limbs"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the diaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the limb diaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the limb diaphyses morphology"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021787"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000941",
- "lbl": "Short diaphyses",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025815"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000943",
- "lbl": "Dysostosis multiplex",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002760"
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- "xrefs": [
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- "val": "MSH:D008059"
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- {
- "val": "SNOMEDCT_US:254069004"
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- {
- "val": "SNOMEDCT_US:65327002"
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- {
- "val": "UMLS:C0086795"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0000944",
- "lbl": "Abnormal metaphysis morphology",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006506"
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- ],
- "definition": {
- "val": "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the wide portion of a long bone",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
- {
- "val": "UMLS:C4025814"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000946",
- "lbl": "Hypoplastic ilia",
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- "val": "HP:0003176"
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- "val": "HP:0003178"
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- ],
- "definition": {
- "val": "Underdevelopment of the ilium.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small wings of the pelvic girdle",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Short and small iliac bones"
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- {
- "pred": "hasExactSynonym",
- "val": "Small iliac bones"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1861218"
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- {
- "val": "UMLS:C4280607"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000947",
- "lbl": "Dumbbell-shaped long bone",
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- "val": "HP:0005061"
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- "val": "HP:0005071"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005075"
- }
- ],
- "definition": {
- "val": "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dumbbell-shaped long bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dumbbell widening of long bone metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2749582"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000951",
- "lbl": "Abnormality of the skin",
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- "val": "HP:0001478"
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- "val": "HP:0001479"
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- "val": "HP:0005591"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006736"
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- "val": "HP:0007415"
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- "val": "HP:0007580"
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- ],
- "definition": {
- "val": "An abnormality of the skin.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the skin"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Skin abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermatopathy",
- "xrefs": [
- "HPO:skoehler"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermopathy",
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- "HPO:skoehler"
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- "xrefs": [
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- {
- "val": "MSH:D012871"
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- {
- "val": "SNOMEDCT_US:199879009"
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- "val": "SNOMEDCT_US:95320005"
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- {
- "val": "UMLS:C0037268"
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- {
- "val": "UMLS:C0037274"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000952",
- "lbl": "Jaundice",
- "meta": {
- "definition": {
- "val": "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Jaundice"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Yellow skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Yellowing of the skin",
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- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Icterus",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007565"
- },
- {
- "val": "SNOMEDCT_US:18165001"
- },
- {
- "val": "UMLS:C0022346"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000953",
- "lbl": "Hyperpigmentation of the skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007527"
- }
- ],
- "definition": {
- "val": "A darkening of the skin related to an increase in melanin production and deposition.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy darkened skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous hyperpigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased skin pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skin hyperpigmentation"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Melanoderma"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Melanodermia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperpigmented lesion",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017495"
- },
- {
- "val": "SNOMEDCT_US:4830009"
- },
- {
- "val": "SNOMEDCT_US:49765009"
- },
- {
- "val": "UMLS:C0162834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000954",
- "lbl": "Single transverse palmar crease",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006214"
- }
- ],
- "comments": [
- "The presence of a single palmar crease (instead of the two palmar creases that are typically present)."
- ],
- "definition": {
- "val": "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Simian crease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Simian creases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single flexion crease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single palmar crease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single palmar creases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single transverse palmar creases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transverse palmar crease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Simian line",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248409006"
- },
- {
- "val": "UMLS:C0424731"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000956",
- "lbl": "Acanthosis nigricans",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007498"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007518"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007591"
- }
- ],
- "comments": [
- "Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia."
- ],
- "definition": {
- "val": "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.",
- "xrefs": [
- "DDD:cmoss",
- "PMID:19061584"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Darkened and thickened skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Keratosis nigricans",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000052"
- },
- {
- "val": "SNOMEDCT_US:402599005"
- },
- {
- "val": "SNOMEDCT_US:72129000"
- },
- {
- "val": "UMLS:C0000889"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000957",
- "lbl": "Cafe-au-lait spot",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005601"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007454"
- }
- ],
- "comments": [
- "The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia."
- ],
- "definition": {
- "val": "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat light-brown mark on skin"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Birthmark",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cafe au lait spots"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cafe-au-lait macules"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cafe-au-lait macule",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cafe-au-lait spots",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D019080"
- },
- {
- "val": "SNOMEDCT_US:201281002"
- },
- {
- "val": "SNOMEDCT_US:51089004"
- },
- {
- "val": "UMLS:C0221263"
- },
- {
- "val": "UMLS:C0265974"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000958",
- "lbl": "Dry skin",
- "meta": {
- "definition": {
- "val": "Skin characterized by the lack of natural or normal moisture.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dry skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Xerosis"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10048222"
- },
- {
- "val": "SNOMEDCT_US:16386004"
- },
- {
- "val": "UMLS:C0151908"
- },
- {
- "val": "UMLS:C0259817"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000960",
- "lbl": "Sacral dimple",
- "meta": {
- "definition": {
- "val": "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.",
- "xrefs": [
- "HPO:probinson",
- "PMID:28245993"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spinal dimple",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/sacral_dimple"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pilonidal dimple"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249729002"
- },
- {
- "val": "SNOMEDCT_US:311897005"
- },
- {
- "val": "UMLS:C0426848"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000961",
- "lbl": "Cyanosis",
- "meta": {
- "definition": {
- "val": "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.",
- "xrefs": [
- "PMID:25658213"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blue discoloration of the skin",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003490"
- },
- {
- "val": "SNOMEDCT_US:119419001"
- },
- {
- "val": "SNOMEDCT_US:3415004"
- },
- {
- "val": "UMLS:C0010520"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000962",
- "lbl": "Hyperkeratosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007523"
- }
- ],
- "definition": {
- "val": "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10020649"
- },
- {
- "val": "SNOMEDCT_US:26996000"
- },
- {
- "val": "SNOMEDCT_US:396228006"
- },
- {
- "val": "SNOMEDCT_US:399955009"
- },
- {
- "val": "UMLS:C0870082"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000963",
- "lbl": "Thin skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001020"
- }
- ],
- "definition": {
- "val": "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin skin"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:277797007"
- },
- {
- "val": "UMLS:C0423757"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000964",
- "lbl": "Eczema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001481"
- }
- ],
- "comments": [
- "Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis."
- ],
- "definition": {
- "val": "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Eczema"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004485"
- },
- {
- "val": "SNOMEDCT_US:281104002"
- },
- {
- "val": "SNOMEDCT_US:43116000"
- },
- {
- "val": "UMLS:C0013595"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000965",
- "lbl": "Cutis marmorata",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001037"
- }
- ],
- "definition": {
- "val": "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C0263401"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000966",
- "lbl": "Hypohidrosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007551"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007571"
- }
- ],
- "definition": {
- "val": "Abnormally diminished capacity to sweat.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased ability to sweat"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased sweating"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweating, decreased"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oligohidrosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Inadequate sweating",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10021013"
- },
- {
- "val": "MSH:D007007"
- },
- {
- "val": "SNOMEDCT_US:45004005"
- },
- {
- "val": "UMLS:C0020620"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000967",
- "lbl": "Petechiae",
- "meta": {
- "definition": {
- "val": "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.",
- "xrefs": [
- "HPO:probinson",
- "PMID:29493956"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10034754"
- },
- {
- "val": "MSH:D011693"
- },
- {
- "val": "SNOMEDCT_US:271813007"
- },
- {
- "val": "SNOMEDCT_US:50091001"
- },
- {
- "val": "UMLS:C0031256"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000968",
- "lbl": "Ectodermal dysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007615"
- }
- ],
- "comments": [
- "This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future."
- ],
- "definition": {
- "val": "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004476"
- },
- {
- "val": "SNOMEDCT_US:254154003"
- },
- {
- "val": "SNOMEDCT_US:8654005"
- },
- {
- "val": "UMLS:C0013575"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000969",
- "lbl": "Edema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000990"
- }
- ],
- "comments": [
- "Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability."
- ],
- "definition": {
- "val": "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fluid retention"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Water retention"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hydrops"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oedema"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dropsy",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004487"
- },
- {
- "val": "SNOMEDCT_US:20741006"
- },
- {
- "val": "SNOMEDCT_US:267038008"
- },
- {
- "val": "SNOMEDCT_US:423666004"
- },
- {
- "val": "SNOMEDCT_US:79654002"
- },
- {
- "val": "UMLS:C0013604"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000970",
- "lbl": "Anhidrosis",
- "meta": {
- "definition": {
- "val": "Inability to sweat.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of sweating",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://www.medicalnewstoday.com/articles/266427.php"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweating dysfunction",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://www.medicalnewstoday.com/articles/266427.php"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anhydrosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sudomotor dysfunction",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://www.medicalnewstoday.com/articles/266427.php"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10002512"
- },
- {
- "val": "MSH:D007007"
- },
- {
- "val": "SNOMEDCT_US:14662005"
- },
- {
- "val": "SNOMEDCT_US:39659002"
- },
- {
- "val": "UMLS:C0003028"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000971",
- "lbl": "Abnormal sweat gland morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the sweat gland.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the sweat gland"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweat gland disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of sweating",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013543"
- },
- {
- "val": "SNOMEDCT_US:88232005"
- },
- {
- "val": "UMLS:C0038986"
- },
- {
- "val": "UMLS:C0262643"
- },
- {
- "val": "UMLS:C4020881"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000972",
- "lbl": "Palmoplantar hyperkeratosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007548"
- }
- ],
- "comments": [
- "The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature."
- ],
- "definition": {
- "val": "Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickening of the outer layer of the skin of the palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis of palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis of the palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palmoplantar keratoses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palmoplantar keratosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thick palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thickened palms and soles"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007645"
- },
- {
- "val": "SNOMEDCT_US:706885006"
- },
- {
- "val": "UMLS:C0022596"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000973",
- "lbl": "Cutis laxa",
- "meta": {
- "definition": {
- "val": "Wrinkled, redundant, inelastic and sagging skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised elastolysis"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hanging skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loose and inelastic skin",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous laxity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elastolysis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoelastic skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lax skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loose skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skin laxity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chalazoderma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/cutis_laxa"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermatochalasia",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/cutis_laxa"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermatomegaly",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/cutis_laxa"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized elastolysis",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/cutis_laxa"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Inelastic skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C531660"
- },
- {
- "val": "MSH:D003483"
- },
- {
- "val": "SNOMEDCT_US:58588007"
- },
- {
- "val": "UMLS:C0010495"
- },
- {
- "val": "UMLS:C2930812"
- },
- {
- "val": "UMLS:C4280606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000974",
- "lbl": "Hyperextensible skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007389"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007493"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007578"
- }
- ],
- "comments": [
- "Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds."
- ],
- "definition": {
- "val": "A condition in which the skin can be stretched beyond normal, and then returns to its initial position.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperelastic skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin hyperelasticity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stretchable skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skin hyperextensibility"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0241074"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000975",
- "lbl": "Hyperhidrosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001011"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001064"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007424"
- }
- ],
- "comments": [
- "The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather."
- ],
- "definition": {
- "val": "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased sweating"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Profuse sweating"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweating"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweating profusely"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sweating, increased"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive sweating",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diaphoresis"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10020642"
- },
- {
- "val": "MSH:D006945"
- },
- {
- "val": "MSH:D013546"
- },
- {
- "val": "SNOMEDCT_US:161857006"
- },
- {
- "val": "SNOMEDCT_US:312230002"
- },
- {
- "val": "SNOMEDCT_US:364538006"
- },
- {
- "val": "SNOMEDCT_US:415690000"
- },
- {
- "val": "SNOMEDCT_US:415691001"
- },
- {
- "val": "SNOMEDCT_US:52613005"
- },
- {
- "val": "UMLS:C0020458"
- },
- {
- "val": "UMLS:C0038990"
- },
- {
- "val": "UMLS:C0700590"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000976",
- "lbl": "Eczematoid dermatitis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D004485"
- },
- {
- "val": "SNOMEDCT_US:281104002"
- },
- {
- "val": "SNOMEDCT_US:43116000"
- },
- {
- "val": "UMLS:C0013595"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000977",
- "lbl": "Soft skin",
- "meta": {
- "definition": {
- "val": "Subjective impression of increased softness upon palpation of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Soft skin"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Velvety skin"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Velvety skin texture",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0241178"
- },
- {
- "val": "UMLS:C1844592"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000978",
- "lbl": "Bruising susceptibility",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000959"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007433"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007472"
- }
- ],
- "comments": [
- "An ecchymosis is defined as being larger than 1 cm in size."
- ],
- "definition": {
- "val": "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bruising susceptibility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Easy bruisability"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Easy bruising"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bruise easily",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bruisability"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004438"
- },
- {
- "val": "SNOMEDCT_US:302227002"
- },
- {
- "val": "SNOMEDCT_US:424131007"
- },
- {
- "val": "SNOMEDCT_US:425075004"
- },
- {
- "val": "SNOMEDCT_US:77643000"
- },
- {
- "val": "UMLS:C0013491"
- },
- {
- "val": "UMLS:C0423798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000979",
- "lbl": "Purpura",
- "meta": {
- "comments": [
- "Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm)."
- ],
- "definition": {
- "val": "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11515831"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blood spots",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Red or purple spots on the skin",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011693"
- },
- {
- "val": "SNOMEDCT_US:12393003"
- },
- {
- "val": "SNOMEDCT_US:387778001"
- },
- {
- "val": "SNOMEDCT_US:423902002"
- },
- {
- "val": "UMLS:C0034150"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000980",
- "lbl": "Pallor",
- "meta": {
- "definition": {
- "val": "Abnormally pale skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Paleness"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin paleness",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010167"
- },
- {
- "val": "SNOMEDCT_US:398979000"
- },
- {
- "val": "UMLS:C0030232"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000982",
- "lbl": "Palmoplantar keratoderma",
- "meta": {
- "definition": {
- "val": "Abnormal thickening of the skin of the palms of the hands and the soles of the feet.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickening of palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palmar and plantar keratoderma"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007645"
- },
- {
- "val": "SNOMEDCT_US:706885006"
- },
- {
- "val": "UMLS:C0022596"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000987",
- "lbl": "Atypical scarring of skin",
- "meta": {
- "definition": {
- "val": "Atypically scarred skin .",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Atypical scarring"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Atypical scarring of skin"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000988",
- "lbl": "Skin rash",
- "meta": {
- "definition": {
- "val": "A red eruption of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rash"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin rash"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10037844"
- },
- {
- "val": "MSH:D005076"
- },
- {
- "val": "SNOMEDCT_US:112625008"
- },
- {
- "val": "SNOMEDCT_US:271807003"
- },
- {
- "val": "UMLS:C0015230"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000989",
- "lbl": "Pruritus",
- "meta": {
- "definition": {
- "val": "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Itching"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin itching"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Itchy skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011537"
- },
- {
- "val": "SNOMEDCT_US:279333002"
- },
- {
- "val": "SNOMEDCT_US:418290006"
- },
- {
- "val": "SNOMEDCT_US:418363000"
- },
- {
- "val": "SNOMEDCT_US:424492005"
- },
- {
- "val": "UMLS:C0033774"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000991",
- "lbl": "Xanthomatosis",
- "meta": {
- "definition": {
- "val": "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Yellow bumps of fatty deposits on skin",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Xanthomata"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014973"
- },
- {
- "val": "SNOMEDCT_US:63103006"
- },
- {
- "val": "UMLS:C0043325"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000992",
- "lbl": "Cutaneous photosensitivity",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005594"
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- "val": "HP:0006831"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007538"
- }
- ],
- "definition": {
- "val": "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Photosensitive skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Photosensitive skin rashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Photosensitivity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sensitivity to sunlight"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin photosensitivity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sun sensitivity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010787"
- },
- {
- "val": "SNOMEDCT_US:90128006"
- },
- {
- "val": "UMLS:C0349506"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000993",
- "lbl": "Molluscoid pseudotumors",
- "meta": {
- "definition": {
- "val": "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Molluscoid pseudotumor"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844597"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000995",
- "lbl": "Melanocytic nevus",
- "meta": {
- "comments": [
- "Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime."
- ],
- "definition": {
- "val": "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Noncancerous mole",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Beauty mark",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Melanocytic naevus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Melanocytic nevi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nevocellular nevi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pigmented naevi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pigmented nevi"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009508"
- },
- {
- "val": "SNOMEDCT_US:21119008"
- },
- {
- "val": "SNOMEDCT_US:400096001"
- },
- {
- "val": "UMLS:C0027962"
- },
- {
- "val": "UMLS:C4280269"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000996",
- "lbl": "Facial capillary hemangioma",
- "meta": {
- "definition": {
- "val": "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face."
- },
- "xrefs": [
- {
- "val": "UMLS:C1858545"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000997",
- "lbl": "Axillary freckling",
- "meta": {
- "definition": {
- "val": "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.",
- "xrefs": [
- "PMID:12186179"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860335"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000998",
- "lbl": "Hypertrichosis",
- "meta": {
- "definition": {
- "val": "Hypertrichosis is increased hair growth that is abnormal in quantity or location.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive hair growth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased hair growth on body",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006983"
- },
- {
- "val": "SNOMEDCT_US:271607001"
- },
- {
- "val": "SNOMEDCT_US:29966009"
- },
- {
- "val": "UMLS:C0020555"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0000999",
- "lbl": "Pyoderma",
- "meta": {
- "comments": [
- "Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions."
- ],
- "definition": {
- "val": "Any manifestation of a skin disease associated with the production of pus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pus-filled lesion",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011711"
- },
- {
- "val": "SNOMEDCT_US:70759006"
- },
- {
- "val": "UMLS:C0034212"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001000",
- "lbl": "Abnormality of skin pigmentation",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007582"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200045"
- }
- ],
- "definition": {
- "val": "An abnormality of the pigmentation of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of skin pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentary changes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentary skin changes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentation anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal skin colour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal skin color",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal skin pigmentation",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1260926"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001001",
- "lbl": "Abnormality of subcutaneous fat tissue",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of fatty tissue below the skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025813"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001002",
- "lbl": "obsolete Decreased subcutaneous fat",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0003758"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001003",
- "lbl": "Multiple lentigines",
- "meta": {
- "comments": [
- "Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands."
- ],
- "definition": {
- "val": "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Liver spots",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:72100002"
- },
- {
- "val": "UMLS:C0036651"
- },
- {
- "val": "UMLS:C1328931"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001004",
- "lbl": "Lymphedema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003605"
- }
- ],
- "definition": {
- "val": "Localized fluid retention and tissue swelling caused by a compromised lymphatic system.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Swelling caused by excess lymph fluid under skin",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lymphoedema"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset of lymphedema around puberty"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lymphatic obstruction",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008209"
- },
- {
- "val": "SNOMEDCT_US:234097001"
- },
- {
- "val": "SNOMEDCT_US:30213001"
- },
- {
- "val": "UMLS:C0024236"
- },
- {
- "val": "UMLS:C0240278"
- },
- {
- "val": "UMLS:C1835229"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001005",
- "lbl": "Dermatological manifestations of systemic disorders",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025812"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001006",
- "lbl": "obsolete Hypotrichosis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0008070"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001007",
- "lbl": "Hirsutism",
- "meta": {
- "definition": {
- "val": "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive hairiness",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006628"
- },
- {
- "val": "SNOMEDCT_US:399939002"
- },
- {
- "val": "UMLS:C0019572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001008",
- "lbl": "Accumulation of melanosomes in melanocytes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843389"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001009",
- "lbl": "Telangiectasia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001079"
- }
- ],
- "definition": {
- "val": "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous telangiectasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectases"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013684"
- },
- {
- "val": "SNOMEDCT_US:112641009"
- },
- {
- "val": "SNOMEDCT_US:247479008"
- },
- {
- "val": "UMLS:C0039446"
- },
- {
- "val": "UMLS:C1138421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001010",
- "lbl": "Hypopigmentation of the skin",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005589"
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- "val": "HP:0007604"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007622"
- }
- ],
- "definition": {
- "val": "A reduction of skin color related to a decrease in melanin production and deposition.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy lightened skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypopigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypopigmented skin"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Skin hypopigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017496"
- },
- {
- "val": "SNOMEDCT_US:18655006"
- },
- {
- "val": "SNOMEDCT_US:201284005"
- },
- {
- "val": "SNOMEDCT_US:23006000"
- },
- {
- "val": "SNOMEDCT_US:89031001"
- },
- {
- "val": "UMLS:C0162835"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001011",
- "lbl": "obsolete Diaphoresis (with pheochromocytoma)",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000975"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001012",
- "lbl": "Multiple lipomas",
- "meta": {
- "comments": [
- "A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children."
- ],
- "definition": {
- "val": "The presence of multiple lipomas (a type of benign tissue made of fatty tissue).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple fatty lumps",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Lipomas"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Lipomatosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008067"
- },
- {
- "val": "NCIT:C3192"
- },
- {
- "val": "SNOMEDCT_US:404062002"
- },
- {
- "val": "SNOMEDCT_US:46720004"
- },
- {
- "val": "SNOMEDCT_US:93163002"
- },
- {
- "val": "UMLS:C0023798"
- },
- {
- "val": "UMLS:C0745730"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001013",
- "lbl": "Eruptive xanthomas",
- "meta": {
- "comments": [
- "Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia."
- ],
- "definition": {
- "val": "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.",
- "xrefs": [
- "PMID:12165227",
- "PMID:22375975"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:238952003"
- },
- {
- "val": "UMLS:C0221252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001014",
- "lbl": "Angiokeratoma",
- "meta": {
- "comments": [
- "Angiokeratomas occur clinically as 1 of 5 different subtypes."
- ],
- "definition": {
- "val": "Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8993949"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Angiokeratomas"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000794"
- },
- {
- "val": "SNOMEDCT_US:26810009"
- },
- {
- "val": "UMLS:C0002985"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001015",
- "lbl": "Prominent superficial veins",
- "meta": {
- "comments": [
- "See Figure 4 of PMID:24456199"
- ],
- "definition": {
- "val": "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent veins",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Marked subcutaneous veins"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837785"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001017",
- "lbl": "Anemic pallor",
- "meta": {
- "definition": {
- "val": "A type of pallor that is secondary to the presence of anemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Anaemic pallor"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025811"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001018",
- "lbl": "Abnormal palmar dermatoglyphics",
- "meta": {
- "definition": {
- "val": "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025810"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001019",
- "lbl": "Erythroderma",
- "meta": {
- "definition": {
- "val": "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised erythroderma"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised erythrodermia"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Red scaly skin caused by inflammatory skin disease",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized erythroderma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized erythrodermia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Exfoliative dermititis",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003873"
- },
- {
- "val": "SNOMEDCT_US:200948000"
- },
- {
- "val": "SNOMEDCT_US:396349005"
- },
- {
- "val": "SNOMEDCT_US:396350005"
- },
- {
- "val": "SNOMEDCT_US:399992009"
- },
- {
- "val": "SNOMEDCT_US:400005007"
- },
- {
- "val": "UMLS:C0011606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001022",
- "lbl": "Albinism",
- "meta": {
- "definition": {
- "val": "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Albinism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Achromasia",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000417"
- },
- {
- "val": "SNOMEDCT_US:15890002"
- },
- {
- "val": "SNOMEDCT_US:18064000"
- },
- {
- "val": "UMLS:C0001916"
- },
- {
- "val": "UMLS:C0333913"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001024",
- "lbl": "Skin dimple over apex of long bone angulation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1855815"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001025",
- "lbl": "Urticaria",
- "meta": {
- "definition": {
- "val": "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hives"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10046735"
- },
- {
- "val": "MSH:D014581"
- },
- {
- "val": "SNOMEDCT_US:126485001"
- },
- {
- "val": "SNOMEDCT_US:247472004"
- },
- {
- "val": "SNOMEDCT_US:64305001"
- },
- {
- "val": "UMLS:C0042109"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001026",
- "lbl": "Penetrating foot ulcers",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Penetrating foot ulcers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025809"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001027",
- "lbl": "Soft, doughy skin",
- "meta": {
- "definition": {
- "val": "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Soft, doughy skin"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849043"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001028",
- "lbl": "Hemangioma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007444"
- }
- ],
- "definition": {
- "val": "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Strawberry mark",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hemangiomata"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006391"
- },
- {
- "val": "NCIT:C3085"
- },
- {
- "val": "SNOMEDCT_US:2099007"
- },
- {
- "val": "SNOMEDCT_US:253053003"
- },
- {
- "val": "SNOMEDCT_US:400210000"
- },
- {
- "val": "UMLS:C0018916"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001029",
- "lbl": "Poikiloderma",
- "meta": {
- "comments": [
- "Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes."
- ],
- "definition": {
- "val": "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10057041"
- },
- {
- "val": "SNOMEDCT_US:402685001"
- },
- {
- "val": "SNOMEDCT_US:70114006"
- },
- {
- "val": "UMLS:C0392777"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001030",
- "lbl": "Fragile skin",
- "meta": {
- "definition": {
- "val": "Skin that splits easily with minimal injury.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fragile skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin fragility"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10040851"
- },
- {
- "val": "SNOMEDCT_US:247427007"
- },
- {
- "val": "UMLS:C0241181"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001031",
- "lbl": "Subcutaneous lipoma",
- "meta": {
- "definition": {
- "val": "The presence of subcutaneous lipoma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "NCIT:C3192"
- },
- {
- "val": "UMLS:C1403035"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001032",
- "lbl": "Absent distal interphalangeal creases",
- "meta": {
- "definition": {
- "val": "Absence of the distal interphalangeal flexion creases of the fingers.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence of skin creases over distal interphalangeal joints"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplasia of the distal interphalangeal creases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal finger flexion creases absent"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861349"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001033",
- "lbl": "Facial flushing after alcohol intake",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial flushing after alcohol intake"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025808"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001034",
- "lbl": "Hypermelanotic macule",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007442"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007491"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007492"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100815"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200031"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200033"
- }
- ],
- "definition": {
- "val": "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.",
- "xrefs": [
- "DDD:cmoss"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperpigmented spots"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperpigmented skin patches"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperpigmented macules"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842774"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001036",
- "lbl": "Parakeratosis",
- "meta": {
- "comments": [
- "Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis."
- ],
- "definition": {
- "val": "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D010241"
- },
- {
- "val": "SNOMEDCT_US:200766001"
- },
- {
- "val": "SNOMEDCT_US:65068000"
- },
- {
- "val": "UMLS:C0030436"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001038",
- "lbl": "Warfarin-induced skin necrosis",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867638"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001039",
- "lbl": "Atheroeruptive xanthoma",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001040",
- "lbl": "Multiple pterygia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1867448"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001041",
- "lbl": "Facial erythema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001068"
- }
- ],
- "definition": {
- "val": "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blushed cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Red face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Red in the face"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ruddy face"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blushing",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rosacea",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001821"
- },
- {
- "val": "MSH:D012393"
- },
- {
- "val": "SNOMEDCT_US:20255002"
- },
- {
- "val": "SNOMEDCT_US:271811009"
- },
- {
- "val": "SNOMEDCT_US:398909004"
- },
- {
- "val": "UMLS:C0005874"
- },
- {
- "val": "UMLS:C0035854"
- },
- {
- "val": "UMLS:C0239488"
- },
- {
- "val": "UMLS:C4020880"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001042",
- "lbl": "High axial triradius",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025806"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001043",
- "lbl": "Prominent scalp veins",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent scalp veins"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856542"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001045",
- "lbl": "Vitiligo",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Blotchy loss of skin colour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blotchy loss of skin color",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014820"
- },
- {
- "val": "SNOMEDCT_US:56727007"
- },
- {
- "val": "UMLS:C0042900"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001046",
- "lbl": "Intermittent jaundice",
- "meta": {
- "definition": {
- "val": "Jaundice that is sometimes present, sometimes not.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent yellow skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent yellowing of skin",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intermittent icterus",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025805"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001047",
- "lbl": "Atopic dermatitis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007533"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007564"
- }
- ],
- "comments": [
- "In infants, atopic dermatitis is known as infantile eczema."
- ],
- "definition": {
- "val": "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.",
- "xrefs": [
- "HPO:probinson",
- "PMID:27904186"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Baby eczema",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atopic dermatitis, chronic"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermatitis, Atopic"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003876"
- },
- {
- "val": "SNOMEDCT_US:200775004"
- },
- {
- "val": "SNOMEDCT_US:24079001"
- },
- {
- "val": "UMLS:C0011615"
- },
- {
- "val": "UMLS:C4280605"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001048",
- "lbl": "Cavernous hemangioma",
- "meta": {
- "definition": {
- "val": "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Collection of dilated blood vessels that forms mass",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cavernous haemangioma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cavernous angioma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10055899"
- },
- {
- "val": "MSH:D006392"
- },
- {
- "val": "NCIT:C3086"
- },
- {
- "val": "SNOMEDCT_US:33377007"
- },
- {
- "val": "SNOMEDCT_US:416824008"
- },
- {
- "val": "SNOMEDCT_US:56975005"
- },
- {
- "val": "UMLS:C0018920"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001049",
- "lbl": "Absent dorsal skin creases over affected joints",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861400"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001050",
- "lbl": "Plethora",
- "meta": {
- "comments": [
- "Related to polycythemia."
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:75246004"
- },
- {
- "val": "UMLS:C0232370"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001051",
- "lbl": "Seborrheic dermatitis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007562"
- }
- ],
- "comments": [
- "Dandruff."
- ],
- "definition": {
- "val": "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Seborrhea"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Seborrheic eczema"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dysseborrheic dermatitis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012628"
- },
- {
- "val": "SNOMEDCT_US:50563003"
- },
- {
- "val": "SNOMEDCT_US:86708008"
- },
- {
- "val": "UMLS:C0036508"
- },
- {
- "val": "UMLS:C3806554"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001052",
- "lbl": "Nevus flammeus",
- "meta": {
- "comments": [
- "Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions."
- ],
- "definition": {
- "val": "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:22483320"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "port-wine stain",
- "xrefs": [
- "HPO:SKOEHLER"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nevus simplex",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10067193"
- },
- {
- "val": "MSH:D019339"
- },
- {
- "val": "SNOMEDCT_US:254211001"
- },
- {
- "val": "SNOMEDCT_US:416377005"
- },
- {
- "val": "UMLS:C0235752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001053",
- "lbl": "Hypopigmented skin patches",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Patchy loss of skin colour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy loss of skin color",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836735"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001054",
- "lbl": "Numerous nevi",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Numerous moles",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple pigmented nevi"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849677"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001055",
- "lbl": "Erysipelas",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "St. Anthony's Fire"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10015145"
- },
- {
- "val": "MSH:D004881"
- },
- {
- "val": "MSH:D004886"
- },
- {
- "val": "SNOMEDCT_US:44653001"
- },
- {
- "val": "SNOMEDCT_US:51510002"
- },
- {
- "val": "UMLS:C0014714"
- },
- {
- "val": "UMLS:C0014733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001056",
- "lbl": "Milia",
- "meta": {
- "comments": [
- "Milia are a normal finding in newborn babies (40-50%), often occurring around the nose."
- ],
- "definition": {
- "val": "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Milk spot",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Millium cyst",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:254679001"
- },
- {
- "val": "SNOMEDCT_US:254683001"
- },
- {
- "val": "SNOMEDCT_US:37719003"
- },
- {
- "val": "UMLS:C0345996"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001057",
- "lbl": "Aplasia cutis congenita",
- "meta": {
- "definition": {
- "val": "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of part of skin at birth",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Congenital scars",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/aplasia_cutis_congenita"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital absence of skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/aplasia_cutis_congenita"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutis aplasia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/aplasia_cutis_congenita"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10002963"
- },
- {
- "val": "MSH:D004476"
- },
- {
- "val": "SNOMEDCT_US:254237003"
- },
- {
- "val": "SNOMEDCT_US:35484002"
- },
- {
- "val": "SNOMEDCT_US:74223008"
- },
- {
- "val": "UMLS:C0265989"
- },
- {
- "val": "UMLS:C0282160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001058",
- "lbl": "Poor wound healing",
- "meta": {
- "definition": {
- "val": "A reduced ability to heal cutaneous wounds.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor wound healing"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851789"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001059",
- "lbl": "Pterygium",
- "meta": {
- "definition": {
- "val": "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Pterygia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011625"
- },
- {
- "val": "SNOMEDCT_US:77489003"
- },
- {
- "val": "UMLS:C0033999"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001060",
- "lbl": "Axillary pterygium",
- "meta": {
- "definition": {
- "val": "Presence of a cutaneous membrane (flap) in the armpit."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Axillary pterygia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001061",
- "lbl": "Acne",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005596"
- }
- ],
- "comments": [
- "Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule."
- ],
- "definition": {
- "val": "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breaking out"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acne"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10000496"
- },
- {
- "val": "SNOMEDCT_US:11381005"
- },
- {
- "val": "UMLS:C0702166"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001062",
- "lbl": "Atypical nevus",
- "meta": {
- "comments": [
- "Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance."
- ],
- "definition": {
- "val": "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Atypical mole",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dysplastic Nevus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004416"
- },
- {
- "val": "SNOMEDCT_US:254818000"
- },
- {
- "val": "SNOMEDCT_US:61814002"
- },
- {
- "val": "UMLS:C0205748"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001063",
- "lbl": "Acrocyanosis",
- "meta": {
- "comments": [
- "Cyanosis is caused by increased levels of deoxygenated hemoglobin."
- ],
- "definition": {
- "val": "Bluish discoloration of the skin of the hands or feet.",
- "xrefs": [
- "PMID:32644593"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Persistent blue colour of hands or feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Persistent blue color of hands or feet",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:25003006"
- },
- {
- "val": "UMLS:C0221347"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001065",
- "lbl": "Striae distensae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001023"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001066"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100680"
- }
- ],
- "definition": {
- "val": "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stretch marks"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Purplish striae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Striae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Striae atrophicae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Striae cutis distensae"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10040925"
- },
- {
- "val": "MSH:D057896"
- },
- {
- "val": "SNOMEDCT_US:201066002"
- },
- {
- "val": "SNOMEDCT_US:201067006"
- },
- {
- "val": "SNOMEDCT_US:47212006"
- },
- {
- "val": "UMLS:C0152459"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001067",
- "lbl": "Neurofibromas",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006746"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007386"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007612"
- }
- ],
- "definition": {
- "val": "The presence of multiple cutaneous neurofibromas.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Neurofibromata"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurofibromatosis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "multiple neurofibromas"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017253"
- },
- {
- "val": "NCIT:C3272"
- },
- {
- "val": "SNOMEDCT_US:19133005"
- },
- {
- "val": "SNOMEDCT_US:81669005"
- },
- {
- "val": "UMLS:C0162678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001069",
- "lbl": "Episodic hyperhidrosis",
- "meta": {
- "definition": {
- "val": "Intermittent episodes of abnormally increased perspiration.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sporadic excessive sweating",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperhidrosis, episodic"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857171"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001070",
- "lbl": "Mottled pigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007584"
- }
- ],
- "definition": {
- "val": "Patchy and irregular skin pigmentation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Mottled skin colouring"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mottled skin coloring",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Stippled pigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0860439"
- },
- {
- "val": "UMLS:C4020879"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001071",
- "lbl": "Angiokeratoma corporis diffusum",
- "meta": {
- "comments": [
- "Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease."
- ],
- "definition": {
- "val": "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fabry syndrome",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000795"
- },
- {
- "val": "SNOMEDCT_US:124464003"
- },
- {
- "val": "SNOMEDCT_US:16652001"
- },
- {
- "val": "UMLS:C0002986"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001072",
- "lbl": "Thickened skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007393"
- }
- ],
- "definition": {
- "val": "Laminar thickening of skin.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickened skin"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diffusely thickened skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pachydermia"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10040936"
- },
- {
- "val": "SNOMEDCT_US:17417006"
- },
- {
- "val": "SNOMEDCT_US:69943009"
- },
- {
- "val": "UMLS:C0334008"
- },
- {
- "val": "UMLS:C4020878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001073",
- "lbl": "Cigarette-paper scars",
- "meta": {
- "comments": [
- "Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows."
- ],
- "definition": {
- "val": "Thin (atrophic) and wide scars.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cigarette paper scarring"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cigarette-paper scars"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851828"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001074",
- "lbl": "Atypical nevi in non-sun exposed areas",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4021837"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001075",
- "lbl": "Atrophic scars",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007567"
- }
- ],
- "definition": {
- "val": "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sunken or indented skin due to damage",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin, atrophic scars"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:239172000"
- },
- {
- "val": "SNOMEDCT_US:409766009"
- },
- {
- "val": "UMLS:C0162154"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001076",
- "lbl": "Glabellar hemangioma",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Glabellar capillary hemangioma"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854408"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001080",
- "lbl": "Biliary tract abnormality",
- "meta": {
- "definition": {
- "val": "An abnormality of the biliary tree.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Biliary tract disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001660"
- },
- {
- "val": "SNOMEDCT_US:105997008"
- },
- {
- "val": "UMLS:C0005424"
- },
- {
- "val": "UMLS:C0549613"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001081",
- "lbl": "Cholelithiasis",
- "meta": {
- "comments": [
- "Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones."
- ],
- "definition": {
- "val": "Hard, pebble-like deposits that form within the gallbladder.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gallstones"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002769"
- },
- {
- "val": "SNOMEDCT_US:266474003"
- },
- {
- "val": "UMLS:C0008350"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001082",
- "lbl": "Cholecystitis",
- "meta": {
- "definition": {
- "val": "The presence of inflammatory changes in the gallbladder.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gallbladder inflammation",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002764"
- },
- {
- "val": "SNOMEDCT_US:76581006"
- },
- {
- "val": "UMLS:C0008325"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001083",
- "lbl": "Ectopia lentis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000665"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007637"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007882"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008016"
- }
- ],
- "definition": {
- "val": "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of lens position"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lens dislocation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004479"
- },
- {
- "val": "MSH:D007906"
- },
- {
- "val": "SNOMEDCT_US:74969002"
- },
- {
- "val": "UMLS:C0013581"
- },
- {
- "val": "UMLS:C0023309"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001084",
- "lbl": "Corneal arcus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100741"
- }
- ],
- "comments": [
- "A grey opaque line which surrounds the margin of the cornea caused by lipid deposits."
- ],
- "definition": {
- "val": "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior embryotoxon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Arcus lipoidis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Arcus senilis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corneal annulus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gerontoxon"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Arcus juvenilis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001112"
- },
- {
- "val": "SNOMEDCT_US:111522004"
- },
- {
- "val": "SNOMEDCT_US:231924000"
- },
- {
- "val": "SNOMEDCT_US:231925004"
- },
- {
- "val": "UMLS:C0003742"
- },
- {
- "val": "UMLS:C0339268"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001085",
- "lbl": "Papilledema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001130"
- }
- ],
- "comments": [
- "The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc."
- ],
- "definition": {
- "val": "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Papillitis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010211"
- },
- {
- "val": "SNOMEDCT_US:248487006"
- },
- {
- "val": "SNOMEDCT_US:423341008"
- },
- {
- "val": "SNOMEDCT_US:73221001"
- },
- {
- "val": "UMLS:C0030353"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001087",
- "lbl": "Developmental glaucoma",
- "meta": {
- "definition": {
- "val": "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Paediatric glaucoma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Childhood glaucoma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Infantile glaucoma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pediatric glaucoma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006871"
- },
- {
- "val": "SNOMEDCT_US:204113001"
- },
- {
- "val": "SNOMEDCT_US:413728006"
- },
- {
- "val": "UMLS:C0020302"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001088",
- "lbl": "Brushfield spots",
- "meta": {
- "comments": [
- "Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome)."
- ],
- "definition": {
- "val": "The presence of whitish spots in a ring-like arrangement at the periphery of the iris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speckled iris",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Iris brushfield spots"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:400960002"
- },
- {
- "val": "UMLS:C1303007"
- },
- {
- "val": "UMLS:C4280604"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001089",
- "lbl": "Iris atrophy",
- "meta": {
- "definition": {
- "val": "Loss of iris tissue (atrophy)",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Iris degeneration",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95709007"
- },
- {
- "val": "UMLS:C0423319"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001090",
- "lbl": "Abnormally large globe",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200093"
- }
- ],
- "comments": [
- "Note that Increased size of palpebral fissues is not a synonym of this term."
- ],
- "definition": {
- "val": "Diffusely large eye (with megalocornea) without glaucoma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large eyes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large eyeballs",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megalophthalmos"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased size of palpebral fissures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Large of palpebral fissures",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- {
- "val": "SNOMEDCT_US:246920008"
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- "val": "UMLS:C0423221"
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- {
- "val": "UMLS:C1855852"
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- {
- "val": "UMLS:C4280603"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001092",
- "lbl": "Absent lacrimal punctum",
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- "The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border."
- ],
- "definition": {
- "val": "No identifiable superior and/or inferior lacrimal punctum.",
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- "PMID:19125427"
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- "pred": "hasExactSynonym",
- "val": "Aplasia of lacrimal puncta"
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "pred": "hasRelatedSynonym",
- "val": "Agenesis of the lacrimal punctum"
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- "val": "UMLS:C1867060"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001093",
- "lbl": "Optic nerve dysplasia",
- "meta": {
- "definition": {
- "val": "The presence of developmental dysplasia of the optic nerve.",
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- },
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- "val": "UMLS:C2676026"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001094",
- "lbl": "Iridocyclitis",
- "meta": {
- "definition": {
- "val": "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.",
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- "HPO:probinson"
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- "val": "MSH:D015863"
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- "val": "SNOMEDCT_US:77971008"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001095",
- "lbl": "Hypertensive retinopathy",
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- "val": "MSH:D058437"
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- "val": "SNOMEDCT_US:6962006"
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- "val": "UMLS:C0152132"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001096",
- "lbl": "Keratoconjunctivitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the cornea and conjunctiva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- "val": "MSH:D007637"
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- "val": "SNOMEDCT_US:88151007"
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- "val": "UMLS:C0022573"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001097",
- "lbl": "Keratoconjunctivitis sicca",
- "meta": {
- "definition": {
- "val": "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.",
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- },
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- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dry eye syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dry eyes",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Keratitis sicca"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Xerophthalmia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C531719"
- },
- {
- "val": "MSH:D007638"
- },
- {
- "val": "MSH:D014985"
- },
- {
- "val": "MSH:D015352"
- },
- {
- "val": "SNOMEDCT_US:302896008"
- },
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- "val": "SNOMEDCT_US:363677007"
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- {
- "val": "SNOMEDCT_US:46152009"
- },
- {
- "val": "UMLS:C0013238"
- },
- {
- "val": "UMLS:C0022575"
- },
- {
- "val": "UMLS:C0043349"
- },
- {
- "val": "UMLS:C2930821"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001098",
- "lbl": "Abnormal fundus morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the fundus of the eye."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the fundus"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025804"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001099",
- "lbl": "Fundus atrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C2673929"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001100",
- "lbl": "Heterochromia iridis",
- "meta": {
- "definition": {
- "val": "Heterochromia iridis is a difference in the color of the iris in the two eyes.",
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- ]
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- "pred": "hasExactSynonym",
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- "val": "Different coloured eyes"
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- "pred": "hasExactSynonym",
- "val": "Heterochromia irides"
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- ],
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- "val": "MSH:C538115"
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- "val": "SNOMEDCT_US:247033008"
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- "val": "UMLS:C0423318"
- }
- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001101",
- "lbl": "Iritis",
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- "definition": {
- "val": "Inflammation of the iris.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- }
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- "val": "MSH:D007500"
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- {
- "val": "SNOMEDCT_US:65074000"
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- "val": "UMLS:C0022081"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001102",
- "lbl": "Angioid streaks of the fundus",
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- "comments": [
- "Angioid streaks result from breaks in a weakened Bruch's membrane."
- ],
- "definition": {
- "val": "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.",
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- },
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- "val": "Angioid streaks"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioid streaks of the retina"
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- {
- "pred": "hasExactSynonym",
- "val": "Angioid streaks, retina"
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- "pred": "hasExactSynonym",
- "val": "Knapp streaks"
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- "pred": "hasExactSynonym",
- "val": "Laquer cracks of the retina"
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- ],
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- "val": "MSH:D000793"
- },
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- "val": "UMLS:C0002982"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001103",
- "lbl": "Abnormal macular morphology",
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- "comments": [
- "The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light."
- ],
- "definition": {
- "val": "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.",
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- "HPO:probinson",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Macula abnormality"
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- {
- "pred": "hasExactSynonym",
- "val": "Macular abnormality"
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- ],
- "xrefs": [
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- "val": "UMLS:C0730362"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001104",
- "lbl": "Macular hypoplasia",
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- "definition": {
- "val": "Underdevelopment of the macula lutea.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "xrefs": [
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- "val": "UMLS:C1849412"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001105",
- "lbl": "Retinal atrophy",
- "meta": {
- "definition": {
- "val": "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
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- "xrefs": [
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- "val": "MSH:D012162"
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- "val": "SNOMEDCT_US:405722004"
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- {
- "val": "SNOMEDCT_US:95695004"
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- {
- "val": "UMLS:C0035304"
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- {
- "val": "UMLS:C0521694"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001106",
- "lbl": "Periorbital hyperpigmentation",
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- "definition": {
- "val": "Increased pigmentation of the skin in the region surrounding the orbit of the eye.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dark circles around the eyes",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dark circles under the eyes",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Darkening around the eyes",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentation around the eyes",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Idiopathic cutaneous hyperchromia at the orbital region",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Infraorbital pigmentation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Periorbital melanosis",
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- }
- ],
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- {
- "val": "UMLS:C1844606"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001107",
- "lbl": "Ocular albinism",
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- "comments": [
- "Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia."
- ],
- "definition": {
- "val": "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.",
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- "val": "SNOMEDCT_US:26399002"
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- "val": "UMLS:C0078917"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001112",
- "lbl": "Leber optic atrophy",
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- "definition": {
- "val": "Degeneration of retinal ganglion cells and their axons.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Leber optic degeneration",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
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- "val": "MSH:D029242"
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- "val": "SNOMEDCT_US:58610003"
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- "val": "UMLS:C0917796"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001113",
- "lbl": "obsolete Early cataracts",
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- "deprecated": true
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001114",
- "lbl": "Xanthelasma",
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- "definition": {
- "val": "The presence of xanthomata in the skin of the eyelid.",
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- "HPO:curators"
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- },
- "synonyms": [
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- "val": "Fatty deposits on eyelids",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Xanthelasma palpebrarum",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Xanthoma",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasNarrowSynonym",
- "val": "Xanthelasma of eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Xanthelasma of periocular region",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Xanthoma of eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Xanthoma of periocular region",
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- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
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- "val": "MSH:D014973"
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- "val": "SNOMEDCT_US:63103006"
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- "val": "SNOMEDCT_US:6400008"
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- {
- "val": "SNOMEDCT_US:75594004"
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- "val": "UMLS:C0155210"
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- {
- "val": "UMLS:C0302314"
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- {
- "val": "UMLS:C4280601"
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- "val": "UMLS:C4280602"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001115",
- "lbl": "Posterior polar cataract",
- "meta": {
- "definition": {
- "val": "A polar cataract that affects the posterior pole of the lens.",
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- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Polar cataract, posterior"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1850191"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001116",
- "lbl": "Macular coloboma",
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- "definition": {
- "val": "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.",
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- "DDD:gblack",
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- "pred": "hasExactSynonym",
- "val": "Coloboma of the macula"
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- ],
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- "val": "MSH:C535968"
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- {
- "val": "UMLS:C1852767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001117",
- "lbl": "Sudden loss of visual acuity",
- "meta": {
- "definition": {
- "val": "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sudden decrease in vision",
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- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Sudden central visual loss"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025803"
- },
- {
- "val": "UMLS:C4072828"
- },
- {
- "val": "UMLS:C4280600"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001118",
- "lbl": "Juvenile cataract",
- "meta": {
- "comments": [
- "Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral)."
- ],
- "definition": {
- "val": "A type of cataract that is not apparent at birth but that arises in childhood or adolescence.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:399336001"
- },
- {
- "val": "UMLS:C0302254"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001119",
- "lbl": "Keratoglobus",
- "meta": {
- "definition": {
- "val": "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.",
- "xrefs": [
- "PMID:19667340"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C3887531"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001120",
- "lbl": "Abnormality of corneal size",
- "meta": {
- "definition": {
- "val": "Any abnormality of the size or morphology of the cornea.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025802"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001122",
- "lbl": "obsolete Aplasia/Hypoplasia of the choroid",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000610"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001123",
- "lbl": "Visual field defect",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial loss of field of vision",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Visual field defects",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:12184005"
- },
- {
- "val": "UMLS:C3887875"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001125",
- "lbl": "Transient unilateral blurring of vision",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000583"
- }
- ],
- "comments": [
- "The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens."
- ],
- "definition": {
- "val": "Transient blurring of vision associated with the aura phase of migraine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hemianoptic blurring of vision"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transient unilateral blurred vision"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hemianopic blurring"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865332"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001126",
- "lbl": "Cryptophthalmos",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008032"
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- ],
- "comments": [
- "Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin."
- ],
- "definition": {
- "val": "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:400951005"
- },
- {
- "val": "UMLS:C0311249"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001128",
- "lbl": "Trichiasis",
- "meta": {
- "comments": [
- "Eyelash inversion."
- ],
- "definition": {
- "val": "Inversion and rubbing of the eyelashes against the globe of the eye.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ingrown eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Trichiasis of eyelid eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Introversion of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D058457"
- },
- {
- "val": "SNOMEDCT_US:60332004"
- },
- {
- "val": "UMLS:C0221259"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001129",
- "lbl": "Large central visual field defect",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large central loss of field of vision",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025800"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001131",
- "lbl": "Corneal dystrophy",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007775"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008005"
- }
- ],
- "definition": {
- "val": "The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:5587004"
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- {
- "val": "UMLS:C0010036"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001132",
- "lbl": "Lens subluxation",
- "meta": {
- "comments": [
- "Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis)."
- ],
- "definition": {
- "val": "Partial dislocation of the lens of the eye.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partially dislocated lens",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007906"
- },
- {
- "val": "SNOMEDCT_US:65814009"
- },
- {
- "val": "UMLS:C0023316"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001133",
- "lbl": "Constriction of peripheral visual field",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007981"
- }
- ],
- "definition": {
- "val": "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited peripheral vision",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Concentric narrowing of visual field"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Constricted visual field"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced peripheral vision"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Visual field constriction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Constricted visual fields",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:1151008"
- },
- {
- "val": "SNOMEDCT_US:267628004"
- },
- {
- "val": "UMLS:C0235095"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001134",
- "lbl": "Anterior polar cataract",
- "meta": {
- "definition": {
- "val": "A polar cataract that affects the anterior pole of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Polar cataract, anterior"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538282"
- },
- {
- "val": "UMLS:C1855179"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001135",
- "lbl": "Chorioretinal dystrophy",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007712"
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- {
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- "val": "HP:0007920"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1857627"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001136",
- "lbl": "Retinal arteriolar tortuosity",
- "meta": {
- "definition": {
- "val": "The presence of an increased number of twists and turns of the retinal arterioles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tortuous retinal arterioles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843517"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001137",
- "lbl": "Alternating esotropia",
- "meta": {
- "comments": [
- "Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time)."
- ],
- "definition": {
- "val": "Esotropia in which either eye may be used for fixation.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Alternating cross eyes",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:39837002"
- },
- {
- "val": "UMLS:C0152205"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001138",
- "lbl": "Optic neuropathy",
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- "basicPropertyValues": [
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Damaged optic nerve",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:82108004"
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- {
- "val": "UMLS:C3887709"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001139",
- "lbl": "Choroideremia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D015794"
- },
- {
- "val": "SNOMEDCT_US:75241009"
- },
- {
- "val": "UMLS:C0008525"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001140",
- "lbl": "Limbal dermoid",
- "meta": {
- "definition": {
- "val": "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Benign eye tumour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Epibulbar dermoids"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Benign eye tumor",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epibulbar dermoid"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:5131000119107"
- },
- {
- "val": "SNOMEDCT_US:92097004"
- },
- {
- "val": "UMLS:C0496897"
- },
- {
- "val": "UMLS:C1867616"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001141",
- "lbl": "Severely reduced visual acuity",
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- "val": "HP:0008023"
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- ],
- "definition": {
- "val": "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).",
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- "PMID:28779882"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- {
- "pred": "hasExactSynonym",
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- "val": "Severe visual impairment"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severely impaired vision"
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- {
- "pred": "hasExactSynonym",
- "val": "Severe reduction in visual acuity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Severe vision loss"
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- {
- "pred": "hasExactSynonym",
- "val": "Severe visual loss"
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- "val": "UMLS:C1301509"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001142",
- "lbl": "Lenticonus",
- "meta": {
- "comments": [
- "A conical projection of the anterior or posterior surface of the lens."
- ],
- "definition": {
- "val": "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001144",
- "lbl": "Orbital cyst",
- "meta": {
- "definition": {
- "val": "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Cyst of eye socket",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Orbital cysts"
- }
- ],
- "xrefs": [
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- },
- {
- "val": "UMLS:C0155285"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001145",
- "lbl": "obsolete Chorioretinopathy",
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001146",
- "lbl": "obsolete Pigmentary retinal degeneration",
- "meta": {
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001147",
- "lbl": "Retinal exudate",
- "meta": {
- "comments": [
- "Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema."
- ],
- "definition": {
- "val": "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Retinal exudates"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:39832008"
- },
- {
- "val": "UMLS:C0240897"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001149",
- "lbl": "Lattice corneal dystrophy",
- "meta": {
- "definition": {
- "val": "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Biber haab dimmer dystrophy",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D028227"
- },
- {
- "val": "SNOMEDCT_US:1192004"
- },
- {
- "val": "SNOMEDCT_US:361199007"
- },
- {
- "val": "UMLS:C0155127"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001150",
- "lbl": "obsolete Choroidal sclerosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000532"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001151",
- "lbl": "Impaired horizontal smooth pursuit",
- "meta": {
- "definition": {
- "val": "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal horizontal ocular pursuit"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impaired horizontal visual pursuit"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866753"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001152",
- "lbl": "Saccadic smooth pursuit",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000530"
- }
- ],
- "comments": [
- "Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target."
- ],
- "definition": {
- "val": "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Saccadic pursuit movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Saccadic slow pursuit"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836479"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001153",
- "lbl": "Septate vagina",
- "meta": {
- "definition": {
- "val": "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Double vagina",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:47054003"
- },
- {
- "val": "UMLS:C0266411"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001155",
- "lbl": "Abnormality of the hand",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005858"
- }
- ],
- "definition": {
- "val": "An abnormality affecting one or both hands.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the hand"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand anomalies"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand deformities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal hands",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006226"
- },
- {
- "val": "SNOMEDCT_US:299033004"
- },
- {
- "val": "UMLS:C0018564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001156",
- "lbl": "Brachydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001189"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001201"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005630"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005657"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005727"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006017"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006128"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100667"
- }
- ],
- "definition": {
- "val": "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short fingers or toes",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachydactyly syndrome"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D059327"
- },
- {
- "val": "SNOMEDCT_US:43476002"
- },
- {
- "val": "UMLS:C0221357"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001159",
- "lbl": "Syndactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001206"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001236"
- }
- ],
- "comments": [
- "Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip."
- ],
- "definition": {
- "val": "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed fingers or toes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4174"
- },
- {
- "val": "MSH:D013576"
- },
- {
- "val": "SNOMEDCT_US:373413006"
- },
- {
- "val": "UMLS:C0039075"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001161",
- "lbl": "Hand polydactyly",
- "meta": {
- "definition": {
- "val": "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra finger",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Finger polydactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly of the hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supernumerary finger",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10036064"
- },
- {
- "val": "SNOMEDCT_US:81793007"
- },
- {
- "val": "UMLS:C0158733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001162",
- "lbl": "Postaxial hand polydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004698"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005763"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009984"
- }
- ],
- "definition": {
- "val": "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra little finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra pinkie finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra pinky finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly affecting the 5th finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postaxial polydactyly of fingers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postaxial polydactyly of hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postaxial polydactyly of hands"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205131007"
- },
- {
- "val": "UMLS:C0431904"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001163",
- "lbl": "Abnormality of the metacarpal bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0005916"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001166",
- "lbl": "Arachnodactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001505"
- }
- ],
- "definition": {
- "val": "Abnormally long and slender fingers (\"spider fingers\").",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long slender fingers"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider fingers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Long, slender fingers"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054119"
- },
- {
- "val": "SNOMEDCT_US:62250003"
- },
- {
- "val": "UMLS:C0003706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001167",
- "lbl": "Abnormality of finger",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003035"
- }
- ],
- "definition": {
- "val": "An anomaly of a finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of the fingers"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2674737"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001169",
- "lbl": "Broad palm",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001174"
- }
- ],
- "comments": [
- "Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ)."
- ],
- "definition": {
- "val": "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad hand"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad palm"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide palm"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad hands",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:48251003"
- },
- {
- "val": "UMLS:C0264142"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001171",
- "lbl": "Split hand",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0001247"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003050"
- }
- ],
- "definition": {
- "val": "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Split hand"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Split-hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ectrodactyly of the hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hand ectrodactyly"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:299034005"
- },
- {
- "val": "UMLS:C0221373"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001172",
- "lbl": "Abnormal thumb morphology",
- "meta": {
- "definition": {
- "val": "An abnormal structure of the first digit of the hand."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the thumb"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the thumbs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thumb deformity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536903"
- },
- {
- "val": "SNOMEDCT_US:299130003"
- },
- {
- "val": "UMLS:C0575897"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001176",
- "lbl": "Large hands",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002820"
- },
- {
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- "val": "HP:0006044"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006219"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large hands"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "large hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Disproportionately large hands"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249752003"
- },
- {
- "val": "UMLS:C0426870"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001177",
- "lbl": "Preaxial hand polydactyly",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005629"
- },
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- "val": "HP:0005634"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006182"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009604"
- }
- ],
- "definition": {
- "val": "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra thumb",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly affecting the thumb"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial polydactyly of hands"
- },
- {
- "pred": "hasExactSynonym",
- "val": "thumb polydactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supernumerary thumb",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536332"
- },
- {
- "val": "SNOMEDCT_US:205135003"
- },
- {
- "val": "SNOMEDCT_US:445216006"
- },
- {
- "val": "UMLS:C1395852"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001178",
- "lbl": "Ulnar claw",
- "meta": {
- "comments": [
- "An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand."
- ],
- "definition": {
- "val": "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025799"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001180",
- "lbl": "Hand oligodactyly",
- "meta": {
- "definition": {
- "val": "A developmental defect resulting in the presence of fewer than the normal number of fingers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand has less than 5 fingers",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:71358006"
- },
- {
- "val": "UMLS:C0728895"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001181",
- "lbl": "Adducted thumb",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005646"
- }
- ],
- "comments": [
- "The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3."
- ],
- "definition": {
- "val": "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.",
- "xrefs": [
- "ORCID:0000-0002-6670-9157",
- "PMID:16235349",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inward turned thumb",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Adducted thumbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thumb-in-palm deformity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thumb-in-palm pattern"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3554617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001182",
- "lbl": "Tapered finger",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005795"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005800"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006032"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006080"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006098"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006111"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006125"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006244"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007532"
- }
- ],
- "definition": {
- "val": "The gradual reduction in girth of the finger from proximal to distal.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapered finger"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapered fingertips"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapering fingers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distally tapering fingers"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Tapered fingers",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249768009"
- },
- {
- "val": "UMLS:C0426886"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001187",
- "lbl": "Hyperextensibility of the finger joints",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006158"
- }
- ],
- "definition": {
- "val": "The ability of the finger joints to move beyond their normal range of motion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Finger joint hyperextensibility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperextensible digits"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperextensible finger"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperextensible fingers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844577"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001188",
- "lbl": "Hand clenching",
- "meta": {
- "comments": [
- "Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately."
- ],
- "definition": {
- "val": "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:10085502",
- "PMID:16702456"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Clenched hands"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand clenching"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Clenched hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239815"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001191",
- "lbl": "Abnormal carpal morphology",
- "meta": {
- "definition": {
- "val": "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomalous carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Carpal bone anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840535"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001193",
- "lbl": "Ulnar deviation of the hand or of fingers of the hand",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4048199"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001194",
- "lbl": "Abnormalities of placenta or umbilical cord",
- "meta": {
- "definition": {
- "val": "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of placenta or umbilical cord"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001195",
- "lbl": "Single umbilical artery",
- "meta": {
- "comments": [
- "The umbilical cord normally has two arteries and one vein."
- ],
- "definition": {
- "val": "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Only one artery in umbilical cord instead of two",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Two-vessel cord"
- },
- {
- "pred": "hasExactSynonym",
- "val": "2 vessel cord",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "2 vessel umbilical cord",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Two vessel cord",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Two vessel umbilical cord",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D058529"
- },
- {
- "val": "SNOMEDCT_US:204470001"
- },
- {
- "val": "UMLS:C1384670"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001196",
- "lbl": "Short umbilical cord",
- "meta": {
- "definition": {
- "val": "Decreased length of the umbilical cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short umbilical cord"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:59795007"
- },
- {
- "val": "UMLS:C0266786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001197",
- "lbl": "Abnormality of prenatal development or birth",
- "meta": {
- "comments": [
- "Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality."
- ],
- "definition": {
- "val": "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of prenatal development or birth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025797"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001199",
- "lbl": "Triphalangeal thumb",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005846"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006194"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009610"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009619"
- }
- ],
- "comments": [
- "The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb."
- ],
- "definition": {
- "val": "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Finger-like thumb"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Accessory phalanx of the thumb"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Digitalized thumb"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Triphalangeal thumbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Triphalangy of thumb"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C573898"
- },
- {
- "val": "SNOMEDCT_US:205308004"
- },
- {
- "val": "UMLS:C0241397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001204",
- "lbl": "Distal symphalangism of hands",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006116"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009841"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009871"
- }
- ],
- "definition": {
- "val": "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused outermost bones of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Symphalangism affecting the distal phalanges of the hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Synostosis of distal phalanges"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Terminal symphalangism"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862158"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001211",
- "lbl": "Abnormal fingertip morphology",
- "meta": {
- "definition": {
- "val": "An abnormal structure of the tip (end) of a finger."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the fingertips"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025796"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001212",
- "lbl": "Prominent fingertip pads",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001235"
- }
- ],
- "definition": {
- "val": "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent finger pads"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent fingertip pads"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Persistent foetal fingertip pads"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistence of fingerpads"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent fetal fingertip pads"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001215",
- "lbl": "Camptodactyly of 2nd-5th fingers",
- "meta": {
- "definition": {
- "val": "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1859368"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001216",
- "lbl": "Delayed ossification of carpal bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006069"
- }
- ],
- "definition": {
- "val": "Ossification of carpal bones occurs later than age-adjusted norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed maturation of wrist bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Carpal delayed ossification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed carpal bone age"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed carpal ossification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed maturation of carpal bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1841684"
- },
- {
- "val": "UMLS:C4280599"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001217",
- "lbl": "Clubbing",
- "meta": {
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- "val": "HP:0005874"
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- "comments": [
- "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers)."
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- "definition": {
- "val": "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.",
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- "synonyms": [
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- "val": "Clubbing of fingers and toes"
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- "val": "Digital clubbing"
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- "val": "SNOMEDCT_US:367004"
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- "val": "UMLS:C0149651"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001218",
- "lbl": "Autoamputation",
- "meta": {
- "definition": {
- "val": "Spontaneous detachment (amputation) of an appendage from the body.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C1833222"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001220",
- "lbl": "Interphalangeal joint contracture of finger",
- "meta": {
- "definition": {
- "val": "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Interphalangeal joint flexion contractures"
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- ],
- "xrefs": [
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- "val": "UMLS:C4021784"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001222",
- "lbl": "Spatulate thumbs",
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- "definition": {
- "val": "Spoon-shaped, broad thumbs.",
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- },
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C0241395"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001223",
- "lbl": "Pointed proximal second through fifth metacarpals",
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- "definition": {
- "val": "All of the metacarpal bones of the hand have a pointed proximal appearance.",
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- "HPO:curators"
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- "val": "UMLS:C1854787"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001225",
- "lbl": "Wrist swelling",
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C0241760"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001226",
- "lbl": "obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits",
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- "val": "HP:0006121"
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- "deprecated": true
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001227",
- "lbl": "Abnormality of the thenar eminence",
- "meta": {
- "definition": {
- "val": "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.",
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- "HPO:curators"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Thenar abnormality"
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- "val": "UMLS:C4021783"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001230",
- "lbl": "Broad metacarpals",
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- "val": "HP:0006065"
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- ],
- "definition": {
- "val": "Abnormally broad metacarpal bones.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Wide long bones of hand",
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- {
- "pred": "hasExactSynonym",
- "val": "Wide metacarpals"
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- "val": "UMLS:C1842229"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001231",
- "lbl": "Abnormal fingernail morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the fingernails.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the fingernails"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal fingernails",
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- "val": "UMLS:C4021782"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001232",
- "lbl": "Nail bed telangiectasia",
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- "definition": {
- "val": "Telangiectases in the area of the nails.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nail bed telangiectases"
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- ],
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- "val": "UMLS:C1838167"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001233",
- "lbl": "2-3 finger syndactyly",
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- "definition": {
- "val": "Syndactyly with fusion of fingers two and three.",
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- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Webbed 2nd-3rd fingers",
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- "ORCID:0000-0001-5208-3432"
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- },
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- "pred": "hasExactSynonym",
- "val": "Syndactyly 2nd-3rd fingers"
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- "pred": "hasExactSynonym",
- "val": "Syndactyly, 2-3 finger"
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- "xrefs": [
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- "val": "UMLS:C0432055"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001234",
- "lbl": "Hitchhiker thumb",
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- "The condition known as \"hitchhiker's thumb\" means, that the distal phalanx of the thumb, when the thumb is extended (as in a \"thumbs-up\"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending."
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- "definition": {
- "val": "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.",
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- "val": "Abducted thumb"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001238",
- "lbl": "Slender finger",
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- "definition": {
- "val": "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.",
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- "PMID:19125433"
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- "synonyms": [
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- "val": "Narrow fingers"
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- "val": "thin fingers"
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- "val": "UMLS:C1857482"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001239",
- "lbl": "Wrist flexion contracture",
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- "definition": {
- "val": "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Wrist flexion deformity"
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- "xrefs": [
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- "val": "SNOMEDCT_US:202275008"
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- "val": "UMLS:C0409345"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001241",
- "lbl": "Capitate-hamate fusion",
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- "pred": "hasExactSynonym",
- "val": "Capitate-hamate fusions"
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- "pred": "hasExactSynonym",
- "val": "Fused capitate and hamate"
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- "pred": "hasExactSynonym",
- "val": "Fusion of capitate and hamate"
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- "pred": "hasExactSynonym",
- "val": "Fusion of hamate and capitate"
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- "xrefs": [
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- "val": "UMLS:C1857002"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001245",
- "lbl": "Small thenar eminence",
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- "comments": [
- "The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally."
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- "definition": {
- "val": "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.",
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- "synonyms": [
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- "val": "Hypoplastic thenar eminences"
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- "pred": "hasExactSynonym",
- "val": "Thenar hypoplasia"
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- "pred": "hasExactSynonym",
- "val": "Thenar muscle hypoplasia"
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- "pred": "hasExactSynonym",
- "val": "Decreased thenar eminence",
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- "https://orcid.org/0000-0001-5208-3432"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001248",
- "lbl": "Short tubular bones of the hand",
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- "definition": {
- "val": "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.",
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- "synonyms": [
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- "type": "CLASS"
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- "val": "HP:0002499"
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- "val": "HP:0002543"
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- "val": "HP:0003767"
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- "val": "HP:0006833"
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- "val": "HP:0006877"
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- "comments": [
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- "definition": {
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Low intelligence"
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- "pred": "hasRelatedSynonym",
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- "val": "Poor school performance"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Nonprogressive mental retardation"
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- "pred": "hasRelatedSynonym",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002431"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002432"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002434"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002437"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002466"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002479"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002794"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006997"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010520"
- }
- ],
- "comments": [
- "A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold."
- ],
- "definition": {
- "val": "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15816939"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Seizures"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Epilepsy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epileptic seizure"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004827"
- },
- {
- "val": "MSH:D012640"
- },
- {
- "val": "SNOMEDCT_US:128613002"
- },
- {
- "val": "SNOMEDCT_US:246545002"
- },
- {
- "val": "SNOMEDCT_US:313307000"
- },
- {
- "val": "SNOMEDCT_US:84757009"
- },
- {
- "val": "SNOMEDCT_US:91175000"
- },
- {
- "val": "UMLS:C0014544"
- },
- {
- "val": "UMLS:C0036572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001251",
- "lbl": "Ataxia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001253"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002513"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007050"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007157"
- }
- ],
- "comments": [
- "Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia."
- ],
- "definition": {
- "val": "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebellar ataxia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002524"
- },
- {
- "val": "SNOMEDCT_US:85102008"
- },
- {
- "val": "UMLS:C0007758"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001252",
- "lbl": "Hypotonia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0011398"
- }
- ],
- "comments": [
- "Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features."
- ],
- "definition": {
- "val": "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21418198"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low muscle tone"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low or weak muscle tone",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle hypotonia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscular hypotonia"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Central hypotonia"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Peripheral hypotonia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009123"
- },
- {
- "val": "SNOMEDCT_US:398151007"
- },
- {
- "val": "SNOMEDCT_US:398152000"
- },
- {
- "val": "UMLS:C0026827"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001254",
- "lbl": "Lethargy",
- "meta": {
- "definition": {
- "val": "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lethargy"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D053609"
- },
- {
- "val": "SNOMEDCT_US:214264003"
- },
- {
- "val": "UMLS:C0023380"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001256",
- "lbl": "Intellectual disability, mild",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006908"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007119"
- }
- ],
- "definition": {
- "val": "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intellectual disability, mild"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental retardation, borderline-mild"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mild and nonprogressive mental retardation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mild mental retardation"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental retardation, mild"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:86765009"
- },
- {
- "val": "UMLS:C0026106"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001257",
- "lbl": "Spasticity",
- "meta": {
- "definition": {
- "val": "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary muscle stiffness, contraction, or spasm",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle spasticity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscular spasticity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009128"
- },
- {
- "val": "SNOMEDCT_US:221360009"
- },
- {
- "val": "SNOMEDCT_US:397790002"
- },
- {
- "val": "UMLS:C0026838"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001258",
- "lbl": "Spastic paraplegia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007062"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007124"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007216"
- }
- ],
- "comments": [
- "This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies."
- ],
- "definition": {
- "val": "Spasticity and weakness of the leg and hip muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spastic paraplegia, lower limb"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010264"
- },
- {
- "val": "SNOMEDCT_US:192967009"
- },
- {
- "val": "UMLS:C0037772"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001259",
- "lbl": "Coma",
- "meta": {
- "comments": [
- "Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem."
- ],
- "definition": {
- "val": "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coma"
- }
- ],
- "xrefs": [
- {
- "val": "ICD-10:R40.2"
- },
- {
- "val": "MSH:D003128"
- },
- {
- "val": "SNOMEDCT_US:371632003"
- },
- {
- "val": "UMLS:C0009421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001260",
- "lbl": "Dysarthria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002327"
- }
- ],
- "definition": {
- "val": "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty articulating speech"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysarthric speech"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004401"
- },
- {
- "val": "SNOMEDCT_US:8011004"
- },
- {
- "val": "UMLS:C0013362"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001262",
- "lbl": "Excessive daytime somnolence",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002189"
- }
- ],
- "definition": {
- "val": "A state of abnormally strong desire for sleep during the daytime."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive daytime sleepiness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "More than typical sleepiness during day",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:271782001"
- },
- {
- "val": "SNOMEDCT_US:79519003"
- },
- {
- "val": "UMLS:C2830004"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001263",
- "lbl": "Global developmental delay",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000754"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001255"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001277"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001292"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002433"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002473"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002532"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006793"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006867"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006885"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006935"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007005"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007094"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007106"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007174"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007224"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007228"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007342"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0025356"
- }
- ],
- "comments": [
- "Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication."
- ],
- "definition": {
- "val": "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.",
- "xrefs": [
- "DDD:hvfirth",
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delayed cognitive development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed developmental milestones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed intellectual development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed milestones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed psychomotor development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Developmental delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Developmental delay in early childhood"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Developmental delay, global"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Developmental retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lack of psychomotor development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motor and developmental delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motormental retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor development deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor development failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor developmental delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retarded development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retarded mental development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retarded psychomotor development"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cognitive delay"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Mental and motor retardation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:224958001"
- },
- {
- "val": "UMLS:C0557874"
- },
- {
- "val": "UMLS:C1864897"
- },
- {
- "val": "UMLS:C4020875"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001264",
- "lbl": "Spastic diplegia",
- "meta": {
- "definition": {
- "val": "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spastic diparesis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spastic diplegic"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002547"
- },
- {
- "val": "SNOMEDCT_US:281411007"
- },
- {
- "val": "UMLS:C0023882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001265",
- "lbl": "Hyporeflexia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002467"
- }
- ],
- "definition": {
- "val": "Reduction of neurologic reflexes such as the knee-jerk reaction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased reflex response"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased reflexes",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:405946002"
- },
- {
- "val": "UMLS:C0700078"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001266",
- "lbl": "Choreoathetosis",
- "meta": {
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- "val": "HP:0006811"
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- "val": "HP:0007028"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007337"
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- ],
- "definition": {
- "val": "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Choreoathetoid movements"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:43105007"
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- {
- "val": "UMLS:C0085583"
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- {
- "val": "UMLS:C0234967"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001268",
- "lbl": "Mental deterioration",
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- "val": "HP:0006822"
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- "val": "HP:0007155"
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- "val": "HP:0007253"
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- "val": "HP:0007264"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007298"
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- ],
- "definition": {
- "val": "Loss of previously present mental abilities, generally in adults.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cognitive decline"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cognitive decline, progressive"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intellectual deterioration"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental deterioration"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressive cognitive decline"
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- ],
- "xrefs": [
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- "val": "MSH:D060825"
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- {
- "val": "UMLS:C0234985"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001269",
- "lbl": "Hemiparesis",
- "meta": {
- "definition": {
- "val": "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.",
- "xrefs": [
- "HPO:probinson",
- "UKB:tklockgether"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weakness of one side of body",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010291"
- },
- {
- "val": "SNOMEDCT_US:127377003"
- },
- {
- "val": "SNOMEDCT_US:20022000"
- },
- {
- "val": "UMLS:C0018989"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001270",
- "lbl": "Motor delay",
- "meta": {
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- "val": "HP:0001307"
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- "val": "HP:0002130"
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- "val": "HP:0006788"
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- "val": "HP:0006826"
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- "val": "HP:0006909"
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- "val": "HP:0006950"
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- "val": "HP:0006968"
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- "val": "HP:0007219"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007251"
- }
- ],
- "definition": {
- "val": "A type of Developmental delay characterized by a delay in acquiring motor skills.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delay in motor development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed early motor milestones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed motor development"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed motor milestones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Locomotor delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motor developmental delay"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motor developmental milestones not achieved"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motor retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retarded motor development"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "No development of motor milestones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854301"
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- {
- "val": "UMLS:C4020874"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001271",
- "lbl": "Polyneuropathy",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007287"
- }
- ],
- "definition": {
- "val": "A generalized disorder of peripheral nerves.",
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- "HPO:curators"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Peripheral nerve disease",
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- "ORCID:0000-0001-5208-3432"
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- "val": "MSH:D010523"
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- {
- "val": "MSH:D011115"
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- "val": "SNOMEDCT_US:302226006"
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- {
- "val": "SNOMEDCT_US:42345000"
- },
- {
- "val": "SNOMEDCT_US:42658009"
- },
- {
- "val": "UMLS:C0031117"
- },
- {
- "val": "UMLS:C0152025"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001272",
- "lbl": "Cerebellar atrophy",
- "meta": {
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- "val": "HP:0006839"
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- "val": "HP:0007072"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007203"
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- ],
- "comments": [
- "Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss."
- ],
- "definition": {
- "val": "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.",
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- "PMID:12169461",
- "PMID:26331051"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Degeneration of cerebellum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrophic cerebellum"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Infratentorial atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95646004"
- },
- {
- "val": "UMLS:C0262404"
- },
- {
- "val": "UMLS:C0740279"
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- {
- "val": "UMLS:C4020873"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001273",
- "lbl": "Abnormal corpus callosum morphology",
- "meta": {
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- "val": "HP:0007323"
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- "comments": [
- "The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium."
- ],
- "definition": {
- "val": "Abnormality of the corpus callosum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21263138"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corpus callosum abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842581"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001274",
- "lbl": "Agenesis of corpus callosum",
- "meta": {
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- "val": "HP:0006800"
- }
- ],
- "definition": {
- "val": "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.",
- "xrefs": [
- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence of corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of the corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Callosal agenesis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corpus callosum agenesis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysplastic or absent corpus callosum"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4321"
- },
- {
- "val": "MSH:D061085"
- },
- {
- "val": "SNOMEDCT_US:5102002"
- },
- {
- "val": "UMLS:C0175754"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001276",
- "lbl": "Hypertonia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002388"
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- ],
- "comments": [
- "Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses."
- ],
- "definition": {
- "val": "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spasticity and rigidity of muscles",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypertonicity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased muscle tone"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Muscle hypertonia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009122"
- },
- {
- "val": "SNOMEDCT_US:41581000"
- },
- {
- "val": "SNOMEDCT_US:56731001"
- },
- {
- "val": "UMLS:C0026826"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001278",
- "lbl": "Orthostatic hypotension",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006700"
- }
- ],
- "definition": {
- "val": "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decrease in blood pressure upon standing up",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postural hypotension"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007024"
- },
- {
- "val": "SNOMEDCT_US:28651003"
- },
- {
- "val": "UMLS:C0020651"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001279",
- "lbl": "Syncope",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-02-25T10:37:00Z"
- }
- ],
- "definition": {
- "val": "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fainting spell"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013575"
- },
- {
- "val": "SNOMEDCT_US:271594007"
- },
- {
- "val": "SNOMEDCT_US:272030005"
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- {
- "val": "SNOMEDCT_US:309585006"
- },
- {
- "val": "UMLS:C0039070"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001281",
- "lbl": "Tetany",
- "meta": {
- "definition": {
- "val": "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent involuntary muscle spasm",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013746"
- },
- {
- "val": "SNOMEDCT_US:10629009"
- },
- {
- "val": "UMLS:C0039621"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001283",
- "lbl": "Bulbar palsy",
- "meta": {
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- "val": "HP:0003709"
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- ],
- "definition": {
- "val": "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bulbar muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bulbar palsies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bulbar weakness"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010244"
- },
- {
- "val": "SNOMEDCT_US:398432008"
- },
- {
- "val": "UMLS:C1301959"
- },
- {
- "val": "UMLS:C4082299"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001284",
- "lbl": "Areflexia",
- "meta": {
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- ],
- "comments": [
- "The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex)."
- ],
- "definition": {
- "val": "Absence of neurologic reflexes such as the knee-jerk reaction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep tendon reflexes absent"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of deep tendon reflexes"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012021"
- },
- {
- "val": "SNOMEDCT_US:349006"
- },
- {
- "val": "SNOMEDCT_US:37280007"
- },
- {
- "val": "UMLS:C0234146"
- },
- {
- "val": "UMLS:C0241772"
- },
- {
- "val": "UMLS:C0278124"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001285",
- "lbl": "Spastic tetraparesis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002393"
- }
- ],
- "definition": {
- "val": "Spastic weakness affecting all four limbs.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spastic quadriparesis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298282001"
- },
- {
- "val": "UMLS:C0575059"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001287",
- "lbl": "Meningitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the meninges.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D008581"
- },
- {
- "val": "SNOMEDCT_US:7180009"
- },
- {
- "val": "UMLS:C0025289"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001288",
- "lbl": "Gait disturbance",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006953"
- }
- ],
- "comments": [
- "If possible, this term should not be used for new annotations. Rather, a more specific term should be sought."
- ],
- "definition": {
- "val": "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.",
- "xrefs": [
- "HPO:probinson",
- "PMID:27770207"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal gait"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired gait"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal walk",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gait abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gait difficulties"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gait disturbances"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:22325002"
- },
- {
- "val": "UMLS:C0575081"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001289",
- "lbl": "Confusion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000731"
- }
- ],
- "definition": {
- "val": "Lack of clarity and coherence of thought, perception, understanding, or action.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Confusion"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disorientation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Easily confused"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental disorientation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003221"
- },
- {
- "val": "SNOMEDCT_US:286933003"
- },
- {
- "val": "UMLS:C0009676"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001290",
- "lbl": "Generalized hypotonia",
- "meta": {
- "definition": {
- "val": "Generalized muscular hypotonia (abnormally low muscle tone).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Generalized decreased muscle tone"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised decreased muscle tone"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hypotonia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised muscular hypotonia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypotonia, generalised"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized muscular hypotonia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotonia, generalized"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858120"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001291",
- "lbl": "Abnormal cranial nerve morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003480"
- }
- ],
- "definition": {
- "val": "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cranial nerves"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranial nerve disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranial nerve involvement"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cranial nerve abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cranial nerve",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854510"
- },
- {
- "val": "UMLS:C4020872"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001293",
- "lbl": "Cranial nerve compression",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95664006"
- },
- {
- "val": "UMLS:C0521670"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001297",
- "lbl": "Stroke",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002452"
- }
- ],
- "definition": {
- "val": "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stroke"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral vascular events"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebrovascular accident"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cerebrovascular accidents",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020521"
- },
- {
- "val": "SNOMEDCT_US:230690007"
- },
- {
- "val": "UMLS:C0038454"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001298",
- "lbl": "Encephalopathy",
- "meta": {
- "comments": [
- "This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted."
- ],
- "definition": {
- "val": "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.",
- "xrefs": [
- "HPO:probinson",
- "KI:phemming"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D001927"
- },
- {
- "val": "SNOMEDCT_US:81308009"
- },
- {
- "val": "UMLS:C0085584"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001300",
- "lbl": "Parkinsonism",
- "meta": {
- "definition": {
- "val": "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Parkinsonian disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020734"
- },
- {
- "val": "SNOMEDCT_US:32798002"
- },
- {
- "val": "UMLS:C0242422"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001301",
- "lbl": "Chronic sensorineural polyneuropathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025794"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001302",
- "lbl": "Pachygyria",
- "meta": {
- "definition": {
- "val": "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.",
- "xrefs": [
- "COST:neuromig",
- "HPO:probinson",
- "PMID:22427329"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fewer and broader ridges in brain"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral pachygyria"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054082"
- },
- {
- "val": "SNOMEDCT_US:23024003"
- },
- {
- "val": "UMLS:C0266483"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001304",
- "lbl": "Torsion dystonia",
- "meta": {
- "definition": {
- "val": "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dystonia musculorum deformans"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004422"
- },
- {
- "val": "SNOMEDCT_US:22451001"
- },
- {
- "val": "SNOMEDCT_US:431034009"
- },
- {
- "val": "UMLS:C0013423"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001305",
- "lbl": "Dandy-Walker malformation",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001313"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006809"
- }
- ],
- "definition": {
- "val": "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.",
- "xrefs": [
- "HPO:probinson",
- "PMID:26246090"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dandy-Walker cyst"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dandy-walker anomaly"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003616"
- },
- {
- "val": "SNOMEDCT_US:14447001"
- },
- {
- "val": "UMLS:C0010964"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001308",
- "lbl": "Tongue fasciculations",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003727"
- }
- ],
- "definition": {
- "val": "Fasciculations or fibrillation affecting the tongue muscle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tongue twitching"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Twitching of the tongue",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tongue fasciculation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tongue fasciculations/fibrillations"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual fasciculations",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual fibrillations",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lingual twitching",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005207"
- },
- {
- "val": "SNOMEDCT_US:249878001"
- },
- {
- "val": "UMLS:C0239548"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001310",
- "lbl": "Dysmetria",
- "meta": {
- "comments": [
- "Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner."
- ],
- "definition": {
- "val": "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of coordination of movement",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormal finger chase test"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormal finger-nose-finger test"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002524"
- },
- {
- "val": "SNOMEDCT_US:32566006"
- },
- {
- "val": "UMLS:C0234162"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001311",
- "lbl": "Abnormal nervous system electrophysiology",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002531"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003129"
- }
- ],
- "definition": {
- "val": "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Neurophysiologic abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurophysiologic abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021781"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001312",
- "lbl": "Giant somatosensory evoked potentials",
- "meta": {
- "definition": {
- "val": "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Giant SEPS"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806961"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001315",
- "lbl": "Reduced tendon reflexes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001316"
- }
- ],
- "comments": [
- "The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect."
- ],
- "definition": {
- "val": "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20941667"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent or decreased deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased to absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased/absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Depressed tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diminished deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diminished or absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diminished or absent tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoactive to absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impaired tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced/absent deep tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Weak or absent deep tendon reflexes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866934"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001317",
- "lbl": "Abnormal cerebellum morphology",
- "meta": {
- "comments": [
- "A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors."
- ],
- "definition": {
- "val": "Any structural abnormality of the cerebellum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:27160001"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the cerebellum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cerebellar abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cerebellar abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cerebellar anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebellar signs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0742038"
- },
- {
- "val": "UMLS:C1866129"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001319",
- "lbl": "Neonatal hypotonia",
- "meta": {
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- "val": "HP:0008976"
- }
- ],
- "definition": {
- "val": "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low muscle tone, in neonatal onset",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotonia, in neonatal onset"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotonia, neonatal"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Congenital hypotonia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009123"
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- {
- "val": "SNOMEDCT_US:205294008"
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- "val": "UMLS:C2267233"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001320",
- "lbl": "Cerebellar vermis hypoplasia",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the vermis of cerebellum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebellar vermal hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the cerebellar vermis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic cerebellar vermis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001321",
- "lbl": "Cerebellar hypoplasia",
- "meta": {
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- "val": "HP:0007053"
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- ],
- "comments": [
- "By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments."
- ],
- "definition": {
- "val": "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.",
- "xrefs": [
- "HPO:probinson",
- "PMID:26331051",
- "PMID:27160001"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small cerebellum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped cerebellum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital cerebellar hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of cerebellum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic cerebellum"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562568"
- },
- {
- "val": "SNOMEDCT_US:16026008"
- },
- {
- "val": "UMLS:C0266470"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001322",
- "lbl": "obsolete Brain very small",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0006872"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001324",
- "lbl": "Muscle weakness",
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- "val": "HP:0008979"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009012"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009061"
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- ],
- "comments": [
- "It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced."
- ],
- "definition": {
- "val": "Reduced strength of muscles.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15832536"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscular weakness"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018908"
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- "val": "SNOMEDCT_US:26544005"
- },
- {
- "val": "UMLS:C0151786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001325",
- "lbl": "Hypoglycemic coma",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coma caused by low blood sugar",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coma, hypoglycemic"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoglycaemic coma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of consciousness due to hypoglycemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:267384006"
- },
- {
- "val": "UMLS:C0020617"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001326",
- "lbl": "EEG with irregular generalized spike and wave complexes",
- "meta": {
- "definition": {
- "val": "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.",
- "xrefs": [
- "HPO:jalbers"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "EEG with irregular generalised spike and wave complexes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025792"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001327",
- "lbl": "Photosensitive myoclonic seizure",
- "meta": {
- "definition": {
- "val": "Generalised myoclonic seizure provoked by flashing or flickering light.",
- "xrefs": [
- "PMID:28276060"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Photomyoclonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Photically induced myoclonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Photomyoclonic seizure"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025791"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001328",
- "lbl": "Specific learning disability",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007234"
- }
- ],
- "comments": [
- "The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation."
- ],
- "definition": {
- "val": "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001331",
- "lbl": "Absent septum pellucidum",
- "meta": {
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- "val": "HP:0006969"
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- ],
- "comments": [
- "In contrast to the septum pellucidum, the cavum septum pellucidum (CSP) is a potential cavity between the membranous leaves of the septum pellucidum, separated by at least 1 mm, and is considered a normal anatomical variation."
- ],
- "definition": {
- "val": "Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.",
- "xrefs": [
- "HPO:probinson",
- "PMID:30725733"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence of septum pellucidum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absence of the septum pellucidum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of the septum pellucidum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Missing septum pellucidum",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C535562"
- },
- {
- "val": "SNOMEDCT_US:253143001"
- },
- {
- "val": "UMLS:C0431371"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001332",
- "lbl": "Dystonia",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- ],
- "definition": {
- "val": "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dystonic movements"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dystonic disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004421"
- },
- {
- "val": "UMLS:C0013421"
- },
- {
- "val": "UMLS:C4020871"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001334",
- "lbl": "Communicating hydrocephalus",
- "meta": {
- "comments": [
- "Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency."
- ],
- "definition": {
- "val": "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.",
- "xrefs": [
- "HPO:probinson",
- "eMedicine:1135286"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006849"
- },
- {
- "val": "SNOMEDCT_US:271569006"
- },
- {
- "val": "UMLS:C0009451"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001335",
- "lbl": "Bimanual synkinesia",
- "meta": {
- "comments": [
- "Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice."
- ],
- "definition": {
- "val": "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.",
- "xrefs": [
- "HPO:probinson",
- "PMID:22412265",
- "PMID:28945198"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand mirror movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mirror hand movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mirror movements"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:229247004"
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- {
- "val": "UMLS:C0454455"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001336",
- "lbl": "Myoclonus",
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- "val": "HP:0007087"
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- ],
- "comments": [
- "Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal."
- ],
- "definition": {
- "val": "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20589866"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Jerking"
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- {
- "pred": "hasExactSynonym",
- "val": "Myoclonic jerks"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Involuntary jerking movements"
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- "xrefs": [
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- "val": "MSH:D009207"
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- "val": "SNOMEDCT_US:127324008"
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- "val": "SNOMEDCT_US:17450006"
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- "val": "UMLS:C0027066"
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- "val": "UMLS:C1854302"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001337",
- "lbl": "Tremor",
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- "comments": [
- "Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching."
- ],
- "definition": {
- "val": "An unintentional, oscillating to-and-fro muscle movement about a joint axis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16344298",
- "PMID:20589866"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tremor"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Tremors"
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- ],
- "xrefs": [
- {
- "val": "MSH:D014202"
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- {
- "val": "SNOMEDCT_US:26079004"
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- {
- "val": "UMLS:C0040822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001338",
- "lbl": "Partial agenesis of the corpus callosum",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007090"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007128"
- }
- ],
- "definition": {
- "val": "A partial failure of the development of the corpus callosum.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Corpus callosum agenesis, partial"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial agenesis of corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial corpus callosum agenesis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial or complete agenesis of corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial to complete agenesis of corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial-total agenesis of corpus callosum"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Partial or complete agenesis of the corpus callosum",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536111"
- },
- {
- "val": "SNOMEDCT_US:253140003"
- },
- {
- "val": "UMLS:C0431368"
- },
- {
- "val": "UMLS:C1857278"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001339",
- "lbl": "Lissencephaly",
- "meta": {
- "basicPropertyValues": [
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- ],
- "comments": [
- "Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci."
- ],
- "definition": {
- "val": "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.",
- "xrefs": [
- "COST:neuromig",
- "HPO:probinson",
- "PMID:28440899"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fewer or absent grooves in brain",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054082"
- },
- {
- "val": "SNOMEDCT_US:204036008"
- },
- {
- "val": "UMLS:C0266463"
- },
- {
- "val": "UMLS:C1879312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001340",
- "lbl": "Enhancement of the C-reflex",
- "meta": {
- "definition": {
- "val": "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.",
- "xrefs": [
- "HPO:probinson",
- "PMID:4819909"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3552824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001341",
- "lbl": "Olfactory lobe agenesis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Olfactory lobe absence"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855331"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001342",
- "lbl": "Cerebral hemorrhage",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002137"
- }
- ],
- "comments": [
- "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself."
- ],
- "definition": {
- "val": "Hemorrhage into the parenchyma of the brain.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Cerebral haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intracerebral haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bleeding in brain",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracerebral hemorrhage"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hemorrhagic stroke",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002543"
- },
- {
- "val": "MSH:D020300"
- },
- {
- "val": "SNOMEDCT_US:230706003"
- },
- {
- "val": "SNOMEDCT_US:274100004"
- },
- {
- "val": "UMLS:C0553692"
- },
- {
- "val": "UMLS:C2937358"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001343",
- "lbl": "Kernicterus",
- "meta": {
- "definition": {
- "val": "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D007647"
- },
- {
- "val": "SNOMEDCT_US:50143004"
- },
- {
- "val": "SNOMEDCT_US:74925009"
- },
- {
- "val": "UMLS:C0022610"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001344",
- "lbl": "Absent speech",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001617"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006798"
- }
- ],
- "comments": [
- "This term should not be used in very young children."
- ],
- "definition": {
- "val": "Complete lack of development of speech and language abilities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent speech development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of language development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of speech"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "No speech development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "No speech or language development"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nonverbal",
- "xrefs": [
- "ORCID:0000-0001-9114-8737"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0746940"
- },
- {
- "val": "UMLS:C1854882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001345",
- "lbl": "Psychotic mentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025789"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001347",
- "lbl": "Hyperreflexia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001282"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006820"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007184"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007318"
- }
- ],
- "comments": [
- "Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less."
- ],
- "definition": {
- "val": "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased deep tendon reflexes"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012021"
- },
- {
- "val": "SNOMEDCT_US:86854008"
- },
- {
- "val": "UMLS:C0151889"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001348",
- "lbl": "Brisk reflexes",
- "meta": {
- "definition": {
- "val": "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Brisk deep tendon reflexes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673700"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001349",
- "lbl": "Facial diplegia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005334"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007085"
- }
- ],
- "definition": {
- "val": "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral facial weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Facial paresis, bilateral"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836003"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001350",
- "lbl": "Slurred speech",
- "meta": {
- "definition": {
- "val": "Abnormal coordination of muscles involved in speech.",
- "xrefs": [
- "DDD:fmunitoni"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slurred speech"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:289195008"
- },
- {
- "val": "UMLS:C0234518"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001351",
- "lbl": "Jerk-locked premyoclonus spikes",
- "meta": {
- "comments": [
- "EEG-EMG jerk-locked averaging is a technique that combines EEG and EMG to assess myoclonus. The technique use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger."
- ],
- "definition": {
- "val": "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.",
- "xrefs": [
- "HPO:probinson",
- "PMID:1464676",
- "PMID:30653168"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3552825"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001355",
- "lbl": "Megalencephaly",
- "meta": {
- "comments": [
- "Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces."
- ],
- "definition": {
- "val": "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).",
- "xrefs": [
- "COST:neuromig",
- "HPO:probinson",
- "PMID:28658095",
- "PMID:29594439"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged brain",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrencephaly"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D058627"
- },
- {
- "val": "SNOMEDCT_US:19410003"
- },
- {
- "val": "UMLS:C0221355"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001357",
- "lbl": "Plagiocephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001121"
- }
- ],
- "comments": [
- "Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone."
- ],
- "definition": {
- "val": "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Asymmetry of the posterior head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Asymmetry of the posterior skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rhomboid shaped head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat head syndrome",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattening of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rhomboid shaped skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattening of head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Asymmetry of the posterior cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Flat head",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flattening of cranial vault",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flattening of cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rhomboid shaped cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformational plagiocephaly",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Positional plagiocephaly",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D049068"
- },
- {
- "val": "MSH:D059041"
- },
- {
- "val": "SNOMEDCT_US:21850008"
- },
- {
- "val": "SNOMEDCT_US:254024005"
- },
- {
- "val": "UMLS:C0265529"
- },
- {
- "val": "UMLS:C1450010"
- },
- {
- "val": "UMLS:C4072830"
- },
- {
- "val": "UMLS:C4280597"
- },
- {
- "val": "UMLS:C4280598"
- },
- {
- "val": "UMLS:C4280807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001360",
- "lbl": "Holoprosencephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009807"
- }
- ],
- "comments": [
- "The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly."
- ],
- "definition": {
- "val": "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Single brain ventricle"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4338"
- },
- {
- "val": "MSH:D016142"
- },
- {
- "val": "SNOMEDCT_US:30915001"
- },
- {
- "val": "UMLS:C0079541"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001361",
- "lbl": "Nystagmus-induced head nodding",
- "meta": {
- "definition": {
- "val": "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025788"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001362",
- "lbl": "Calvarial skull defect",
- "meta": {
- "definition": {
- "val": "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skull defect"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cranial defect",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Calvarial defect",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025787"
- },
- {
- "val": "UMLS:C4280595"
- },
- {
- "val": "UMLS:C4280596"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001363",
- "lbl": "Craniosynostosis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001365"
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- "val": "HP:0004494"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005448"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005457"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005467"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008492"
- }
- ],
- "comments": [
- "Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth."
- ],
- "definition": {
- "val": "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the skull",
- "xrefs": [
- "ORCID:0000-0002-9353-5498",
- "https://en.wikipedia.org/wiki/Craniosynostosis"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Craniosyostosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early fusion of cranial sutures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature closure of cranial sutures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature fontanel closure"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Craniostenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranial suture synostosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature suture closure",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4336"
- },
- {
- "val": "MSH:D003398"
- },
- {
- "val": "SNOMEDCT_US:57219006"
- },
- {
- "val": "UMLS:C0010278"
- },
- {
- "val": "UMLS:C0235942"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001367",
- "lbl": "Abnormal joint morphology",
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- "definition": {
- "val": "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the joints"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the joints"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint disease"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of joints",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007592"
- },
- {
- "val": "SNOMEDCT_US:399269003"
- },
- {
- "val": "UMLS:C0022408"
- },
- {
- "val": "UMLS:C0240083"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001369",
- "lbl": "Arthritis",
- "meta": {
- "definition": {
- "val": "Inflammation of a joint.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Arthritis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint inflammation",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001168"
- },
- {
- "val": "SNOMEDCT_US:3723001"
- },
- {
- "val": "UMLS:C0003864"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001370",
- "lbl": "Rheumatoid arthritis",
- "meta": {
- "definition": {
- "val": "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "RA"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rheumatoid arthritis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001172"
- },
- {
- "val": "SNOMEDCT_US:69896004"
- },
- {
- "val": "UMLS:C0003873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001371",
- "lbl": "Flexion contracture",
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- "basicPropertyValues": [
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- "val": "HP:0001372"
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- "val": "HP:0001381"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005053"
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- "val": "HP:0005189"
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- "val": "HP:0005660"
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- ],
- "definition": {
- "val": "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Flexed joint that cannot be straightened"
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- "pred": "hasExactSynonym",
- "val": "Flexion contractures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flexion contractures of joints"
- }
- ],
- "xrefs": [
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- "val": "MSH:D003286"
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- {
- "val": "SNOMEDCT_US:203598005"
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- {
- "val": "SNOMEDCT_US:385522000"
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- {
- "val": "SNOMEDCT_US:55033002"
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- {
- "val": "SNOMEDCT_US:57048009"
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- {
- "val": "SNOMEDCT_US:7890003"
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- {
- "val": "SNOMEDCT_US:88565003"
- },
- {
- "val": "UMLS:C0009917"
- },
- {
- "val": "UMLS:C0009918"
- },
- {
- "val": "UMLS:C0333068"
- },
- {
- "val": "UMLS:C1850530"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001373",
- "lbl": "Joint dislocation",
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- "val": "HP:0005837"
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- ],
- "comments": [
- "Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation."
- ],
- "definition": {
- "val": "Displacement or malalignment of joints.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint dislocation"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint dislocations",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004204"
- },
- {
- "val": "SNOMEDCT_US:108367008"
- },
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- "val": "SNOMEDCT_US:87642003"
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- "val": "UMLS:C0012691"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001374",
- "lbl": "Congenital hip dislocation",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Dislocated hip since birth",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital dislocation of the hip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital dislocation of the hips"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital hip anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital hip dislocations"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006618"
- },
- {
- "val": "SNOMEDCT_US:48334007"
- },
- {
- "val": "SNOMEDCT_US:52781008"
- },
- {
- "val": "UMLS:C0019555"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001376",
- "lbl": "Limitation of joint mobility",
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- "val": "HP:0003101"
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- ],
- "definition": {
- "val": "A reduction in the freedom of movement of one or more joints.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased joint mobility"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased mobility of joints"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limitation of joint mobility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited joint mobility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited joint motion"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857108"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001377",
- "lbl": "Limited elbow extension",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005073"
- }
- ],
- "definition": {
- "val": "Limited ability to straighten the arm at the elbow joint.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased elbow extension"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elbow limited extension"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limitation of elbow extension"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited elbow extension"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited extension at elbows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited forearm extension"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Restricted elbow extension"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867103"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001379",
- "lbl": "obsolete Degenerative joint disease",
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- {
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- "val": "HP:0002758"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001380",
- "lbl": "obsolete Ligamentous laxity",
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001382",
- "lbl": "Joint hypermobility",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005034"
- }
- ],
- "definition": {
- "val": "The ability of a joint to move beyond its normal range of motion.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Double-Jointed"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flexible joints"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased mobility of joints"
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- {
- "pred": "hasExactSynonym",
- "val": "Extensible joints"
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- {
- "pred": "hasExactSynonym",
- "val": "Hyperextensible joints"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased joint mobility"
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- {
- "pred": "hasExactSynonym",
- "val": "Joint hyperextensibility"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298181000"
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- {
- "val": "UMLS:C1844820"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001384",
- "lbl": "Abnormal hip joint morphology",
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- "definition": {
- "val": "An abnormality of the hip joint.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the hip joint"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the hip joints"
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- ],
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- {
- "val": "UMLS:C4020870"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001385",
- "lbl": "Hip dysplasia",
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- ],
- "definition": {
- "val": "The presence of developmental dysplasia of the hip.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal formation of the hip",
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- "https://orcid.org/0000-0001-5208-3432",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital hip dysplasia"
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- "val": "MSH:D006618"
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- "val": "SNOMEDCT_US:48334007"
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- "val": "SNOMEDCT_US:52781008"
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- "val": "UMLS:C0019555"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001386",
- "lbl": "Joint swelling",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint swelling"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:271771009"
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- {
- "val": "UMLS:C0152031"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001387",
- "lbl": "Joint stiffness",
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- "val": "HP:0003033"
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- ],
- "definition": {
- "val": "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- "val": "Joint stiffness"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stiff joint"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stiff joints"
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- "val": "SNOMEDCT_US:84445001"
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- "val": "UMLS:C0162298"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001388",
- "lbl": "Joint laxity",
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- ],
- "comments": [
- "Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles."
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- "definition": {
- "val": "Lack of stability of a joint.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Loosejointedness"
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- "pred": "hasExactSynonym",
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- "val": "Joint instability",
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- },
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Joint ligamentous laxity"
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- "pred": "hasExactSynonym",
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- "xrefs": [
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- "val": "SNOMEDCT_US:27911000"
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- "val": "SNOMEDCT_US:298203008"
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- "val": "UMLS:C0086437"
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- "val": "UMLS:C0158359"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001392",
- "lbl": "Abnormality of the liver",
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- "val": "An abnormality of the liver.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Abnormal liver"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the liver"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Liver abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
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- "val": "Liver disease"
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- ],
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- "val": "MSH:D008107"
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- "val": "SNOMEDCT_US:235856003"
- },
- {
- "val": "UMLS:C0023895"
- },
- {
- "val": "UMLS:C4021780"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001394",
- "lbl": "Cirrhosis",
- "meta": {
- "comments": [
- "Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies."
- ],
- "definition": {
- "val": "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Scar tissue replaces healthy tissue in the liver",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hepatic cirrhosis"
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- "val": "Liver cirrhosis",
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- }
- ],
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- "val": "MSH:D008103"
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- {
- "val": "SNOMEDCT_US:19943007"
- },
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- "val": "UMLS:C0023890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001395",
- "lbl": "Hepatic fibrosis",
- "meta": {
- "definition": {
- "val": "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Liver fibrosis"
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- ],
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- "val": "MSH:D008103"
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- "val": "SNOMEDCT_US:62484002"
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- "val": "UMLS:C0239946"
- }
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001396",
- "lbl": "Cholestasis",
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- "definition": {
- "val": "Impairment of bile flow due to obstruction in bile ducts.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
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- "val": "Slowed or blocked flow of bile from liver",
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- "https://orcid.org/0000-0002-6548-5200"
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- }
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- "xrefs": [
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- "val": "MSH:D002779"
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- "val": "SNOMEDCT_US:197446008"
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- {
- "val": "SNOMEDCT_US:30144000"
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- {
- "val": "SNOMEDCT_US:33688009"
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- {
- "val": "UMLS:C0008370"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001397",
- "lbl": "Hepatic steatosis",
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- "val": "HP:0200121"
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- "comments": [
- "Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes."
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- "pred": "hasExactSynonym",
- "val": "Steatosis"
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- "val": "MSH:D005234"
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- "val": "SNOMEDCT_US:442191002"
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- "val": "UMLS:C2711227"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001399",
- "lbl": "Hepatic failure",
- "meta": {
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- {
- "pred": "hasExactSynonym",
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- "val": "Liver failure"
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- "xrefs": [
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- "val": "MSH:D017093"
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- "val": "SNOMEDCT_US:59927004"
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- "val": "UMLS:C0085605"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001400",
- "lbl": "obsolete Hepatic abscesses due to immunodeficiency",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001401",
- "lbl": "Intrahepatic biliary dysgenesis",
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- "xrefs": [
- {
- "val": "UMLS:C1859235"
- }
- ]
- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001402",
- "lbl": "Hepatocellular carcinoma",
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- "val": "HP:0006750"
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- "comments": [
- "Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis."
- ],
- "definition": {
- "val": "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.",
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- "val": "Increased hepatocellular carcinoma risk"
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- "val": "Increased incidence of hepatocellular carcinoma"
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- "xrefs": [
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- "val": "MSH:D006528"
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- {
- "val": "NCIT:C3099"
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- "val": "SNOMEDCT_US:109841003"
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- "val": "SNOMEDCT_US:187769009"
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- "val": "SNOMEDCT_US:25370001"
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- "val": "UMLS:C1862761"
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- "val": "UMLS:C1867955"
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- "val": "UMLS:C2239176"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001403",
- "lbl": "Macrovesicular hepatic steatosis",
- "meta": {
- "definition": {
- "val": "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.",
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- "pred": "hasExactSynonym",
- "val": "Macrovesicular steatosis"
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- "val": "UMLS:C1837256"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001404",
- "lbl": "Hepatocellular necrosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Death of liver cells",
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Hepatocellular loss"
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- "val": "UMLS:C1855038"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001405",
- "lbl": "Periportal fibrosis",
- "meta": {
- "comments": [
- "Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells."
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- "definition": {
- "val": "The presence of fibrosis affecting the interlobular stroma of liver.",
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- "HPO:probinson"
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- "xrefs": [
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- "val": "UMLS:C1849766"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001406",
- "lbl": "Intrahepatic cholestasis",
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- "definition": {
- "val": "Impairment of bile flow due to obstruction in the small bile ducts within the liver.",
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- "val": "Impaired release of bile from liver",
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- "https://orcid.org/0000-0002-6548-5200"
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- }
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- "xrefs": [
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- "val": "MSH:D002780"
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- {
- "val": "SNOMEDCT_US:4637005"
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- {
- "val": "UMLS:C0008372"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001407",
- "lbl": "Hepatic cysts",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Liver cysts"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:85057007"
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- {
- "val": "UMLS:C0267834"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001408",
- "lbl": "Bile duct proliferation",
- "meta": {
- "definition": {
- "val": "Proliferative changes of the bile ducts.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Proliferation of bile canaliculi"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:20239009"
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- {
- "val": "UMLS:C0267818"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001409",
- "lbl": "Portal hypertension",
- "meta": {
- "comments": [
- "Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg."
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- "definition": {
- "val": "Increased pressure in the portal vein.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D006975"
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- {
- "val": "SNOMEDCT_US:34742003"
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- {
- "val": "UMLS:C0020541"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001410",
- "lbl": "Decreased liver function",
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- "definition": {
- "val": "Reduced ability of the liver to perform its functions.",
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- "val": "Hepatopathy"
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- "xrefs": [
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- "val": "MSH:D008107"
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- "val": "SNOMEDCT_US:75183008"
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- "val": "UMLS:C0232744"
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- "val": "UMLS:C3279149"
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- "lbl": "Enteroviral hepatitis",
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- "definition": {
- "val": "Inflammation of the liver due to infection with enterovirus.",
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- "PMID:15056237"
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- },
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- "val": "UMLS:C1843995"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001413",
- "lbl": "Micronodular cirrhosis",
- "meta": {
- "comments": [
- "In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy."
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- "definition": {
- "val": "A type of cirrhosis characterized by the presence of small regenerative nodules.",
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- "xrefs": [
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- "val": "SNOMEDCT_US:21861000"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001414",
- "lbl": "Microvesicular hepatic steatosis",
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- "comments": [
- "This finding can be demonstrated by liver biopsy."
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- "definition": {
- "val": "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.",
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- "HPO:probinson"
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- "type": "CLASS"
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- "lbl": "X-linked recessive inheritance",
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- "val": "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001421",
- "lbl": "Abnormality of the musculature of the hand",
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- "val": "UMLS:C4025786"
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- "lbl": "obsolete Heterogeneous",
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- "val": "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.",
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- "val": "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).",
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- "lbl": "Somatic mutation",
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped upper limb muscles",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025770"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001468",
- "lbl": "Aplasia/Hypoplasia involving the musculature of the upper arm",
- "meta": {
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- "val": "2008-04-07T10:52:00Z"
- }
- ],
- "definition": {
- "val": "Absence or underdevelopment of the muscles of the upper arm.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small upper arm muscles",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped upper arm muscles",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025769"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001469",
- "lbl": "Abnormal morphology of the pelvis musculature",
- "meta": {
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- "val": "2008-04-07T10:55:00Z"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the musculature of the pelvis"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025768"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001470",
- "lbl": "Sex-limited expression",
- "meta": {
- "definition": {
- "val": "Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001471",
- "lbl": "Aplasia/Hypoplasia of the musculature of the pelvis",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-04-07T10:56:00Z"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small pelvis muscles",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped pelvis muscles",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025766"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001472",
- "lbl": "obsolete Familial predisposition",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001426"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001473",
- "lbl": "Metatarsal osteolysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
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- "val": "2008-04-17T02:38:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001866"
- }
- ],
- "definition": {
- "val": "Osteolysis involving metatarsal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Osteolysis involving metatarsal bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854614"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001474",
- "lbl": "Sclerotic scapulae",
- "meta": {
- "definition": {
- "val": "Increased density of the bony tissue of the scapula.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849263"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001475",
- "lbl": "Male-limited expression",
- "meta": {
- "definition": {
- "val": "Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025764"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001476",
- "lbl": "Delayed closure of the anterior fontanelle",
- "meta": {
- "definition": {
- "val": "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed closure of the soft spot on the skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late closure of soft spot on the skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Later than typical closing of soft spot of skull",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure anterior fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of anterior fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late closure of large anterior fontanel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent anterior fontanelle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed closure of the bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late closure of anterior fontanelle",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late closure of the bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:295091000119100"
- },
- {
- "val": "UMLS:C3840083"
- },
- {
- "val": "UMLS:C4072831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001477",
- "lbl": "Compensatory chin elevation",
- "meta": {
- "definition": {
- "val": "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Compensatory head tilt/chin elevation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846911"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001480",
- "lbl": "Freckling",
- "meta": {
- "definition": {
- "val": "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Freckling"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008548"
- },
- {
- "val": "SNOMEDCT_US:403536009"
- },
- {
- "val": "SNOMEDCT_US:699225003"
- },
- {
- "val": "UMLS:C0016689"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001482",
- "lbl": "Subcutaneous nodule",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005903"
- }
- ],
- "comments": [
- "Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below."
- ],
- "definition": {
- "val": "Slightly elevated lesions on or in the skin with a diameter of over 5 mm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Subcutaneous nodules"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nodule below the skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Firm lump under the skin",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth of abnormal tissue under the skin",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Multiple, subcutaneous nodules"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95325000"
- },
- {
- "val": "UMLS:C0151811"
- },
- {
- "val": "UMLS:C0746926"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001483",
- "lbl": "Eye poking",
- "meta": {
- "comments": [
- "Eye poking is usually observed in children with an intellectual and visual handicap."
- ],
- "definition": {
- "val": "Repetitive pressing, poking, and/or rubbing in the eyes.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8881355"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ocular auto-stimulation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oculodigital phenomenon"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:78894008"
- },
- {
- "val": "UMLS:C0233593"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001487",
- "lbl": "obsolete Hypopigmented fundi",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007894"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001488",
- "lbl": "Bilateral ptosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Drooping of both upper eyelids",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865916"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001489",
- "lbl": "Posterior vitreous detachment",
- "meta": {
- "comments": [
- "The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment."
- ],
- "definition": {
- "val": "Separation of the vitreous humor from the retina.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24376338"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Vitreous detachment"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020255"
- },
- {
- "val": "SNOMEDCT_US:247081001"
- },
- {
- "val": "UMLS:C0423361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001491",
- "lbl": "Congenital fibrosis of extraocular muscles",
- "meta": {
- "definition": {
- "val": "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "CFEOM",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital fibrosis of the extraocular muscles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital ophthalmoplegia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463",
- "http://www.omim.org/entry/135700"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C580012"
- },
- {
- "val": "SNOMEDCT_US:400946004"
- },
- {
- "val": "UMLS:C1302995"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001492",
- "lbl": "Axenfeld anomaly",
- "meta": {
- "definition": {
- "val": "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:C535679"
- },
- {
- "val": "SNOMEDCT_US:204152008"
- },
- {
- "val": "UMLS:C0266548"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001493",
- "lbl": "Falciform retinal fold",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008013"
- }
- ],
- "definition": {
- "val": "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital retinal fold"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204181009"
- },
- {
- "val": "UMLS:C0344550"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001495",
- "lbl": "Carpal osteolysis",
- "meta": {
- "definition": {
- "val": "Osteolysis affecting carpal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Carpal bone osteolysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833734"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001498",
- "lbl": "Carpal bone hypoplasia",
- "meta": {
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- "val": "HP:0001209"
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- "val": "HP:0006029"
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- {
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- "val": "HP:0006072"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006117"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006130"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006227"
- }
- ],
- "definition": {
- "val": "Underdevelopment of one or more carpal bones.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small carpals"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic carpal bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863749"
- },
- {
- "val": "UMLS:C4280594"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001500",
- "lbl": "Broad finger",
- "meta": {
- "basicPropertyValues": [
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- "comments": [
- "Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify \"Broad fingers, F1-5\" instead of separately specifying \"Broad thumb\" and \"Broad fingers F2-5\"."
- ],
- "definition": {
- "val": "Increased width of a non-thumb digit of the hand.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad finger"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad fingers"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide fingers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844906"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001501",
- "lbl": "6 metacarpals",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "6 long bones of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861360"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001504",
- "lbl": "Metacarpal osteolysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Metacarpals osteolysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854610"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001507",
- "lbl": "Growth abnormality",
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- "basicPropertyValues": [
- {
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- "val": "HP:0008904"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal growth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth issue"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0262361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001508",
- "lbl": "Failure to thrive",
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- "val": "HP:0008916"
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- ],
- "comments": [
- "Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile)."
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- "definition": {
- "val": "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Undergrowth"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor weight gain"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Faltering weight",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weight faltering",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postnatal failure to thrive"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:36440009"
- },
- {
- "val": "SNOMEDCT_US:432788009"
- },
- {
- "val": "UMLS:C0231246"
- },
- {
- "val": "UMLS:C2315100"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001510",
- "lbl": "Growth delay",
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- "val": "HP:0001512"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001514"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001517"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001532"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008847"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008870"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008886"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008893"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008926"
- }
- ],
- "comments": [
- "Poor or abnormally slow gains in weight or height in a child."
- ],
- "definition": {
- "val": "A deficiency or slowing down of growth pre- and postnatally.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed growth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth delay"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth failure"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Growth retardation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor growth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retarded growth"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Very poor growth",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:276617005"
- },
- {
- "val": "SNOMEDCT_US:444896005"
- },
- {
- "val": "SNOMEDCT_US:59576002"
- },
- {
- "val": "UMLS:C0151686"
- },
- {
- "val": "UMLS:C0456070"
- },
- {
- "val": "UMLS:C0878787"
- },
- {
- "val": "UMLS:C1837385"
- },
- {
- "val": "UMLS:C3552463"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001511",
- "lbl": "Intrauterine growth retardation",
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- "val": "HP:0008862"
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- "val": "HP:0008892"
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- "val": "HP:0008931"
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- ],
- "comments": [
- "Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus."
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- "definition": {
- "val": "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prenatal growth deficiency"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prenatal growth retardation"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "IUGR",
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- "HPO:skoehler"
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- },
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- "pred": "hasExactSynonym",
- "val": "In utero growth retardation"
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- "pred": "hasExactSynonym",
- "val": "Intrauterine growth failure"
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- "pred": "hasExactSynonym",
- "val": "Intrauterine growth restriction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intrauterine growth retardation, IUGR"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intrauterine retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prenatal growth failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prenatal onset growth retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prenatal-onset growth retardation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small for gestational age infant"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005317"
- },
- {
- "val": "MSH:D007236"
- },
- {
- "val": "SNOMEDCT_US:199612005"
- },
- {
- "val": "SNOMEDCT_US:22033007"
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- {
- "val": "UMLS:C0015934"
- },
- {
- "val": "UMLS:C0021296"
- },
- {
- "val": "UMLS:C1386048"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001513",
- "lbl": "Obesity",
- "meta": {
- "definition": {
- "val": "Accumulation of substantial excess body fat."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Obesity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Having too much body fat",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009765"
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- "val": "SNOMEDCT_US:414915002"
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- {
- "val": "SNOMEDCT_US:414916001"
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- "val": "UMLS:C0028754"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001518",
- "lbl": "Small for gestational age",
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- "val": "HP:0001422"
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- "val": "HP:0008849"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008919"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008927"
- }
- ],
- "definition": {
- "val": "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.",
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- "DDD:hfirth"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Birth weight less than 10th percentile"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low birth weight"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small for gestational age"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007230"
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- {
- "val": "SNOMEDCT_US:267258002"
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- {
- "val": "SNOMEDCT_US:276610007"
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- {
- "val": "UMLS:C0024032"
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- {
- "val": "UMLS:C0235991"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001519",
- "lbl": "Disproportionate tall stature",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008864"
- }
- ],
- "definition": {
- "val": "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.",
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- "DDD:hfirth",
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dolichostenomelia"
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- {
- "pred": "hasExactSynonym",
- "val": "Marfanoid body habitus"
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- {
- "pred": "hasExactSynonym",
- "val": "Marfanoid habitus"
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- {
- "pred": "hasExactSynonym",
- "val": "Reduced upper-lower segment ratio"
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- ],
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- "val": "MSH:D054119"
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- {
- "val": "SNOMEDCT_US:62250003"
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- "val": "UMLS:C0003706"
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- "val": "UMLS:C1836996"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001520",
- "lbl": "Large for gestational age",
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- "comments": [
- "Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate."
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- "definition": {
- "val": "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.",
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- },
- "synonyms": [
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- "val": "Birth weight > 90th percentile"
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- "pred": "hasExactSynonym",
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- "val": "Birthweight > 90th percentile"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal macrosomia"
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- {
- "pred": "hasExactSynonym",
- "val": "Fetal macrosomia"
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- {
- "pred": "hasExactSynonym",
- "val": "Macrosomia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrosomia, neonatal",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848395"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001522",
- "lbl": "Death in infancy",
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- "definition": {
- "val": "Death within the first 24 months of life.",
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- },
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- "val": "Death in infancy"
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- {
- "pred": "hasExactSynonym",
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- "val": "Infantile death"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lethal in infancy"
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- {
- "pred": "hasRelatedSynonym",
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- "xrefs": [
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- "val": "UMLS:C1844947"
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- {
- "val": "UMLS:C1858430"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001525",
- "lbl": "Severe failure to thrive",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Severe weight faltering",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Marked failure to thrive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Severe postnatal failure to thrive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855514"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001528",
- "lbl": "Hemihypertrophy",
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- ],
- "definition": {
- "val": "Overgrowth of only one side of the body.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Asymmetric overgrowth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Asymmetric limb hypertrophy"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205838004"
- },
- {
- "val": "SNOMEDCT_US:56007004"
- },
- {
- "val": "UMLS:C0332890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001530",
- "lbl": "Mild postnatal growth retardation",
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- "val": "HP:0008917"
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- ],
- "definition": {
- "val": "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.",
- "xrefs": [
- "DDD:hfirth"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mild growth deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postnatal onset of mild growth retardation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835580"
- },
- {
- "val": "UMLS:C3550204"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001531",
- "lbl": "Failure to thrive in infancy",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0008863"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008925"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Faltering weight in infancy",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weight faltering in infancy",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure to thrive in first year of life"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001533",
- "lbl": "Slender build",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001529"
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- ],
- "comments": [
- "Slender, long-limbed habitus."
- ],
- "definition": {
- "val": "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender build"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin build",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Asthenic habitus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin body habitus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001537",
- "lbl": "Umbilical hernia",
- "meta": {
- "definition": {
- "val": "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Umbilical hernias"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4445"
- },
- {
- "val": "SNOMEDCT_US:396347007"
- },
- {
- "val": "UMLS:C0019322"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001538",
- "lbl": "Protuberant abdomen",
- "meta": {
- "definition": {
- "val": "A thrusting or bulging out of the abdomen.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Belly sticks out",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extended belly",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abdominal protuberance"
- }
- ],
- "xrefs": [
- {
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- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001539",
- "lbl": "Omphalocele",
- "meta": {
- "definition": {
- "val": "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Exomphalos"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Omphalocoele"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4404"
- },
- {
- "val": "MEDDRA:10030309"
- },
- {
- "val": "MSH:D006554"
- },
- {
- "val": "SNOMEDCT_US:18735004"
- },
- {
- "val": "UMLS:C0795690"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001540",
- "lbl": "Diastasis recti",
- "meta": {
- "comments": [
- "Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns."
- ],
- "definition": {
- "val": "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between large left and right abdominal muscles",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:62629000"
- },
- {
- "val": "UMLS:C0221766"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001541",
- "lbl": "Ascites",
- "meta": {
- "comments": [
- "Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels."
- ],
- "definition": {
- "val": "Accumulation of fluid in the peritoneal cavity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accumulation of fluid in the abdomen"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001201"
- },
- {
- "val": "SNOMEDCT_US:389026000"
- },
- {
- "val": "UMLS:C0003962"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001543",
- "lbl": "Gastroschisis",
- "meta": {
- "definition": {
- "val": "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10018046"
- },
- {
- "val": "MSH:D020139"
- },
- {
- "val": "SNOMEDCT_US:72951007"
- },
- {
- "val": "UMLS:C0265706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001544",
- "lbl": "Prominent umbilicus",
- "meta": {
- "definition": {
- "val": "Abnormally prominent umbilicus (belly button).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent belly button",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent navel",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837795"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001545",
- "lbl": "Anteriorly placed anus",
- "meta": {
- "definition": {
- "val": "Anterior malposition of the anus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anteriorly displaced anus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anus anteposition"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838705"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001547",
- "lbl": "Abnormal rib cage morphology",
- "meta": {
- "definition": {
- "val": "A morphological anomaly of the rib cage.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the rib cage"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025763"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001548",
- "lbl": "Overgrowth",
- "meta": {
- "definition": {
- "val": "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "General overgrowth"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised overgrowth"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Generalized overgrowth",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849265"
- },
- {
- "val": "UMLS:C1851731"
- },
- {
- "val": "UMLS:C3150281"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001549",
- "lbl": "Abnormal ileum morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-20T11:05:00Z"
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- ],
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the ileum"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025762"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001551",
- "lbl": "Abnormal umbilicus morphology",
- "meta": {
- "comments": [
- "The umbilicus is also known as the belly button or the navel."
- ],
- "definition": {
- "val": "An abnormality of the structure or appearance of the umbilicus.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal belly button",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal navel",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal umbilicus"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1849338"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001552",
- "lbl": "Barrel-shaped chest",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000781"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001553"
- }
- ],
- "comments": [
- "Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease."
- ],
- "definition": {
- "val": "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.",
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- "HPO:probinson"
- ]
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- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Barrel chest"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Barrel-shaped chest"
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- "xrefs": [
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- "val": "SNOMEDCT_US:24228002"
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- "val": "UMLS:C0264172"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001555",
- "lbl": "Asymmetry of the thorax",
- "meta": {
- "definition": {
- "val": "Lack of symmetry between the left and right halves of the thorax.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Asymmetric chest"
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- "xrefs": [
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- "val": "UMLS:C1858033"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001557",
- "lbl": "Prenatal movement abnormality",
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- "val": "HP:0007629"
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- ],
- "comments": [
- "Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'."
- ],
- "definition": {
- "val": "An abnormality of fetal movement.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal intrauterine movements"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849510"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001558",
- "lbl": "Decreased fetal movement",
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- "val": "HP:0001559"
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- "val": "HP:0006840"
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- "definition": {
- "val": "An abnormal reduction in quantity or strength of fetal movements.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased foetal activity"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased foetal movement"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased foetal movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal hypokinesia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Less than 10 foetal movements in 12 hours"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Reduced foetal movement"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Reduced foetal movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Less than 10 fetal movements in 12 hours",
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- "PMID:2729383"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased fetal activity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased fetal movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased movement in utero"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dminished fetal movement"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fetal hypokinesia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced fetal movement"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced fetal movements"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:276369006"
- },
- {
- "val": "UMLS:C0235659"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001560",
- "lbl": "Abnormality of the amniotic fluid",
- "meta": {
- "definition": {
- "val": "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal amniotic fluid"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:42170009"
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- {
- "val": "UMLS:C0266781"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001561",
- "lbl": "Polyhydramnios",
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- "Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age."
- ],
- "definition": {
- "val": "The presence of excess amniotic fluid in the uterus during pregnancy.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High levels of amniotic fluid",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hydramnios"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Increased amniotic fluid index"
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- ],
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- "val": "MSH:D006831"
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- {
- "val": "SNOMEDCT_US:86203003"
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- {
- "val": "UMLS:C0020224"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001562",
- "lbl": "Oligohydramnios",
- "meta": {
- "basicPropertyValues": [
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- "comments": [
- "Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm."
- ],
- "definition": {
- "val": "Diminished amniotic fluid volume in pregnancy.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low levels of amniotic fluid",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Maternal oligohydramnios"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Decreased amniotic fluid index"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016104"
- },
- {
- "val": "SNOMEDCT_US:59566000"
- },
- {
- "val": "UMLS:C0079924"
- },
- {
- "val": "UMLS:C3550658"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001563",
- "lbl": "Fetal polyuria",
- "meta": {
- "comments": [
- "The fetal urine production rate can be measured by ultrasonography."
- ],
- "definition": {
- "val": "Abnormally increased production of urine by the fetus resulting in polyhydramnios.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21460147"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal polyuria"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865279"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001566",
- "lbl": "Widely-spaced maxillary central incisors",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000669"
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- "val": "HP:0001570"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006300"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006324"
- }
- ],
- "definition": {
- "val": "Increased distance between the maxillary central permanent incisor tooth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Central incisor gap"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide gap between upper central incisors"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced upper incisors"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diastasis of the central incisors"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Separated superior central incisors"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide upper central incisors"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Diastema between maxillary central incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Diastema between upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Diastema between upper incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835762"
- },
- {
- "val": "UMLS:C1845110"
- },
- {
- "val": "UMLS:C4280252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001571",
- "lbl": "Multiple impacted teeth",
- "meta": {
- "definition": {
- "val": "The presence of multiple impacted teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impacted teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple impacted teeth"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple buried teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Multiple retained teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839965"
- },
- {
- "val": "UMLS:C4280593"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001572",
- "lbl": "Macrodontia",
- "meta": {
- "comments": [
- "The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased."
- ],
- "definition": {
- "val": "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large tooth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased width of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tooth mass excess",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megalodontia"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hyperplasia of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:71485000"
- },
- {
- "val": "UMLS:C0266036"
- },
- {
- "val": "UMLS:C4280590"
- },
- {
- "val": "UMLS:C4280591"
- },
- {
- "val": "UMLS:C4280592"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001574",
- "lbl": "Abnormality of the integument",
- "meta": {
- "comments": [
- "Abnormality of skin, hair, or nails."
- ],
- "definition": {
- "val": "An abnormality of the integument, which consists of the skin and the superficial fascia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001575",
- "lbl": "obsolete Mood changes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000712"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001579",
- "lbl": "Primary hypercortisolism",
- "meta": {
- "definition": {
- "val": "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "ACTH-independent hypercortisolemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968852"
- },
- {
- "val": "UMLS:C4025760"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001580",
- "lbl": "Pigmented micronodular adrenocortical disease",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968851"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001581",
- "lbl": "Recurrent skin infections",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007563"
- }
- ],
- "definition": {
- "val": "Infections of the skin that happen multiple times.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent skin infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous infections"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853193"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001582",
- "lbl": "Redundant skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007391"
- }
- ],
- "definition": {
- "val": "Loose and sagging skin often associated with loss of skin elasticity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loose redundant skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Redundant skin folds"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sagging, redundant skin"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:201093004"
- },
- {
- "val": "UMLS:C0581342"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001583",
- "lbl": "Rotary nystagmus",
- "meta": {
- "definition": {
- "val": "A form of nystagmus in which the eyeball makes rotary motions around the axis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Rotatory Nystagmus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009759"
- },
- {
- "val": "SNOMEDCT_US:44526006"
- },
- {
- "val": "SNOMEDCT_US:95783006"
- },
- {
- "val": "UMLS:C0240595"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001586",
- "lbl": "Vesicovaginal fistula",
- "meta": {
- "definition": {
- "val": "The presence of a fistula connecting the urinary bladder to the vagina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D014719"
- },
- {
- "val": "SNOMEDCT_US:89405008"
- },
- {
- "val": "UMLS:C0042582"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001587",
- "lbl": "obsolete Primary ovarian failure",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001591",
- "lbl": "Bell-shaped thorax",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0006626"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006664"
- }
- ],
- "comments": [
- "A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities."
- ],
- "definition": {
- "val": "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bell-shaped chest"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Constricted, bell-shaped thorax"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow, bell-shaped thorax"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865186"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001592",
- "lbl": "Selective tooth agenesis",
- "meta": {
- "definition": {
- "val": "Agenesis specifically affecting one of the classes incisor, premolar, or molar.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of a tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing a tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of a tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of a tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1970308"
- },
- {
- "val": "UMLS:C4280251"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001593",
- "lbl": "Maxillary lateral incisor microdontia",
- "meta": {
- "definition": {
- "val": "Decreased size of the maxillary permanent incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Decreased size of maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decreased size of upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypotrophic maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypotrophic upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Small maxillary lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Small upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of upper lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845111"
- },
- {
- "val": "UMLS:C4280588"
- },
- {
- "val": "UMLS:C4280589"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001595",
- "lbl": "Abnormal hair morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hair abnormality"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the hair shaft",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0157733"
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- {
- "val": "UMLS:C2677869"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001596",
- "lbl": "Alopecia",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008068"
- }
- ],
- "definition": {
- "val": "A noncongenital process of hair loss, which may progress to partial or complete baldness.",
- "xrefs": [
- "PMID:14676077"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hair loss"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10001760"
- },
- {
- "val": "MSH:D000505"
- },
- {
- "val": "SNOMEDCT_US:278040002"
- },
- {
- "val": "SNOMEDCT_US:56317004"
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- {
- "val": "UMLS:C0002170"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001597",
- "lbl": "Abnormality of the nail",
- "meta": {
- "comments": [
- "Abnormality of the fingernails and/or toenails."
- ],
- "definition": {
- "val": "Abnormality of the nail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nail"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nail disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009260"
- },
- {
- "val": "MSH:D009264"
- },
- {
- "val": "SNOMEDCT_US:17790008"
- },
- {
- "val": "UMLS:C0027339"
- },
- {
- "val": "UMLS:C0853087"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001598",
- "lbl": "Concave nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001815"
- }
- ],
- "comments": [
- "Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave."
- ],
- "definition": {
- "val": "The natural longitudinal (posterodistal) convex arch is not present or is inverted.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spoon-shaped nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Koilonychia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:66270006"
- },
- {
- "val": "UMLS:C0221261"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001600",
- "lbl": "Abnormality of the larynx",
- "meta": {
- "definition": {
- "val": "An abnormality of the larynx.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Laryngeal abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Laryngeal anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021777"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001601",
- "lbl": "Laryngomalacia",
- "meta": {
- "comments": [
- "Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor."
- ],
- "definition": {
- "val": "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Softening of voice box tissue",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D055092"
- },
- {
- "val": "SNOMEDCT_US:38086007"
- },
- {
- "val": "UMLS:C0264303"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001602",
- "lbl": "Laryngeal stenosis",
- "meta": {
- "definition": {
- "val": "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D007829"
- },
- {
- "val": "SNOMEDCT_US:75547007"
- },
- {
- "val": "UMLS:C0023075"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001604",
- "lbl": "Vocal cord paresis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001603"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001616"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008745"
- }
- ],
- "comments": [
- "Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat."
- ],
- "definition": {
- "val": "Decreased strength of the vocal folds.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weakness of the vocal cords"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hoarse voice due to vocal cord paresis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vocal cord paresis in severe cases"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014826"
- },
- {
- "val": "SNOMEDCT_US:302912005"
- },
- {
- "val": "SNOMEDCT_US:445424004"
- },
- {
- "val": "UMLS:C0751576"
- },
- {
- "val": "UMLS:C1832690"
- },
- {
- "val": "UMLS:C1843187"
- },
- {
- "val": "UMLS:C1853729"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001605",
- "lbl": "Vocal cord paralysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001606"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006847"
- }
- ],
- "comments": [
- "Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties."
- ],
- "definition": {
- "val": "A loss of the ability to move the vocal folds.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to move vocal cords",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Laryngeal paralysis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014826"
- },
- {
- "val": "SNOMEDCT_US:302912005"
- },
- {
- "val": "UMLS:C0042928"
- },
- {
- "val": "UMLS:C1854345"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001606",
- "lbl": "obsolete Vocal cord paralysis (caused by tumor impingement)",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001605"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001607",
- "lbl": "Subglottic stenosis",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:22668006"
- },
- {
- "val": "UMLS:C0238441"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001608",
- "lbl": "Abnormality of the voice",
- "meta": {
- "comments": [
- "This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the voice"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Voice abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021776"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001609",
- "lbl": "Hoarse voice",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001613"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001619"
- }
- ],
- "definition": {
- "val": "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hoarse voice"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hoarseness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Husky voice"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006685"
- },
- {
- "val": "SNOMEDCT_US:50219008"
- },
- {
- "val": "UMLS:C0019825"
- },
- {
- "val": "UMLS:C1854348"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001611",
- "lbl": "Nasal speech",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001614"
- }
- ],
- "comments": [
- "May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy."
- ],
- "definition": {
- "val": "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal speech"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal voice"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypernasal speech"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypernasal voice"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:229645001"
- },
- {
- "val": "SNOMEDCT_US:289190003"
- },
- {
- "val": "UMLS:C0454555"
- },
- {
- "val": "UMLS:C0566620"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001612",
- "lbl": "Weak cry",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:2120003"
- },
- {
- "val": "UMLS:C0234860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001613",
- "lbl": "obsolete Hoarse voice (caused by tumor impingement)",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001609"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001615",
- "lbl": "Hoarse cry",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hoarse cry"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2678303"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001618",
- "lbl": "Dysphonia",
- "meta": {
- "definition": {
- "val": "An impairment in the ability to produce voice sounds.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Voice change"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to produce voice sounds",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D055154"
- },
- {
- "val": "SNOMEDCT_US:47004009"
- },
- {
- "val": "UMLS:C1527344"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001620",
- "lbl": "High pitched voice",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001610"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008374"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008377"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008378"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008379"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009146"
- }
- ],
- "definition": {
- "val": "An abnormal increase in the pitch (frequency) of the voice.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High pitched voice"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High-pitched voice"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:51406002"
- },
- {
- "val": "UMLS:C0241703"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001621",
- "lbl": "Weak voice",
- "meta": {
- "comments": [
- "Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization."
- ],
- "definition": {
- "val": "Reduced intensity (volume) of speech.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Soft voice"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weak voice"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Quiet voice"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypophonia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014832"
- },
- {
- "val": "SNOMEDCT_US:34527004"
- },
- {
- "val": "SNOMEDCT_US:8614008"
- },
- {
- "val": "UMLS:C0241700"
- },
- {
- "val": "UMLS:C0521007"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001622",
- "lbl": "Premature birth",
- "meta": {
- "definition": {
- "val": "The birth of a baby of less than 37 weeks of gestational age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature birth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature delivery of affected infants"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Preterm delivery"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature delivery"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preterm birth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortened gestation time"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D047928"
- },
- {
- "val": "SNOMEDCT_US:282020008"
- },
- {
- "val": "SNOMEDCT_US:367494004"
- },
- {
- "val": "SNOMEDCT_US:49550006"
- },
- {
- "val": "UMLS:C0151526"
- },
- {
- "val": "UMLS:C0233315"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001623",
- "lbl": "Breech presentation",
- "meta": {
- "definition": {
- "val": "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Feet or buttocks of foetus positioned near opening of uterus"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Feet or buttocks of fetus positioned near opening of uterus",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Breech presentation at birth"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001946"
- },
- {
- "val": "SNOMEDCT_US:249101006"
- },
- {
- "val": "SNOMEDCT_US:6096002"
- },
- {
- "val": "UMLS:C0006157"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001626",
- "lbl": "Abnormality of the cardiovascular system",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003116"
- }
- ],
- "comments": [
- "The cardiovascular system consists of the heart, vasculature, and the lymphatic system."
- ],
- "definition": {
- "val": "Any abnormality of the cardiovascular system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the cardiovascular system"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cardiovascular abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cardiovascular disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002318"
- },
- {
- "val": "MSH:D018376"
- },
- {
- "val": "SNOMEDCT_US:49601007"
- },
- {
- "val": "UMLS:C0007222"
- },
- {
- "val": "UMLS:C0243050"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001627",
- "lbl": "Abnormal heart morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:3000001"
- }
- ],
- "definition": {
- "val": "Any structural anomaly of the heart.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the heart"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heart defect"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally shaped heart",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cardiac morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cardiac abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cardiac anomalies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cardiac anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital heart defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital heart defects"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006330"
- },
- {
- "val": "SNOMEDCT_US:13213009"
- },
- {
- "val": "UMLS:C0018798"
- },
- {
- "val": "UMLS:C0152021"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001629",
- "lbl": "Ventricular septal defect",
- "meta": {
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- "val": "HP:0001652"
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- "definition": {
- "val": "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:33327983"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "VSD"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Hole in heart wall separating two lower heart chambers",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Ventricular septal defects"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ventriculoseptal defect"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1300"
- },
- {
- "val": "MSH:D006345"
- },
- {
- "val": "SNOMEDCT_US:253549006"
- },
- {
- "val": "SNOMEDCT_US:30288003"
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- "val": "UMLS:C0018818"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001631",
- "lbl": "Atrial septal defect",
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- ],
- "definition": {
- "val": "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.",
- "xrefs": [
- "DDD:dbrown",
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "ASD",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "An opening in the wall separating the top two chambers of the heart",
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- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hole in heart wall separating two upper heart chambers",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atria septal defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrial septum defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrioseptal defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Defect in the atrial septum"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:2050"
- },
- {
- "val": "ICD-10:Q21.1"
- },
- {
- "val": "MSH:D006344"
- },
- {
- "val": "SNOMEDCT_US:253366007"
- },
- {
- "val": "SNOMEDCT_US:405752007"
- },
- {
- "val": "SNOMEDCT_US:70142008"
- },
- {
- "val": "UMLS:C0018817"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001633",
- "lbl": "Abnormal mitral valve morphology",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0031477"
- }
- ],
- "definition": {
- "val": "Any structural anomaly of the mitral valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the mitral valve"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025759"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001634",
- "lbl": "Mitral valve prolapse",
- "meta": {
- "comments": [
- "Mitral valve prolapse can be associated with mitral regurgitation."
- ],
- "definition": {
- "val": "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "Fyler:1533"
- },
- {
- "val": "MSH:D008945"
- },
- {
- "val": "SNOMEDCT_US:409712001"
- },
- {
- "val": "SNOMEDCT_US:8074002"
- },
- {
- "val": "UMLS:C0026267"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001635",
- "lbl": "Congestive heart failure",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006686"
- }
- ],
- "definition": {
- "val": "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "CHF"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cardiac failure"
- },
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- "pred": "hasExactSynonym",
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- "val": "Heart failure"
- },
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cardiac failures",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cardiac insufficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chronic heart failure"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006333"
- },
- {
- "val": "SNOMEDCT_US:42343007"
- },
- {
- "val": "SNOMEDCT_US:84114007"
- },
- {
- "val": "UMLS:C0018801"
- },
- {
- "val": "UMLS:C0018802"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001636",
- "lbl": "Tetralogy of Fallot",
- "meta": {
- "definition": {
- "val": "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.",
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- "HPO:probinson"
- ]
- },
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- "pred": "hasExactSynonym",
- "val": "Tetrology of fallot"
- }
- ],
- "xrefs": [
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- "val": "ICD-10:Q21.3"
- },
- {
- "val": "MSH:D013771"
- },
- {
- "val": "SNOMEDCT_US:86299006"
- },
- {
- "val": "UMLS:C0039685"
- }
- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001637",
- "lbl": "Abnormal myocardium morphology",
- "meta": {
- "definition": {
- "val": "A structural anomaly of the muscle layer of the heart wall."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the myocardium"
- }
- ],
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- "val": "UMLS:C4025758"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001638",
- "lbl": "Cardiomyopathy",
- "meta": {
- "definition": {
- "val": "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17916581"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disease of the heart muscle",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
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- "val": "Fyler:1840"
- },
- {
- "val": "MSH:D009202"
- },
- {
- "val": "SNOMEDCT_US:57809008"
- },
- {
- "val": "SNOMEDCT_US:85898001"
- },
- {
- "val": "UMLS:C0878544"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001639",
- "lbl": "Hypertrophic cardiomyopathy",
- "meta": {
- "definition": {
- "val": "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.",
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- "PMID:17916581"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "HCM"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged and thickened heart muscle",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cardiomyopathy, hypertrophic"
- }
- ],
- "xrefs": [
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- "val": "MSH:D002312"
- },
- {
- "val": "SNOMEDCT_US:233873004"
- },
- {
- "val": "SNOMEDCT_US:45227007"
- },
- {
- "val": "UMLS:C0007194"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001640",
- "lbl": "Cardiomegaly",
- "meta": {
- "definition": {
- "val": "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.",
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- "PMID:31194436"
- ]
- },
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged heart"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased heart size",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006332"
- },
- {
- "val": "SNOMEDCT_US:8186001"
- },
- {
- "val": "UMLS:C0018800"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001641",
- "lbl": "Abnormal pulmonary valve morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the pulmonary valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the pulmonary valve"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the pulmonary valve"
- }
- ],
- "xrefs": [
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- "val": "Fyler:1600"
- },
- {
- "val": "Fyler:1602"
- },
- {
- "val": "SNOMEDCT_US:448643005"
- },
- {
- "val": "UMLS:C3164374"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001642",
- "lbl": "Pulmonic stenosis",
- "meta": {
- "comments": [
- "Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity."
- ],
- "definition": {
- "val": "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of pulmonic valve",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary valve stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonic valve stenosis"
- }
- ],
- "xrefs": [
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- "val": "Fyler:1611"
- },
- {
- "val": "MSH:D011666"
- },
- {
- "val": "SNOMEDCT_US:56786000"
- },
- {
- "val": "UMLS:C1956257"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001643",
- "lbl": "Patent ductus arteriosus",
- "meta": {
- "definition": {
- "val": "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.",
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- "HPO:probinson",
- "PMID:20421261"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "PDA"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ductus arteriosus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patent ductus Botalli"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent arterial duct"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent ductus arteriosus"
- }
- ],
- "xrefs": [
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- "val": "Fyler:2100"
- },
- {
- "val": "MSH:D004374"
- },
- {
- "val": "SNOMEDCT_US:83330001"
- },
- {
- "val": "UMLS:C0013274"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001644",
- "lbl": "Dilated cardiomyopathy",
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- "definition": {
- "val": "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.",
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- "val": "Stretched and thinned heart muscle",
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- ]
- },
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- "pred": "hasExactSynonym",
- "val": "Cardiomyopathy, dilated"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congestive cardiomyopathy"
- }
- ],
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- "val": "Fyler:1843"
- },
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- "val": "MSH:D002311"
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- "val": "SNOMEDCT_US:195021004"
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- "val": "SNOMEDCT_US:399020009"
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- "val": "UMLS:C0007193"
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- ]
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0001645",
- "lbl": "Sudden cardiac death",
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- ],
- "definition": {
- "val": "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Premature sudden cardiac death"
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- "val": "Sudden cardiac death"
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- "val": "MSH:D016757"
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- "val": "SNOMEDCT_US:95281009"
- },
- {
- "val": "UMLS:C0085298"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001646",
- "lbl": "Abnormal aortic valve morphology",
- "meta": {
- "definition": {
- "val": "Any abnormality of the aortic valve.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the aortic valve"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1400"
- },
- {
- "val": "Fyler:1408"
- },
- {
- "val": "SNOMEDCT_US:448743001"
- },
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- "val": "UMLS:C3164445"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001647",
- "lbl": "Bicuspid aortic valve",
- "meta": {
- "comments": [
- "A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]."
- ],
- "definition": {
- "val": "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).",
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- "PMID:17467434",
- "PMID:24827036"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Aortic valve has two leaflets rather than three",
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- "orcid.org/0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562388"
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- {
- "val": "SNOMEDCT_US:72352009"
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- {
- "val": "UMLS:C0149630"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001648",
- "lbl": "Cor pulmonale",
- "meta": {
- "comments": [
- "Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy."
- ],
- "definition": {
- "val": "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D011660"
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- {
- "val": "SNOMEDCT_US:274096000"
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- {
- "val": "SNOMEDCT_US:83291003"
- },
- {
- "val": "UMLS:C0034072"
- }
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001649",
- "lbl": "Tachycardia",
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- "definition": {
- "val": "A rapid heartrate that exceeds the range of the normal resting heartrate for age.",
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- "val": "Heart racing"
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- "val": "Racing heart"
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- "val": "Elevated heart rate"
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- "val": "Increased heart rate"
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- "val": "Rapid heart beat"
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- "val": "MSH:D013610"
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- "val": "SNOMEDCT_US:3424008"
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- "val": "SNOMEDCT_US:86651002"
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- "val": "UMLS:C0039231"
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- "val": "UMLS:C4020868"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001650",
- "lbl": "Aortic valve stenosis",
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- "comments": [
- "Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance."
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- "definition": {
- "val": "The presence of a stenosis (narrowing) of the aortic valve.",
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- "pred": "hasExactSynonym",
- "val": "Aortic stenosis"
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- "pred": "hasExactSynonym",
- "val": "Valvular aortic stenosis"
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- "val": "Fyler:1411"
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- "val": "MSH:D001024"
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- "val": "SNOMEDCT_US:60573004"
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- "val": "UMLS:C0003507"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001651",
- "lbl": "Dextrocardia",
- "meta": {
- "definition": {
- "val": "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.",
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- "DDD:dbrown",
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- "pred": "hasExactSynonym",
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- "val": "Heart tip and four chambers point towards right side of body",
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Thoracic situs inversus"
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- ],
- "xrefs": [
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- "val": "EPCC:02.01.02"
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- {
- "val": "Fyler:0110"
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- {
- "val": "Fyler:110"
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- {
- "val": "ICD-10:Q24.0"
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- {
- "val": "MSH:D003914"
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- "val": "SNOMEDCT_US:27637000"
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- "val": "UMLS:C0011813"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001653",
- "lbl": "Mitral regurgitation",
- "meta": {
- "definition": {
- "val": "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Mitral incompetence"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mitral insufficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mitral valve insufficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mitral valve regurgitation"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Mitral regurgitation, mild"
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- ],
- "xrefs": [
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- "val": "Fyler:1151"
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- "val": "MSH:D008944"
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- "val": "SNOMEDCT_US:48724000"
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- {
- "val": "UMLS:C0026266"
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- "val": "UMLS:C3551535"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001654",
- "lbl": "Abnormal heart valve morphology",
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- "definition": {
- "val": "Any structural abnormality of a cardiac valve.",
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- },
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the heart valves"
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- "pred": "hasExactSynonym",
- "val": "Valvular abnormality"
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- "pred": "hasRelatedSynonym",
- "val": "Valvular heart disease"
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- "val": "MSH:D006349"
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- "val": "SNOMEDCT_US:368009"
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- "val": "UMLS:C0018824"
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- "val": "UMLS:C0241654"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001655",
- "lbl": "Patent foramen ovale",
- "meta": {
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- "The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut."
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- "definition": {
- "val": "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.",
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- "DDD:dbrown",
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- "pred": "hasExactSynonym",
- "val": "Persistent foramen ovale"
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- "val": "Fyler:2020"
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- "val": "ICD-10:Q21.1"
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- "val": "MSH:D054092"
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- "val": "SNOMEDCT_US:204317008"
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- "val": "UMLS:C0016522"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001657",
- "lbl": "Prolonged QT interval",
- "meta": {
- "comments": [
- "The QT interval represents electrical depolarization and repolarization of the left and right ventricles."
- ],
- "definition": {
- "val": "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).",
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- "pred": "hasExactSynonym",
- "val": "Long QT syndrome"
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- "pred": "hasExactSynonym",
- "val": "Prolong qt interval on ekg"
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- "pred": "hasRelatedSynonym",
- "val": "Long Q-T syndrome"
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- "val": "SNOMEDCT_US:111975006"
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- "val": "UMLS:C0151878"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001658",
- "lbl": "Myocardial infarction",
- "meta": {
- "definition": {
- "val": "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Heart attack",
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- "val": "MSH:D009203"
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- "val": "SNOMEDCT_US:22298006"
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- "val": "UMLS:C0027051"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001659",
- "lbl": "Aortic regurgitation",
- "meta": {
- "definition": {
- "val": "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Aortic insufficiency"
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- {
- "pred": "hasExactSynonym",
- "val": "Aortic valve regurgitation"
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- ],
- "xrefs": [
- {
- "val": "MSH:D001022"
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- {
- "val": "SNOMEDCT_US:60234000"
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- {
- "val": "UMLS:C0003504"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001660",
- "lbl": "Truncus arteriosus",
- "meta": {
- "definition": {
- "val": "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.",
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- "DDD:dbrown",
- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
- "val": "Common arterial trunk"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Persistant truncus arteriosus"
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- "val": "Fyler:0500"
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- "val": "Fyler:500"
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- {
- "val": "ICD-10:Q20.0"
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- "val": "MSH:D014338"
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- "val": "SNOMEDCT_US:58140002"
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- "val": "UMLS:C0041206"
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- "val": "UMLS:C4020867"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001662",
- "lbl": "Bradycardia",
- "meta": {
- "definition": {
- "val": "A slower than normal heart rate (in adults, slower than 60 beats per minute).",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow heartbeats"
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- {
- "pred": "hasExactSynonym",
- "val": "Brachycardia"
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- ],
- "xrefs": [
- {
- "val": "MSH:D001919"
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- {
- "val": "SNOMEDCT_US:48867003"
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- {
- "val": "UMLS:C0428977"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001663",
- "lbl": "Ventricular fibrillation",
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- "definition": {
- "val": "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.",
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- "HPO:probinson"
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- "val": "MSH:D014693"
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- "val": "SNOMEDCT_US:71908006"
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- "val": "UMLS:C0042510"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001664",
- "lbl": "Torsade de pointes",
- "meta": {
- "definition": {
- "val": "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
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- "val": "MSH:D016171"
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- "val": "SNOMEDCT_US:31722008"
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- "val": "UMLS:C0040479"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001667",
- "lbl": "Right ventricular hypertrophy",
- "meta": {
- "definition": {
- "val": "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
- "val": "Heart right ventricle hypertrophy",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
- {
- "val": "Fyler:3609"
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- {
- "val": "MSH:D017380"
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- {
- "val": "SNOMEDCT_US:89792004"
- },
- {
- "val": "UMLS:C0162770"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001669",
- "lbl": "Transposition of the great arteries",
- "meta": {
- "definition": {
- "val": "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.",
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- "HPO:probinson",
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- "val": "SNOMEDCT_US:26146002"
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- "val": "UMLS:C3536741"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001670",
- "lbl": "Asymmetric septal hypertrophy",
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- "definition": {
- "val": "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.",
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- "val": "UMLS:C0205700"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001671",
- "lbl": "Abnormal cardiac septum morphology",
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- "definition": {
- "val": "An anomaly of the intra-atrial or intraventricular septum.",
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- "val": "UMLS:C0018816"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001673",
- "lbl": "obsolete Tachycardia (with pheochromocytoma)",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001674",
- "lbl": "Complete atrioventricular canal defect",
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- ],
- "comments": [
- "The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve."
- ],
- "definition": {
- "val": "A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.",
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- "pred": "hasExactSynonym",
- "val": "Common atrioventricular canal"
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- {
- "pred": "hasExactSynonym",
- "val": "Complete atrioventricular septal defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complete common AV canal"
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- "val": "Fyler:1120"
- }
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- },
- "type": "CLASS"
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- {
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- "lbl": "obsolete Rhythm disturbances associated with pheochromocytoma",
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- "lbl": "obsolete Palpitations (with pheochromocytoma)",
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- "id": "http://purl.obolibrary.org/obo/HP_0001677",
- "lbl": "Coronary artery atherosclerosis",
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- "Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction."
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- "definition": {
- "val": "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.",
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- "val": "Coronary atherosclerosis"
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- "definition": {
- "val": "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001679",
- "lbl": "Abnormal aortic morphology",
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- "val": "An abnormality of the aorta.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001680",
- "lbl": "Coarctation of aorta",
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- "Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient."
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- "val": "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.",
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- "val": "Aortic coarctation"
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- "val": "MSH:D001017"
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- "val": "SNOMEDCT_US:7305005"
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- "val": "UMLS:C0003492"
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- "id": "http://purl.obolibrary.org/obo/HP_0001681",
- "lbl": "Angina pectoris",
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- "val": "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.",
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- "val": "SNOMEDCT_US:225566008"
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- "val": "UMLS:C0002962"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001682",
- "lbl": "Subvalvular aortic stenosis",
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- "Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta."
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- "val": "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001683",
- "lbl": "Ectopia cordis",
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- "val": "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.",
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- "val": "Fyler:170"
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- "val": "MSH:D054083"
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- "val": "UMLS:C0013580"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001684",
- "lbl": "Secundum atrial septal defect",
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- "val": "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001685",
- "lbl": "Myocardial fibrosis",
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- "comments": [
- "Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure."
- ],
- "definition": {
- "val": "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001686",
- "lbl": "Loss of voice",
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- "val": "Aphonia",
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- "type": "CLASS"
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- "lbl": "Sinus bradycardia",
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- "val": "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001691",
- "lbl": "Muscular subvalvular aortic stenosis",
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- "definition": {
- "val": "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001692",
- "lbl": "Atrial arrhythmia",
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- "definition": {
- "val": "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001693",
- "lbl": "Cardiac shunt",
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- "definition": {
- "val": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001694",
- "lbl": "Right-to-left shunt",
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- "definition": {
- "val": "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.",
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- "id": "http://purl.obolibrary.org/obo/HP_0001695",
- "lbl": "Cardiac arrest",
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- "definition": {
- "val": "An abrupt loss of heart function."
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- "val": "SNOMEDCT_US:410429000"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001696",
- "lbl": "Situs inversus totalis",
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- "definition": {
- "val": "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs.",
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- "val": "situs oppositus"
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- "lbl": "Abnormal pericardium morphology",
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- "val": "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001698",
- "lbl": "Pericardial effusion",
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- "definition": {
- "val": "Accumulation of fluid within the pericardium.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001699",
- "lbl": "Sudden death",
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- "definition": {
- "val": "Rapid and unexpected death.",
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- },
- "xrefs": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001700",
- "lbl": "Myocardial necrosis",
- "meta": {
- "definition": {
- "val": "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).",
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- "PMID:20405318"
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- "lbl": "Tricuspid valve prolapse",
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- "definition": {
- "val": "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "Fyler:1733"
- },
- {
- "val": "MSH:D014263"
- },
- {
- "val": "SNOMEDCT_US:253383003"
- },
- {
- "val": "UMLS:C0040962"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001705",
- "lbl": "Right ventricular outlet tract obstruction",
- "meta": {
- "definition": {
- "val": "An obstruction to the forward flow of blood in the outflow tract of the right ventricle.",
- "xrefs": [
- "PMID:30038501"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Right ventricular outlet obstruction"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014694"
- },
- {
- "val": "UMLS:C0035619"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001706",
- "lbl": "Endocardial fibroelastosis",
- "meta": {
- "definition": {
- "val": "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction",
- "xrefs": [
- "PMID:23109776"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004695"
- },
- {
- "val": "SNOMEDCT_US:65457005"
- },
- {
- "val": "UMLS:C0014117"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001707",
- "lbl": "Abnormal right ventricle morphology",
- "meta": {
- "comments": [
- "The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery."
- ],
- "definition": {
- "val": "An abnormality of the right ventricle of the heart.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the right ventricle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Right ventricular abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1820"
- },
- {
- "val": "SNOMEDCT_US:253516002"
- },
- {
- "val": "UMLS:C0344887"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001708",
- "lbl": "Right ventricular failure",
- "meta": {
- "definition": {
- "val": "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Impaired right ventricular function"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Right ventricular impairment"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Right-sided heart failure"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006333"
- },
- {
- "val": "SNOMEDCT_US:128404006"
- },
- {
- "val": "SNOMEDCT_US:367363000"
- },
- {
- "val": "UMLS:C0235527"
- },
- {
- "val": "UMLS:C2939447"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001709",
- "lbl": "Third degree atrioventricular block",
- "meta": {
- "definition": {
- "val": "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.",
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- "PMID:21841933"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Complete heart block"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Third-degree heart block"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:27885002"
- },
- {
- "val": "UMLS:C0151517"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001710",
- "lbl": "Conotruncal defect",
- "meta": {
- "definition": {
- "val": "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Conotruncal heart defects"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853238"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001711",
- "lbl": "Abnormal left ventricle morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the left ventricle of the heart.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the left ventricle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal heart left ventricle morphology",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1810"
- },
- {
- "val": "SNOMEDCT_US:253535002"
- },
- {
- "val": "UMLS:C0344905"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001712",
- "lbl": "Left ventricular hypertrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005171"
- }
- ],
- "definition": {
- "val": "Enlargement or increased size of the heart left ventricle.",
- "xrefs": [
- "MP:0002625"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular wall hypertrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Heart left ventricle hypertrophy",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:3608"
- },
- {
- "val": "MSH:D017379"
- },
- {
- "val": "SNOMEDCT_US:55827005"
- },
- {
- "val": "UMLS:C0149721"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001713",
- "lbl": "Abnormal cardiac ventricle morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of a cardiac ventricle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cardiac ventricle"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001714",
- "lbl": "Ventricular hypertrophy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005167"
- }
- ],
- "definition": {
- "val": "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:266249003"
- },
- {
- "val": "UMLS:C0340279"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001716",
- "lbl": "Wolff-Parkinson-White syndrome",
- "meta": {
- "definition": {
- "val": "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D014927"
- },
- {
- "val": "SNOMEDCT_US:74390002"
- },
- {
- "val": "UMLS:C0043202"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001717",
- "lbl": "Coronary artery calcification",
- "meta": {
- "definition": {
- "val": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:445512009"
- },
- {
- "val": "UMLS:C1611184"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001718",
- "lbl": "Mitral stenosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005163"
- }
- ],
- "definition": {
- "val": "An abnormal narrowing of the orifice of the mitral valve.",
- "xrefs": [
- "DDD:dbrown"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Mitral valve stenosis"
- }
- ],
- "xrefs": [
- {
- "val": "EPCC:06.02.92"
- },
- {
- "val": "Fyler:1511"
- },
- {
- "val": "ICD-10:Q23.2"
- },
- {
- "val": "MSH:D008946"
- },
- {
- "val": "SNOMEDCT_US:79619009"
- },
- {
- "val": "UMLS:C0026269"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001719",
- "lbl": "Double outlet right ventricle",
- "meta": {
- "comments": [
- "During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD."
- ],
- "definition": {
- "val": "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.",
- "xrefs": [
- "HPO:probinson",
- "PMID:10798433"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "DORV"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Double-outlet right ventricle"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:600"
- },
- {
- "val": "Fyler:606"
- },
- {
- "val": "MSH:D004310"
- },
- {
- "val": "SNOMEDCT_US:7484005"
- },
- {
- "val": "UMLS:C0013069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001722",
- "lbl": "High-output congestive heart failure",
- "meta": {
- "definition": {
- "val": "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0742747"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001723",
- "lbl": "Restrictive cardiomyopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005130"
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- ],
- "comments": [
- "Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM."
- ],
- "definition": {
- "val": "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17916581"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D002313"
- },
- {
- "val": "SNOMEDCT_US:415295002"
- },
- {
- "val": "SNOMEDCT_US:90828009"
- },
- {
- "val": "UMLS:C0007196"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001724",
- "lbl": "obsolete Aortic dilatation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0004942"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001726",
- "lbl": "obsolete Increased prevalence of valvular disease",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0001654"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001727",
- "lbl": "Thromboembolic stroke",
- "meta": {
- "definition": {
- "val": "A cerebrovascular accident (stroke) that occurs because of thromboembolism.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1112433"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001730",
- "lbl": "Progressive hearing impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008590"
- }
- ],
- "definition": {
- "val": "A progressive form of hearing impairment.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Progressive hearing loss"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842138"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001732",
- "lbl": "Abnormality of the pancreas",
- "meta": {
- "definition": {
- "val": "An abnormality of the pancreas.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pancreas"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pancreatic disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010182"
- },
- {
- "val": "SNOMEDCT_US:3855007"
- },
- {
- "val": "UMLS:C0030286"
- },
- {
- "val": "UMLS:C4025751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001733",
- "lbl": "Pancreatitis",
- "meta": {
- "definition": {
- "val": "The presence of inflammation in the pancreas.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pancreatic inflammation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010195"
- },
- {
- "val": "SNOMEDCT_US:75694006"
- },
- {
- "val": "UMLS:C0030305"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001734",
- "lbl": "Annular pancreas",
- "meta": {
- "definition": {
- "val": "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "MSH:C536376"
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- {
- "val": "SNOMEDCT_US:40315008"
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- {
- "val": "UMLS:C0149955"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001735",
- "lbl": "Acute pancreatitis",
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- "basicPropertyValues": [
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- "val": "HP:0004512"
- }
- ],
- "definition": {
- "val": "A acute form of pancreatitis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acute pancreatic inflammation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pancreatitis, acute"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:197456007"
- },
- {
- "val": "UMLS:C0001339"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001737",
- "lbl": "Pancreatic cysts",
- "meta": {
- "comments": [
- "Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium."
- ],
- "definition": {
- "val": "A cyst of the pancreas that possess a lining of mucous epithelium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pancreatic cysts"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple pancreatic cysts"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pancreatic cyst"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010181"
- },
- {
- "val": "SNOMEDCT_US:31258000"
- },
- {
- "val": "UMLS:C0030283"
- },
- {
- "val": "UMLS:C1860394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001738",
- "lbl": "Exocrine pancreatic insufficiency",
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- "basicPropertyValues": [
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- "val": "HP:0004508"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004509"
- }
- ],
- "definition": {
- "val": "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pancreatic insufficiency"
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- ],
- "xrefs": [
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- "val": "MSH:D010188"
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- {
- "val": "SNOMEDCT_US:37992001"
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- {
- "val": "SNOMEDCT_US:47367009"
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- {
- "val": "UMLS:C0030293"
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- "val": "UMLS:C0267963"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001739",
- "lbl": "Abnormal nasopharynx morphology",
- "meta": {
- "comments": [
- "The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate."
- ],
- "definition": {
- "val": "A structural anomaly of the nasopharynx."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nasopharynx"
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- ],
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- {
- "val": "UMLS:C4025750"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001741",
- "lbl": "Phimosis",
- "meta": {
- "definition": {
- "val": "The male foreskin cannot be fully retracted from the head of the penis.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253854008"
- },
- {
- "val": "UMLS:C0345326"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001742",
- "lbl": "Nasal congestion",
- "meta": {
- "definition": {
- "val": "Reduced ability to pass air through the nasal cavity often leading to mouth breathing.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal obstruction"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blockage of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal blockage",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Obstruction of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stuffy nose",
- "xrefs": [
- "http://www.entnet.org/content/stuffy-nose"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Congestion of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015508"
- },
- {
- "val": "SNOMEDCT_US:232209000"
- },
- {
- "val": "SNOMEDCT_US:267100006"
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- {
- "val": "SNOMEDCT_US:68235000"
- },
- {
- "val": "UMLS:C0027424"
- },
- {
- "val": "UMLS:C0027429"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001743",
- "lbl": "Abnormality of the spleen",
- "meta": {
- "comments": [
- "The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system."
- ],
- "definition": {
- "val": "An abnormality of the spleen.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the spleen"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025749"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001744",
- "lbl": "Splenomegaly",
- "meta": {
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- "val": "HP:0006269"
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- ],
- "definition": {
- "val": "Abnormal increased size of the spleen.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased spleen size",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013163"
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- {
- "val": "SNOMEDCT_US:16294009"
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- "val": "UMLS:C0038002"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001746",
- "lbl": "Asplenia",
- "meta": {
- "definition": {
- "val": "Absence (aplasia) of the spleen.",
- "xrefs": [
- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent spleen",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "Fyler:4771"
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- {
- "val": "SNOMEDCT_US:702624008"
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- "val": "SNOMEDCT_US:707147002"
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- {
- "val": "SNOMEDCT_US:93030006"
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- {
- "val": "UMLS:C0600031"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001747",
- "lbl": "Accessory spleen",
- "meta": {
- "definition": {
- "val": "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.",
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- "HPO:probinson"
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- "xrefs": [
- {
- "val": "Fyler:4772"
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- {
- "val": "SNOMEDCT_US:10362008"
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- "val": "UMLS:C0266631"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001748",
- "lbl": "Polysplenia",
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- "val": "HP:0006271"
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- "val": "HP:0006272"
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- ],
- "definition": {
- "val": "Polysplenia is a congenital disease manifested by multiple small accessory spleens.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Multiple small spleens",
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- "ORCID:0000-0002-6548-5200"
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- "pred": "hasExactSynonym",
- "val": "Accessory spleens"
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- "pred": "hasExactSynonym",
- "val": "Multiple accessory spleens"
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- ],
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- "val": "UMLS:C1856659"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001750",
- "lbl": "Single ventricle",
- "meta": {
- "definition": {
- "val": "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.",
- "xrefs": [
- "MP:0010432"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Common ventricle",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "Fyler:0200"
- },
- {
- "val": "Fyler:200"
- },
- {
- "val": "SNOMEDCT_US:45503006"
- },
- {
- "val": "UMLS:C0152424"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001751",
- "lbl": "Vestibular dysfunction",
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- "val": "HP:0007921"
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- "The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body."
- ],
- "definition": {
- "val": "An abnormality of the functioning of the vestibular apparatus.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Impaired vestibular function"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Interictal vestibular dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vestibular function defect"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843865"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001756",
- "lbl": "Vestibular hypofunction",
- "meta": {
- "definition": {
- "val": "Reduced functioning of the vestibular apparatus.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1848606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001757",
- "lbl": "High-frequency sensorineural hearing impairment",
- "meta": {
- "definition": {
- "val": "A form of sensorineural hearing impairment that affects primarily the higher frequencies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "High frequency sensorineural hearing impairment"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High-tone sensorineural deafness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High-tone sensorineural hearing impairment"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021775"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001760",
- "lbl": "Abnormal foot morphology",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010611"
- }
- ],
- "comments": [
- "A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others."
- ],
- "definition": {
- "val": "An abnormality of the skeleton of foot.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal feet structure"
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- "val": "Abnormality of the feet"
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- "val": "Abnormality of the foot"
- },
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- "pred": "hasExactSynonym",
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- "val": "Foot deformities"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Foot deformity"
- }
- ],
- "xrefs": [
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- "val": "MSH:D005530"
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- "val": "SNOMEDCT_US:229844004"
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- "val": "UMLS:C0016506"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001761",
- "lbl": "Pes cavus",
- "meta": {
- "definition": {
- "val": "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.",
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- "HPO:probinson",
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- "val": "High-arched foot",
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- "orcid.org/0000-0002-6548-5200"
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- "val": "MEDDRA:10034743"
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- "val": "SNOMEDCT_US:205091006"
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- "val": "UMLS:C0728829"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001762",
- "lbl": "Talipes equinovarus",
- "meta": {
- "comments": [
- "Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus."
- ],
- "definition": {
- "val": "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.",
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- "HPO:probinson",
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- "val": "Club feet"
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- "val": "Clubfoot"
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- {
- "pred": "hasExactSynonym",
- "val": "Clubbing of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Equinovarus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Foot, talipes equinovarus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pes equinovarus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pes equinus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Talipes varus",
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- "https://orcid.org/0000-0001-5208-3432"
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- "val": "Fyler:4171"
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- "val": "SNOMEDCT_US:397932003"
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- "val": "UMLS:C0009081"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001763",
- "lbl": "Pes planus",
- "meta": {
- "definition": {
- "val": "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.",
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- "HPO:probinson",
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- },
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Flat feet"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Flat foot"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dropped arches"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fallen arches"
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- ],
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- "val": "MSH:D005413"
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- "val": "SNOMEDCT_US:203534009"
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- "val": "SNOMEDCT_US:53226007"
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- "val": "UMLS:C0016202"
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- "val": "UMLS:C0264133"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001765",
- "lbl": "Hammertoe",
- "meta": {
- "definition": {
- "val": "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.",
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- "PMID:19125433"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Hammer toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hammertoe"
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- "pred": "hasExactSynonym",
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- "xrefs": [
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001769",
- "lbl": "Broad foot",
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- "definition": {
- "val": "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.",
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- "PMID:19125433"
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "val": "Wide foot",
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- "val": "UMLS:C1866241"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001770",
- "lbl": "Toe syndactyly",
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- ],
- "definition": {
- "val": "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".",
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- "synonyms": [
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- "val": "Webbed toes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Syndactyly of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Syndactyly of toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Foot syndactyly",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:32113001"
- },
- {
- "val": "UMLS:C0265660"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001771",
- "lbl": "Achilles tendon contracture",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004711"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005031"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006430"
- }
- ],
- "definition": {
- "val": "A contracture of the Achilles tendon.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortening of the achilles tendon"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tight achilles tendon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Contractures of the Achilles tendon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Achilles tendon contractures",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:203076007"
- },
- {
- "val": "UMLS:C0410264"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001772",
- "lbl": "Talipes equinovalgus",
- "meta": {
- "definition": {
- "val": "A deformity of foot and ankle in which the foot is bent down and outwards.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Equinovalgus deformity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004863"
- },
- {
- "val": "SNOMEDCT_US:68284008"
- },
- {
- "val": "UMLS:C0265642"
- },
- {
- "val": "UMLS:C4020866"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001773",
- "lbl": "Short foot",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0001764"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001766"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001778"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008135"
- }
- ],
- "definition": {
- "val": "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short foot"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848673"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001775",
- "lbl": "Tarsal osteovalgus",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025748"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001776",
- "lbl": "Bilateral talipes equinovarus",
- "meta": {
- "definition": {
- "val": "Bilateral clubfoot deformity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Club foot on both sides"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral clubfeet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral clubfoot"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837835"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001780",
- "lbl": "Abnormality of toe",
- "meta": {
- "definition": {
- "val": "An anomaly of a toe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of the toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of toe"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2674738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001782",
- "lbl": "Bulbous tips of toes",
- "meta": {
- "definition": {
- "val": "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025747"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001783",
- "lbl": "Broad metatarsal",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005907"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008106"
- }
- ],
- "definition": {
- "val": "Increased side-to-side width of a metatarsal bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide long bone of foot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Broad metatarsals"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Widened metatarsal shaft"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842231"
- },
- {
- "val": "UMLS:C1850161"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001785",
- "lbl": "Ankle swelling",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ankle swelling"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:26237000"
- },
- {
- "val": "SNOMEDCT_US:267039000"
- },
- {
- "val": "UMLS:C0235439"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001786",
- "lbl": "Narrow foot",
- "meta": {
- "definition": {
- "val": "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow foot"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender feet"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:299464006"
- },
- {
- "val": "UMLS:C0576227"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001787",
- "lbl": "Abnormal delivery",
- "meta": {
- "definition": {
- "val": "An abnormality of the birth process.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal delivery"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delivery complication"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274127000"
- },
- {
- "val": "UMLS:C0549629"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001788",
- "lbl": "Premature rupture of membranes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002163"
- }
- ],
- "definition": {
- "val": "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D005322"
- },
- {
- "val": "SNOMEDCT_US:237266003"
- },
- {
- "val": "SNOMEDCT_US:44223004"
- },
- {
- "val": "UMLS:C0015944"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001789",
- "lbl": "Hydrops fetalis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005099"
- }
- ],
- "comments": [
- "The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms."
- ],
- "definition": {
- "val": "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D015160"
- },
- {
- "val": "SNOMEDCT_US:276508000"
- },
- {
- "val": "UMLS:C0020305"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001790",
- "lbl": "Nonimmune hydrops fetalis",
- "meta": {
- "definition": {
- "val": "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Non-immune foetal hydrops"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hydrops fetalis, non-immune"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hydrops fetalis, nonimmune"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Non-immune fetal hydrops"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nonimmune hydrops"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015160"
- },
- {
- "val": "SNOMEDCT_US:206538000"
- },
- {
- "val": "SNOMEDCT_US:276509008"
- },
- {
- "val": "UMLS:C0455988"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001791",
- "lbl": "Fetal ascites",
- "meta": {
- "definition": {
- "val": "Accumulation of fluid in the peritoneal cavity during the fetal period.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal ascites"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:363125002"
- },
- {
- "val": "UMLS:C1285291"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001792",
- "lbl": "Small nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001813"
- }
- ],
- "definition": {
- "val": "A nail that is diminished in length and width, i.e., underdeveloped nail.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nail"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nail"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nail hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:11375002"
- },
- {
- "val": "UMLS:C0263523"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001795",
- "lbl": "Hyperconvex nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008413"
- }
- ],
- "comments": [
- "No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified."
- ],
- "definition": {
- "val": "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nail curvature"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nail overcurvature"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:247487009"
- },
- {
- "val": "UMLS:C0423807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001798",
- "lbl": "Anonychia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007593"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008384"
- }
- ],
- "comments": [
- "Total absence of nails."
- ],
- "definition": {
- "val": "Aplasia of the nail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent nails"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Aplastic nails"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536377"
- },
- {
- "val": "SNOMEDCT_US:23610003"
- },
- {
- "val": "UMLS:C0265998"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001799",
- "lbl": "Short nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200075"
- }
- ],
- "comments": [
- "Use this designation when the length is reduced but the width is normal."
- ],
- "definition": {
- "val": "Decreased length of nail.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short nail"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short nails",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:247488004"
- },
- {
- "val": "UMLS:C0423808"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001800",
- "lbl": "Hypoplastic toenails",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the toenail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped toenails",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837279"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001802",
- "lbl": "Absent toenail",
- "meta": {
- "definition": {
- "val": "Congenital absence of the toenail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent toenail"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent toenails"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Absent toenails (anonychia)",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Anonychia of toenails",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844555"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001803",
- "lbl": "Nail pits",
- "meta": {
- "definition": {
- "val": "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#secondary_consequence"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nail pits"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nail pitting"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pitted nails"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10028702"
- },
- {
- "val": "SNOMEDCT_US:89704006"
- },
- {
- "val": "UMLS:C0150993"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001804",
- "lbl": "Hypoplastic fingernail",
- "meta": {
- "definition": {
- "val": "Underdevelopment of a fingernail.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small fingernail",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped fingernail",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001805",
- "lbl": "Onychogryposis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001819"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200088"
- }
- ],
- "comments": [
- "There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity."
- ],
- "definition": {
- "val": "Nail that appears thick when viewed on end.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick nail"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickened nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dystrophic thickened nails"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:52897009"
- },
- {
- "val": "UMLS:C0263537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001806",
- "lbl": "Onycholysis",
- "meta": {
- "definition": {
- "val": "Detachment of the nail from the nail bed.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Detachment of nail",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oncholysis"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10030337"
- },
- {
- "val": "MSH:D054039"
- },
- {
- "val": "SNOMEDCT_US:75789001"
- },
- {
- "val": "UMLS:C0085661"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001807",
- "lbl": "Ridged nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001801"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001811"
- }
- ],
- "comments": [
- "There may be only one, or several ridges. The affected digits should be specified."
- ],
- "definition": {
- "val": "Longitudinal, linear prominences in the nail plate.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Grooved nails"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nail ridging"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Ridged nails",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Longitudinal ridging"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:271768001"
- },
- {
- "val": "UMLS:C0423820"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001808",
- "lbl": "Fragile nails",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001796"
- }
- ],
- "definition": {
- "val": "Nails that easily break.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Brittle nails"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856963"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001809",
- "lbl": "Split nail",
- "meta": {
- "comments": [
- "This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments."
- ],
- "definition": {
- "val": "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Longitudinal splitting of nail"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:85136002"
- },
- {
- "val": "UMLS:C0263530"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001810",
- "lbl": "Dystrophic toenail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007558"
- }
- ],
- "definition": {
- "val": "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor toenail formation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://naildystrophy.com/"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dystrophic toenail changes"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dystrophic toenails"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833225"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001812",
- "lbl": "Hyperconvex fingernails",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008380"
- }
- ],
- "definition": {
- "val": "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tubular fingernails"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844825"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001814",
- "lbl": "Deep-set nails",
- "meta": {
- "definition": {
- "val": "Deeply placed nails.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep-set nails"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277753"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001816",
- "lbl": "Thin nail",
- "meta": {
- "comments": [
- "No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified."
- ],
- "definition": {
- "val": "Nail that appears thin when viewed on end.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin nail"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin nails"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:63829008"
- },
- {
- "val": "UMLS:C0423823"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001817",
- "lbl": "Absent fingernail",
- "meta": {
- "definition": {
- "val": "Absence of a fingernail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent fingernail"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplasia of the fingernail"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Anonychia of fingernails",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844554"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001818",
- "lbl": "Paronychia",
- "meta": {
- "definition": {
- "val": "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10034016"
- },
- {
- "val": "MSH:D010304"
- },
- {
- "val": "SNOMEDCT_US:71906005"
- },
- {
- "val": "UMLS:C0030578"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001820",
- "lbl": "Leukonychia",
- "meta": {
- "definition": {
- "val": "White discoloration of the nails.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "White discoloration of nails",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10050658"
- },
- {
- "val": "SNOMEDCT_US:111202002"
- },
- {
- "val": "UMLS:C0240182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001821",
- "lbl": "Broad nail",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008406"
- }
- ],
- "definition": {
- "val": "Increased width of nail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad fingernails"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad nail"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide fingernails"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843112"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001822",
- "lbl": "Hallux valgus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004682"
- }
- ],
- "definition": {
- "val": "Lateral deviation of the great toe (i.e., in the direction of the little toe).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bunion",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lateral deviation of great toe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lateral deviation of halluces"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000071378"
- },
- {
- "val": "MSH:D006215"
- },
- {
- "val": "SNOMEDCT_US:122480009"
- },
- {
- "val": "SNOMEDCT_US:415692008"
- },
- {
- "val": "UMLS:C0006386"
- },
- {
- "val": "UMLS:C0018536"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001824",
- "lbl": "Weight loss",
- "meta": {
- "definition": {
- "val": "Reduction of total body weight.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Loss of weight"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015431"
- },
- {
- "val": "SNOMEDCT_US:161832001"
- },
- {
- "val": "SNOMEDCT_US:262285001"
- },
- {
- "val": "SNOMEDCT_US:89362005"
- },
- {
- "val": "UMLS:C1262477"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001827",
- "lbl": "Genital tract atresia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-27T04:08:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001534"
- }
- ],
- "definition": {
- "val": "Congenital occlusion of a tube in the genital tract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025746"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001829",
- "lbl": "Foot polydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009135"
- }
- ],
- "definition": {
- "val": "A kind of polydactyly characterized by the presence of a supernumerary toe or toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Duplication of bones of the toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly of the foot"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:62218008"
- },
- {
- "val": "UMLS:C0158734"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001830",
- "lbl": "Postaxial foot polydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010346"
- }
- ],
- "comments": [
- "The modifier postaxial means that the supernumerary digit is not a hallux."
- ],
- "definition": {
- "val": "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra toe attached near the little toe",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly affecting the 5th toe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postaxial polydactyly of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postaxial polydactyly of foot"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior polydactyly of foot"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Fibular polydactyly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2112129"
- },
- {
- "val": "UMLS:C4020865"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001831",
- "lbl": "Short toe",
- "meta": {
- "basicPropertyValues": [
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- },
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- "val": "HP:0001781"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001855"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004701"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005889"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008099"
- }
- ],
- "comments": [
- "This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly."
- ],
- "definition": {
- "val": "A toe that appears disproportionately short compared to the foot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stubby toes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachydactyly of the foot"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the toe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short foot phalanges"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836195"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001832",
- "lbl": "Abnormal metatarsal morphology",
- "meta": {
- "definition": {
- "val": "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the long bone of foot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025745"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001833",
- "lbl": "Long foot",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008136"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008143"
- }
- ],
- "definition": {
- "val": "Increased back to front length of the foot.",
- "xrefs": [
- "UHPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionately large feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long foot"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "large feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "long feet"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:299462005"
- },
- {
- "val": "UMLS:C0576225"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001836",
- "lbl": "Camptodactyly of toe",
- "meta": {
- "definition": {
- "val": "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Camptodactyly of feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021774"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001837",
- "lbl": "Broad toe",
- "meta": {
- "comments": [
- "Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient."
- ],
- "definition": {
- "val": "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865038"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001838",
- "lbl": "Rocker bottom foot",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001835"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004693"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010218"
- }
- ],
- "comments": [
- "Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a \"reversed\" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis."
- ],
- "definition": {
- "val": "The presence of both a prominent heel and a convex contour of the sole.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rocker bottom feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rocker bottom foot"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rocker-bottom feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rockerbottom feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital vertical talus"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10066242"
- },
- {
- "val": "MSH:C536345"
- },
- {
- "val": "MSH:D005413"
- },
- {
- "val": "SNOMEDCT_US:205082007"
- },
- {
- "val": "SNOMEDCT_US:205359003"
- },
- {
- "val": "UMLS:C0240912"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001839",
- "lbl": "Split foot",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003062"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005904"
- }
- ],
- "definition": {
- "val": "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lobster-claw foot deformity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Split foot"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Split-foot"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Foot ectrodactyly"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205358006"
- },
- {
- "val": "UMLS:C0432028"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001840",
- "lbl": "Metatarsus adductus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001768"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010217"
- }
- ],
- "comments": [
- "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline."
- ],
- "definition": {
- "val": "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Front half of foot turns inward",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Forefoot varus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metatarsus adductovarsus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metatarsus varus"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Intoe"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000070592"
- },
- {
- "val": "SNOMEDCT_US:77599005"
- },
- {
- "val": "UMLS:C0231791"
- },
- {
- "val": "UMLS:C4082169"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001841",
- "lbl": "Preaxial foot polydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009607"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010050"
- }
- ],
- "comments": [
- "This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet."
- ],
- "definition": {
- "val": "Duplication of all or part of the first ray.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Polydactyly affecting the hallux"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial hallucal polydactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial polydactyly of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial polydactyly of foot"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial polydactyly, feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial/complete duplication of the phalanges of the big toe",
- "xrefs": [
- "HPO:curators"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preaxial polydactyly of the feet",
- "xrefs": [
- "HPO:curators"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C566632"
- },
- {
- "val": "UMLS:C1866339"
- },
- {
- "val": "UMLS:C2112942"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001842",
- "lbl": "Foot acroosteolysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Acroosteolysis of feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025744"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001844",
- "lbl": "Abnormality of the hallux",
- "meta": {
- "definition": {
- "val": "This term applies for all abnormalities of the big toe, also called hallux.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the big toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormalities of the hallux"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021773"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001845",
- "lbl": "Overlapping toe",
- "meta": {
- "comments": [
- "This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly."
- ],
- "definition": {
- "val": "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overlapping toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overriding toes"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crossover toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overlapping toes",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:203541003"
- },
- {
- "val": "UMLS:C0920299"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001847",
- "lbl": "Long hallux",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001867"
- }
- ],
- "definition": {
- "val": "Increased length of the big toe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long big toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased length of the hallux"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large halluces"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Long halluces"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864375"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001848",
- "lbl": "Calcaneovalgus deformity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001774"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008120"
- }
- ],
- "comments": [
- "Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth."
- ],
- "definition": {
- "val": "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Foot and ankle bend up toward shin of leg",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Calcaneovalgus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Calcaneovalgus Foot"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Valgus position of the calcaneus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860450"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001849",
- "lbl": "Foot oligodactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001777"
- }
- ],
- "definition": {
- "val": "A developmental defect resulting in the presence of fewer than the normal number of toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oligodactyly of feet"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249820005"
- },
- {
- "val": "UMLS:C0426934"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001850",
- "lbl": "Abnormality of the tarsal bones",
- "meta": {
- "definition": {
- "val": "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal ankle bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal tarsals"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862136"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001852",
- "lbl": "Sandal gap",
- "meta": {
- "definition": {
- "val": "A widely spaced gap between the first toe (the great toe) and the second toe.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between 1st and 2nd toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between first and second toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased space between first and second toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sandal gap between first and second toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide space between 1st, 2nd toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide space between first and second toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced 1st-2nd toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced first and second toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widened gap 1st-2nd toes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widened gap first and second toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide-spaced big toe",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Space between great toe and second toe"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001853",
- "lbl": "Bifid distal phalanx of toe",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched outermost bones of toes",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bifid distal phalanges of toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bifid terminal phalanx of toe"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021772"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001854",
- "lbl": "Podagra",
- "meta": {
- "definition": {
- "val": "Gout affecting the Metatarsophalangeal joint of big toe.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gout of big toe"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:67148009"
- },
- {
- "val": "UMLS:C0221168"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001857",
- "lbl": "Short distal phalanx of toe",
- "meta": {
- "comments": [
- "This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build."
- ],
- "definition": {
- "val": "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.",
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- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Short outermost bone of toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic distal phalanges of feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021771"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001859",
- "lbl": "Distal foot symphalangism",
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- {
- "val": "UMLS:C4025743"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001862",
- "lbl": "obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)",
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- "deprecated": true
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001863",
- "lbl": "Toe clinodactyly",
- "meta": {
- "definition": {
- "val": "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Toe curvature",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Clinodactyly of feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021770"
- },
- {
- "val": "UMLS:C4280587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001864",
- "lbl": "Clinodactyly of the 5th toe",
- "meta": {
- "definition": {
- "val": "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Curvature of the little toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Curvature of the pinkie toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Curvature of the pinky toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025741"
- },
- {
- "val": "UMLS:C4280586"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001868",
- "lbl": "Autoamputation of foot",
- "meta": {
- "definition": {
- "val": "Spontaneous detachment of a foot from the body.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025740"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001869",
- "lbl": "Deep plantar creases",
- "meta": {
- "definition": {
- "val": "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep wrinkles in soles of feet",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857953"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001870",
- "lbl": "Acroosteolysis of distal phalanges (feet)",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Acroosteolysis of distal phalanges of feet"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025739"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001871",
- "lbl": "Abnormality of blood and blood-forming tissues",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003135"
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- ],
- "comments": [
- "The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes."
- ],
- "definition": {
- "val": "An abnormality of the hematopoietic system.",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of blood and blood-forming tissues"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of the haematopoietic system"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Haematological abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the hematopoietic system"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hematological abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hematologic disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006402"
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- {
- "val": "SNOMEDCT_US:191124002"
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- "val": "SNOMEDCT_US:34093004"
- },
- {
- "val": "UMLS:C0018939"
- },
- {
- "val": "UMLS:C0850715"
- },
- {
- "val": "UMLS:C4020864"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001872",
- "lbl": "Abnormality of thrombocytes",
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- "val": "HP:0005554"
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- ],
- "comments": [
- "Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation."
- ],
- "definition": {
- "val": "An abnormality of platelets.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Platelet abnormalities"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Blood platelet disease"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Thrombasthenia"
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- "xrefs": [
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- "val": "MSH:D013915"
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- "val": "SNOMEDCT_US:127566005"
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- "val": "SNOMEDCT_US:32942005"
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- "val": "UMLS:C0040015"
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- "val": "UMLS:C0151854"
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- "val": "UMLS:C4020863"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001873",
- "lbl": "Thrombocytopenia",
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- "comments": [
- "Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular)."
- ],
- "definition": {
- "val": "A reduction in the number of circulating thrombocytes.",
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- "HPO:probinson"
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- "synonyms": [
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- "val": "Low platelet count"
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- "val": "MSH:D013921"
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- "val": "SNOMEDCT_US:302215000"
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- "id": "http://purl.obolibrary.org/obo/HP_0001874",
- "lbl": "Abnormality of neutrophils",
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- "Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day."
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- "definition": {
- "val": "A neutrophil abnormality.",
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- "HPO:probinson",
- "PMID:21094463",
- "PMID:26819959"
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- "synonyms": [
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- "val": "Abnormality of neutrophils"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of neutrophil"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of polymorphonuclear neutrophils"
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- "xrefs": [
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- "val": "SNOMEDCT_US:250274006"
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- "val": "UMLS:C0427515"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001875",
- "lbl": "Neutropenia",
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- "comments": [
- "Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood."
- ],
- "definition": {
- "val": "An abnormally low number of neutrophils in the peripheral blood.",
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- "HPO:probinson",
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C0853697"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001876",
- "lbl": "Pancytopenia",
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- "definition": {
- "val": "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).",
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- "xrefs": [
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- "val": "UMLS:C0030312"
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- "type": "CLASS"
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- "lbl": "Abnormal erythrocyte morphology",
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- "definition": {
- "val": "Any structural abnormality of erythrocytes (red-blood cells).",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Abnormality of red blood cells"
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- "val": "Abnormality of erythroid lineage cell"
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- "val": "UMLS:C0391870"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0001878",
- "lbl": "Hemolytic anemia",
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- "comments": [
- "Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count."
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- "definition": {
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- "val": "MSH:D000743"
- },
- {
- "val": "SNOMEDCT_US:61261009"
- },
- {
- "val": "UMLS:C0002878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001879",
- "lbl": "Abnormal eosinophil morphology",
- "meta": {
- "comments": [
- "Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged."
- ],
- "definition": {
- "val": "An abnormal count or structure of eosinophils.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23154224"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of eosinophils"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001880",
- "lbl": "Eosinophilia",
- "meta": {
- "definition": {
- "val": "Increased count of eosinophils in the blood.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High blood eosinophil count",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004802"
- },
- {
- "val": "UMLS:C0014457"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001881",
- "lbl": "Abnormal leukocyte morphology",
- "meta": {
- "comments": [
- "Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue."
- ],
- "definition": {
- "val": "An abnormality of leukocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of leukocytes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:134199001"
- },
- {
- "val": "SNOMEDCT_US:24827003"
- },
- {
- "val": "UMLS:C0152009"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001882",
- "lbl": "Leukopenia",
- "meta": {
- "definition": {
- "val": "An abnormal decreased number of leukocytes in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low white blood cell count"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased blood leukocyte number",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007970"
- },
- {
- "val": "SNOMEDCT_US:84828003"
- },
- {
- "val": "UMLS:C0023530"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001883",
- "lbl": "Talipes",
- "meta": {
- "comments": [
- "Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down."
- ],
- "definition": {
- "val": "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Talipes foot deformities",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000070558"
- },
- {
- "val": "SNOMEDCT_US:398309008"
- },
- {
- "val": "UMLS:C1301937"
- },
- {
- "val": "UMLS:C3552713"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001884",
- "lbl": "Talipes calcaneovalgus",
- "meta": {
- "definition": {
- "val": "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pes calcaneovarus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005413"
- },
- {
- "val": "SNOMEDCT_US:205083002"
- },
- {
- "val": "SNOMEDCT_US:31668003"
- },
- {
- "val": "UMLS:C0152237"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001885",
- "lbl": "Short 2nd toe",
- "meta": {
- "definition": {
- "val": "Underdevelopment (hypoplasia) of the second toe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short second toe"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021769"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001886",
- "lbl": "Foot osteomyelitis",
- "meta": {
- "definition": {
- "val": "An infection of bone of the foot."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Foot bone infection"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025737"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001888",
- "lbl": "Lymphopenia",
- "meta": {
- "definition": {
- "val": "A reduced number of lymphocytes in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased blood lymphocyte number",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low lymphocyte number",
- "xrefs": [
- "ORCID:0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absolute lymphocyte count decrease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lymphocytopenia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008231"
- },
- {
- "val": "SNOMEDCT_US:48813009"
- },
- {
- "val": "UMLS:C0024312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001889",
- "lbl": "Megaloblastic anemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004858"
- }
- ],
- "comments": [
- "Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis."
- ],
- "definition": {
- "val": "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Megaloblastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000749"
- },
- {
- "val": "SNOMEDCT_US:53165003"
- },
- {
- "val": "UMLS:C0002888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001890",
- "lbl": "Autoimmune hemolytic anemia",
- "meta": {
- "definition": {
- "val": "An autoimmune form of hemolytic anemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Autoimmune hemolytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Autoimmune haemolytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hemolytic anemia, autoimmune"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000744"
- },
- {
- "val": "SNOMEDCT_US:413603009"
- },
- {
- "val": "UMLS:C0002880"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001891",
- "lbl": "Iron deficiency anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Iron deficiency anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Iron-deficiency anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Iron-deficiency anemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ferropenic",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018798"
- },
- {
- "val": "SNOMEDCT_US:87522002"
- },
- {
- "val": "UMLS:C0162316"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001892",
- "lbl": "Abnormal bleeding",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004830"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004834"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004849"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004862"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004865"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008183"
- }
- ],
- "comments": [
- "This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted."
- ],
- "definition": {
- "val": "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bleeding tendency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bleeding diathesis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hemorrhagic diathesis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248250000"
- },
- {
- "val": "SNOMEDCT_US:64779008"
- },
- {
- "val": "UMLS:C1458140"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001894",
- "lbl": "Thrombocytosis",
- "meta": {
- "comments": [
- "Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term \"thrombocythemia\" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia."
- ],
- "definition": {
- "val": "Increased numbers of platelets in the peripheral blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased number of platelets in blood",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased platelet count"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Thrombocythaemia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Thrombocythemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013922"
- },
- {
- "val": "SNOMEDCT_US:415115007"
- },
- {
- "val": "SNOMEDCT_US:6631009"
- },
- {
- "val": "UMLS:C0836924"
- },
- {
- "val": "UMLS:C0857460"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001895",
- "lbl": "Normochromic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Normochromic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0235983"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001896",
- "lbl": "Reticulocytopenia",
- "meta": {
- "definition": {
- "val": "A reduced number of reticulocytes in the peripheral blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124961001"
- },
- {
- "val": "UMLS:C0858867"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001897",
- "lbl": "Normocytic anemia",
- "meta": {
- "comments": [
- "In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults)."
- ],
- "definition": {
- "val": "A kind of anemia in which the volume of the red blood cells is normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Normocytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:300980002"
- },
- {
- "val": "UMLS:C0085577"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001898",
- "lbl": "Increased red blood cell mass",
- "meta": {
- "definition": {
- "val": "The presence of an increased mass of red blood cells in the circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased RBC mass"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853288"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001899",
- "lbl": "Increased hematocrit",
- "meta": {
- "definition": {
- "val": "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased Hct"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239935"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001900",
- "lbl": "Increased hemoglobin",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased Hb"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased haemoglobin"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:131141003"
- },
- {
- "val": "UMLS:C0549448"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001901",
- "lbl": "Polycythemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001893"
- }
- ],
- "definition": {
- "val": "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased red blood cells",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Erythrocytosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Polyglobulia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormally shaped erythrocytes",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011086"
- },
- {
- "val": "SNOMEDCT_US:109992005"
- },
- {
- "val": "SNOMEDCT_US:127062003"
- },
- {
- "val": "UMLS:C0032461"
- },
- {
- "val": "UMLS:C1527405"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001902",
- "lbl": "Giant platelets",
- "meta": {
- "comments": [
- "This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly."
- ],
- "definition": {
- "val": "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:44687006"
- },
- {
- "val": "UMLS:C0333864"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001903",
- "lbl": "Anemia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001926"
- },
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- "val": "HP:0003136"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005509"
- }
- ],
- "comments": [
- "Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias."
- ],
- "definition": {
- "val": "A reduction in erythrocytes volume or hemoglobin concentration.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Low number of red blood cells or haemoglobin"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased haemoglobin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low number of red blood cells or hemoglobin",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anaemia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Decreased hemoglobin"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000740"
- },
- {
- "val": "SNOMEDCT_US:165397008"
- },
- {
- "val": "SNOMEDCT_US:271737000"
- },
- {
- "val": "UMLS:C0002871"
- },
- {
- "val": "UMLS:C0162119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001904",
- "lbl": "Neutropenia in presence of anti-neutropil antibodies",
- "meta": {
- "comments": [
- "The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction."
- ],
- "definition": {
- "val": "A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.",
- "xrefs": [
- "HPO:probinson",
- "PMID:25642312"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Autoimmune neutropenia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:234425008"
- },
- {
- "val": "UMLS:C0340971"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001905",
- "lbl": "Congenital thrombocytopenia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004869"
- }
- ],
- "definition": {
- "val": "Thrombocytopenia with congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "thrombocytopenia, congenital"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0272278"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001907",
- "lbl": "Thromboembolism",
- "meta": {
- "definition": {
- "val": "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thromboembolic disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thromboembolic events"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Embolism and thrombosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Blood clot in blood vessel",
- "xrefs": [
- "ORCID:0000-0002-6548-5200",
- "http://purl.obolibrary.org/obo/hp#layperson"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013923"
- },
- {
- "val": "MSH:D016769"
- },
- {
- "val": "SNOMEDCT_US:13713005"
- },
- {
- "val": "SNOMEDCT_US:371039008"
- },
- {
- "val": "UMLS:C0040038"
- },
- {
- "val": "UMLS:C0085307"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001908",
- "lbl": "Hypoplastic anemia",
- "meta": {
- "definition": {
- "val": "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypoplastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000741"
- },
- {
- "val": "SNOMEDCT_US:167923006"
- },
- {
- "val": "SNOMEDCT_US:41614006"
- },
- {
- "val": "UMLS:C0178416"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001909",
- "lbl": "Leukemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005519"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006726"
- }
- ],
- "definition": {
- "val": "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.",
- "xrefs": [
- "HPO:probinson",
- "NCIT:C3161"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Leukaemia"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blood cancer",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007938"
- },
- {
- "val": "MSH:D019337"
- },
- {
- "val": "SNOMEDCT_US:129154003"
- },
- {
- "val": "SNOMEDCT_US:269475001"
- },
- {
- "val": "SNOMEDCT_US:87163000"
- },
- {
- "val": "SNOMEDCT_US:93143009"
- },
- {
- "val": "UMLS:C0023418"
- },
- {
- "val": "UMLS:C0376545"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001911",
- "lbl": "Abnormal granulocyte morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005438"
- }
- ],
- "definition": {
- "val": "Any structural abnormality or abnormal count of granulocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of granulocytes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:250274006"
- },
- {
- "val": "UMLS:C0427515"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001912",
- "lbl": "Abnormal basophil morphology",
- "meta": {
- "comments": [
- "Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies."
- ],
- "definition": {
- "val": "Any structural abnormality or abnormal count of basophils.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24075190"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of basophils"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025736"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001913",
- "lbl": "Granulocytopenia",
- "meta": {
- "definition": {
- "val": "An abnormally reduced number of granulocytes in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000380"
- },
- {
- "val": "SNOMEDCT_US:17182001"
- },
- {
- "val": "SNOMEDCT_US:417672002"
- },
- {
- "val": "UMLS:C0001824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001915",
- "lbl": "Aplastic anemia",
- "meta": {
- "comments": [
- "Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production."
- ],
- "definition": {
- "val": "Aplastic anemia is defined as pancytopenia with a hypocellular marrow.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21239768"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Aplastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000741"
- },
- {
- "val": "SNOMEDCT_US:304132006"
- },
- {
- "val": "SNOMEDCT_US:306058006"
- },
- {
- "val": "UMLS:C0002874"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001917",
- "lbl": "Renal amyloidosis",
- "meta": {
- "comments": [
- "In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid."
- ],
- "definition": {
- "val": "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).",
- "xrefs": [
- "HPO:probinson",
- "PMID:25852856"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:48713002"
- },
- {
- "val": "UMLS:C0268382"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001919",
- "lbl": "Acute kidney injury",
- "meta": {
- "comments": [
- "Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies."
- ],
- "definition": {
- "val": "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Acute renal failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Acute kidney failure",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D058186"
- },
- {
- "val": "SNOMEDCT_US:14350001000004108"
- },
- {
- "val": "SNOMEDCT_US:14669001"
- },
- {
- "val": "UMLS:C0022660"
- },
- {
- "val": "UMLS:C2609414"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001920",
- "lbl": "Renal artery stenosis",
- "meta": {
- "definition": {
- "val": "The presence of stenosis of the renal artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of kidney artery",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:2634"
- },
- {
- "val": "MSH:D012078"
- },
- {
- "val": "SNOMEDCT_US:282664001"
- },
- {
- "val": "SNOMEDCT_US:302233006"
- },
- {
- "val": "UMLS:C0035067"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001922",
- "lbl": "Vacuolated lymphocytes",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0008147"
- },
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- "val": "HP:0008329"
- }
- ],
- "comments": [
- "Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency."
- ],
- "definition": {
- "val": "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20633042"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged lysosomal vacuoles in lymphocytes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vacuolated blood lymphocytes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836855"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001923",
- "lbl": "Reticulocytosis",
- "meta": {
- "definition": {
- "val": "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased immature red blood cells",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased number of immature red blood cells",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased reticulocyte count"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased reticulocytes"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Polychromasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D045262"
- },
- {
- "val": "SNOMEDCT_US:46049004"
- },
- {
- "val": "UMLS:C0206160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001924",
- "lbl": "Sideroblastic anemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100791"
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- ],
- "comments": [
- "Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low."
- ],
- "definition": {
- "val": "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypersideremic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Sideroblastic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypersideremic anemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000756"
- },
- {
- "val": "SNOMEDCT_US:41841004"
- },
- {
- "val": "UMLS:C0002896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001927",
- "lbl": "Acanthocytosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005552"
- }
- ],
- "definition": {
- "val": "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Acanthocytes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Red cell acanthocytosis"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:250249008"
- },
- {
- "val": "UMLS:C0687751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001928",
- "lbl": "Abnormality of coagulation",
- "meta": {
- "definition": {
- "val": "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal blood coagulation studies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coagulation abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coagulation abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Blood coagulation disorder"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Haemorrhagic disorders",
- "xrefs": [
- "HPO:sdoelken"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001778"
- },
- {
- "val": "MSH:D006474"
- },
- {
- "val": "SNOMEDCT_US:362970003"
- },
- {
- "val": "SNOMEDCT_US:64779008"
- },
- {
- "val": "UMLS:C0005779"
- },
- {
- "val": "UMLS:C0019087"
- },
- {
- "val": "UMLS:C1846821"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001929",
- "lbl": "Reduced factor XI activity",
- "meta": {
- "definition": {
- "val": "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Low factor XI activity"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Factor XI deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005173"
- },
- {
- "val": "SNOMEDCT_US:49762007"
- },
- {
- "val": "UMLS:C0015523"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001930",
- "lbl": "Nonspherocytic hemolytic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Nonspherocytic hemolytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025735"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001931",
- "lbl": "Hypochromic anemia",
- "meta": {
- "comments": [
- "The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic)."
- ],
- "definition": {
- "val": "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypochromic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000747"
- },
- {
- "val": "SNOMEDCT_US:44452003"
- },
- {
- "val": "UMLS:C0002884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001933",
- "lbl": "Subcutaneous hemorrhage",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-28T07:14:00Z"
- }
- ],
- "comments": [
- "Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm."
- ],
- "definition": {
- "val": "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Subcutaneous haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bleeding below the skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0854107"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001934",
- "lbl": "Persistent bleeding after trauma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007463"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive bleeding after minor trauma"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent bleeding with trauma"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prolonged bleeding after minor trauma"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844374"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001935",
- "lbl": "Microcytic anemia",
- "meta": {
- "comments": [
- "In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults)."
- ],
- "definition": {
- "val": "A kind of anemia in which the volume of the red blood cells is reduced.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Microcytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562385"
- },
- {
- "val": "SNOMEDCT_US:234349007"
- },
- {
- "val": "UMLS:C0085576"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001937",
- "lbl": "Microangiopathic hemolytic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Microangiopathic hemolytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000743"
- },
- {
- "val": "SNOMEDCT_US:51071000"
- },
- {
- "val": "UMLS:C0221021"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001939",
- "lbl": "Abnormality of metabolism/homeostasis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002146"
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- "val": "HP:0004355"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004367"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Laboratory abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Metabolism abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021768"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001941",
- "lbl": "Acidosis",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001940"
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- ],
- "comments": [
- "When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis."
- ],
- "definition": {
- "val": "Abnormal acid accumulation or depletion of base.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24381489"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000138"
- },
- {
- "val": "SNOMEDCT_US:51387008"
- },
- {
- "val": "UMLS:C0001122"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001942",
- "lbl": "Metabolic acidosis",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0004907"
- }
- ],
- "comments": [
- "The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis."
- ],
- "definition": {
- "val": "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.",
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- "HPO:probinson",
- "PMID:17936961",
- "PMID:31418093"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000138"
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- {
- "val": "SNOMEDCT_US:59455009"
- },
- {
- "val": "UMLS:C0220981"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001943",
- "lbl": "Hypoglycemia",
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- ],
- "definition": {
- "val": "A decreased concentration of glucose in the blood.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood sugar",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoglycaemia"
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- ],
- "xrefs": [
- {
- "val": "MSH:D007003"
- },
- {
- "val": "SNOMEDCT_US:237630007"
- },
- {
- "val": "SNOMEDCT_US:271327008"
- },
- {
- "val": "SNOMEDCT_US:302866003"
- },
- {
- "val": "UMLS:C0020615"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001944",
- "lbl": "Dehydration",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dehydration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Exsiccosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003681"
- },
- {
- "val": "SNOMEDCT_US:34095006"
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- {
- "val": "UMLS:C0011175"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001945",
- "lbl": "Fever",
- "meta": {
- "comments": [
- "Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation."
- ],
- "definition": {
- "val": "Body temperature elevated above the normal range.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:9759682"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fever"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperthermia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pyrexia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005334"
- },
- {
- "val": "SNOMEDCT_US:386661006"
- },
- {
- "val": "SNOMEDCT_US:50177009"
- },
- {
- "val": "UMLS:C0015967"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001946",
- "lbl": "Ketosis",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- ],
- "comments": [
- "Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate."
- ],
- "definition": {
- "val": "Presence of elevated levels of ketone bodies in the body.",
- "xrefs": [
- "HPO:probinson",
- "PMID:28278308"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "High levels of ketone bodies",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperketosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007662"
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- {
- "val": "SNOMEDCT_US:213281004"
- },
- {
- "val": "SNOMEDCT_US:2538008"
- },
- {
- "val": "UMLS:C0022638"
- },
- {
- "val": "UMLS:C0235430"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001947",
- "lbl": "Renal tubular acidosis",
- "meta": {
- "definition": {
- "val": "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accumulation of acid in body due to kidney problem",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000141"
- },
- {
- "val": "SNOMEDCT_US:1776003"
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- {
- "val": "UMLS:C0001126"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001948",
- "lbl": "Alkalosis",
- "meta": {
- "comments": [
- "When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis."
- ],
- "definition": {
- "val": "Depletion of acid or accumulation base in the body fluids.",
- "xrefs": [
- "HPO:probinson",
- "PMID:24381489"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000471"
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- {
- "val": "SNOMEDCT_US:21420006"
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- {
- "val": "UMLS:C0002063"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001949",
- "lbl": "Hypokalemic alkalosis",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:22774003"
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- {
- "val": "UMLS:C0085570"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001950",
- "lbl": "Respiratory alkalosis",
- "meta": {
- "definition": {
- "val": "Alkalosis due to excess loss of carbon dioxide from the body.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000472"
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- {
- "val": "SNOMEDCT_US:111378004"
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- {
- "val": "UMLS:C0002064"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001951",
- "lbl": "Episodic ammonia intoxication",
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- "xrefs": [
- {
- "val": "UMLS:C1839541"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001952",
- "lbl": "Glucose intolerance",
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- ],
- "definition": {
- "val": "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).",
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- "PMID:29763085"
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- "synonyms": [
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- "val": "Abnormal glucose tolerance"
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- "xrefs": [
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- "val": "UMLS:C0235401"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001953",
- "lbl": "Diabetic ketoacidosis",
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- ],
- "definition": {
- "val": "A type of diabetic metabolic abnormality with an accumulation of ketone bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Diabetic ketosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016883"
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- {
- "val": "SNOMEDCT_US:420422005"
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- {
- "val": "UMLS:C0011880"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0001954",
- "lbl": "Recurrent fever",
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- "val": "HP:0005980"
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- ],
- "definition": {
- "val": "Periodic (episodic or recurrent) bouts of fever.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased body temperature, episodic"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent fever"
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- {
- "pred": "hasExactSynonym",
- "val": "Hyperthermia, episodic"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:77957000"
- },
- {
- "val": "UMLS:C0277799"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001955",
- "lbl": "Unexplained fevers",
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- "definition": {
- "val": "Episodes of fever for which no infectious cause can be identified.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- ],
- "xrefs": [
- {
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001956",
- "lbl": "Truncal obesity",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- ],
- "definition": {
- "val": "Obesity located preferentially in the trunk of the body as opposed to the extremities.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Truncal obesity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Centripetal obesity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D056128"
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- {
- "val": "SNOMEDCT_US:248311001"
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- {
- "val": "UMLS:C0311277"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001958",
- "lbl": "Nonketotic hypoglycemia",
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- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001959",
- "lbl": "Polydipsia",
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- "definition": {
- "val": "Excessive thirst manifested by excessive fluid intake."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Extreme thirst",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D059606"
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- "val": "SNOMEDCT_US:17173007"
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- "val": "SNOMEDCT_US:267026004"
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- {
- "val": "UMLS:C0085602"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001960",
- "lbl": "Hypokalemic metabolic alkalosis",
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- "xrefs": [
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001961",
- "lbl": "Hypoplastic heart",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small heart",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped heart",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3151525"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001962",
- "lbl": "Palpitations",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001676"
- }
- ],
- "definition": {
- "val": "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missed heart beat"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Palpitations"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skipped heart beat"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Heart palpitations"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:80313002"
- },
- {
- "val": "UMLS:C0030252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001963",
- "lbl": "Abnormal speech discrimination",
- "meta": {
- "definition": {
- "val": "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal speech discrimination"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor speech discrimination"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001964",
- "lbl": "Aplasia/Hypoplasia of metatarsal bones",
- "meta": {
- "definition": {
- "val": "Absence or underdevelopment of the metatarsal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small long bone of foot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped long bone of foot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent or hypoplastic metatarsal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/hypoplastic metacarpals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/hypoplastic metatarsals"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic/hypoplastic metatarsals"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001965",
- "lbl": "Abnormal scalp morphology",
- "meta": {
- "comments": [
- "The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones."
- ],
- "definition": {
- "val": "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the scalp"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of scalp",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025734"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001966",
- "lbl": "Abnormal glomerular mesangium morphology",
- "meta": {
- "comments": [
- "Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane."
- ],
- "definition": {
- "val": "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19470685",
- "PMID:20828589"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality glomerular mesangium morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the glomerular mesangium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mesangial abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001967",
- "lbl": "Diffuse mesangial sclerosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004728"
- }
- ],
- "comments": [
- "This finding can be demonstrated by renal biopsy."
- ],
- "definition": {
- "val": "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse mesangial sclerosis glomerulopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mesangial sclerosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537346"
- },
- {
- "val": "SNOMEDCT_US:111406002"
- },
- {
- "val": "UMLS:C0268747"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001969",
- "lbl": "Abnormal tubulointerstitial morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008654"
- }
- ],
- "definition": {
- "val": "An abnormality that involves the tubules and interstitial tissue of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tubulointerstitial abnormality"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Tubulointerstitial nephropathy"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009395"
- },
- {
- "val": "SNOMEDCT_US:28689008"
- },
- {
- "val": "SNOMEDCT_US:428255004"
- },
- {
- "val": "UMLS:C0041349"
- },
- {
- "val": "UMLS:C4025732"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001970",
- "lbl": "Tubulointerstitial nephritis",
- "meta": {
- "definition": {
- "val": "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.",
- "xrefs": [
- "HP:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Interstitial nephritis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nephritis, Tubulointerstitial"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009395"
- },
- {
- "val": "SNOMEDCT_US:28689008"
- },
- {
- "val": "SNOMEDCT_US:428255004"
- },
- {
- "val": "UMLS:C0041349"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001971",
- "lbl": "Hypersplenism",
- "meta": {
- "comments": [
- "The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly)."
- ],
- "definition": {
- "val": "A malfunctioning of the spleen in which it prematurely destroys red blood cells.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006971"
- },
- {
- "val": "SNOMEDCT_US:58381000"
- },
- {
- "val": "UMLS:C0020532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001972",
- "lbl": "Macrocytic anemia",
- "meta": {
- "comments": [
- "The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes."
- ],
- "definition": {
- "val": "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19202968"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Macrocytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000748"
- },
- {
- "val": "SNOMEDCT_US:83414005"
- },
- {
- "val": "UMLS:C0002886"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001973",
- "lbl": "Autoimmune thrombocytopenia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001936"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004806"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004829"
- }
- ],
- "comments": [
- "Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection."
- ],
- "definition": {
- "val": "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.",
- "xrefs": [
- "DDD:wouwehand"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Idiopathic thrombocytopenia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Immune thrombocytopenia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Idiopathic thrombocytopenic purpura"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016553"
- },
- {
- "val": "SNOMEDCT_US:128091003"
- },
- {
- "val": "SNOMEDCT_US:13172003"
- },
- {
- "val": "SNOMEDCT_US:234490009"
- },
- {
- "val": "SNOMEDCT_US:32273002"
- },
- {
- "val": "UMLS:C0242584"
- },
- {
- "val": "UMLS:C0398650"
- },
- {
- "val": "UMLS:C0920163"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001974",
- "lbl": "Leukocytosis",
- "meta": {
- "definition": {
- "val": "An abnormal increase in the number of leukocytes in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated white blood count"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High white blood count"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased blood leukocyte number",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007964"
- },
- {
- "val": "SNOMEDCT_US:111583006"
- },
- {
- "val": "UMLS:C0023518"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001975",
- "lbl": "Decreased platelet glycoprotein IIb-IIIa",
- "meta": {
- "comments": [
- "The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation."
- ],
- "definition": {
- "val": "Decreased cell membrane concentration of glycoprotein IIb-IIIa.",
- "xrefs": [
- "DDD:ouwehand"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Reduced level of platelet glycoprotein IIb/IIIa complex"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Glanzmann thrombasthenia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013915"
- },
- {
- "val": "SNOMEDCT_US:32942005"
- },
- {
- "val": "UMLS:C0040015"
- },
- {
- "val": "UMLS:C4021767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001976",
- "lbl": "Reduced antithrombin III activity",
- "meta": {
- "comments": [
- "Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway."
- ],
- "definition": {
- "val": "An abnormality of coagulation related to a decreased concentration of antithrombin-III.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anti-thrombin III deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antithrombin III deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased antithrombin III"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020152"
- },
- {
- "val": "SNOMEDCT_US:36351005"
- },
- {
- "val": "UMLS:C0272375"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001977",
- "lbl": "Abnormal thrombosis",
- "meta": {
- "definition": {
- "val": "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal blood clot",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal blood clotting"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025731"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001978",
- "lbl": "Extramedullary hematopoiesis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004847"
- }
- ],
- "comments": [
- "During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis."
- ],
- "definition": {
- "val": "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Extramedullary erythropoiesis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124958002"
- },
- {
- "val": "SNOMEDCT_US:42952007"
- },
- {
- "val": "UMLS:C1292120"
- },
- {
- "val": "UMLS:C2613439"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001980",
- "lbl": "Megaloblastic bone marrow",
- "meta": {
- "comments": [
- "A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure."
- ],
- "definition": {
- "val": "Abnormal increased number of megaloblasts in the bone marrow.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:167921008"
- },
- {
- "val": "UMLS:C0238801"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001981",
- "lbl": "Schistocytosis",
- "meta": {
- "definition": {
- "val": "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Schistocytes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:385472000"
- },
- {
- "val": "UMLS:C0344386"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001982",
- "lbl": "Sea-blue histiocytosis",
- "meta": {
- "definition": {
- "val": "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8797061"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Sea-blue histiocyte"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012618"
- },
- {
- "val": "SNOMEDCT_US:37821003"
- },
- {
- "val": "UMLS:C0036489"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001983",
- "lbl": "Reduced lymphocyte surface expression of CD43",
- "meta": {
- "comments": [
- "CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes."
- ],
- "definition": {
- "val": "A reduction in the expression of CD43 on the cell surface of lymphocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cd43 defectively expressed on surface of blood cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced lymphocyte surface expression of sialophorin"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021766"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001984",
- "lbl": "Intolerance to protein",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1396243"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001985",
- "lbl": "Hypoketotic hypoglycemia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005969"
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- ],
- "comments": [
- "Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better."
- ],
- "definition": {
- "val": "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoglycemia, hypoketotic"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856438"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001986",
- "lbl": "Hypertonic dehydration",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperosmolar dehydration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1112601"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001987",
- "lbl": "Hyperammonemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008308"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008334"
- }
- ],
- "definition": {
- "val": "An increased concentration of ammonia in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High blood ammonia levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D022124"
- },
- {
- "val": "SNOMEDCT_US:9360008"
- },
- {
- "val": "UMLS:C0220994"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001988",
- "lbl": "Recurrent hypoglycemia",
- "meta": {
- "definition": {
- "val": "Recurrent episodes of decreased concentration of glucose in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent low blood sugar levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoglycemic episodes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent hypoglycaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent hypoglycemic episodes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "hypoglycaemia, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "hypoglycemia, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846288"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001989",
- "lbl": "Fetal akinesia sequence",
- "meta": {
- "definition": {
- "val": "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal akinesia sequence"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Early severe foetal akinesia sequence"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal akinesia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Early severe fetal akinesia sequence",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Fetal akinesia",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536647"
- },
- {
- "val": "SNOMEDCT_US:401138005"
- },
- {
- "val": "UMLS:C1276035"
- },
- {
- "val": "UMLS:C3151520"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001991",
- "lbl": "Aplasia/Hypoplasia of toe",
- "meta": {
- "definition": {
- "val": "Absence or hypoplasia of toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped toe",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic/hypoplastic toe phalanges"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Absent/hypoplastic toes",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3551148"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001992",
- "lbl": "Organic aciduria",
- "meta": {
- "definition": {
- "val": "Excretion of non-amino organic acids in urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0241775"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001993",
- "lbl": "Ketoacidosis",
- "meta": {
- "comments": [
- "Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism."
- ],
- "definition": {
- "val": "Acidosis resulting from accumulation of ketone bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:56051008"
- },
- {
- "val": "UMLS:C0220982"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001994",
- "lbl": "Renal Fanconi syndrome",
- "meta": {
- "definition": {
- "val": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "De toni-fanconi-debre syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal tubular fanconi syndrome"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005198"
- },
- {
- "val": "SNOMEDCT_US:236468006"
- },
- {
- "val": "SNOMEDCT_US:44673006"
- },
- {
- "val": "UMLS:C0341703"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001995",
- "lbl": "Hyperchloremic acidosis",
- "meta": {
- "definition": {
- "val": "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.",
- "xrefs": [
- "PMID:29493965"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:18104000"
- },
- {
- "val": "UMLS:C0085569"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001996",
- "lbl": "Chronic metabolic acidosis",
- "meta": {
- "comments": [
- "Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function."
- ],
- "definition": {
- "val": "Longstanding metabolic acidosis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15882309"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0740749"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001997",
- "lbl": "Gout",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001368"
- }
- ],
- "definition": {
- "val": "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gouty arthritis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006073"
- },
- {
- "val": "MSH:D015210"
- },
- {
- "val": "SNOMEDCT_US:170733007"
- },
- {
- "val": "SNOMEDCT_US:190828008"
- },
- {
- "val": "SNOMEDCT_US:48440001"
- },
- {
- "val": "SNOMEDCT_US:90560007"
- },
- {
- "val": "UMLS:C0003868"
- },
- {
- "val": "UMLS:C0018099"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001998",
- "lbl": "Neonatal hypoglycemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood sugar in newborn",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:52767006"
- },
- {
- "val": "UMLS:C0158986"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0001999",
- "lbl": "Abnormal facial shape",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002004"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002260"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004643"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004649"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004652"
- },
- {
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- "val": "HP:0004655"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004675"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005124"
- }
- ],
- "comments": [
- "This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised."
- ],
- "definition": {
- "val": "An abnormal morphology (form) of the face or its components.",
- "xrefs": [
- "DDD:jclayton-smith"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal facial shape"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unusual facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Distortion of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Funny looking face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distinctive facies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysmorphic facial features"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Unusual facies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal morphology of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysmorphic facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Facial dysmorphism",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248200007"
- },
- {
- "val": "SNOMEDCT_US:32003007"
- },
- {
- "val": "SNOMEDCT_US:398206004"
- },
- {
- "val": "SNOMEDCT_US:398302004"
- },
- {
- "val": "UMLS:C0266617"
- },
- {
- "val": "UMLS:C0424503"
- },
- {
- "val": "UMLS:C1385263"
- },
- {
- "val": "UMLS:C4072832"
- },
- {
- "val": "UMLS:C4072833"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002000",
- "lbl": "Short columella",
- "meta": {
- "comments": [
- "This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis."
- ],
- "definition": {
- "val": "Reduced distance from the anterior border of the naris to the subnasale.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Columella, short"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased length of columella",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypoplasia of columella",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857479"
- },
- {
- "val": "UMLS:C4280585"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002002",
- "lbl": "Deep philtrum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000305"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004654"
- }
- ],
- "comments": [
- "Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges."
- ],
- "definition": {
- "val": "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Philtrum, deep"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent philtrum"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Depressed philtrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased depth of philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pronounced philtrum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839797"
- },
- {
- "val": "UMLS:C4020861"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002003",
- "lbl": "Large forehead",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased size of frontal region of face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hyperplasia of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hypertrophy of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839783"
- },
- {
- "val": "UMLS:C4280583"
- },
- {
- "val": "UMLS:C4280584"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002006",
- "lbl": "Facial cleft",
- "meta": {
- "comments": [
- "The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations."
- ],
- "definition": {
- "val": "A congenital malformation with a cleft (gap or opening) in the face.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial cleft"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft of the face",
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- "Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain."
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- "definition": {
- "val": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.",
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- "HPO:probinson"
- ]
- },
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- ],
- "synonyms": [
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gastro pain"
- },
- {
- "pred": "hasBroadSynonym",
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- "val": "Gastrointestinal pain"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abdominal pain"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pain in stomach"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abdominal discomfort"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stomach pain",
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- "ORCID:0000-0002-0736-9199"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upset stomach",
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- "ORCID:0000-0001-6439-2224"
- ]
- }
- ],
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- {
- "val": "MEDDRA:10000081"
- },
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- "val": "MSH:D015746"
- },
- {
- "val": "SNOMEDCT_US:21522001"
- },
- {
- "val": "UMLS:C0000737"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002028",
- "lbl": "Chronic diarrhea",
- "meta": {
- "definition": {
- "val": "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
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- },
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Chronic diarrhoea"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Recurrent diarrhoea"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diarrhea, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent diarrhea",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:236071009"
- },
- {
- "val": "UMLS:C0401151"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002031",
- "lbl": "Abnormal esophagus morphology",
- "meta": {
- "definition": {
- "val": "A structural abnormality of the esophagus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of esophagus structure"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal oesophagus morphology"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of oesophagus structure"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Anomaly of the oesophagus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the esophagus"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:69771008"
- },
- {
- "val": "UMLS:C0266126"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002032",
- "lbl": "Esophageal atresia",
- "meta": {
- "definition": {
- "val": "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Birth defect in which part of oesophagus did not develop"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Birth defect in which part of esophagus did not develop",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4412"
- },
- {
- "val": "MSH:D004933"
- },
- {
- "val": "SNOMEDCT_US:26179002"
- },
- {
- "val": "UMLS:C0014850"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002033",
- "lbl": "Poor suck",
- "meta": {
- "definition": {
- "val": "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.",
- "xrefs": [
- "HPO:pnrobinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor suck"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor sucking",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sucking weakness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837142"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002034",
- "lbl": "Abnormal rectum morphology",
- "meta": {
- "definition": {
- "val": "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the rectum"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the rectum"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:86993003"
- },
- {
- "val": "UMLS:C0266210"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002035",
- "lbl": "Rectal prolapse",
- "meta": {
- "definition": {
- "val": "Protrusion of the rectal mucous membrane through the anus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rectum protrudes through anus",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Rectal prolapsed",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10038077"
- },
- {
- "val": "MSH:D012005"
- },
- {
- "val": "SNOMEDCT_US:57773001"
- },
- {
- "val": "UMLS:C0034888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002036",
- "lbl": "Hiatus hernia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-20T11:28:00Z"
- }
- ],
- "comments": [
- "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)."
- ],
- "definition": {
- "val": "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stomach hernia",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hiatal hernia"
- }
- ],
- "xrefs": [
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- "val": "MEDDRA:10020028"
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- {
- "val": "MSH:D006551"
- },
- {
- "val": "SNOMEDCT_US:84089009"
- },
- {
- "val": "UMLS:C3489393"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002037",
- "lbl": "Inflammation of the large intestine",
- "meta": {
- "definition": {
- "val": "Inflammation, or an inflammatory state in the large intestine."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammation of the large intestine"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammatory bowel disease"
- }
- ],
- "xrefs": [
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- "val": "MSH:D015212"
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- {
- "val": "SNOMEDCT_US:24526004"
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- "val": "UMLS:C0021390"
- },
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- "val": "UMLS:C0578878"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002038",
- "lbl": "Protein avoidance",
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- "val": "UMLS:C1839531"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002039",
- "lbl": "Anorexia",
- "meta": {
- "comments": [
- "Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat)."
- ],
- "definition": {
- "val": "A lack or loss of appetite for food (as a medical condition).",
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- "synonyms": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002040",
- "lbl": "Esophageal varix",
- "meta": {
- "comments": [
- "Esophageal varices are most often a consequence of portal hypertension."
- ],
- "definition": {
- "val": "Extreme dilation of the submucusoal veins in the lower portion of the esophagus.",
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- ]
- },
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- ],
- "synonyms": [
- {
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- "val": "Enlarged vein in oesophagus"
- },
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged vein in esophagus",
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Esophageal varices"
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- ],
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- },
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- },
- {
- "val": "UMLS:C0014867"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002041",
- "lbl": "Intractable diarrhea",
- "meta": {
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
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- }
- ],
- "xrefs": [
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002043",
- "lbl": "Esophageal stricture",
- "meta": {
- "comments": [
- "Gastroesophageal reflux is a common cause of esophageal stricture."
- ],
- "definition": {
- "val": "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.",
- "xrefs": [
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- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Narrowing of oesophagus due to inflammation and scar tissue"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of esophagus due to inflammation and scar tissue",
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- ]
- }
- ],
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002044",
- "lbl": "Zollinger-Ellison syndrome",
- "meta": {
- "comments": [
- "Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1."
- ],
- "definition": {
- "val": "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.",
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- },
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- ],
- "xrefs": [
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- "val": "MSH:D015043"
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- "val": "SNOMEDCT_US:53132006"
- },
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- "val": "UMLS:C0043515"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002045",
- "lbl": "Hypothermia",
- "meta": {
- "comments": [
- "A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F)."
- ],
- "definition": {
- "val": "Reduced body temperature due to failed thermoregulation.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormally low body temperature",
- "xrefs": [
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- }
- ],
- "xrefs": [
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- "val": "MSH:D007035"
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- {
- "val": "SNOMEDCT_US:386689009"
- },
- {
- "val": "UMLS:C0020672"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002046",
- "lbl": "Heat intolerance",
- "meta": {
- "comments": [
- "Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis."
- ],
- "definition": {
- "val": "The inability to maintain a comfortable body temperature in warm or hot weather.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
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- ],
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heat intolerance"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Intolerance to heat and fevers"
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- ],
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- },
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- "val": "UMLS:C0231274"
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- "type": "CLASS"
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- "lbl": "Malignant hyperthermia",
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- "val": "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.",
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- "val": "Malignant hyperthermia with anesthesia"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002048",
- "lbl": "Renal cortical atrophy",
- "meta": {
- "definition": {
- "val": "Atrophy of the cortex of the kidney.",
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- },
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- },
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- "id": "http://purl.obolibrary.org/obo/HP_0002049",
- "lbl": "Proximal renal tubular acidosis",
- "meta": {
- "definition": {
- "val": "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- "val": "Proximal tubular acidosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal tubular acidosis, proximal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal tubular acidosis, type II"
- }
- ],
- "xrefs": [
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- },
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- "val": "SNOMEDCT_US:24790002"
- },
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- "val": "UMLS:C0268435"
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0002050",
- "lbl": "Macroorchidism, postpubertal",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002054",
- "lbl": "Heavy supraorbital ridges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Heavy brow of the face",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Heavy supraorbital ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845107"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002055",
- "lbl": "Curved linear dimple below the lower lip",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1844572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002056",
- "lbl": "Abnormality of the glabella",
- "meta": {
- "definition": {
- "val": "An abnormality of the glabella.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the area between the eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the area between the eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the area between the eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glabellar abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021763"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002057",
- "lbl": "Prominent glabella",
- "meta": {
- "comments": [
- "The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root."
- ],
- "definition": {
- "val": "Forward protrusion of the glabella.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent area between the eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protruding area between the eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Convex glabella",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplasia of glabella",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860247"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002058",
- "lbl": "Myopathic facies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004647"
- }
- ],
- "definition": {
- "val": "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Myopathic face"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myopathic facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:26432009"
- },
- {
- "val": "UMLS:C0332615"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002059",
- "lbl": "Cerebral atrophy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002422"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006890"
- }
- ],
- "comments": [
- "Atrophy may be progressive over time."
- ],
- "definition": {
- "val": "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Degeneration of cerebrum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Supratentorial atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:278849000"
- },
- {
- "val": "SNOMEDCT_US:418143002"
- },
- {
- "val": "SNOMEDCT_US:52522001"
- },
- {
- "val": "UMLS:C0154671"
- },
- {
- "val": "UMLS:C0235946"
- },
- {
- "val": "UMLS:C4020860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002060",
- "lbl": "Abnormal cerebral morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the telencephalon, which is also known as the cerebrum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cerebrum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the telencephalon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral lesion"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021762"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002061",
- "lbl": "Lower limb spasticity",
- "meta": {
- "definition": {
- "val": "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis",
- "xrefs": [
- "HPO:probinson",
- "UKT:rschuele"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:394679006"
- },
- {
- "val": "UMLS:C1271100"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002062",
- "lbl": "Morphological abnormality of the pyramidal tract",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0012445"
- }
- ],
- "comments": [
- "The pyramidal tracts comprise both the corticospinal and corticobulbar tracts."
- ],
- "definition": {
- "val": "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the pyramidal tracts"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pyramidal tract disease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020859"
- },
- {
- "val": "UMLS:C4021761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002063",
- "lbl": "Rigidity",
- "meta": {
- "comments": [
- "Rigidity is often a manifestation of basal ganglia diseases."
- ],
- "definition": {
- "val": "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle rigidity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rigidity"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009127"
- },
- {
- "val": "SNOMEDCT_US:16046003"
- },
- {
- "val": "UMLS:C0026837"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002064",
- "lbl": "Spastic gait",
- "meta": {
- "definition": {
- "val": "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.",
- "xrefs": [
- "PMID:25649546"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spastic walk",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020233"
- },
- {
- "val": "SNOMEDCT_US:9447003"
- },
- {
- "val": "UMLS:C0231687"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002066",
- "lbl": "Gait ataxia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002379"
- }
- ],
- "definition": {
- "val": "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.",
- "xrefs": [
- "HPO:probinson",
- "UKT:rschuele"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to coordinate movements when walking",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ataxia of gait"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ataxic gait"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020234"
- },
- {
- "val": "SNOMEDCT_US:25136009"
- },
- {
- "val": "UMLS:C0751837"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002067",
- "lbl": "Bradykinesia",
- "meta": {
- "definition": {
- "val": "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slowness of movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow movements",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018476"
- },
- {
- "val": "SNOMEDCT_US:399317006"
- },
- {
- "val": "UMLS:C0233565"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002068",
- "lbl": "Neuromuscular dysphagia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025729"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002069",
- "lbl": "Bilateral tonic-clonic seizure",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001306"
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- "val": "HP:0002407"
- },
- {
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- "val": "HP:0007252"
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- ],
- "comments": [
- "A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure."
- ],
- "definition": {
- "val": "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.",
- "xrefs": [
- "HPO:pnrobinson",
- "PMID:28276060"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Grand mal seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised convulsion"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Tonic-clonic convulsions",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral convulsive seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalised tonic-clonic seizure (without specification of onset)"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized convulsion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized tonic-clonic seizure (without specification of onset)"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Grand mal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Seizures, tonic-clonic"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tonic-clonic convulsion",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012640"
- },
- {
- "val": "SNOMEDCT_US:54200006"
- },
- {
- "val": "UMLS:C0494475"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002070",
- "lbl": "Limb ataxia",
- "meta": {
- "comments": [
- "Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways."
- ],
- "definition": {
- "val": "A kind of ataxia that affects movements of the extremities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Appendicular ataxia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001259"
- },
- {
- "val": "UMLS:C0750937"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002071",
- "lbl": "Abnormality of extrapyramidal motor function",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007113"
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- ],
- "comments": [
- "The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed."
- ],
- "definition": {
- "val": "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Extrapyramidal dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extrapyramidal signs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extrapyramidal symptoms"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extrapyramidal syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extrapyramidal tract signs"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001480"
- },
- {
- "val": "SNOMEDCT_US:43378000"
- },
- {
- "val": "SNOMEDCT_US:76349003"
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- {
- "val": "UMLS:C0015371"
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- {
- "val": "UMLS:C0234133"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002072",
- "lbl": "Chorea",
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- ],
- "definition": {
- "val": "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.",
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- "HPO:probinson",
- "PMID:20589866"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Choreic movements"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Choreiform movements"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Choreatic disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002819"
- },
- {
- "val": "SNOMEDCT_US:271700006"
- },
- {
- "val": "UMLS:C0008489"
- },
- {
- "val": "UMLS:C4020858"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002073",
- "lbl": "Progressive cerebellar ataxia",
- "meta": {
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- "val": "HP:0007331"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Cerebellar ataxia, progressive"
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- {
- "pred": "hasExactSynonym",
- "val": "Progressive ataxia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:230233000"
- },
- {
- "val": "UMLS:C0393525"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002074",
- "lbl": "Increased neuronal autofluorescent lipopigment",
- "meta": {
- "definition": {
- "val": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11406682"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Neuronal lipopigments"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020857"
- },
- {
- "val": "UMLS:C4025728"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002075",
- "lbl": "Dysdiadochokinesis",
- "meta": {
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- {
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- "val": "HP:0002426"
- }
- ],
- "comments": [
- "Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion."
- ],
- "definition": {
- "val": "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.",
- "xrefs": [
- "HPO:probinson",
- "HPO:zaferyueksel",
- "UKB:tklockgether"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty performing quick and alternating movements",
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- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysdiadochokinesia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:23133003"
- },
- {
- "val": "UMLS:C0234979"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002076",
- "lbl": "Migraine",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007194"
- }
- ],
- "definition": {
- "val": "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15304572"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent migraine headaches"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Migraine"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Migraine headache"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Migraine headaches"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008881"
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- {
- "val": "SNOMEDCT_US:37796009"
- },
- {
- "val": "UMLS:C0149931"
- },
- {
- "val": "UMLS:C0744641"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002077",
- "lbl": "Migraine with aura",
- "meta": {
- "definition": {
- "val": "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15304572"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D020325"
- },
- {
- "val": "SNOMEDCT_US:4473006"
- },
- {
- "val": "UMLS:C0154723"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002078",
- "lbl": "Truncal ataxia",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007014"
- }
- ],
- "comments": [
- "Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support."
- ],
- "definition": {
- "val": "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.",
- "xrefs": [
- "HPO:probinson",
- "UKT:rschuele"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Instability or lack of coordination of central trunk muscles",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Trunk ataxia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001259"
- },
- {
- "val": "SNOMEDCT_US:250067008"
- },
- {
- "val": "UMLS:C0427190"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002079",
- "lbl": "Hypoplasia of the corpus callosum",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002319"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007026"
- }
- ],
- "comments": [
- "The corpus callosum appears thin in midline views of the brain in neuroradiological images."
- ],
- "definition": {
- "val": "Underdevelopment of the corpus callosum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21263138"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of part of brain called corpus callosum",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corpus callosum hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of corpus callosum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic corpus callosum"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204043002"
- },
- {
- "val": "UMLS:C0344482"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002080",
- "lbl": "Intention tremor",
- "meta": {
- "definition": {
- "val": "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).",
- "xrefs": [
- "HPO:probinson",
- "PMID:16344298"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Cerebellar tremor"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Terminal tremor"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014202"
- },
- {
- "val": "SNOMEDCT_US:30721006"
- },
- {
- "val": "UMLS:C0234376"
- },
- {
- "val": "UMLS:C4020856"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002083",
- "lbl": "Migraine without aura",
- "meta": {
- "comments": [
- "The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis."
- ],
- "definition": {
- "val": "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15304572"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D020326"
- },
- {
- "val": "SNOMEDCT_US:56097005"
- },
- {
- "val": "UMLS:C0338480"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002084",
- "lbl": "Encephalocele",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002736"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100664"
- }
- ],
- "comments": [
- "A congenital gap in the skull that usually results in a protrusion of brain material."
- ],
- "definition": {
- "val": "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bifid skull"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranium bifidum"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004677"
- },
- {
- "val": "SNOMEDCT_US:253101008"
- },
- {
- "val": "SNOMEDCT_US:48777005"
- },
- {
- "val": "SNOMEDCT_US:55999004"
- },
- {
- "val": "UMLS:C0014065"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002085",
- "lbl": "Occipital encephalocele",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007051"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007357"
- }
- ],
- "definition": {
- "val": "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.",
- "xrefs": [
- "DDD:awilkie",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Brain tissue sticks out through back of skull",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Occipital meningoencephalocele"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior encephalocele"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004677"
- },
- {
- "val": "SNOMEDCT_US:42376006"
- },
- {
- "val": "UMLS:C0014067"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002086",
- "lbl": "Abnormality of the respiratory system",
- "meta": {
- "definition": {
- "val": "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Respiratory abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4018871"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002087",
- "lbl": "Abnormality of the upper respiratory tract",
- "meta": {
- "definition": {
- "val": "An abnormality of the upper respiratory tract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the upper respiratory tract"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upper respiratory tract issues"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025727"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002088",
- "lbl": "Abnormal lung morphology",
- "meta": {
- "definition": {
- "val": "Any structural anomaly of the lung.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of lung structure"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lungs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally shaped lung"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unusal lung shape"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lung disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008171"
- },
- {
- "val": "SNOMEDCT_US:19829001"
- },
- {
- "val": "UMLS:C0024115"
- },
- {
- "val": "UMLS:C4021760"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002089",
- "lbl": "Pulmonary hypoplasia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poorly developed lungs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small lung",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped lung",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic lung"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic lungs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lung hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:80825009"
- },
- {
- "val": "UMLS:C0265783"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002090",
- "lbl": "Pneumonia",
- "meta": {
- "definition": {
- "val": "Inflammation of any part of the lung parenchyma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pneumonia"
- }
- ],
- "xrefs": [
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- "val": "MSH:D011014"
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- {
- "val": "SNOMEDCT_US:233604007"
- },
- {
- "val": "UMLS:C0032285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002091",
- "lbl": "Restrictive ventilatory defect",
- "meta": {
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- "val": "HP:0002111"
- }
- ],
- "comments": [
- "The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity."
- ],
- "definition": {
- "val": "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.",
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- "NIHR:ldaugherty",
- "PMID:28194273"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stiff lung or chest wall causing decreased lung volume",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Restrictive deficit on pulmonary function testing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Restrictive deficit on pulmonary function tests"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Restrictive respiratory disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Restrictive respiratory insufficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Restrictive respiratory syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spirometric restriction"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Restrictive lung disease",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:36485005"
- },
- {
- "val": "UMLS:C0085581"
- },
- {
- "val": "UMLS:C3277226"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002092",
- "lbl": "Pulmonary arterial hypertension",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006546"
- }
- ],
- "comments": [
- "Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used."
- ],
- "definition": {
- "val": "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased blood pressure in blood vessels of lungs",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary artery hypertension"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Primary pulmonary hypertension",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006976"
- },
- {
- "val": "MSH:D065627"
- },
- {
- "val": "SNOMEDCT_US:11399002"
- },
- {
- "val": "SNOMEDCT_US:697898008"
- },
- {
- "val": "SNOMEDCT_US:70995007"
- },
- {
- "val": "UMLS:C0020542"
- },
- {
- "val": "UMLS:C2973725"
- },
- {
- "val": "UMLS:C3203102"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002093",
- "lbl": "Respiratory insufficiency",
- "meta": {
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- "val": "HP:0005937"
- },
- {
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- "val": "HP:0006542"
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- ],
- "synonyms": [
- {
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- "val": "Respiratory impairment"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Respiratory function loss"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012131"
- },
- {
- "val": "SNOMEDCT_US:409623005"
- },
- {
- "val": "UMLS:C0035229"
- },
- {
- "val": "UMLS:C4020855"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002094",
- "lbl": "Dyspnea",
- "meta": {
- "definition": {
- "val": "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.",
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- "val": "Difficulty breathing"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "definition": {
- "val": "A developmental defect in the formation of pulmonary lobes.",
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- "pred": "hasExactSynonym",
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- "val": "HP:0006902"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007075"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007202"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007284"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007294"
- }
- ],
- "definition": {
- "val": "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.",
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- "PMID:28276064"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Generalized myoclonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised myoclonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalised epileptic myoclonus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalised myoclonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized epileptic myoclonus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myoclonus seizures"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Myoclonic epilepsy, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004831"
- },
- {
- "val": "MSH:D020191"
- },
- {
- "val": "SNOMEDCT_US:192992007"
- },
- {
- "val": "SNOMEDCT_US:267581004"
- },
- {
- "val": "SNOMEDCT_US:37356005"
- },
- {
- "val": "UMLS:C0014550"
- },
- {
- "val": "UMLS:C0751778"
- },
- {
- "val": "UMLS:C4021759"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002126",
- "lbl": "Polymicrogyria",
- "meta": {
- "comments": [
- "Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination."
- ],
- "definition": {
- "val": "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).",
- "xrefs": [
- "COST:neuromig",
- "HPO:probinson",
- "PMID:24888723"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "More grooves in brain",
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- "https://orcid.org/0000-0001-5208-3432",
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- }
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- "xrefs": [
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- "val": "MSH:D065706"
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- {
- "val": "SNOMEDCT_US:4945003"
- },
- {
- "val": "UMLS:C0266464"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002127",
- "lbl": "Abnormal upper motor neuron morphology",
- "meta": {
- "comments": [
- "previous def: 'has part' some \n(quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "Any structural anomaly that affects the upper motor neuron."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of upper motor neuron",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025723"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002131",
- "lbl": "Episodic ataxia",
- "meta": {
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- "val": "HP:0007152"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007214"
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- ],
- "definition": {
- "val": "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Intermittent cerebellar ataxia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Paroxysmal ataxia"
- }
- ],
- "xrefs": [
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- "val": "MSH:C580065"
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- {
- "val": "SNOMEDCT_US:421455009"
- },
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- "val": "UMLS:C1720189"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002132",
- "lbl": "Porencephalic cyst",
- "meta": {
- "comments": [
- "Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies."
- ],
- "definition": {
- "val": "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.",
- "xrefs": [
- "HPO:probinson",
- "PMID:9279052"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Cavity within brain",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
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- }
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- "xrefs": [
- {
- "val": "MSH:D065708"
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- {
- "val": "UMLS:C4082173"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002133",
- "lbl": "Status epilepticus",
- "meta": {
- "comments": [
- "In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown."
- ],
- "definition": {
- "val": "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Repeated seizures without recovery between them",
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- "ORCID:0000-0002-6548-5200"
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- {
- "pred": "hasExactSynonym",
- "val": "Prolonged seizure"
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- {
- "pred": "hasExactSynonym",
- "val": "Repeated seizure without recovery"
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- ],
- "xrefs": [
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- "val": "MSH:D013226"
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- {
- "val": "SNOMEDCT_US:230456007"
- },
- {
- "val": "UMLS:C0038220"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002134",
- "lbl": "Abnormal basal ganglia morphology",
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- "comments": [
- "The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal."
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- "definition": {
- "val": "Abnormality of the basal ganglia.",
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- "synonyms": [
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- "val": "Abnormality of the basal ganglia"
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- "pred": "hasExactSynonym",
- "val": "Anomaly of the basal ganglia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Basal ganglia disease"
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- "xrefs": [
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- "val": "MSH:D001480"
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- "val": "SNOMEDCT_US:70835005"
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- "val": "UMLS:C0004782"
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- "type": "CLASS"
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- "lbl": "Basal ganglia calcification",
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- "definition": {
- "val": "The presence of calcium deposition affecting one or more structures of the basal ganglia.",
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- "synonyms": [
- {
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- "val": "Basal ganglia calcifications"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Basal ganglion calcification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Calcification of the basal ganglia"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1389280"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002136",
- "lbl": "Broad-based gait",
- "meta": {
- "definition": {
- "val": "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.",
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- "HPO:curators"
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- },
- "synonyms": [
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- "val": "Wide based walk",
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Broad based gait"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide based gait"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide-based gait"
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- ],
- "xrefs": [
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- "val": "UMLS:C0856863"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002138",
- "lbl": "Subarachnoid hemorrhage",
- "meta": {
- "comments": [
- "Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury."
- ],
- "definition": {
- "val": "Hemorrhage occurring between the arachnoid mater and the pia mater.",
- "xrefs": [
- "HPO:sdoelken"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Subarachnoid haemorrhage"
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- ],
- "xrefs": [
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- "val": "MSH:D013345"
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- {
- "val": "SNOMEDCT_US:21454007"
- },
- {
- "val": "UMLS:C0038525"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002139",
- "lbl": "Arrhinencephaly",
- "meta": {
- "xrefs": [
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- "val": "MSH:D016142"
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- "val": "UMLS:C0078982"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002140",
- "lbl": "Ischemic stroke",
- "meta": {
- "definition": {
- "val": "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.",
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- "PMID:32054610"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Ischaemic stroke"
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- "xrefs": [
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- "val": "SNOMEDCT_US:422504002"
- },
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- "val": "UMLS:C0948008"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002141",
- "lbl": "Gait imbalance",
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- "val": "Abnormality of balance"
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- "pred": "hasExactSynonym",
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- "val": "Abnormality of equilibrium"
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- {
- "pred": "hasExactSynonym",
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- "val": "Imbalanced walk",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002143",
- "lbl": "Abnormality of the spinal cord",
- "meta": {
- "definition": {
- "val": "An abnormality of the spinal cord (myelon).",
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- "synonyms": [
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- },
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spinal cord disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Spinal cord pathology"
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- ],
- "xrefs": [
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- "val": "MSH:D013118"
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- {
- "val": "SNOMEDCT_US:48522003"
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- "val": "UMLS:C0037928"
- },
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- "val": "UMLS:C4025722"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002144",
- "lbl": "Tethered cord",
- "meta": {
- "definition": {
- "val": "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Occult spinal dysraphism",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
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- "val": "MSH:D009436"
- },
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- "val": "SNOMEDCT_US:70534000"
- },
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- "val": "UMLS:C0080218"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002145",
- "lbl": "Frontotemporal dementia",
- "meta": {
- "definition": {
- "val": "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.",
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- },
- "xrefs": [
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- "val": "MSH:D057180"
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- "val": "SNOMEDCT_US:230270009"
- },
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- "val": "UMLS:C0338451"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002148",
- "lbl": "Hypophosphatemia",
- "meta": {
- "definition": {
- "val": "An abnormally decreased phosphate concentration in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
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- "val": "Low blood phosphate level",
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- },
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- "pred": "hasExactSynonym",
- "val": "Hypophosphataemia"
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- ],
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- "val": "MSH:D017674"
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- {
- "val": "SNOMEDCT_US:4996001"
- },
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- "val": "UMLS:C0085682"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002149",
- "lbl": "Hyperuricemia",
- "meta": {
- "definition": {
- "val": "An abnormally high level of uric acid in the blood.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
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- "val": "High blood uric acid level",
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- "val": "Hyperuricaemia"
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- "val": "SNOMEDCT_US:35885006"
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- "val": "UMLS:C0740394"
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0002150",
- "lbl": "Hypercalciuria",
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- "val": "Elevated urine calcium levels",
- "xrefs": [
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypercalcinuria"
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- ],
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- "val": "SNOMEDCT_US:71938000"
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- "type": "CLASS"
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- "lbl": "Increased serum lactate",
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- "definition": {
- "val": "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).",
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- "synonyms": [
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- "val": "Higher than normal levels of lactate in blood",
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- "pred": "hasExactSynonym",
- "val": "Increased blood lactate"
- }
- ],
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- ]
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0002152",
- "lbl": "Hyperproteinemia",
- "meta": {
- "definition": {
- "val": "An increased concentration of proteins in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:37064009"
- },
- {
- "val": "UMLS:C0267988"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002153",
- "lbl": "Hyperkalemia",
- "meta": {
- "definition": {
- "val": "An abnormally increased potassium concentration in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated serum potassium levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006947"
- },
- {
- "val": "SNOMEDCT_US:14140009"
- },
- {
- "val": "SNOMEDCT_US:166689004"
- },
- {
- "val": "SNOMEDCT_US:238142003"
- },
- {
- "val": "UMLS:C0020461"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002154",
- "lbl": "Hyperglycinemia",
- "meta": {
- "comments": [
- "Normal blood glycine levels are around 200-250 micromole per liter."
- ],
- "definition": {
- "val": "An elevated concentration of glycine in the blood.",
- "xrefs": [
- "HPO:gcarletti",
- "PMID:16902722",
- "PMID:4696900"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated blood glycine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperglycinaemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:64654004"
- },
- {
- "val": "UMLS:C0268559"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002155",
- "lbl": "Hypertriglyceridemia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- "val": "HP:0008174"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008332"
- }
- ],
- "definition": {
- "val": "An abnormal increase in the level of triglycerides in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased circulating Tg levels"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased plasma Tg levels"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased plasma triglycerides"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased serum triglycerides"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased triglycerides"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1522137"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002156",
- "lbl": "Homocystinuria",
- "meta": {
- "comments": [
- "Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency."
- ],
- "definition": {
- "val": "An increased concentration of homocystine in the urine.",
- "xrefs": [
- "HPO:gcarletti"
- ]
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- "pred": "hasExactSynonym",
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- "val": "High urine homocystine levels",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006712"
- },
- {
- "val": "SNOMEDCT_US:11282001"
- },
- {
- "val": "UMLS:C0019880"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002157",
- "lbl": "Azotemia",
- "meta": {
- "comments": [
- "Abnormal levels of nitrogen-containing compounds, such as urea and creatinine."
- ],
- "definition": {
- "val": "An increased concentration of nitrogen compounds in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Azotaemia"
- }
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- "xrefs": [
- {
- "val": "MSH:D053099"
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- {
- "val": "SNOMEDCT_US:445009001"
- },
- {
- "val": "UMLS:C0242528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002159",
- "lbl": "Heparan sulfate excretion in urine",
- "meta": {
- "definition": {
- "val": "An increased concentration of heparan sulfates in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Heparan sulphate excretion in urine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854827"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002160",
- "lbl": "Hyperhomocystinemia",
- "meta": {
- "comments": [
- "Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar."
- ],
- "definition": {
- "val": "An increased concentration of homocystine in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated blood homocystine",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Homocystinemia"
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- "xrefs": [
- {
- "val": "UMLS:C3806347"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002161",
- "lbl": "Hyperlysinemia",
- "meta": {
- "comments": [
- "Normal blood lysine levels are around 180-200 micromole per liter."
- ],
- "definition": {
- "val": "An increased concentration of lysine in the blood.",
- "xrefs": [
- "HPO:gcarletti",
- "PMID:4696900"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated blood lysine",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020167"
- },
- {
- "val": "SNOMEDCT_US:58558003"
- },
- {
- "val": "UMLS:C0268553"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002162",
- "lbl": "Low posterior hairline",
- "meta": {
- "comments": [
- "This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately."
- ],
- "definition": {
- "val": "Hair on the neck extends more inferiorly than usual.",
- "xrefs": [
- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low hairline at back of neck",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low posterior hair line"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855728"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002164",
- "lbl": "Nail dysplasia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001793"
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- "val": "HP:0001794"
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- "val": "HP:0001797"
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- "val": "HP:0008387"
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- "val": "HP:0008403"
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- "val": "HP:0008412"
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- ],
- "definition": {
- "val": "The presence of developmental dysplasia of the nail.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Atypical nail growth",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysplastic nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onychodysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834405"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002165",
- "lbl": "Pterygium of nails",
- "meta": {
- "definition": {
- "val": "Inward advance of skin over the nail plate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- "pred": "hasExactSynonym",
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- "val": "SNOMEDCT_US:110987009"
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- "val": "UMLS:C0406438"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002166",
- "lbl": "Impaired vibration sensation in the lower limbs",
- "meta": {
- "definition": {
- "val": "A decrease in the ability to perceive vibration in the legs.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased lower limb vibratory sense"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vibratory sense in lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vibratory sense in the lower extremities"
- },
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- "pred": "hasExactSynonym",
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- "val": "Decreased vibratory sense in the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diminished vibratory sensation in the legs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired vibration sensation in the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory loss, especially vibratory sense"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal vibratory impairment of the lower limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849134"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002167",
- "lbl": "Neurological speech impairment",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech disorder"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech impairment"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speech impediment"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013064"
- },
- {
- "val": "UMLS:C0037822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002168",
- "lbl": "Scanning speech",
- "meta": {
- "definition": {
- "val": "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.",
- "xrefs": [
- "PMID:16247074"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Explosive speech",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
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- "xrefs": [
- {
- "val": "SNOMEDCT_US:102935005"
- },
- {
- "val": "SNOMEDCT_US:77420001"
- },
- {
- "val": "UMLS:C0278184"
- },
- {
- "val": "UMLS:C0522198"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002169",
- "lbl": "Clonus",
- "meta": {
- "comments": [
- "Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal."
- ],
- "definition": {
- "val": "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Involuntary rhythmic muscular contractions and relaxations",
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- }
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- "val": "SNOMEDCT_US:36649002"
- },
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- "val": "UMLS:C0009024"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002170",
- "lbl": "Intracranial hemorrhage",
- "meta": {
- "definition": {
- "val": "Hemorrhage occurring within the skull.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intracranial haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bleeding within the skull",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020300"
- },
- {
- "val": "SNOMEDCT_US:1386000"
- },
- {
- "val": "UMLS:C0151699"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002171",
- "lbl": "Gliosis",
- "meta": {
- "comments": [
- "Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury."
- ],
- "definition": {
- "val": "Gliosis is the focal proliferation of glial cells in the central nervous system.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral gliosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Excess astrocytes in brain",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005911"
- },
- {
- "val": "SNOMEDCT_US:359580009"
- },
- {
- "val": "SNOMEDCT_US:81415000"
- },
- {
- "val": "UMLS:C0017639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002172",
- "lbl": "Postural instability",
- "meta": {
- "definition": {
- "val": "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.",
- "xrefs": [
- "PMID:25613349"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Balance impairment",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormal retropulsion test"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Imbalance"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843921"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002173",
- "lbl": "Hypoglycemic seizures",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C0877056"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002174",
- "lbl": "Postural tremor",
- "meta": {
- "basicPropertyValues": [
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- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007197"
- }
- ],
- "definition": {
- "val": "A type of tremors that is triggered by holding a limb in a fixed position.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Tremor, postural",
- "xrefs": [
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- ]
- }
- ],
- "xrefs": [
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- "val": "MSH:D014202"
- },
- {
- "val": "SNOMEDCT_US:56610005"
- },
- {
- "val": "UMLS:C0234378"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002176",
- "lbl": "Spinal cord compression",
- "meta": {
- "comments": [
- "Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors."
- ],
- "definition": {
- "val": "External mechanical compression of the spinal cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002873"
- }
- ],
- "definition": {
- "val": "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent respiratory infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple respiratory infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent respiratory infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Susceptibility to respiratory infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "respiratory infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806482"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002206",
- "lbl": "Pulmonary fibrosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006523"
- }
- ],
- "comments": [
- "Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer."
- ],
- "definition": {
- "val": "Replacement of normal lung tissues by fibroblasts and collagen.",
- "xrefs": [
- "DDD:tkuijpers",
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D011658"
- },
- {
- "val": "SNOMEDCT_US:51615001"
- },
- {
- "val": "UMLS:C0034069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002207",
- "lbl": "Diffuse reticular or finely nodular infiltrations",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843428"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002208",
- "lbl": "Coarse hair",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200078"
- }
- ],
- "definition": {
- "val": "Hair shafts are rough in texture.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coarse hair"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rough hair texture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Coarse hair texture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:48610005"
- },
- {
- "val": "UMLS:C0277959"
- },
- {
- "val": "UMLS:C4072834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002209",
- "lbl": "Sparse scalp hair",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002233"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002556"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004526"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004534"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004541"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004542"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004772"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004774"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004775"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004782"
- }
- ],
- "comments": [
- "Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist."
- ],
- "definition": {
- "val": "Decreased number of hairs per unit area of skin of the scalp.",
- "xrefs": [
- "PMID:19125436",
- "PMID:28061825"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced amount of scalp hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sparse scalp hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thinning scalp hair"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin scalp hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced/lack of hair on scalp",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased number of scalp follicles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrichosis on scalp"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduction in the number of scalp follicles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scalp hypotrichosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857042"
- },
- {
- "val": "UMLS:C1873509"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002211",
- "lbl": "White forelock",
- "meta": {
- "definition": {
- "val": "A triangular depigmented region of white hairs located in the anterior midline of the scalp.",
- "xrefs": [
- "DDD:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "White part of hair above forehead",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poliosis of anterior hair",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poliosis of forelock hair",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:247564004"
- },
- {
- "val": "UMLS:C0344312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002212",
- "lbl": "Curly hair",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curly hair"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:225570000"
- },
- {
- "val": "UMLS:C0558165"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002213",
- "lbl": "Fine hair",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200132"
- }
- ],
- "definition": {
- "val": "Hair that is fine or thin to the touch.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fine hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fine hair shaft",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fine hair texture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin hair shaft",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin hair texture",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin hair"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thinned hair"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:247546006"
- },
- {
- "val": "UMLS:C0423867"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002215",
- "lbl": "Sparse axillary hair",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004514"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004518"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004545"
- }
- ],
- "definition": {
- "val": "Reduced number or density of axillary hair.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited armpit hair",
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- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Little underarm hair",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Sparse axillary and pubic hair"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Sparse scalp, axillary, and pubic hair"
- },
- {
- "pred": "hasExactSynonym",
- "val": "sparse to absent axillary hair"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858574"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002216",
- "lbl": "Premature graying of hair",
- "meta": {
- "definition": {
- "val": "Development of gray hair at a younger than normal age.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early graying"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature graying"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature graying of hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature greying"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature hair graying"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Early greying"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Premature greying of hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Premature hair greying"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Premature greying of the hair"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature graying of the hair",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:387833009"
- },
- {
- "val": "UMLS:C0263498"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002217",
- "lbl": "Slow-growing hair",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0004767"
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- "val": "HP:0004770"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004781"
- }
- ],
- "definition": {
- "val": "Hair whose growth is slower than normal.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "val": "Slow growing hair"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow-growing hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow rate of hair growth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slow speed of hair growth",
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- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1832348"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002218",
- "lbl": "Silver-gray hair",
- "meta": {
- "definition": {
- "val": "Hypopigmented hair that appears silver-gray.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Silver-gray hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Silver-gray hair color"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Silvery-gray hair"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Silver-gray hair colour"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1836576"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002219",
- "lbl": "Facial hypertrichosis",
- "meta": {
- "definition": {
- "val": "Excessive, increased hair growth located in the facial region."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased facial hair growth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C565029"
- },
- {
- "val": "UMLS:C1851400"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002220",
- "lbl": "Melanin pigment aggregation in hair shafts",
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- "xrefs": [
- {
- "val": "UMLS:C1843390"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002221",
- "lbl": "Absent axillary hair",
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- "basicPropertyValues": [
- {
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- "val": "HP:0004549"
- }
- ],
- "definition": {
- "val": "Absence of axillary hair.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1859392"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002223",
- "lbl": "Absent eyebrow",
- "meta": {
- "definition": {
- "val": "Absence of the eyebrow.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent eyebrow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of development of eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent eyebrows"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Agenesis of eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Aplasia of eyebrows",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253208007"
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- {
- "val": "SNOMEDCT_US:422441003"
- },
- {
- "val": "UMLS:C0431448"
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- {
- "val": "UMLS:C0578682"
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- {
- "val": "UMLS:C4280581"
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- {
- "val": "UMLS:C4280582"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002224",
- "lbl": "Woolly hair",
- "meta": {
- "comments": [
- "See figures in PMID:20464096."
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- "definition": {
- "val": "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.",
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- "val": "UMLS:C0343073"
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- "val": "UMLS:C4072835"
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- "val": "UMLS:C4072836"
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- "val": "UMLS:C4073292"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002225",
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- "val": "Decreased sexual hair"
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- "pred": "hasExactSynonym",
- "val": "sparse to absent pubic hair"
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- "type": "CLASS"
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- "val": "White color (lack of pigmentation) of the eyebrow.",
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- "pred": "hasExactSynonym",
- "val": "Depigmented eyebrow"
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C1836737"
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- "val": "UMLS:C4280579"
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- "val": "UMLS:C4280580"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002227",
- "lbl": "White eyelashes",
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- "definition": {
- "val": "White color (lack of pigmentation) of the eyelashes.",
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- "DDD:cmoss"
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- },
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- "pred": "hasExactSynonym",
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- "val": "White eyelashes"
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- "val": "Blonde eyelashes",
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- "pred": "hasExactSynonym",
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- "val": "Pale eyelashes",
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- "val": "Grey eyelashes",
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- "pred": "hasExactSynonym",
- "val": "Depigmented eyelashes"
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- "val": "UMLS:C1836736"
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- "val": "UMLS:C4280578"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002229",
- "lbl": "obsolete Alopecia areata",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002230",
- "lbl": "Generalized hirsutism",
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- "definition": {
- "val": "Abnormally increased hair growth over much of the entire body.",
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- "HPO:curators"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive hairiness over body",
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- "val": "UMLS:C1849211"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002231",
- "lbl": "Sparse body hair",
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- "definition": {
- "val": "Sparseness of the body hair.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
- "val": "Limited body hair"
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- {
- "pred": "hasExactSynonym",
- "val": "Little body hair"
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- {
- "pred": "hasExactSynonym",
- "val": "Sparse to absent body hair"
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- "val": "UMLS:C1862863"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002232",
- "lbl": "Patchy alopecia",
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- "definition": {
- "val": "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy baldness"
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- {
- "pred": "hasExactSynonym",
- "val": "Alopecia areata"
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- ],
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- "val": "MSH:C531609"
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- "val": "MSH:D000506"
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- "val": "SNOMEDCT_US:68225006"
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- "val": "UMLS:C0002171"
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- "val": "UMLS:C1862862"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002234",
- "lbl": "Early balding",
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- "definition": {
- "val": "Loss of scalp hair at an earlier than normal age.",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasExactSynonym",
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- "val": "Early balding"
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- ],
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- "val": "UMLS:C4025718"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002235",
- "lbl": "Pili canaliculi",
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- "definition": {
- "val": "Uncombable hair.",
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- },
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- {
- "val": "UMLS:C1860608"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002236",
- "lbl": "Frontal upsweep of hair",
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- "definition": {
- "val": "Upward and/or sideward growth of anterior hair.",
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- "synonyms": [
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- "val": "Cowlick"
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- {
- "pred": "hasExactSynonym",
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- "val": "Frontal upsweep of hair"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Upswept frontal hair"
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- {
- "pred": "hasExactSynonym",
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- "val": "Frontal Cowlick",
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- },
- {
- "pred": "hasRelatedSynonym",
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- "val": "Upswept frontal hair pattern",
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- },
- {
- "pred": "hasRelatedSynonym",
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- "val": "UMLS:C1185616"
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- {
- "val": "UMLS:C2675540"
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- "val": "UMLS:C3275754"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002239",
- "lbl": "Gastrointestinal hemorrhage",
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- "definition": {
- "val": "Hemorrhage affecting the gastrointestinal tract.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
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- "val": "Gastrointestinal bleeding"
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "val": "Gastrointestinal haemorrhage"
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- ],
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- "val": "MSH:D006471"
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- "val": "SNOMEDCT_US:74474003"
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- "val": "UMLS:C0017181"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002240",
- "lbl": "Hepatomegaly",
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- "val": "HP:0001398"
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- ],
- "definition": {
- "val": "Abnormally increased size of the liver.",
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- {
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- "val": "Enlarged liver"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002242",
- "lbl": "Abnormal intestine morphology",
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- "definition": {
- "val": "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.",
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002243",
- "lbl": "Protein-losing enteropathy",
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- "Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins."
- ],
- "definition": {
- "val": "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.",
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- "val": "SNOMEDCT_US:22542007"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002244",
- "lbl": "Abnormality of the small intestine",
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- "val": "An abnormality of the small intestine.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002245",
- "lbl": "Meckel diverticulum",
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- "definition": {
- "val": "Meckel's diverticulum is a congenital diverticulum located in the distal ileum.",
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- "val": "MSH:D008467"
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- "val": "SNOMEDCT_US:127962001"
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- "val": "SNOMEDCT_US:37373007"
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- "val": "UMLS:C0025037"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002246",
- "lbl": "Abnormal duodenum morphology",
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- "definition": {
- "val": "An abnormality of the duodenum, i.e., the first section of the small intestine.",
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- "HPO:probinson"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002247",
- "lbl": "Duodenal atresia",
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- "definition": {
- "val": "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.",
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- "HPO:probinson"
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- "val": "MEDDRA:10013812"
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- "val": "SNOMEDCT_US:51118003"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002248",
- "lbl": "Hematemesis",
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- "comments": [
- "The source of hematemesis is generally the upper gastrointestinal tract."
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- "definition": {
- "val": "The vomiting of blood.",
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- "HPO:probinson"
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- "ORCID:0000-0001-5208-3432"
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- "val": "SNOMEDCT_US:8765009"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002249",
- "lbl": "Melena",
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- "definition": {
- "val": "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.",
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- "HPO:probinson"
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- },
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- {
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- "val": "Black feces",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008551"
- },
- {
- "val": "SNOMEDCT_US:249627005"
- },
- {
- "val": "SNOMEDCT_US:267055007"
- },
- {
- "val": "SNOMEDCT_US:269899009"
- },
- {
- "val": "SNOMEDCT_US:2901004"
- },
- {
- "val": "SNOMEDCT_US:35064005"
- },
- {
- "val": "UMLS:C0025222"
- },
- {
- "val": "UMLS:C0474585"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002250",
- "lbl": "Abnormal large intestine morphology",
- "meta": {
- "comments": [
- "The large intestine comprises the cecum and colon."
- ],
- "definition": {
- "val": "Any abnormality of the large intestine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the large intestine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025715"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002251",
- "lbl": "Aganglionic megacolon",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002029"
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- "val": "HP:0002030"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002606"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004391"
- }
- ],
- "comments": [
- "Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract."
- ],
- "definition": {
- "val": "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17965226"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged colon lacking nerve cells",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital megacolon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hirschsprung megacolon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megacolon"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hirschsprung disease"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10027110"
- },
- {
- "val": "MSH:D006627"
- },
- {
- "val": "MSH:D008531"
- },
- {
- "val": "SNOMEDCT_US:204739008"
- },
- {
- "val": "SNOMEDCT_US:33995003"
- },
- {
- "val": "SNOMEDCT_US:367495003"
- },
- {
- "val": "UMLS:C0019569"
- },
- {
- "val": "UMLS:C0025160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002253",
- "lbl": "Colonic diverticula",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005860"
- }
- ],
- "definition": {
- "val": "The presence of multiple diverticula of the colon.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Colonic diverticulosis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Colon diverticula"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10009993"
- },
- {
- "val": "MSH:D004241"
- },
- {
- "val": "MSH:D043963"
- },
- {
- "val": "SNOMEDCT_US:398050005"
- },
- {
- "val": "UMLS:C0012811"
- },
- {
- "val": "UMLS:C0012819"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002254",
- "lbl": "Intermittent diarrhea",
- "meta": {
- "definition": {
- "val": "Repeated episodes of diarrhea separated by periods without diarrhea."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Episodic diarrhoea"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intermittent diarrhoea"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Episodic diarrhea"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239181"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002256",
- "lbl": "Small bowel diverticula",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10013533"
- },
- {
- "val": "SNOMEDCT_US:8114009"
- },
- {
- "val": "UMLS:C0267498"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002257",
- "lbl": "Chronic rhinitis",
- "meta": {
- "definition": {
- "val": "Chronic inflammation of the nasal mucosa.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:86094006"
- },
- {
- "val": "UMLS:C0008711"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002263",
- "lbl": "Exaggerated cupid's bow",
- "meta": {
- "comments": [
- "This may be associated with a Deep philtrum, but that finding should be coded separately."
- ],
- "definition": {
- "val": "More pronounced paramedian peaks and median notch of the Cupid's bow.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupid bow upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupid-bow shaped upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Exaggerated cupid's bow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent cupid-bow of upper lip"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cupid's bow, accentuated"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850629"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002265",
- "lbl": "Large fleshy ears",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large fleshy ears"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3808403"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002266",
- "lbl": "Focal clonic seizure",
- "meta": {
- "comments": [
- "The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus)."
- ],
- "definition": {
- "val": "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.",
- "xrefs": [
- "ORCID:0000-0002-1735-8178",
- "PMID:11580774",
- "PMID:28276060",
- "PMID:28276064"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Focal clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Localised clonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Segmental clonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localized clonic seizure",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial clonic seizure",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020938"
- },
- {
- "val": "UMLS:C0752323"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002267",
- "lbl": "Exaggerated startle response",
- "meta": {
- "definition": {
- "val": "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Exaggerated acoustic startle response"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased startle response"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hyperekplexia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000071017"
- },
- {
- "val": "SNOMEDCT_US:19557000"
- },
- {
- "val": "UMLS:C0234166"
- },
- {
- "val": "UMLS:C1740801"
- },
- {
- "val": "UMLS:C1836014"
- },
- {
- "val": "UMLS:C1848918"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002268",
- "lbl": "Paroxysmal dystonia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002412"
- }
- ],
- "definition": {
- "val": "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Episodic dystonia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004421"
- },
- {
- "val": "SNOMEDCT_US:230310003"
- },
- {
- "val": "UMLS:C0393588"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002269",
- "lbl": "Abnormality of neuronal migration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007317"
- }
- ],
- "definition": {
- "val": "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal neuronal migration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Heterotopias/abnormal migration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Migrational brain disorder"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neuronal migration disorder"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054081"
- },
- {
- "val": "UMLS:C1837249"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002270",
- "lbl": "Abnormality of the autonomic nervous system",
- "meta": {
- "comments": [
- "The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness."
- ],
- "definition": {
- "val": "An abnormality of the autonomic nervous system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025714"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002271",
- "lbl": "obsolete Autonomic dysregulation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0012332"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002273",
- "lbl": "Tetraparesis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002338"
- }
- ],
- "comments": [
- "Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength."
- ],
- "definition": {
- "val": "Weakness of all four limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Quadriparesis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011782"
- },
- {
- "val": "SNOMEDCT_US:91327001"
- },
- {
- "val": "UMLS:C0270790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002275",
- "lbl": "Poor motor coordination",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor motor coordination"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848453"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002277",
- "lbl": "Horner syndrome",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000596"
- }
- ],
- "comments": [
- "Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva."
- ],
- "definition": {
- "val": "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Horner's syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oculosympathetic palsy",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006732"
- },
- {
- "val": "SNOMEDCT_US:12731000"
- },
- {
- "val": "SNOMEDCT_US:192915005"
- },
- {
- "val": "SNOMEDCT_US:271730003"
- },
- {
- "val": "UMLS:C0019937"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002280",
- "lbl": "Enlarged cisterna magna",
- "meta": {
- "comments": [
- "Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture."
- ],
- "definition": {
- "val": "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Large cisterna magna"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Mega cisterna magna"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853377"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002281",
- "lbl": "obsolete Gray matter heterotopias",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002282"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002282",
- "lbl": "Gray matter heterotopia",
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- "val": "HP:0007314"
- }
- ],
- "comments": [
- "Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used."
- ],
- "definition": {
- "val": "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.",
- "xrefs": [
- "COST:neuromig",
- "ORCID:0000-0001-5208-3432",
- "PMID:22427329",
- "PMID:25180909",
- "PMID:7524438"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Gray matter heterotopias"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Heterotopias"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Grey matter heterotopia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Grey matter heterotopias"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Heterotopia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neuronal heterotopia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002828"
- },
- {
- "val": "SNOMEDCT_US:128490007"
- },
- {
- "val": "SNOMEDCT_US:416286003"
- },
- {
- "val": "SNOMEDCT_US:417338002"
- },
- {
- "val": "UMLS:C0008519"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002283",
- "lbl": "Global brain atrophy",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002462"
- }
- ],
- "comments": [
- "Global brain atrophy can be visualized and quantified by magnetic resonance imaging."
- ],
- "definition": {
- "val": "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised brain atrophy"
- },
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised brain degeneration"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised cerebral atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Generalized brain degeneration",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse brain atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized brain atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized cerebral atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0241816"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002286",
- "lbl": "Fair hair",
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- "For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives."
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- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Towhead (hair color)",
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- "xrefs": [
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- "val": "SNOMEDCT_US:297995004"
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- "val": "UMLS:C0239801"
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- "val": "UMLS:C1849221"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002287",
- "lbl": "Progressive alopecia",
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- "definition": {
- "val": "Progressive loss of hair.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1851885"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002289",
- "lbl": "Alopecia universalis",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004550"
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- "definition": {
- "val": "Loss of all hair on the entire body.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Alopecia, complete"
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- "pred": "hasRelatedSynonym",
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- "val": "SNOMEDCT_US:86166000"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002290",
- "lbl": "Poliosis",
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- "definition": {
- "val": "Circumscribed depigmentation of the hair of the head or the eyelashes.",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patch of white hair"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "White patch"
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- "val": "SNOMEDCT_US:14240001"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002292",
- "lbl": "Frontal balding",
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- "definition": {
- "val": "Absence of hair in the anterior midline and/or parietal areas.",
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- "PMID:19125436"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frontal balding"
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- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Male pattern baldness",
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- "ORCID:0000-0001-5889-4463"
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- "val": "MSH:D000505"
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- "val": "SNOMEDCT_US:87872006"
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- "val": "UMLS:C1864584"
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- "val": "UMLS:C4083212"
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0002293",
- "lbl": "Alopecia of scalp",
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- "val": "Absence of scalp hair",
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- "val": "Pathologic hair loss from scalp",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Scalp hair loss",
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- "val": "MSH:D000505"
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- "val": "SNOMEDCT_US:278040002"
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- "val": "SNOMEDCT_US:298000004"
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- "val": "SNOMEDCT_US:56317004"
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- "val": "UMLS:C0002170"
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- "val": "UMLS:C0574769"
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- "val": "UMLS:C1850535"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002296",
- "lbl": "Progressive hypotrichosis",
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- "definition": {
- "val": "Progressively reduced or lacking hair growth.",
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- "val": "UMLS:C1857048"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002297",
- "lbl": "Red hair",
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002298",
- "lbl": "Absent hair",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002299",
- "lbl": "Brittle hair",
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- "Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia)."
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- "definition": {
- "val": "Fragile, easily breakable hair, i.e., with reduced tensile strength.",
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- "DDD:cmoss"
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- "val": "Fractured hair",
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- "pred": "hasBroadSynonym",
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- "val": "Fragile hair",
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced tensile strength of hair",
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- "ORCID:0000-0001-5889-4463"
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- "xrefs": [
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- "val": "SNOMEDCT_US:25159003"
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- "val": "UMLS:C0263490"
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- "val": "UMLS:C1851868"
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- "val": "UMLS:C1970705"
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- "val": "UMLS:C4072837"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002300",
- "lbl": "Mutism",
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
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- "val": "Muteness",
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- "val": "SNOMEDCT_US:88052002"
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- "val": "UMLS:C0026884"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002301",
- "lbl": "Hemiplegia",
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- "definition": {
- "val": "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.",
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- "synonyms": [
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- "https://orcid.org/0000-0002-6548-5200"
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- "val": "MSH:D006429"
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- "val": "SNOMEDCT_US:50582007"
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- "val": "UMLS:C0018991"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002304",
- "lbl": "Akinesia",
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- "comments": [
- "Akinesia is a typical extrapyramidal abnormality."
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- "definition": {
- "val": "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002305",
- "lbl": "Athetosis",
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- "comments": [
- "Athetosis derives from the Greek word for 'changeable' or 'unfixed'."
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- "definition": {
- "val": "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.",
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- "https://orcid.org/0000-0002-6548-5200"
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- "val": "MSH:D001264"
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- "id": "http://purl.obolibrary.org/obo/HP_0002307",
- "lbl": "Drooling",
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- "definition": {
- "val": "Habitual flow of saliva out of the mouth.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Drooling"
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- {
- "pred": "hasExactSynonym",
- "val": "Sialorrhea",
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- "val": "SNOMEDCT_US:275295002"
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- "val": "SNOMEDCT_US:53827007"
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- "val": "SNOMEDCT_US:62718007"
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- "val": "UMLS:C0013132"
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- "val": "UMLS:C0037036"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002308",
- "lbl": "Chiari malformation",
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- "definition": {
- "val": "Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.",
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- "HPO:curators",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "xrefs": [
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- "val": "MSH:D001139"
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- "val": "SNOMEDCT_US:253184003"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002310",
- "lbl": "Orofacial dyskinesia",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002311",
- "lbl": "Incoordination",
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- "lbl": "Vertigo",
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- "id": "http://purl.obolibrary.org/obo/HP_0002326",
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- "lbl": "Motor deterioration",
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- "type": "CLASS"
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- ],
- "definition": {
- "val": "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Ataxic tremor"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014202"
- },
- {
- "val": "SNOMEDCT_US:30721006"
- },
- {
- "val": "UMLS:C0234376"
- },
- {
- "val": "UMLS:C4020853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002346",
- "lbl": "Head tremor",
- "meta": {
- "definition": {
- "val": "An unintentional, oscillating to-and-fro muscle movement affecting head movement.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Head tremor"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002349",
- "lbl": "Focal aware seizure",
- "meta": {
- "comments": [
- "In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures."
- ],
- "definition": {
- "val": "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.",
- "xrefs": [
- "HPO:probinson",
- "ORCID:0000-0002-1735-8178",
- "PMID:28276060",
- "PMID:28276062",
- "PMID:28276064"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Focal aware seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Focal seizures without impairment of consciousness or awareness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Simple partial seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure with retained awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure without impairment of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure without impairment of consciousness or awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure with retained awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure without impairment of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Simple partial seizure"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004828"
- },
- {
- "val": "SNOMEDCT_US:117891000119100"
- },
- {
- "val": "SNOMEDCT_US:79348005"
- },
- {
- "val": "UMLS:C0234974"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002350",
- "lbl": "Cerebellar cyst",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebellar cysts",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1847762"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002352",
- "lbl": "Leukoencephalopathy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006838"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007073"
- }
- ],
- "comments": [
- "This feature can be demonstrated by magnetic resonance imaging or computer tomography."
- ],
- "definition": {
- "val": "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D056784"
- },
- {
- "val": "SNOMEDCT_US:22811006"
- },
- {
- "val": "UMLS:C0270612"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002353",
- "lbl": "EEG abnormality",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001346"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002429"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006841"
- }
- ],
- "definition": {
- "val": "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Abnormal EEG"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "EEG abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal electroencephalogram"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Electroencephalogram abnormal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Electroencephalogram abnormalities"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274521009"
- },
- {
- "val": "UMLS:C0151611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002354",
- "lbl": "Memory impairment",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000747"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002081"
- }
- ],
- "comments": [
- "Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living."
- ],
- "definition": {
- "val": "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Forgetfulness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Memory impairment"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Memory loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Memory problems"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor memory"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008569"
- },
- {
- "val": "SNOMEDCT_US:386807006"
- },
- {
- "val": "SNOMEDCT_US:55533009"
- },
- {
- "val": "UMLS:C0233794"
- },
- {
- "val": "UMLS:C0542476"
- },
- {
- "val": "UMLS:C0751295"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002355",
- "lbl": "Difficulty walking",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007101"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009030"
- }
- ],
- "definition": {
- "val": "Reduced ability to walk (ambulate).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty in walking"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty walking"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Walking disability"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D051346"
- },
- {
- "val": "SNOMEDCT_US:228158008"
- },
- {
- "val": "UMLS:C0311394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002356",
- "lbl": "Writer's cramp",
- "meta": {
- "definition": {
- "val": "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Writer's cramp"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020821"
- },
- {
- "val": "SNOMEDCT_US:52008007"
- },
- {
- "val": "UMLS:C0154676"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002357",
- "lbl": "obsolete Dysphasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0002381"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002359",
- "lbl": "Frequent falls",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent falls"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0850703"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002360",
- "lbl": "Sleep disturbance",
- "meta": {
- "definition": {
- "val": "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Trouble sleeping"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty sleeping",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sleep dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sleep disturbances",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:53888004"
- },
- {
- "val": "UMLS:C0037317"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002361",
- "lbl": "Psychomotor deterioration",
- "meta": {
- "definition": {
- "val": "Loss of previously present mental and motor abilities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836842"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002362",
- "lbl": "Shuffling gait",
- "meta": {
- "definition": {
- "val": "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shuffled walk",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020233"
- },
- {
- "val": "SNOMEDCT_US:43005009"
- },
- {
- "val": "UMLS:C0231688"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002363",
- "lbl": "Abnormal brainstem morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the brainstem.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of brainstem",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of brainstem morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the brainstem"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850601"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002365",
- "lbl": "Hypoplasia of the brainstem",
- "meta": {
- "comments": [
- "This finding can be demonstrated by magnetic resonance imaging."
- ],
- "definition": {
- "val": "Underdevelopment of the brainstem.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small brainstem"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped brainstem",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brainstem hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic brain stem"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic brainstem"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842688"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002366",
- "lbl": "Abnormal lower motor neuron morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007276"
- }
- ],
- "comments": [
- "previous def: 'has part' some \n(quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "Any structural anomaly of the lower motor neuron.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lower motor neuron disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower motor neuron manifestations"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lower motor neuron signs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865412"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002367",
- "lbl": "Visual hallucinations",
- "meta": {
- "definition": {
- "val": "Visual perceptions that are not elicited by a corresponding stimulus from the outside world."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Visual hallucinations"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006212"
- },
- {
- "val": "SNOMEDCT_US:64269007"
- },
- {
- "val": "UMLS:C0233763"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002370",
- "lbl": "Poor coordination",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor coordination"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0563243"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002371",
- "lbl": "Loss of speech",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of speech"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0542223"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002372",
- "lbl": "Normal interictal EEG",
- "meta": {
- "definition": {
- "val": "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis."
- },
- "xrefs": [
- {
- "val": "UMLS:C1843146"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002373",
- "lbl": "Febrile seizure (within the age range of 3 months to 6 years)",
- "meta": {
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- "val": "HP:0002175"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007102"
- }
- ],
- "comments": [
- "Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made."
- ],
- "definition": {
- "val": "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.",
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- "PMID:19125841",
- "PMID:30078767",
- "PMID:6779259"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Febrile seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fever induced seizures",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Febrile convulsion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Seizures, febrile, in early childhood"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Seizures, generalized, associated with fever"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003294"
- },
- {
- "val": "SNOMEDCT_US:41497008"
- },
- {
- "val": "UMLS:C0009952"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002374",
- "lbl": "Diminished movement",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diminished movement"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025710"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002375",
- "lbl": "Hypokinesia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002603"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006795"
- }
- ],
- "definition": {
- "val": "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased spontaneous movement"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased spontaneous movements"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased muscle movement",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018476"
- },
- {
- "val": "SNOMEDCT_US:255385008"
- },
- {
- "val": "SNOMEDCT_US:43994002"
- },
- {
- "val": "UMLS:C0086439"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002376",
- "lbl": "Developmental regression",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002471"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002489"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006797"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006828"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006854"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007037"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007242"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007247"
- }
- ],
- "comments": [
- "Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones."
- ],
- "definition": {
- "val": "Loss of developmental skills, as manifested by loss of developmental milestones.",
- "xrefs": [
- "DDD:hvfirth"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of developmental milestones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental deterioration in childhood"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurodevelopmental regression"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor regression"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor regression beginning in infancy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor regression in infants"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Psychomotor regression, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:609225004"
- },
- {
- "val": "UMLS:C1836550"
- },
- {
- "val": "UMLS:C1836830"
- },
- {
- "val": "UMLS:C1850493"
- },
- {
- "val": "UMLS:C1855009"
- },
- {
- "val": "UMLS:C1855019"
- },
- {
- "val": "UMLS:C1855996"
- },
- {
- "val": "UMLS:C1857121"
- },
- {
- "val": "UMLS:C1859678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002377",
- "lbl": "obsolete Paraganglioma-related cranial nerve palsy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0006824"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002378",
- "lbl": "Hand tremor",
- "meta": {
- "definition": {
- "val": "An unintentional, oscillating to-and-fro muscle movement affecting the hand."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hand tremor"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tremor of hand"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tremor of hands"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "tremors in hands"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239842"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002380",
- "lbl": "Fasciculations",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002468"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007092"
- }
- ],
- "comments": [
- "This finding can be visible clinically and can be demonstrated by electromyography (EMG)."
- ],
- "definition": {
- "val": "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle twitch",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fasciculation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle fasciculation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005207"
- },
- {
- "val": "SNOMEDCT_US:82470000"
- },
- {
- "val": "UMLS:C0015644"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002381",
- "lbl": "Aphasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002357"
- }
- ],
- "comments": [
- "Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia."
- ],
- "definition": {
- "val": "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.",
- "xrefs": [
- "PMID:27384070"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty finding words"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Losing words"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of words"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001037"
- },
- {
- "val": "SNOMEDCT_US:87486003"
- },
- {
- "val": "UMLS:C0003537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002383",
- "lbl": "Infectious encephalitis",
- "meta": {
- "definition": {
- "val": "A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.",
- "xrefs": [
- "PMID:24365426"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Brain inflammation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004660"
- },
- {
- "val": "SNOMEDCT_US:45170000"
- },
- {
- "val": "UMLS:C0014038"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002384",
- "lbl": "Focal impaired awareness seizure",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002278"
- }
- ],
- "comments": [
- "Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure."
- ],
- "definition": {
- "val": "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.",
- "xrefs": [
- "HPO:pnrobinson",
- "PMID:28276062",
- "PMID:28276064",
- "PMID:9738682"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Focal impaired awareness seizures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Focal seizures with impairment of consciousness or awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complex focal seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complex partial seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complex partial seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dyscognitive seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal dyscognitive seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure with impairment of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure with loss of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localised dyscognitive seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localised seizure with impaired awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localised seizure with loss of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localized dyscognitive seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localized seizure with impaired awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Localized seizure with loss of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial dyscognitive seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure with impairment of awareness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure with loss of awareness"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:4103001"
- },
- {
- "val": "UMLS:C0149958"
- },
- {
- "val": "UMLS:C0270834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002385",
- "lbl": "Paraparesis",
- "meta": {
- "comments": [
- "Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity."
- ],
- "definition": {
- "val": "Weakness or partial paralysis in the lower limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial paralysis of legs",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020335"
- },
- {
- "val": "SNOMEDCT_US:1845001"
- },
- {
- "val": "UMLS:C0221166"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002389",
- "lbl": "Cavum septum pellucidum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006884"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007091"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007336"
- }
- ],
- "definition": {
- "val": "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Large cavum septi pellucidi"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent cavum septum pellucidum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened cavum septum pellucidum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840380"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002390",
- "lbl": "Spinal arteriovenous malformation",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:261482004"
- },
- {
- "val": "UMLS:C0348023"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002392",
- "lbl": "EEG with polyspike wave complexes",
- "meta": {
- "definition": {
- "val": "The presence of complexes of repetitive spikes and waves in EEG.",
- "xrefs": [
- "HPO:jalbers"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "EEG: spike and multispike waves, 3-4 hz"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021757"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002395",
- "lbl": "Lower limb hyperreflexia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007245"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007288"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overactive lower leg reflex",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brisk lower extremity reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperreflexia in lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperreflexia in the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased deep tendon reflexes in the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Leg hyperreflexia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836696"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002396",
- "lbl": "Cogwheel rigidity",
- "meta": {
- "comments": [
- "Cogwheel rigidity is a typical manifestation of Parkinson disease."
- ],
- "definition": {
- "val": "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D009127"
- },
- {
- "val": "SNOMEDCT_US:55630000"
- },
- {
- "val": "UMLS:C0151564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002398",
- "lbl": "Degeneration of anterior horn cells",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007136"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008312"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior horn cell loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Degeneration of spinal cord anterior horn cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of spinal cord anterior horn cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Progressive loss of anterior horn cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spinal cord anterior horn cell degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843505"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002401",
- "lbl": "Stroke-like episode",
- "meta": {
- "comments": [
- "Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent."
- ],
- "definition": {
- "val": "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.",
- "xrefs": [
- "PMID:22715346",
- "PMID:23907585"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Stroke-like episodes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Strokelike episodes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857287"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002403",
- "lbl": "Positive Romberg sign",
- "meta": {
- "definition": {
- "val": "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298310004"
- },
- {
- "val": "UMLS:C0240914"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002404",
- "lbl": "Thickened superior cerebellar peduncle",
- "meta": {
- "definition": {
- "val": "Increased width of the superior cerebellar peduncle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thick cerebellar peduncles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021756"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002406",
- "lbl": "Limb dysmetria",
- "meta": {
- "definition": {
- "val": "A type of dysmetria involving the limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uncoordinated limb movement",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854489"
- },
- {
- "val": "UMLS:C4280577"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002408",
- "lbl": "Cerebral arteriovenous malformation",
- "meta": {
- "definition": {
- "val": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Cerebral AV malformation"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:2201"
- },
- {
- "val": "MSH:D002538"
- },
- {
- "val": "SNOMEDCT_US:234142008"
- },
- {
- "val": "UMLS:C0917804"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002410",
- "lbl": "Aqueductal stenosis",
- "meta": {
- "definition": {
- "val": "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Aqueduct of Sylvius stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aqueduct stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrowing of aqueduct of Sylvius",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006849"
- },
- {
- "val": "UMLS:C2936786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002411",
- "lbl": "Myokymia",
- "meta": {
- "comments": [
- "Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity."
- ],
- "definition": {
- "val": "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.",
- "xrefs": [
- "PMID:21501741"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D020385"
- },
- {
- "val": "SNOMEDCT_US:27678003"
- },
- {
- "val": "UMLS:C0684219"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002414",
- "lbl": "Spina bifida",
- "meta": {
- "definition": {
- "val": "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Split spine",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4157"
- },
- {
- "val": "MSH:D016135"
- },
- {
- "val": "SNOMEDCT_US:67531005"
- },
- {
- "val": "UMLS:C0080178"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002415",
- "lbl": "Leukodystrophy",
- "meta": {
- "comments": [
- "The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible."
- ],
- "definition": {
- "val": "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.",
- "xrefs": [
- "HPO:probinson",
- "PMID:30620693"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Degeneration of white matter of brain",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/leukodystrophy"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:192781003"
- },
- {
- "val": "UMLS:C0023520"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002416",
- "lbl": "Subependymal cysts",
- "meta": {
- "comments": [
- "In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular."
- ],
- "definition": {
- "val": "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.",
- "xrefs": [
- "HPO:probinson",
- "PMID:12423490"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Subependymal germinolytic cyst"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subependymal pseudocyst"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833431"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002418",
- "lbl": "Abnormal midbrain morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the midbrain"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of midbrain",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of midbrain morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the mesencephalon"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021755"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002419",
- "lbl": "Molar tooth sign on MRI",
- "meta": {
- "comments": [
- "Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern."
- ],
- "definition": {
- "val": "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.",
- "xrefs": [
- "HPO:probinson",
- "PMID:14657304"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Molar tooth sign"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Molar tooth sign on brain imaging"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Molar tooth sign on imaging"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865060"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002421",
- "lbl": "Poor head control",
- "meta": {
- "definition": {
- "val": "Difficulty to maintain correct position of the head while standing or sitting.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poor head control"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836038"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002423",
- "lbl": "Long-tract signs",
- "meta": {
- "definition": {
- "val": "Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Long tract signs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865903"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002425",
- "lbl": "Anarthria",
- "meta": {
- "definition": {
- "val": "A defect in the motor ability that enables speech.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of articulate speech",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://dictionary.reference.com/browse/anarthria"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:48257004"
- },
- {
- "val": "UMLS:C0234517"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002427",
- "lbl": "Expressive aphasia",
- "meta": {
- "definition": {
- "val": "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Non-fluent aphasia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of expressive speech",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broca's aphasia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/aphasia"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Motor aphasia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/aphasia"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001039"
- },
- {
- "val": "SNOMEDCT_US:229654003"
- },
- {
- "val": "SNOMEDCT_US:229665008"
- },
- {
- "val": "SNOMEDCT_US:328681008"
- },
- {
- "val": "UMLS:C0003550"
- },
- {
- "val": "UMLS:C0917814"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002435",
- "lbl": "Meningocele",
- "meta": {
- "definition": {
- "val": "Protrusion of the meninges through a defect of the skull or vertebral column.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:32965845"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D008588"
- },
- {
- "val": "SNOMEDCT_US:171131006"
- },
- {
- "val": "UMLS:C0025299"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002436",
- "lbl": "Occipital meningocele",
- "meta": {
- "definition": {
- "val": "A herniation of meninges through a congenital bone defect in the skull in the occipital region.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:445468002"
- },
- {
- "val": "UMLS:C1848652"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002438",
- "lbl": "Cerebellar malformation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025708"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002439",
- "lbl": "Frontolimbic dementia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1836151"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002442",
- "lbl": "Dyscalculia",
- "meta": {
- "definition": {
- "val": "A specific learning disability involving mathematics and arithmetic.",
- "xrefs": [
- "DDD:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty making arithmetical calculations",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:47916000"
- },
- {
- "val": "UMLS:C1411876"
- },
- {
- "val": "UMLS:C4280576"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002444",
- "lbl": "Hypothalamic hamartoma",
- "meta": {
- "comments": [
- "Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency."
- ],
- "definition": {
- "val": "The presence of a hamartoma of the hypothalamus.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C537158"
- },
- {
- "val": "SNOMEDCT_US:237714006"
- },
- {
- "val": "UMLS:C0342418"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002445",
- "lbl": "Tetraplegia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010552"
- }
- ],
- "definition": {
- "val": "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Paralysis of all four limbs",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Quadriplegia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011782"
- },
- {
- "val": "SNOMEDCT_US:11538006"
- },
- {
- "val": "UMLS:C0034372"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002446",
- "lbl": "Astrocytosis",
- "meta": {
- "definition": {
- "val": "Proliferation of astrocytes in the area of a lesion of the central nervous system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Increase in astrocyte number",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005911"
- },
- {
- "val": "SNOMEDCT_US:81415000"
- },
- {
- "val": "UMLS:C3887640"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002448",
- "lbl": "Progressive encephalopathy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressive brain disease",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838578"
- },
- {
- "val": "UMLS:C4280575"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002450",
- "lbl": "Abnormal motor neuron morphology",
- "meta": {
- "definition": {
- "val": "Any structural anomaly that affects the motor neuron."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of motor neuron",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025707"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002451",
- "lbl": "Limb dystonia",
- "meta": {
- "definition": {
- "val": "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004421"
- },
- {
- "val": "UMLS:C0751093"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002453",
- "lbl": "Abnormal globus pallidus morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007040"
- }
- ],
- "comments": [
- "The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule."
- ],
- "definition": {
- "val": "An abnormality of the globus pallidus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002454",
- "lbl": "Eye of the tiger anomaly of globus pallidus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0012677"
- }
- ],
- "comments": [
- "This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus."
- ],
- "definition": {
- "val": "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11110959",
- "PMID:19881070",
- "PMID:29371252"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025705"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002457",
- "lbl": "Abnormal head movements",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal head movements"
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- ],
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- {
- "val": "SNOMEDCT_US:271799000"
- },
- {
- "val": "UMLS:C0476217"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002459",
- "lbl": "obsolete Dysautonomia",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002460",
- "lbl": "Distal muscle weakness",
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- "comments": [
- "Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric."
- ],
- "definition": {
- "val": "Reduced strength of the musculature of the distal extremities.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Weakness of outermost muscles",
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- "pred": "hasExactSynonym",
- "val": "Distal limb muscle weakness"
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- "pred": "hasExactSynonym",
- "val": "Distal limb weakness"
- },
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- "pred": "hasExactSynonym",
- "val": "Distal muscular weakness"
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- {
- "pred": "hasExactSynonym",
- "val": "Distal paresis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, distal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, distal limbs, due to neuronopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Weakness of distal muscles"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Distal limb muscle weakness due to peripheral neuropathy",
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- "HPO:skoehler"
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- }
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- "val": "SNOMEDCT_US:249942005"
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- "val": "UMLS:C0427065"
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- "val": "UMLS:C1864696"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002461",
- "lbl": "Dense calcifications in the cerebellar dentate nucleus",
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- "val": "UMLS:C1859273"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002463",
- "lbl": "Language impairment",
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- "ISBN:9780890425558"
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- "val": "Language impairment"
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- "pred": "hasRelatedSynonym",
- "val": "Language disorder"
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- "val": "MSH:D007806"
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- "val": "SNOMEDCT_US:62305002"
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- "val": "UMLS:C0023015"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002464",
- "lbl": "Spastic dysarthria",
- "meta": {
- "definition": {
- "val": "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Rigid dysarthria",
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- "ORCID:0000-0001-5208-3432",
- "http://medical-dictionary.thefreedictionary.com/spastic+dysarthria"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D004401"
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- "val": "SNOMEDCT_US:229684006"
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- {
- "val": "UMLS:C0454596"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002465",
- "lbl": "Poor speech",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty speaking"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Problems speaking",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848207"
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- {
- "val": "UMLS:C4280574"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002470",
- "lbl": "Nonprogressive cerebellar ataxia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1845029"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002472",
- "lbl": "Small cerebral cortex",
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- "val": "HP:0007151"
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- ],
- "definition": {
- "val": "Reduced size of the cerebral cortex.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of cerebral cortex"
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- ],
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- "val": "UMLS:C1837503"
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- ]
- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002474",
- "lbl": "Expressive language delay",
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- "definition": {
- "val": "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.",
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- "HPO:probinson"
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Deficit in expressive language"
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- "val": "SNOMEDCT_US:229734008"
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- "val": "UMLS:C0454641"
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- "val": "UMLS:C1847610"
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- "val": "UMLS:C4280573"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002475",
- "lbl": "Myelomeningocele",
- "meta": {
- "comments": [
- "Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits."
- ],
- "definition": {
- "val": "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Meningomyelocele"
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- {
- "pred": "hasExactSynonym",
- "val": "Spina bifida cystica",
- "xrefs": [
- "HPO:sdoelken"
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- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4309"
- },
- {
- "val": "MSH:D008591"
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- {
- "val": "SNOMEDCT_US:203994003"
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- {
- "val": "SNOMEDCT_US:414667000"
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- {
- "val": "UMLS:C0025312"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002476",
- "lbl": "Primitive reflex",
- "meta": {
- "definition": {
- "val": "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.",
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- "PMID:12700289"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Archaic reflex"
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- {
- "pred": "hasExactSynonym",
- "val": "Primitive reflexes"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1838319"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002478",
- "lbl": "Progressive spastic quadriplegia",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Progressive spastic quadriparesis"
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- ],
- "xrefs": [
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- "val": "UMLS:C1859736"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002480",
- "lbl": "Hepatic encephalopathy",
- "meta": {
- "definition": {
- "val": "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.",
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- "HPO:probinson"
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- {
- "val": "MSH:D006501"
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- {
- "val": "SNOMEDCT_US:13920009"
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- "val": "SNOMEDCT_US:449902003"
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- "val": "UMLS:C0019151"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002483",
- "lbl": "Bulbar signs",
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- "xrefs": [
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- "val": "UMLS:C1856507"
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- ]
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002486",
- "lbl": "Myotonia",
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- "comments": [
- "Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers."
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- "definition": {
- "val": "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.",
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- "HPO:probinson"
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- "val": "Delayed relaxation of muscle fibres after contraction"
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- {
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- "val": "Delayed relaxation of muscle fibers after contraction"
- }
- ],
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- "val": "SNOMEDCT_US:3434004"
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- "val": "UMLS:C0027125"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002487",
- "lbl": "Hyperkinetic movements",
- "meta": {
- "definition": {
- "val": "Motor hyperactivity with excessive movement of muscles of the body as a whole.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle spasms",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkinesia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkinesis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006948"
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- {
- "val": "MSH:D013035"
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- {
- "val": "SNOMEDCT_US:44548000"
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- {
- "val": "SNOMEDCT_US:45352006"
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- {
- "val": "UMLS:C0037763"
- },
- {
- "val": "UMLS:C0424295"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002488",
- "lbl": "Acute leukemia",
- "meta": {
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- "val": "2008-03-27T10:32:00Z"
- }
- ],
- "definition": {
- "val": "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).",
- "xrefs": [
- "NCIT:C9300"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute leukaemia"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acute blood cancer",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Acute leukemias"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:24072005"
- },
- {
- "val": "SNOMEDCT_US:91855006"
- },
- {
- "val": "UMLS:C0085669"
- },
- {
- "val": "UMLS:C4280572"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002490",
- "lbl": "Increased CSF lactate",
- "meta": {
- "definition": {
- "val": "Increased concentration of lactate in the cerebrospinal fluid.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperlactatorachia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased CSF lactic acid"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased cerebrospinal fluid lactate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1167918"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002491",
- "lbl": "Spasticity of facial muscles",
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- "val": "HP:0000313"
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- "comments": [
- "Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort."
- ],
- "definition": {
- "val": "Spasticity of one or more muscles innervated by the facial nerve."
- },
- "synonyms": [
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- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased stiffness of facial muscles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased tone of facial muscles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- "pred": "hasExactSynonym",
- "val": "Spasticity of the facial muscles"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1853404"
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- {
- "val": "UMLS:C4280570"
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- {
- "val": "UMLS:C4280571"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002492",
- "lbl": "Morphological abnormality of the corticospinal tract",
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- "definition": {
- "val": "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.",
- "xrefs": [
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- },
- "synonyms": [
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- "pred": "hasRelatedSynonym",
- "val": "Abnormality of the corticospinal tract"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Involvement of the corticospinal pathways"
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- ],
- "xrefs": [
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- "val": "UMLS:C4025704"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002493",
- "lbl": "Upper motor neuron dysfunction",
- "meta": {
- "comments": [
- "A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response)."
- ],
- "definition": {
- "val": "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Corticospinal tract dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pyramidal tract dysfunction"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1504405"
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- {
- "val": "UMLS:C1839042"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002494",
- "lbl": "Abnormal rapid eye movement sleep",
- "meta": {
- "definition": {
- "val": "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002495",
- "lbl": "Impaired vibratory sensation",
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- ],
- "comments": [
- "Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex."
- ],
- "definition": {
- "val": "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vibration sense"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vibratory sense"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diminished vibratory sense"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired vibratory sensation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired vibratory sense"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypopallesthesia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:130980003"
- },
- {
- "val": "UMLS:C1295585"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002497",
- "lbl": "Spastic ataxia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:C564815"
- },
- {
- "val": "UMLS:C1849156"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002500",
- "lbl": "Abnormal cerebral white matter morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200100"
- }
- ],
- "comments": [
- "This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex."
- ],
- "definition": {
- "val": "An abnormality of the cerebral white matter.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of subcortical white matter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cerebral white matter"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral white matter abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "White matter abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "White matter alterations"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Leukoaraiosis",
- "xrefs": [
- "PMID:3800716"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cortical white matter abnormalities seen on MRI",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D049292"
- },
- {
- "val": "UMLS:C0948163"
- },
- {
- "val": "UMLS:C4020851"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002501",
- "lbl": "Spasticity of pharyngeal muscles",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1853398"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002503",
- "lbl": "Spinocerebellar tract degeneration",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Degeneration of the spinocerebellar tracts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spinocerebellar degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002504",
- "lbl": "Calcification of the small brain vessels",
- "meta": {
- "comments": [
- "This finding can be made upon neuropathologic examination."
- ],
- "definition": {
- "val": "Deposition of calcium salts within small blood vessels of the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025703"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002505",
- "lbl": "Loss of ambulation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006957"
- }
- ],
- "definition": {
- "val": "Inability to walk in a person who previous had the ability to walk."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of ability to walk"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836843"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002506",
- "lbl": "Diffuse cerebral atrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006954"
- }
- ],
- "definition": {
- "val": "Diffuse unlocalised atrophy affecting the cerebrum.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral atrophy, diffuse"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0598275"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002507",
- "lbl": "Semilobar holoprosencephaly",
- "meta": {
- "definition": {
- "val": "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.",
- "xrefs": [
- "gc:hpe"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D016142"
- },
- {
- "val": "SNOMEDCT_US:253138008"
- },
- {
- "val": "UMLS:C0751617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002508",
- "lbl": "Brainstem dysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006991"
- }
- ],
- "definition": {
- "val": "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Brainstem hypoplasia/dysplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformation of brainstem structures"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855677"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002509",
- "lbl": "Limb hypertonia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased muscle tone of arm or leg",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838391"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002510",
- "lbl": "Spastic tetraplegia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001280"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006983"
- }
- ],
- "definition": {
- "val": "Spastic paralysis affecting all four limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spastic quadriplegia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011782"
- },
- {
- "val": "SNOMEDCT_US:192965001"
- },
- {
- "val": "UMLS:C0426970"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002511",
- "lbl": "Alzheimer disease",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006878"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007213"
- }
- ],
- "comments": [
- "Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features."
- ],
- "definition": {
- "val": "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Alzheimer disease"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late-onset form of familial Alzheimer disease"
- }
- ],
- "xrefs": [
- {
- "val": "DOID:10652"
- },
- {
- "val": "MONDO:0004975"
- },
- {
- "val": "MSH:C536595"
- },
- {
- "val": "MSH:D000544"
- },
- {
- "val": "SNOMEDCT_US:230267005"
- },
- {
- "val": "SNOMEDCT_US:26929004"
- },
- {
- "val": "UMLS:C0002395"
- },
- {
- "val": "UMLS:C1863051"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002512",
- "lbl": "Brain stem compression",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:25816005"
- },
- {
- "val": "SNOMEDCT_US:5582005"
- },
- {
- "val": "UMLS:C0270680"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002514",
- "lbl": "Cerebral calcification",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002502"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005806"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006848"
- }
- ],
- "comments": [
- "This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull."
- ],
- "definition": {
- "val": "The presence of calcium deposition within brain structures.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal deposits of calcium in the brain",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brain calcification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracerebral calcifications"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracranial calcification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracranial calcifications"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:17944005"
- },
- {
- "val": "UMLS:C0270685"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002515",
- "lbl": "Waddling gait",
- "meta": {
- "definition": {
- "val": "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.",
- "xrefs": [
- "PMID:27770207"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Waddling gait"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Waddling walk",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020233"
- },
- {
- "val": "SNOMEDCT_US:271706000"
- },
- {
- "val": "UMLS:C0231712"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002516",
- "lbl": "Increased intracranial pressure",
- "meta": {
- "comments": [
- "Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain."
- ],
- "definition": {
- "val": "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rise in pressure inside skull",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracranial hypertension"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracranial pressure elevation"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pseudotumor cerebri"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D019586"
- },
- {
- "val": "SNOMEDCT_US:271719001"
- },
- {
- "val": "UMLS:C0151740"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002518",
- "lbl": "Abnormal periventricular white matter morphology",
- "meta": {
- "definition": {
- "val": "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the periventricular white matter"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Periventricular white matter abnormalities",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673431"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002519",
- "lbl": "Hypnagogic hallucinations",
- "meta": {
- "comments": [
- "Hypnagogic hallucinations are visual, auditory and tactile sensations are most commonly reported . Visual phenomena typically consist of kaleidoscopically changing phenomena such as geometric patterns, shapes and light flashes. Images involving animals, people and faces, and scenes also occur and are described as lifelike, highly detailed and colorful. Voices and other sounds (phone, doorbell, music) occur less commonly. They comprise vivid auditory impressions of words or names, people talking, and environmental or animal sounds. Somatic experiences also occur, including bodily distortions, feelings of weightlessness, flying or falling, and a sense of presence in the room."
- ],
- "definition": {
- "val": "Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.",
- "xrefs": [
- "PMID:27358492"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006212"
- },
- {
- "val": "SNOMEDCT_US:44780000"
- },
- {
- "val": "UMLS:C0233773"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002521",
- "lbl": "Hypsarrhythmia",
- "meta": {
- "definition": {
- "val": "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypsarrhythmia by EEG"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013036"
- },
- {
- "val": "SNOMEDCT_US:28055006"
- },
- {
- "val": "UMLS:C0684276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002522",
- "lbl": "Areflexia of lower limbs",
- "meta": {
- "definition": {
- "val": "Inability to elicit tendon reflexes in the lower limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent lower limb tendon reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Areflexia in lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Areflexia of the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Areflexia, lower limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856694"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002524",
- "lbl": "Cataplexy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002428"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002525"
- }
- ],
- "comments": [
- "Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage."
- ],
- "definition": {
- "val": "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21931493",
- "PMID:22249574"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D002385"
- },
- {
- "val": "SNOMEDCT_US:46263000"
- },
- {
- "val": "UMLS:C0007384"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002526",
- "lbl": "Deficit in nonword repetition",
- "meta": {
- "definition": {
- "val": "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025702"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002527",
- "lbl": "Falls",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Falls"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:161898004"
- },
- {
- "val": "SNOMEDCT_US:1912002"
- },
- {
- "val": "UMLS:C0085639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002528",
- "lbl": "Granulovacuolar degeneration",
- "meta": {
- "comments": [
- "Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease."
- ],
- "definition": {
- "val": "Electron-dense granules within double membrane-bound cytoplasmic vacuoles.",
- "xrefs": [
- "PMID:22073234"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:90506004"
- },
- {
- "val": "UMLS:C0333454"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002529",
- "lbl": "Neuronal loss in central nervous system",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002400"
- }
- ],
- "comments": [
- "This finding can be demonstrated by neuropathology."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Neuronal loss in CNS"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of brain cells",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neuronal loss"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002530",
- "lbl": "Axial dystonia",
- "meta": {
- "definition": {
- "val": "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Truncal dystonia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836149"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002533",
- "lbl": "Abnormal posturing",
- "meta": {
- "definition": {
- "val": "Involuntary flexion or extension of the arms and legs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:43029002"
- },
- {
- "val": "UMLS:C0231471"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002536",
- "lbl": "Abnormal cortical gyration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006900"
- }
- ],
- "definition": {
- "val": "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Gyral disorganization"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal gyration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral gyral anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856019"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002538",
- "lbl": "Abnormal cerebral cortex morphology",
- "meta": {
- "comments": [
- "The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement."
- ],
- "definition": {
- "val": "Any structural abnormality of the cerebral cortex.",
- "xrefs": [
- "HPO:probinson",
- "PMID:31373394"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cerebral cortex"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025701"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002539",
- "lbl": "Cortical dysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007139"
- }
- ],
- "definition": {
- "val": "The presence of developmental dysplasia of the cerebral cortex.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Neocortical dysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054220"
- },
- {
- "val": "SNOMEDCT_US:253153000"
- },
- {
- "val": "UMLS:C0431380"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002540",
- "lbl": "Inability to walk",
- "meta": {
- "definition": {
- "val": "Incapability to ambulate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to walk"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Non-ambulatory"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:282145008"
- },
- {
- "val": "UMLS:C0560046"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002542",
- "lbl": "Olivopontocerebellar atrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005683"
- }
- ],
- "definition": {
- "val": "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Olivopontocerebellar degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009849"
- },
- {
- "val": "SNOMEDCT_US:67761004"
- },
- {
- "val": "UMLS:C0028968"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002544",
- "lbl": "Retrocollis",
- "meta": {
- "comments": [
- "Retrocollis is a spasmodic form of torticollis in which the head is drawn back."
- ],
- "definition": {
- "val": "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17917462"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3887667"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002545",
- "lbl": "Patchy demyelination of subcortical white matter",
- "meta": {
- "definition": {
- "val": "Patchy loss of myelin from nerve fibers in the central nervous system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1857638"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002546",
- "lbl": "Incomprehensible speech",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Incomprehensible speech"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838027"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002548",
- "lbl": "Parkinsonism with favorable response to dopaminergic medication",
- "meta": {
- "definition": {
- "val": "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Parkinsonism with favourable response to dopaminergic medication"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Favourable response to levodopa"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Favorable response to levodopa"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846868"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002549",
- "lbl": "Deficit in phonologic short-term memory",
- "meta": {
- "definition": {
- "val": "Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory",
- "xrefs": [
- "PMID:19646677"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Deficit in non-word repetition"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impaired non-word repetition"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1847609"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002550",
- "lbl": "Absent facial hair",
- "meta": {
- "definition": {
- "val": "Absence of facial hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent facial hair"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848192"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002552",
- "lbl": "Trichodysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004515"
- }
- ],
- "definition": {
- "val": "Developmental dysplasia of the hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised trichodysplasia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Generalized trichodysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020850"
- },
- {
- "val": "UMLS:C4025700"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002553",
- "lbl": "Highly arched eyebrow",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001584"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004533"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007681"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007804"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008505"
- }
- ],
- "comments": [
- "Most eyebrows have some arch with downturning medially and laterally."
- ],
- "definition": {
- "val": "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Arched eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad, arched eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High, rounded eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High-arched eyebrows"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Highly arched eyebrow"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick, flared eyebrows"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed and upward slanting eyebrows"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High arched eyebrows",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868571"
- },
- {
- "val": "UMLS:C4020849"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002555",
- "lbl": "Absent pubic hair",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0004537"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004556"
- }
- ],
- "definition": {
- "val": "Absence of pubic hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent pubic hair"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859391"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002557",
- "lbl": "Hypoplastic nipples",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002560"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003188"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006652"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the nipple.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nipples"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nipple hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:268290005"
- },
- {
- "val": "UMLS:C0432355"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002558",
- "lbl": "Supernumerary nipple",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002559"
- }
- ],
- "definition": {
- "val": "Presence of more than two nipples.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accessory nipple"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accessory nipples"
- },
- {
- "pred": "hasExactSynonym",
- "val": "accessory mamilla"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Supernumerary nipples"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "accessory mamillas"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased nipple number",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4234"
- },
- {
- "val": "MSH:C562557"
- },
- {
- "val": "SNOMEDCT_US:50956007"
- },
- {
- "val": "UMLS:C0266011"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002561",
- "lbl": "Absent nipple",
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- "comments": [
- "This finding can be unilateral or bilateral."
- ],
- "definition": {
- "val": "Congenital failure to develop, and absence of, the nipple."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent nipple"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent nipples"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Athelia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248820000"
- },
- {
- "val": "UMLS:C0425795"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002562",
- "lbl": "Low-set nipples",
- "meta": {
- "definition": {
- "val": "Placement of the nipples at a lower than normal location.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
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- "val": "Low-set nipples"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836933"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002563",
- "lbl": "Constrictive pericarditis",
- "meta": {
- "definition": {
- "val": "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D010494"
- },
- {
- "val": "SNOMEDCT_US:85598007"
- },
- {
- "val": "UMLS:C0031048"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002564",
- "lbl": "obsolete Malformation of the heart and great vessels",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0030680"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002566",
- "lbl": "Intestinal malrotation",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002026"
- }
- ],
- "definition": {
- "val": "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:12438031"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Malrotation"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Gut malrotation",
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- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10064024"
- },
- {
- "val": "MSH:C562456"
- },
- {
- "val": "SNOMEDCT_US:253789002"
- },
- {
- "val": "SNOMEDCT_US:29980002"
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- {
- "val": "SNOMEDCT_US:48641006"
- },
- {
- "val": "UMLS:C0221210"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002570",
- "lbl": "Steatorrhea",
- "meta": {
- "definition": {
- "val": "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Greasy stools"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Fat in faeces"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fat in feces",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fatty stool"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D045602"
- },
- {
- "val": "SNOMEDCT_US:27868004"
- },
- {
- "val": "SNOMEDCT_US:66187002"
- },
- {
- "val": "UMLS:C0038238"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002571",
- "lbl": "Achalasia",
- "meta": {
- "comments": [
- "Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing."
- ],
- "definition": {
- "val": "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Achalasia of the oesophagus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Achalasia of the esophagus"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10030136"
- },
- {
- "val": "MSH:D004931"
- },
- {
- "val": "SNOMEDCT_US:45564002"
- },
- {
- "val": "UMLS:C0014848"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002572",
- "lbl": "Episodic vomiting",
- "meta": {
- "definition": {
- "val": "Paroxysmal, recurrent episodes of vomiting.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Episodic vomiting"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent vomiting",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838993"
- },
- {
- "val": "UMLS:C1857202"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002573",
- "lbl": "Hematochezia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002255"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002609"
- }
- ],
- "comments": [
- "Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis."
- ],
- "definition": {
- "val": "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.",
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- "DDD:hfirth"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rectal bleeding"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent rectal bleeding",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006471"
- },
- {
- "val": "SNOMEDCT_US:236068001"
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- {
- "val": "SNOMEDCT_US:405729008"
- },
- {
- "val": "UMLS:C0018932"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002574",
- "lbl": "Episodic abdominal pain",
- "meta": {
- "definition": {
- "val": "An intermittent form of abdominal pain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent abdominal pain"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0262527"
- },
- {
- "val": "UMLS:C3808022"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002575",
- "lbl": "Tracheoesophageal fistula",
- "meta": {
- "definition": {
- "val": "An abnormal connection (fistula) between the esophagus and the trachea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal connection between trachea and oesophagus"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal connection between trachea and esophagus",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4202"
- },
- {
- "val": "MEDDRA:10044310"
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- {
- "val": "MSH:D014138"
- },
- {
- "val": "SNOMEDCT_US:95435007"
- },
- {
- "val": "UMLS:C0040588"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002576",
- "lbl": "Intussusception",
- "meta": {
- "comments": [
- "Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel."
- ],
- "definition": {
- "val": "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10022863"
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- {
- "val": "MSH:D007443"
- },
- {
- "val": "SNOMEDCT_US:35327006"
- },
- {
- "val": "SNOMEDCT_US:49723003"
- },
- {
- "val": "UMLS:C0021933"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002577",
- "lbl": "Abnormal stomach morphology",
- "meta": {
- "comments": [
- "The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine."
- ],
- "definition": {
- "val": "An abnormality of the stomach.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the stomach"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025699"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002578",
- "lbl": "Gastroparesis",
- "meta": {
- "definition": {
- "val": "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed gastric emptying",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018589"
- },
- {
- "val": "SNOMEDCT_US:196753007"
- },
- {
- "val": "SNOMEDCT_US:235675006"
- },
- {
- "val": "UMLS:C0152020"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002579",
- "lbl": "Gastrointestinal dysmotility",
- "meta": {
- "definition": {
- "val": "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "GI dysmotility"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1836923"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002580",
- "lbl": "Volvulus",
- "meta": {
- "comments": [
- "Volvulus can lead to intestinal obstruction and ischemia."
- ],
- "definition": {
- "val": "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D045822"
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- {
- "val": "SNOMEDCT_US:90738007"
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- {
- "val": "SNOMEDCT_US:9707006"
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- {
- "val": "UMLS:C0042961"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002582",
- "lbl": "Atrophic gastritis",
- "meta": {
- "comments": [
- "Atrophy of the gastric mucosa is the endpoint of chronic processes, such as chronic gastritis associated with Helicobacter pylori (H. pylori) infection, other unidentified environmental factors, and autoimmunity directed against gastric glandular cells."
- ],
- "definition": {
- "val": "Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.",
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- "HPO:probinson",
- "PMID:21483628"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Chronic atrophic gastritis"
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- ],
- "xrefs": [
- {
- "val": "MSH:D005757"
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- {
- "val": "SNOMEDCT_US:84568007"
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- {
- "val": "UMLS:C0017154"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002583",
- "lbl": "Colitis",
- "meta": {
- "definition": {
- "val": "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D003092"
- },
- {
- "val": "SNOMEDCT_US:64226004"
- },
- {
- "val": "UMLS:C0009319"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002584",
- "lbl": "Intestinal bleeding",
- "meta": {
- "definition": {
- "val": "Bleeding from the intestines.",
- "xrefs": [
- "DDD:akelly"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intestinal bleeding"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intestinal haemorrhage"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intestinal hemorrhage"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:712510007"
- },
- {
- "val": "UMLS:C0267373"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002585",
- "lbl": "Abnormality of the peritoneum",
- "meta": {
- "comments": [
- "The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs."
- ],
- "definition": {
- "val": "An abnormality of the peritoneum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025698"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002586",
- "lbl": "Peritonitis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100591"
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- ],
- "definition": {
- "val": "Inflammation of the peritoneum.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Inflammation of the peritoneum"
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- ],
- "xrefs": [
- {
- "val": "MSH:D010538"
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- {
- "val": "SNOMEDCT_US:48661000"
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- {
- "val": "UMLS:C0031154"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002587",
- "lbl": "Projectile vomiting",
- "meta": {
- "definition": {
- "val": "Vomiting that ejects the gastric contents with great force.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Projectile vomiting"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:8579004"
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- {
- "val": "UMLS:C0221151"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002588",
- "lbl": "Duodenal ulcer",
- "meta": {
- "definition": {
- "val": "An erosion of the mucous membrane in a portion of the duodenum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10013836"
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- {
- "val": "MSH:D004381"
- },
- {
- "val": "SNOMEDCT_US:367474008"
- },
- {
- "val": "SNOMEDCT_US:51868009"
- },
- {
- "val": "UMLS:C0013295"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002589",
- "lbl": "Gastrointestinal atresia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "GI atresia"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025697"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002590",
- "lbl": "Paralytic ileus",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D007418"
- },
- {
- "val": "SNOMEDCT_US:55525008"
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- {
- "val": "UMLS:C0030446"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002591",
- "lbl": "Polyphagia",
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- "val": "HP:0002042"
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- ],
- "definition": {
- "val": "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Voracious appetite"
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased appetite"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperphagia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006963"
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- {
- "val": "SNOMEDCT_US:267023007"
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- {
- "val": "SNOMEDCT_US:58424009"
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- {
- "val": "SNOMEDCT_US:72405004"
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- {
- "val": "UMLS:C0020505"
- },
- {
- "val": "UMLS:C0232461"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002592",
- "lbl": "Gastric ulcer",
- "meta": {
- "comments": [
- "The presence of a mucosal erosion equal to or greater than 0.5 cm."
- ],
- "definition": {
- "val": "An ulcer, that is, an erosion of an area of the gastric mucous membrane.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stomach ulcer"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10017822"
- },
- {
- "val": "MSH:D013276"
- },
- {
- "val": "SNOMEDCT_US:397825006"
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- {
- "val": "UMLS:C0038358"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002593",
- "lbl": "Intestinal lymphangiectasia",
- "meta": {
- "definition": {
- "val": "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D008201"
- },
- {
- "val": "SNOMEDCT_US:197260007"
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- {
- "val": "UMLS:C0024215"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002594",
- "lbl": "Pancreatic hypoplasia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005221"
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- ],
- "comments": [
- "Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size."
- ],
- "definition": {
- "val": "Hypoplasia of the pancreas.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped pancreas",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
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- "pred": "hasExactSynonym",
- "val": "Hypoplastic pancreas"
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- ],
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- {
- "val": "SNOMEDCT_US:68591005"
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- {
- "val": "UMLS:C0266267"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002595",
- "lbl": "Ileus",
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- "val": "Acute obstruction of the intestines preventing passage of the contents of the intestines.",
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- "HPO:sdoelken"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gastrointestinal atony",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10021328"
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- {
- "val": "MSH:D045823"
- },
- {
- "val": "UMLS:C1258215"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002597",
- "lbl": "Abnormality of the vasculature",
- "meta": {
- "definition": {
- "val": "An abnormality of the vasculature.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the vasculature"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Vascular abnormalities"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of blood vessels",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "UMLS:C0241657"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002599",
- "lbl": "Head titubation",
- "meta": {
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- "Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement\nof the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea."
- ],
- "definition": {
- "val": "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1608410"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002600",
- "lbl": "Hyporeflexia of lower limbs",
- "meta": {
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- "comments": [
- "Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain."
- ],
- "definition": {
- "val": "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Hyporeflexia of the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyporeflexia, lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyporeflexia/areflexia in lower limbs"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1834696"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002601",
- "lbl": "Paresis of extensor muscles of the big toe",
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- "val": "UMLS:C4025696"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002604",
- "lbl": "Gastrointestinal telangiectasia",
- "meta": {
- "comments": [
- "Telangiectasia affecting stomach, duodenum, small bowel, and/or colon."
- ],
- "definition": {
- "val": "Telangiectasia affecting the gastrointestinal tract.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "GI telangiectasia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small, enlarged blood vessels near skin",
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- "ORCID:0000-0002-6548-5200"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1619711"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002605",
- "lbl": "Hepatic necrosis",
- "meta": {
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- "val": "2008-02-20T11:32:00Z"
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- ],
- "definition": {
- "val": "The presence of cell death (necrosis) affecting the liver.",
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- "HPO:probinson"
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- {
- "val": "SNOMEDCT_US:87248009"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002607",
- "lbl": "Bowel incontinence",
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- "definition": {
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- "val": "Faecal incontinence"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of bowel control",
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- {
- "pred": "hasExactSynonym",
- "val": "Anal incontinence"
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- {
- "pred": "hasExactSynonym",
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- ],
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- "val": "MSH:D005242"
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- "val": "SNOMEDCT_US:72042002"
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- "val": "UMLS:C0015732"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002608",
- "lbl": "Celiac disease",
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- "definition": {
- "val": "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.",
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- "val": "Coeliac disease"
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- "pred": "hasExactSynonym",
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- "val": "Coeliac sprue"
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- "pred": "hasExactSynonym",
- "val": "Celiac sprue"
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- "val": "MSH:D002446"
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- "val": "SNOMEDCT_US:396331005"
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- "val": "UMLS:C0007570"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002611",
- "lbl": "Cholestatic liver disease",
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- "val": "UMLS:C0860204"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002612",
- "lbl": "Congenital hepatic fibrosis",
- "meta": {
- "comments": [
- "Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis)."
- ],
- "definition": {
- "val": "The presence of fibrosis of that part of the liver with congenital onset.",
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- },
- "synonyms": [
- {
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital liver fibrosis"
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- ],
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- "val": "MSH:C562378"
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- "val": "SNOMEDCT_US:79607001"
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- "val": "UMLS:C0009714"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002613",
- "lbl": "Biliary cirrhosis",
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- "val": "MSH:D008105"
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- "val": "SNOMEDCT_US:1761006"
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- "val": "SNOMEDCT_US:31712002"
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- "val": "UMLS:C0008312"
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- "val": "UMLS:C0023892"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002614",
- "lbl": "Hepatic periportal necrosis",
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- "definition": {
- "val": "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.",
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- "val": "UMLS:C0546389"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002615",
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- "definition": {
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002616",
- "lbl": "Aortic root aneurysm",
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- "definition": {
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- "id": "http://purl.obolibrary.org/obo/HP_0002617",
- "lbl": "Vascular dilatation",
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- "Aneurysm is considered a severe form of dilatation."
- ],
- "definition": {
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- "lbl": "Varicose veins",
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- "id": "http://purl.obolibrary.org/obo/HP_0002625",
- "lbl": "Deep venous thrombosis",
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- "val": "Deep vein thrombosis"
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- "pred": "hasExactSynonym",
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- "val": "SNOMEDCT_US:128053003"
- },
- {
- "val": "UMLS:C0149871"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002626",
- "lbl": "Venous varicosities of celiac and mesenteric vessels",
- "meta": {
- "definition": {
- "val": "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Venous varicosities of coeliac and mesenteric vessels"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857692"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002627",
- "lbl": "Right aortic arch with mirror image branching",
- "meta": {
- "definition": {
- "val": "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.",
- "xrefs": [
- "DDD:dbrown",
- "HPO:sdoelken"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025695"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002629",
- "lbl": "Gastrointestinal arteriovenous malformation",
- "meta": {
- "definition": {
- "val": "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "GI arteriovenous malformation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0744321"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002630",
- "lbl": "Fat malabsorption",
- "meta": {
- "definition": {
- "val": "Abnormality of the absorption of fat from the gastrointestinal tract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:197494007"
- },
- {
- "val": "UMLS:C0554103"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002631",
- "lbl": "obsolete Dilatation of ascending aorta",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0002616"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002632",
- "lbl": "Low-to-normal blood pressure",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Low-to-normal BP"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low-to-normal blood pressure"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866500"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002633",
- "lbl": "Vasculitis",
- "meta": {
- "definition": {
- "val": "Inflammation of blood vessel.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammation of blood vessel",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angiitis",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014657"
- },
- {
- "val": "SNOMEDCT_US:31996006"
- },
- {
- "val": "UMLS:C0042384"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002634",
- "lbl": "Arteriosclerosis",
- "meta": {
- "comments": [
- "Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries."
- ],
- "definition": {
- "val": "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hardened artery wall",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001161"
- },
- {
- "val": "SNOMEDCT_US:107671003"
- },
- {
- "val": "SNOMEDCT_US:28960008"
- },
- {
- "val": "SNOMEDCT_US:72092001"
- },
- {
- "val": "UMLS:C0003850"
- },
- {
- "val": "UMLS:C4280568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002635",
- "lbl": "Type IV atherosclerotic lesion",
- "meta": {
- "definition": {
- "val": "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.",
- "xrefs": [
- "PMID:7648691"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Atheromatosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D050197"
- },
- {
- "val": "SNOMEDCT_US:38716007"
- },
- {
- "val": "UMLS:C0004153"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002636",
- "lbl": "Dilatation of an abdominal artery",
- "meta": {
- "comments": [
- "Aneurysm is considered a severe form of dilatation."
- ],
- "definition": {
- "val": "Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "val": "Aneurysm of an abdominal artery"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025694"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002637",
- "lbl": "Cerebral ischemia",
- "meta": {
- "definition": {
- "val": "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disruption of blood oxygen supply to brain",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brain ischemia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebrovascular ischemia",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002545"
- },
- {
- "val": "SNOMEDCT_US:287731003"
- },
- {
- "val": "SNOMEDCT_US:389100007"
- },
- {
- "val": "UMLS:C0007786"
- },
- {
- "val": "UMLS:C0917798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002638",
- "lbl": "Superficial thrombophlebitis",
- "meta": {
- "definition": {
- "val": "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:2477008"
- },
- {
- "val": "UMLS:C1510431"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002639",
- "lbl": "Budd-Chiari syndrome",
- "meta": {
- "definition": {
- "val": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16265183"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006502"
- },
- {
- "val": "SNOMEDCT_US:82385007"
- },
- {
- "val": "UMLS:C0856761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002640",
- "lbl": "Hypertension associated with pheochromocytoma",
- "meta": {
- "definition": {
- "val": "A type of hypertension associated with pheochromocytoma.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025693"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002641",
- "lbl": "Peripheral thrombosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Peripheral blood clot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849749"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002642",
- "lbl": "Arteriovenous fistulas of celiac and mesenteric vessels",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Arteriovenous fistulas of coeliac and mesenteric vessels"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857693"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002643",
- "lbl": "Neonatal respiratory distress",
- "meta": {
- "definition": {
- "val": "Respiratory difficulty as newborn.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Infantile respiratory distress"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Neonatal respiratory distress"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Newborn respiratory distress"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Respiratory distress, neonatal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0852283"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002644",
- "lbl": "Abnormal pelvic girdle bone morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of pelvic girdle bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of pelvic girdle bone morphology"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of the pelvic girdle"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020847"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002645",
- "lbl": "Wormian bones",
- "meta": {
- "comments": [
- "Irregular, solated bones in the lambdoidal suture or at the fontanelles."
- ],
- "definition": {
- "val": "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra bones within cranial sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intra sutural bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intrasutural bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Islands of bone within cranial sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:113194005"
- },
- {
- "val": "UMLS:C0222716"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002647",
- "lbl": "Aortic dissection",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002622"
- }
- ],
- "definition": {
- "val": "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tear in inner wall of large artery that carries blood away from heart",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:308546005"
- },
- {
- "val": "UMLS:C0340643"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002648",
- "lbl": "obsolete Abnormality of calvarial morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0002683"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002650",
- "lbl": "Scoliosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002770"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003303"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003317"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003415"
- }
- ],
- "definition": {
- "val": "The presence of an abnormal lateral curvature of the spine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "Fyler:4160"
- },
- {
- "val": "MSH:D013121"
- },
- {
- "val": "SNOMEDCT_US:111266001"
- },
- {
- "val": "SNOMEDCT_US:64217002"
- },
- {
- "val": "UMLS:C0037932"
- },
- {
- "val": "UMLS:C0700208"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002651",
- "lbl": "Spondyloepimetaphyseal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:254062008"
- },
- {
- "val": "UMLS:C0432211"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002652",
- "lbl": "Skeletal dysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005685"
- }
- ],
- "comments": [
- "The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities."
- ],
- "definition": {
- "val": "A general term describing features characterized by abnormal development of bones and connective tissues.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal skeletal development",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010009"
- },
- {
- "val": "SNOMEDCT_US:105985007"
- },
- {
- "val": "SNOMEDCT_US:240190009"
- },
- {
- "val": "UMLS:C0029422"
- },
- {
- "val": "UMLS:C4280567"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002653",
- "lbl": "Bone pain",
- "meta": {
- "definition": {
- "val": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone pain"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:12584003"
- },
- {
- "val": "UMLS:C0151825"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002654",
- "lbl": "Multiple epiphyseal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D010009"
- },
- {
- "val": "SNOMEDCT_US:59708000"
- },
- {
- "val": "UMLS:C0026760"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002655",
- "lbl": "Spondyloepiphyseal dysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002776"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005893"
- }
- ],
- "definition": {
- "val": "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
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- "val": "Delayed opacification of the epiphyses"
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- "type": "CLASS"
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- "lbl": "Neoplasm",
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- "definition": {
- "val": "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).",
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- "val": "Neoplasia"
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- "pred": "hasExactSynonym",
- "val": "Oncological abnormality"
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- "pred": "hasExactSynonym",
- "val": "Tumor"
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- "pred": "hasExactSynonym",
- "val": "Tumour"
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- "pred": "hasRelatedSynonym",
- "val": "Oncology",
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- "val": "MSH:D009369"
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- "id": "http://purl.obolibrary.org/obo/HP_0002666",
- "lbl": "Pheochromocytoma",
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- "val": "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.",
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- "val": "Chromaffin tumours"
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- "val": "Chromaffin tumors",
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- "val": "SNOMEDCT_US:302835009"
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- "val": "SNOMEDCT_US:399343007"
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- "val": "SNOMEDCT_US:85583005"
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- "lbl": "Nephroblastoma",
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- "lbl": "Osteosarcoma",
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- "val": "Osteogenic sarcoma"
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- "val": "NCIT:C9145"
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- "val": "SNOMEDCT_US:21708004"
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- "val": "SNOMEDCT_US:307576001"
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- "val": "UMLS:C0029463"
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- "lbl": "Basal cell carcinoma",
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- "A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life."
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- "definition": {
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- "lbl": "Gastrointestinal carcinoma",
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- "lbl": "Coxa valga",
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- "val": "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).",
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- "lbl": "Cloverleaf skull",
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- "definition": {
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- "val": "UMLS:C4072838"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002678",
- "lbl": "Skull asymmetry",
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- {
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- {
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- "val": "Uneven skull shape",
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- {
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- "val": "Asymmetry of skull",
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- "val": "UMLS:C0424690"
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- "val": "UMLS:C4280562"
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- "val": "UMLS:C4280563"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002679",
- "lbl": "Abnormal sella turcica morphology",
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- "val": "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.",
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- },
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- "val": "Abnormality of the hypophysial fossa",
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- "val": "Abnormality of the pituitary fossa",
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- },
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- "val": "Anomaly of the hypophysial fossa",
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- "val": "Anomaly of the pituitary fossa",
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- ],
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- "val": "UMLS:C4021754"
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- {
- "val": "UMLS:C4072839"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002680",
- "lbl": "J-shaped sella turcica",
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- "definition": {
- "val": "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.",
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- "val": "Hour glass shaped hypophysial fossa",
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- },
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- "val": "Hour glass shaped pituitary fossa",
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- {
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- "val": "Hour glass shaped sella turcica",
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- },
- {
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- "val": "J-shaped sella",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Omega shaped sella turcica",
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- "pred": "hasNarrowSynonym",
- "val": "Omega shaped hypophysial fossa",
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Omega shaped pituitary fossa",
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- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1854718"
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- {
- "val": "UMLS:C4072841"
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- {
- "val": "UMLS:C4072842"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002681",
- "lbl": "Deformed sella turcica",
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal shape of hypophysial fossa",
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- "val": "Abnormal shape of pituitary fossa",
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- "val": "Abnormal shape of sella turcica",
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- "val": "Malformation of hypophysial fossa",
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- {
- "pred": "hasExactSynonym",
- "val": "Malformation of pituitary fossa",
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- {
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- "val": "Malformation of sella turcica",
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1846437"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002682",
- "lbl": "Broad skull",
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- "definition": {
- "val": "Increased width of the skull.",
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- "val": "Wide skull",
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- "val": "Broad cranium",
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- "val": "SNOMEDCT_US:248374004"
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- {
- "val": "UMLS:C0424693"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002683",
- "lbl": "Abnormal calvaria morphology",
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- "comments": [
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- "definition": {
- "val": "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.",
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the calvaria"
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the shape of calvarium"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of calvarium",
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- {
- "val": "UMLS:C4025691"
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- {
- "val": "UMLS:C4280561"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002684",
- "lbl": "Thickened calvaria",
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- "val": "The presence of an abnormally thick calvaria.",
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- "val": "Increased thickness of calvaria",
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- },
- {
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- "val": "Increased thickness of calvarium",
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- },
- {
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- "val": "Increased thickness of cranial vault",
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858452"
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- {
- "val": "UMLS:C4280560"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002686",
- "lbl": "Prenatal maternal abnormality",
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- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Maternal health problem"
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- ],
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- "val": "UMLS:C4025690"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002687",
- "lbl": "Abnormality of frontal sinus",
- "meta": {
- "definition": {
- "val": "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.",
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- "ORCID:0000-0001-5889-4463"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the forehead sinus",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of sinus frontalis",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025689"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002688",
- "lbl": "Absent frontal sinuses",
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- "val": "HP:0005475"
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- "val": "UMLS:C1857131"
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- {
- "val": "UMLS:C3804986"
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- "val": "UMLS:C4072844"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002690",
- "lbl": "Large sella turcica",
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- "val": "An abnormal enlargement of the sella turcica.",
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- "val": "Large hypophysial fossa",
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- {
- "pred": "hasNarrowSynonym",
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- "val": "Large pituitary fossa",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged sella turcica"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent sella turcica"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplasia of sella turcica",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Hyperplasia of hypophysial fossa",
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- "val": "Hyperplasia of pituitary fossa",
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- "xrefs": [
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- "val": "UMLS:C1843677"
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- {
- "val": "UMLS:C4072845"
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- {
- "val": "UMLS:C4072846"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002691",
- "lbl": "Platybasia",
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- "comments": [
- "Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees."
- ],
- "definition": {
- "val": "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.",
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- "HPO:probinson"
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- },
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- ],
- "synonyms": [
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- "val": "Flattening of the skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased basal angle of skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Obtuse basal angle of skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010985"
- },
- {
- "val": "SNOMEDCT_US:86587003"
- },
- {
- "val": "UMLS:C0032209"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002692",
- "lbl": "Hypoplastic facial bones",
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small facial skeleton",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of facial bones",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of facial skeleton",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of facial bones",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of facial skeleton",
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- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattening of facial bones",
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- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattening of facial skeleton",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypoplasia of facial skeleton",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic facial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic facial skeleton",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846438"
- },
- {
- "val": "UMLS:C4229090"
- },
- {
- "val": "UMLS:C4280268"
- },
- {
- "val": "UMLS:C4280557"
- },
- {
- "val": "UMLS:C4280558"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002693",
- "lbl": "Abnormality of the skull base",
- "meta": {
- "definition": {
- "val": "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the skull base"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cranial base",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025688"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002694",
- "lbl": "Sclerosis of skull base",
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- "val": "HP:0005757"
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- ],
- "definition": {
- "val": "Increased bone density of the skull base without significant changes in bony contour.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dense bone of skull base",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "HyperCalcification of skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "HyperMineralization of skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Marked sclerosis of skull base"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerosis of the skull base"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerotic skull base"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperossification of skull base",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of skull base",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerosis of cranial base",
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- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851714"
- },
- {
- "val": "UMLS:C4072847"
- },
- {
- "val": "UMLS:C4072848"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002695",
- "lbl": "obsolete Symmetrical, oval parietal bone defects",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002696",
- "lbl": "Abnormal parietal bone morphology",
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- "definition": {
- "val": "Any abnormality of the parietal bone of the skull.",
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- "HPO:curators"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the parietal bone"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the parietal bone of skull",
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- "xrefs": [
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- "val": "UMLS:C4021834"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002697",
- "lbl": "Parietal foramina",
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- "comments": [
- "Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy."
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- "definition": {
- "val": "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.",
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- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Holes in parietal bones",
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Openings in parietal bones",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Symmetrical, oval defects in the parietal bone"
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- {
- "pred": "hasExactSynonym",
- "val": "Symmetrical, oval parietal bone defects"
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- {
- "pred": "hasExactSynonym",
- "val": "Persistent foramina of the parietal bones",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:11240000"
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- {
- "val": "SNOMEDCT_US:29307005"
- },
- {
- "val": "UMLS:C0222706"
- },
- {
- "val": "UMLS:C4280556"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002699",
- "lbl": "Abnormal foramen magnum morphology",
- "meta": {
- "comments": [
- "The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull."
- ],
- "definition": {
- "val": "Any abnormality of the foramen magnum.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the foramen magnum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025687"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002700",
- "lbl": "Large foramen magnum",
- "meta": {
- "definition": {
- "val": "An abnormal increase in the size of the foramen magnum.",
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- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big foramen magnum",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged foramen magnum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dilation of foramen magnum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide foramen magnum",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Increased circumference of foramen magnum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Increased diameter of foramen magnum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844508"
- },
- {
- "val": "UMLS:C4073291"
- },
- {
- "val": "UMLS:C4280554"
- },
- {
- "val": "UMLS:C4280555"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002703",
- "lbl": "Abnormality of skull ossification",
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- "val": "2008-02-28T11:53:00Z"
- }
- ],
- "comments": [
- "The bones of the skull derive directly from mesenchyme cells by intramembranous ossification."
- ],
- "definition": {
- "val": "An abnormality of the process of ossification of the skull.",
- "xrefs": [
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- },
- "synonyms": [
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- "pred": "hasBroadSynonym",
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- },
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- "pred": "hasRelatedSynonym",
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- "val": "Abnormality of bone formation of cranium",
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Abnormality of ossification of calvarium",
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- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Abnormality of ossification of cranium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone calcification of calvarium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone calcification of cranium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone calcification of skull",
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone formation of calvarium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone mineralization of calvarium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone mineralization of cranium",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of bone mineralization of skull",
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- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025686"
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- {
- "val": "UMLS:C4280550"
- },
- {
- "val": "UMLS:C4280551"
- },
- {
- "val": "UMLS:C4280552"
- },
- {
- "val": "UMLS:C4280553"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002705",
- "lbl": "High, narrow palate",
- "meta": {
- "definition": {
- "val": "The presence of a high and narrow palate.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High, narrow palate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow, high-arched roof of mouth",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow, highly arched roof of mouth",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "High narrow palate"
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- {
- "pred": "hasExactSynonym",
- "val": "Narrow and high arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow, high-arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow, highly arched palate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gothic palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "High vaulted palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837404"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002707",
- "lbl": "Palate telangiectasia",
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- "val": "HP:0000229"
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- ],
- "definition": {
- "val": "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Telangiectasia of the roof of the mouth",
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- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Palatal spider veins",
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- },
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of the roof of the mouth",
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- "pred": "hasExactSynonym",
- "val": "Palate telangiectases"
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- {
- "pred": "hasExactSynonym",
- "val": "Palate teleangiectases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Palatal angioectasia",
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- "pred": "hasExactSynonym",
- "val": "Palatal telangiectasia",
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857699"
- },
- {
- "val": "UMLS:C4280267"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002708",
- "lbl": "Prominent median palatal raphe",
- "meta": {
- "definition": {
- "val": "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent central ridge on roof of the mouth",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent central palatal ridge",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent medial palatal suture",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
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- {
- "val": "UMLS:C1845108"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002710",
- "lbl": "Commissural lip pit",
- "meta": {
- "comments": [
- "Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture."
- ],
- "definition": {
- "val": "A depression located at an oral commissure.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lip pits at corners of the mouth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pits at the corners of the lips",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Commissural pit"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Commissural labial pits",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0399605"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002711",
- "lbl": "Exaggerated median tongue furrow",
- "meta": {
- "definition": {
- "val": "Increased depth of the median tongue furrow.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep central lingual groove",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep central tongue groove",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep central lingual furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep central tongue furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep median lingual furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep median lingual groove",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep median tongue furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep median tongue groove",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Exaggerated median lingual furrow",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845109"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002714",
- "lbl": "Downturned corners of mouth",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000192"
- }
- ],
- "comments": [
- "This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms)."
- ],
- "definition": {
- "val": "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Downturned corners of mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Downturned corners of the mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Downturned mouth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Downturned oral commisures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866195"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002715",
- "lbl": "Abnormality of the immune system",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003257"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003346"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010986"
- }
- ],
- "comments": [
- "The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages."
- ],
- "definition": {
- "val": "An abnormality of the immune system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the immune system"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Immunological abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021753"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002716",
- "lbl": "Lymphadenopathy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002735"
- }
- ],
- "definition": {
- "val": "Enlargment (swelling) of a lymph node.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Swollen lymph nodes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lymph node hyperplasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000072281"
- },
- {
- "val": "SNOMEDCT_US:30746006"
- },
- {
- "val": "UMLS:C0497156"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002717",
- "lbl": "Adrenal overactivity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-02-25T10:41:00Z"
- }
- ],
- "comments": [
- "Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex."
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025685"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002718",
- "lbl": "Recurrent bacterial infections",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005355"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005361"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005367"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005391"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005393"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005410"
- }
- ],
- "definition": {
- "val": "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bacterial infections, recurrent"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent bacterial infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased susceptibility to bacterial infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent bacterial infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent major bacterial infections"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prone to bacterial infection"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Frequent pyogenic infections"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent pyogenic infections"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Susceptibility to pyogenic infection"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:428875002"
- },
- {
- "val": "UMLS:C1844383"
- },
- {
- "val": "UMLS:C2748958"
- },
- {
- "val": "UMLS:C4020846"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002719",
- "lbl": "Recurrent infections",
- "meta": {
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- "val": "HP:0002957"
- },
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- "val": "HP:0002964"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005405"
- }
- ],
- "definition": {
- "val": "Increased susceptibility to infections.",
- "xrefs": [
- "HPO:probinson",
- "HPO:skoehler"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Frequent, severe infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased frequency of infection"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Predisposition to infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent infections"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Susceptibility to infection"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0239998"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002720",
- "lbl": "Decreased circulating IgA level",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005358"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005399"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005431"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008350"
- }
- ],
- "definition": {
- "val": "Decreased levels of immunoglobulin A (IgA).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased IgA"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased immunoglobulin A"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gamma-A globulin deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "IgA deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low levels of immunoglobulin A"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced IgA levels"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017098"
- },
- {
- "val": "SNOMEDCT_US:29260007"
- },
- {
- "val": "UMLS:C0162538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002721",
- "lbl": "Immunodeficiency",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005371"
- }
- ],
- "definition": {
- "val": "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.",
- "xrefs": [
- "PMID:20042227"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased immune function",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Immune deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007153"
- },
- {
- "val": "SNOMEDCT_US:234532001"
- },
- {
- "val": "UMLS:C0021051"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002722",
- "lbl": "Recurrent abscess formation",
- "meta": {
- "definition": {
- "val": "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025684"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002723",
- "lbl": "Absence of bactericidal oxidative respiratory burst in phagocytes",
- "meta": {
- "definition": {
- "val": "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.",
- "xrefs": [
- "GO:0045728"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1844385"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002724",
- "lbl": "Recurrent Aspergillus infections",
- "meta": {
- "definition": {
- "val": "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Aspergillus infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002725",
- "lbl": "Systemic lupus erythematosus",
- "meta": {
- "comments": [
- "This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease."
- ],
- "definition": {
- "val": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "SLE"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008180"
- },
- {
- "val": "SNOMEDCT_US:55464009"
- },
- {
- "val": "UMLS:C0024141"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002726",
- "lbl": "Recurrent Staphylococcus aureus infections",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Staphylococcus aureus infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002728",
- "lbl": "Chronic mucocutaneous candidiasis",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005392"
- }
- ],
- "comments": [
- "The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders."
- ],
- "definition": {
- "val": "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20859203"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Chronic candidiasis of mucosa, skin and nails"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mucocutaneous candidiasis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002178"
- },
- {
- "val": "SNOMEDCT_US:234568006"
- },
- {
- "val": "UMLS:C0006845"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002729",
- "lbl": "Follicular hyperplasia",
- "meta": {
- "comments": [
- "Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96)."
- ],
- "definition": {
- "val": "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23281438"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4014733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002730",
- "lbl": "Chronic noninfectious lymphadenopathy",
- "meta": {
- "definition": {
- "val": "A chronic form of lymphadenopathy that is not related to infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1858970"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002731",
- "lbl": "Decreased lymphocyte apoptosis",
- "meta": {
- "comments": [
- "Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis."
- ],
- "definition": {
- "val": "A reduction in the rate of apoptosis in lymphocytes.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Defective lymphocyte apoptosis"
- }
- ],
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- {
- "val": "UMLS:C1858969"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002732",
- "lbl": "Lymph node hypoplasia",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the lymph nodes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small lymph nodes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865377"
- },
- {
- "val": "UMLS:C4025683"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002733",
- "lbl": "Abnormal lymph node morphology",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008149"
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- ],
- "definition": {
- "val": "A structural lymph node abnormality.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal lymph node histology"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lymph nodes"
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- ],
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- {
- "val": "UMLS:C0149727"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002737",
- "lbl": "Thick skull base",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Thick skull base"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased thickness of bone of skull base",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased thickness of skull base",
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- "val": "UMLS:C1839507"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002738",
- "lbl": "Hypoplastic frontal sinuses",
- "meta": {
- "definition": {
- "val": "Underdevelopment of frontal sinus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped frontal sinuses"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased volume of frontal sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Small frontal sinuses",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasNarrowSynonym",
- "val": "Decreased pneumatization of frontal sinus",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic frontal sinus",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859682"
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- {
- "val": "UMLS:C4280548"
- },
- {
- "val": "UMLS:C4280549"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002740",
- "lbl": "Recurrent E. coli infections",
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- "definition": {
- "val": "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "E coli infections"
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- {
- "pred": "hasExactSynonym",
- "val": "E coli infections, recurrent",
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- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004927"
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- {
- "val": "SNOMEDCT_US:71057007"
- },
- {
- "val": "UMLS:C0014836"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002741",
- "lbl": "Recurrent Serratia marcescens infections",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025682"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002742",
- "lbl": "Recurrent Klebsiella infections",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Klebsiella infections, recurrent",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002743",
- "lbl": "Recurrent enteroviral infections",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025681"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002744",
- "lbl": "Bilateral cleft lip and palate",
- "meta": {
- "definition": {
- "val": "Cleft lip and cleft palate affecting both sides of the face.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Right and left cleft lip and palate",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral cleft lip and cleft palate"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:1085331000119107"
- },
- {
- "val": "UMLS:C1398522"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002745",
- "lbl": "Oral leukoplakia",
- "meta": {
- "comments": [
- "The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart."
- ],
- "definition": {
- "val": "A thickened white patch on the oral mucosa that cannot be rubbed off.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17944749"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- {
- "pred": "hasExactSynonym",
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- "val": "Oral white patch",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral idiopathic keratosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral idiopathic leukoplakia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral idiopathic white patch",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral leucoplakia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral leukokeratosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral leukoplasia",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oral white plaque",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "leukokeratosis",
- "xrefs": [
- "HPO:SKOEHLER"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007971"
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- {
- "val": "MSH:D007972"
- },
- {
- "val": "SNOMEDCT_US:414603003"
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- {
- "val": "SNOMEDCT_US:9187004"
- },
- {
- "val": "UMLS:C0023532"
- },
- {
- "val": "UMLS:C1704317"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002747",
- "lbl": "Respiratory insufficiency due to muscle weakness",
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- "val": "Decreased lung function due to weak breathing muscles",
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- "pred": "hasExactSynonym",
- "val": "Decreased respiratory function due to muscle weakness"
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- "pred": "hasExactSynonym",
- "val": "Respiratory distress due to muscle weakness"
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- "pred": "hasExactSynonym",
- "val": "Respiratory failure due to muscle weakness"
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- "pred": "hasExactSynonym",
- "val": "Respiratory muscle weakness"
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- ],
- "xrefs": [
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- "val": "UMLS:C3806467"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002748",
- "lbl": "Rickets",
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- "definition": {
- "val": "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.",
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- "GARD:0005700"
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- },
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- "val": "Weak and soft bones",
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- }
- ],
- "xrefs": [
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- "val": "MSH:D012279"
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- "val": "SNOMEDCT_US:41345002"
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- "val": "UMLS:C0035579"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002749",
- "lbl": "Osteomalacia",
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- "definition": {
- "val": "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.",
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- "val": "Softening of the bones"
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- "xrefs": [
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- "val": "SNOMEDCT_US:4598005"
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- "val": "UMLS:C0029442"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002750",
- "lbl": "Delayed skeletal maturation",
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- "val": "HP:0002806"
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- ],
- "definition": {
- "val": "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.",
- "xrefs": [
- "HPO:curators"
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- },
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- "val": "Delayed skeletal development"
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- "pred": "hasExactSynonym",
- "val": "Delayed bone age"
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- {
- "pred": "hasExactSynonym",
- "val": "Delayed bone age before puberty"
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- {
- "pred": "hasExactSynonym",
- "val": "Retarded bone age"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skeletal maturation retardation"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Retarded ossification"
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- "xrefs": [
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- "val": "SNOMEDCT_US:123983008"
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- "val": "UMLS:C0541764"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002751",
- "lbl": "Kyphoscoliosis",
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- "val": "HP:0003424"
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- "val": "HP:0004593"
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- "val": "HP:0005728"
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- ],
- "definition": {
- "val": "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.",
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- },
- "xrefs": [
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- "val": "SNOMEDCT_US:405773007"
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- "val": "UMLS:C0575158"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002752",
- "lbl": "Sparse bone trabeculae",
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002753",
- "lbl": "Thin bony cortex",
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- "definition": {
- "val": "Abnormal thinning of the cortical region of bones.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Thin cortices"
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- "val": "UMLS:C1833325"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002754",
- "lbl": "Osteomyelitis",
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- "val": "HP:0005901"
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- "comments": [
- "Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents."
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- "definition": {
- "val": "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.",
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- "val": "SNOMEDCT_US:60168000"
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- "val": "UMLS:C0029443"
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- "val": "UMLS:C2242472"
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- "type": "CLASS"
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- {
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- "lbl": "obsolete Osteomyelitis due to immunodeficiency",
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- "deprecated": true
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002756",
- "lbl": "Pathologic fracture",
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- "definition": {
- "val": "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.",
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- "synonyms": [
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- "val": "Spontaneous fracture"
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- },
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- "val": "MSH:D005598"
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- "val": "SNOMEDCT_US:22640007"
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- {
- "val": "SNOMEDCT_US:268029009"
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- {
- "val": "UMLS:C0016663"
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- },
- "type": "CLASS"
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- "lbl": "Recurrent fractures",
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- "val": "HP:0002767"
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- "val": "HP:0002809"
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- ],
- "comments": [
- "This term will be made obsolete. The annotations need to be checked."
- ],
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- "val": "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).",
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- "val": "SNOMEDCT_US:5468008"
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- "lbl": "Generalized joint laxity",
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- "type": "CLASS"
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- "lbl": "Stippled chondral calcification",
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- "See the figure in PMID:29246349"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002766",
- "lbl": "Relatively short spine",
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- "id": "http://purl.obolibrary.org/obo/HP_0002773",
- "lbl": "obsolete Small vertebral bodies",
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- "type": "CLASS"
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- "lbl": "Tracheal stenosis",
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- "lbl": "Abnormal tracheal morphology",
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- "id": "http://purl.obolibrary.org/obo/HP_0002797",
- "lbl": "Osteolysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010737"
- }
- ],
- "comments": [
- "Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms."
- ],
- "definition": {
- "val": "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breakdown of bone",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Osteolytic defects of bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased bone resorption",
- "xrefs": [
- "HPO:sdoelken"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010014"
- },
- {
- "val": "SNOMEDCT_US:203522001"
- },
- {
- "val": "SNOMEDCT_US:30425001"
- },
- {
- "val": "UMLS:C0221204"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002803",
- "lbl": "Congenital contracture",
- "meta": {
- "definition": {
- "val": "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital joint contractures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "congenital contractures",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0332878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002804",
- "lbl": "Arthrogryposis multiplex congenita",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001389"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001390"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002759"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005188"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005663"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005809"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005859"
- }
- ],
- "comments": [
- "Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature."
- ],
- "definition": {
- "val": "Multiple congenital contractures in different body areas.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23050160"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Arthrogryposis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Arthrogryposis multiplex"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Arthrogryposis, congenital"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple congenital contractures"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001176"
- },
- {
- "val": "SNOMEDCT_US:111246005"
- },
- {
- "val": "SNOMEDCT_US:77016009"
- },
- {
- "val": "UMLS:C0003886"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002805",
- "lbl": "Accelerated bone age after puberty",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accelerated bone age after puberty"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860825"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002808",
- "lbl": "Kyphosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002769"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003314"
- }
- ],
- "definition": {
- "val": "Exaggerated anterior convexity of the thoracic vertebral column.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round back"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hunched back",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gibbus deformity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkyphosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007738"
- },
- {
- "val": "SNOMEDCT_US:414564002"
- },
- {
- "val": "UMLS:C0022821"
- },
- {
- "val": "UMLS:C1845112"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002810",
- "lbl": "Dumbbell-shaped metaphyses",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005079"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dumbbell shaped wide portion of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dumbbell shaped metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dumbbell shaped metaphysis",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277123"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002812",
- "lbl": "Coxa vara",
- "meta": {
- "comments": [
- "The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired."
- ],
- "definition": {
- "val": "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D060905"
- },
- {
- "val": "SNOMEDCT_US:74820003"
- },
- {
- "val": "UMLS:C0239138"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002813",
- "lbl": "Abnormality of limb bone morphology",
- "meta": {
- "definition": {
- "val": "Any abnormality of bones of the arms or legs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Arm and/or leg bone differences"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limb abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of limb bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4082761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002814",
- "lbl": "Abnormality of the lower limb",
- "meta": {
- "definition": {
- "val": "An abnormality of the leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the lower limb"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lower limb deformities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the leg"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:449715001"
- },
- {
- "val": "UMLS:C1096086"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002815",
- "lbl": "Abnormality of the knee",
- "meta": {
- "definition": {
- "val": "An abnormality of the knee joint or surrounding structures.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the knee"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025676"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002816",
- "lbl": "Genu recurvatum",
- "meta": {
- "comments": [
- "Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension."
- ],
- "definition": {
- "val": "An abnormally increased extension of the knee joint, so that the knee can bend backwards.",
- "xrefs": [
- "HPO:probinson",
- "PMID:9580896"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Back knee",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/genu_recurvatum"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Knee hyperextension",
- "xrefs": [
- "ORCID:0000-0001-6908-9849",
- "https://en.wikipedia.org/wiki/genu_recurvatum"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Genu recurvata"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10018194"
- },
- {
- "val": "UMLS:C0546964"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002817",
- "lbl": "Abnormality of the upper limb",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003838"
- }
- ],
- "definition": {
- "val": "An abnormality of the arm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the upper limb"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the arm"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020900"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002818",
- "lbl": "Abnormal morphology of the radius",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0045009"
- }
- ],
- "definition": {
- "val": "An abnormality of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the radius"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002821",
- "lbl": "Neuropathic arthropathy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Charcot arthropathy",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Charcot joint",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001177"
- },
- {
- "val": "SNOMEDCT_US:359554008"
- },
- {
- "val": "SNOMEDCT_US:67536000"
- },
- {
- "val": "UMLS:C0003892"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002822",
- "lbl": "Hyperplasia of the femoral trochanters",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplastic femoral trochanters"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277120"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002823",
- "lbl": "Abnormality of femur morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001439"
- }
- ],
- "comments": [
- "The femur (plural: femora) is the thigh bone."
- ],
- "definition": {
- "val": "Any anomaly of the structure of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the femora"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021750"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002825",
- "lbl": "Caudal appendage",
- "meta": {
- "definition": {
- "val": "The presence of a tail-like skin appendage located adjacent to the sacrum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Human tail",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coccygeal tail"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277117"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002826",
- "lbl": "Halberd-shaped pelvis",
- "meta": {
- "definition": {
- "val": "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).",
- "xrefs": [
- "HPO:probinson",
- "PMID:19232556"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Halberd-shaped pelvis bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002827",
- "lbl": "Hip dislocation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001375"
- }
- ],
- "definition": {
- "val": "Displacement of the femur from its normal location in the hip joint.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocated hips"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocation of hip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hip dislocation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006617"
- },
- {
- "val": "SNOMEDCT_US:157265008"
- },
- {
- "val": "UMLS:C0019554"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002828",
- "lbl": "Multiple joint contractures",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:19393004"
- },
- {
- "val": "SNOMEDCT_US:202264009"
- },
- {
- "val": "UMLS:C0158118"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002829",
- "lbl": "Arthralgia",
- "meta": {
- "comments": [
- "Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis."
- ],
- "definition": {
- "val": "Joint pain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint pain",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint pains",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Arthralgias"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Arthritic pain"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018771"
- },
- {
- "val": "SNOMEDCT_US:57676002"
- },
- {
- "val": "UMLS:C0003862"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002831",
- "lbl": "Long coccyx",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long tailbone",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
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- {
- "val": "UMLS:C3277116"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002832",
- "lbl": "Calcific stippling",
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- "val": "HP:0005738"
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- "definition": {
- "val": "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Discrete calcific stippling"
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- "val": "UMLS:C1849993"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002833",
- "lbl": "Cystic angiomatosis of bone",
- "meta": {
- "comments": [
- "The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs."
- ],
- "definition": {
- "val": "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.",
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- "HPO:probinson",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lytic cystic lesions in appendicular bones"
- }
- ],
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- "val": "UMLS:C4021749"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002834",
- "lbl": "Flared femoral metaphysis",
- "meta": {
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- "pred": "hasExactSynonym",
- "val": "Flared metaphysis of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
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- {
- "val": "UMLS:C4025674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002835",
- "lbl": "Aspiration",
- "meta": {
- "definition": {
- "val": "Inspiration of a foreign object into the airway.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Pulmonary aspiration",
- "xrefs": [
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- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:413585005"
- },
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- "val": "SNOMEDCT_US:68052005"
- },
- {
- "val": "UMLS:C0700198"
- },
- {
- "val": "UMLS:C2712334"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002836",
- "lbl": "Bladder exstrophy",
- "meta": {
- "comments": [
- "Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately."
- ],
- "definition": {
- "val": "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.",
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- "HPO:probinson",
- "PMID:23650202"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ectopia vesicae",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001746"
- },
- {
- "val": "SNOMEDCT_US:61758007"
- },
- {
- "val": "UMLS:C0005689"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002837",
- "lbl": "Recurrent bronchitis",
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- "val": "HP:0002785"
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- ],
- "definition": {
- "val": "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.",
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- "HPO:probinson",
- "ISBN:0199747725",
- "PMID:28261574"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bronchitis, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0741796"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002839",
- "lbl": "Urinary bladder sphincter dysfunction",
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- "val": "HP:0000018"
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- "definition": {
- "val": "Abnormal function of a sphincter of the urinary bladder.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Sphincter disturbance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sphincter disturbances"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843663"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002840",
- "lbl": "Lymphadenitis",
- "meta": {
- "definition": {
- "val": "Inflammation of a lymph node.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inflammation of the lymph nodes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008199"
- },
- {
- "val": "SNOMEDCT_US:19471005"
- },
- {
- "val": "UMLS:C0024205"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002841",
- "lbl": "Recurrent fungal infections",
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- "val": "HP:0005380"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005388"
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- ],
- "definition": {
- "val": "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.",
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- },
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- ],
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- "val": "UMLS:C1844384"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002842",
- "lbl": "Recurrent Burkholderia cepacia infections",
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- "definition": {
- "val": "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.",
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- "xrefs": [
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- "val": "UMLS:C4025673"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002843",
- "lbl": "Abnormal T cell morphology",
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- "val": "HP:0030332"
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- ],
- "comments": [
- "T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity."
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- "definition": {
- "val": "An abnormality of T cells.",
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- "HPO:curators"
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- },
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- "pred": "hasExactSynonym",
- "val": "Abnormality of T cells"
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- {
- "pred": "hasExactSynonym",
- "val": "Cellular immune defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Defective cellular immunity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal T cells",
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- "HPO:skoehler"
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- }
- ],
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- "val": "UMLS:C1855752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002845",
- "lbl": "obsolete Increased proportion of peripheral CD3+ T cells",
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- ],
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002846",
- "lbl": "Abnormal B cell morphology",
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- "B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells."
- ],
- "definition": {
- "val": "A structural abnormality of B cells.",
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- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Abnormality of B cells"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal B cells",
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- "val": "UMLS:C4021748"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002847",
- "lbl": "Impaired memory B cell generation",
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- "definition": {
- "val": "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.",
- "xrefs": [
- "HPO:probinson"
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- "val": "UMLS:C4025672"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002848",
- "lbl": "Decreased specific anti-polysaccharide antibody level",
- "meta": {
- "comments": [
- "Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus."
- ],
- "definition": {
- "val": "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasExactSynonym",
- "val": "Depressed antibody response to polysaccharide antigens"
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- "pred": "hasExactSynonym",
- "val": "Low specific anti-polysaccharide antibody titer"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Specific anti-polysaccharide antibody deficiency"
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- ],
- "xrefs": [
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- "val": "UMLS:C4021747"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002849",
- "lbl": "Absence of lymph node germinal center",
- "meta": {
- "definition": {
- "val": "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
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- "val": "Absence of lymph node germinal centre"
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- "val": "Lymph nodes lack germinal centre"
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- "pred": "hasExactSynonym",
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- "val": "Lymphoid germinal centre defect"
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- {
- "pred": "hasExactSynonym",
- "val": "Lymph nodes lack germinal center"
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- {
- "pred": "hasExactSynonym",
- "val": "Lymphoid germinal center defect"
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- ],
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- "val": "UMLS:C1847383"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002850",
- "lbl": "Decreased circulating total IgM",
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- "val": "HP:0005385"
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- "definition": {
- "val": "An abnormally decreased level of immunoglobulin M (IgM) in blood.",
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- "val": "Decreased IgM level"
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- "pred": "hasExactSynonym",
- "val": "IgM deficiency"
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- "pred": "hasExactSynonym",
- "val": "Reduced IgM levels"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002851",
- "lbl": "Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells",
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- "definition": {
- "val": "An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."
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- "pred": "hasExactSynonym",
- "val": "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors"
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- ],
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- "val": "UMLS:C1858973"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002853",
- "lbl": "Increased proportion of HLA DR+ T cells",
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- "definition": {
- "val": "An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.",
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- "val": "UMLS:C1858974"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002857",
- "lbl": "Genu valgum",
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- "definition": {
- "val": "The legs angle inward, such that the knees are close together and the ankles far apart.",
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Knock knees"
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- "pred": "hasExactSynonym",
- "val": "Genu valga"
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- "pred": "hasExactSynonym",
- "val": "Genu valgus"
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- {
- "pred": "hasExactSynonym",
- "val": "Genua valga"
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- {
- "pred": "hasExactSynonym",
- "val": "Knee joint valgus deformity"
- }
- ],
- "xrefs": [
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- "val": "MEDDRA:10023480"
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- "val": "MSH:D056304"
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- "val": "SNOMEDCT_US:299330008"
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- "val": "UMLS:C0576093"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002858",
- "lbl": "Meningioma",
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- "val": "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.",
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- "val": "Noncancerous growth of membranes covering brain",
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- "https://orcid.org/0000-0002-6548-5200"
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- "val": "MSH:D008579"
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- {
- "val": "NCIT:C3230"
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- "val": "UMLS:C0025286"
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- "type": "CLASS"
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- {
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- "lbl": "Rhabdomyosarcoma",
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- "val": "NCIT:C3359"
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- "val": "SNOMEDCT_US:302847003"
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- "val": "SNOMEDCT_US:30924005"
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- "val": "UMLS:C0035412"
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- "lbl": "Squamous cell carcinoma",
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- "val": "MSH:D018307"
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- "val": "NCIT:C2929"
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- "comments": [
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- "val": "Malignant melanoma"
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- "val": "NCIT:C3224"
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- "val": "SNOMEDCT_US:2092003"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002862",
- "lbl": "Bladder carcinoma",
- "meta": {
- "definition": {
- "val": "The presence of a carcinoma of the urinary bladder.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "NCIT:C2916"
- },
- {
- "val": "SNOMEDCT_US:255108000"
- },
- {
- "val": "UMLS:C0699885"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002863",
- "lbl": "Myelodysplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004832"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006730"
- }
- ],
- "definition": {
- "val": "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Myelodysplastic syndrome"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypoplastic myelodysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009190"
- },
- {
- "val": "SNOMEDCT_US:109995007"
- },
- {
- "val": "SNOMEDCT_US:128623006"
- },
- {
- "val": "SNOMEDCT_US:188736006"
- },
- {
- "val": "UMLS:C1851971"
- },
- {
- "val": "UMLS:C3463824"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002864",
- "lbl": "Paraganglioma of head and neck",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Paragangliomas, head and neck"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1333944"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002865",
- "lbl": "Medullary thyroid carcinoma",
- "meta": {
- "definition": {
- "val": "The presence of a medullary carcinoma of the thyroid gland.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Medullary thyroid cancer",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536914"
- },
- {
- "val": "NCIT:C3879"
- },
- {
- "val": "SNOMEDCT_US:128916007"
- },
- {
- "val": "SNOMEDCT_US:255032005"
- },
- {
- "val": "UMLS:C0238462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002866",
- "lbl": "Hypoplastic iliac wing",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003169"
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- "val": "HP:0003181"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008837"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the ilium ala.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "pred": "hasExactSynonym",
- "val": "Hypoplastic iliac wings"
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- {
- "pred": "hasExactSynonym",
- "val": "Small iliac wings"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1865027"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002867",
- "lbl": "Abnormal ilium morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the ilium, the largest and uppermost bone of the pelvis.",
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- "HPO:probinson"
- ]
- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the ilium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Iliac abnormalities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021746"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002868",
- "lbl": "Narrow iliac wing",
- "meta": {
- "definition": {
- "val": "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Narrow iliac wings"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836688"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002869",
- "lbl": "Flared iliac wing",
- "meta": {
- "comments": [
- "See Figure 4A of PMID:28744080."
- ],
- "definition": {
- "val": "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.",
- "xrefs": [
- "HPO:probinson",
- "PMID:28744080"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Flared iliac wings"
- }
- ],
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- {
- "val": "UMLS:C1865841"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002870",
- "lbl": "Obstructive sleep apnea",
- "meta": {
- "definition": {
- "val": "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Obstructive sleep apnoea"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020181"
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- {
- "val": "SNOMEDCT_US:78275009"
- },
- {
- "val": "UMLS:C0520679"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002871",
- "lbl": "Central apnea",
- "meta": {
- "definition": {
- "val": "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Central apnoea"
- }
- ],
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- {
- "val": "MSH:D020182"
- },
- {
- "val": "UMLS:C0520680"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002872",
- "lbl": "Apneic episodes precipitated by illness, fatigue, stress",
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- "definition": {
- "val": "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Episodic apnea induced by febrile illness or stress"
- }
- ],
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- {
- "val": "UMLS:C3806462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002875",
- "lbl": "Exertional dyspnea",
- "meta": {
- "definition": {
- "val": "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.",
- "xrefs": [
- "PMID:29763022"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Exertional breathlessness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortness of breathing upon physical activity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Exertional dyspnoea"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:60845006"
- },
- {
- "val": "UMLS:C0231807"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002876",
- "lbl": "Episodic tachypnea",
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- "definition": {
- "val": "Episodes of very rapid breathing.",
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- },
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- {
- "pred": "hasExactSynonym",
- "val": "Hyperpnea, episodic"
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- "val": "UMLS:C3806218"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002877",
- "lbl": "Nocturnal hypoventilation",
- "meta": {
- "definition": {
- "val": "An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.",
- "xrefs": [
- "PMID:20308760"
- ]
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Hypoventilation during sleep"
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- "pred": "hasExactSynonym",
- "val": "Nocturnal hypopnea",
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- "ORCID:0000-0001-6908-9849"
- ]
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- "pred": "hasExactSynonym",
- "val": "Nocturnal slow breathing",
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- "pred": "hasExactSynonym",
- "val": "Nocturnal under breathing",
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- "val": "UMLS:C1843643"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002878",
- "lbl": "Respiratory failure",
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- "comments": [
- "Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg)."
- ],
- "definition": {
- "val": "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.",
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- "HPO:probinson"
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- "val": "MSH:D012131"
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- "val": "SNOMEDCT_US:409622000"
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- "val": "UMLS:C1145670"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002879",
- "lbl": "Anisospondyly",
- "meta": {
- "definition": {
- "val": "Abnormally increased variability of the size of the vertebral bodies.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1857101"
- }
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002880",
- "lbl": "obsolete Respiratory difficulties",
- "meta": {
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002882",
- "lbl": "Sudden episodic apnea",
- "meta": {
- "definition": {
- "val": "Recurrent bouts of sudden, severe apnea that may be life-threatening.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025671"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002883",
- "lbl": "Hyperventilation",
- "meta": {
- "definition": {
- "val": "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.",
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- "HPO:probinson"
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- "val": "Rapid breathing",
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- "ORCID:0000-0001-6908-9849"
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- "val": "MSH:D006985"
- },
- {
- "val": "SNOMEDCT_US:68978004"
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- {
- "val": "UMLS:C0020578"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002884",
- "lbl": "Hepatoblastoma",
- "meta": {
- "comments": [
- "Hepatoblastoma occurs nearly exclusively in infants and children."
- ],
- "definition": {
- "val": "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.",
- "xrefs": [
- "HPO:probinson",
- "eMedicine:986802"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D018197"
- },
- {
- "val": "NCIT:C3728"
- },
- {
- "val": "SNOMEDCT_US:109843000"
- },
- {
- "val": "SNOMEDCT_US:45024009"
- },
- {
- "val": "UMLS:C0206624"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002885",
- "lbl": "Medulloblastoma",
- "meta": {
- "comments": [
- "Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors."
- ],
- "definition": {
- "val": "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "MSH:D008527"
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- {
- "val": "NCIT:C3222"
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- "val": "SNOMEDCT_US:443333004"
- },
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- "val": "SNOMEDCT_US:83217000"
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- {
- "val": "UMLS:C0025149"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002886",
- "lbl": "Vagal paraganglioma",
- "meta": {
- "definition": {
- "val": "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.",
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- "HPO:probinson",
- "PMID:17268589"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Glomus vagale tumour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Vagal nerve tumours"
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- {
- "pred": "hasExactSynonym",
- "val": "Glomus vagale tumor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vagal nerve tumors"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Glomus vagale paraganglioma"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:253030004"
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- {
- "val": "UMLS:C0474819"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002888",
- "lbl": "Ependymoma",
- "meta": {
- "comments": [
- "According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign."
- ],
- "definition": {
- "val": "The presence of an ependymoma of the central nervous system.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004806"
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- {
- "val": "NCIT:C3017"
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- "val": "SNOMEDCT_US:443643007"
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- {
- "val": "SNOMEDCT_US:57706008"
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- {
- "val": "UMLS:C0014474"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002890",
- "lbl": "Thyroid carcinoma",
- "meta": {
- "definition": {
- "val": "The presence of a carcinoma of the thyroid gland.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D013964"
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- {
- "val": "NCIT:C2916"
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- "val": "UMLS:C0549473"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002891",
- "lbl": "Uterine leiomyosarcoma",
- "meta": {
- "comments": [
- "Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]."
- ],
- "definition": {
- "val": "The presence of a leiomyosarcoma of the uterus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "NCIT:C3158"
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- {
- "val": "SNOMEDCT_US:447389009"
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- {
- "val": "UMLS:C0280631"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002893",
- "lbl": "Pituitary adenoma",
- "meta": {
- "comments": [
- "In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. Pituitary adenoma can be described as microadenoma, macroadenoma, and giant tumors based on size. Microadenoma is a tumor less than 10 mm, while macroadenoma describes a tumor larger than 10mm. Giant pituitary tumors are bigger than 40 mm."
- ],
- "definition": {
- "val": "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).",
- "xrefs": [
- "DDD:spark",
- "PMID:32119338"
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- },
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- "val": "Noncancerous tumor in pituitary gland",
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- "ORCID:0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Pituitary gland adenoma"
- }
- ],
- "xrefs": [
- {
- "val": "ICD-O:M8272/0"
- },
- {
- "val": "MSH:D010911"
- },
- {
- "val": "NCIT:C2855"
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- {
- "val": "SNOMEDCT_US:128664001"
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- {
- "val": "SNOMEDCT_US:254956000"
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- "val": "UMLS:C0032000"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002894",
- "lbl": "Neoplasm of the pancreas",
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- "val": "UMLS:C1842408"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002895",
- "lbl": "Papillary thyroid carcinoma",
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- {
- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "NCIT:C2853"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002896",
- "lbl": "Neoplasm of the liver",
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- "pred": "hasExactSynonym",
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- "val": "MSH:D008113"
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- "val": "NCIT:C3262"
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- "val": "SNOMEDCT_US:126851005"
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- {
- "val": "SNOMEDCT_US:93870000"
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- {
- "val": "UMLS:C0023903"
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- {
- "val": "UMLS:C0345904"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002897",
- "lbl": "Parathyroid adenoma",
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- "val": "HP:0008257"
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- ],
- "definition": {
- "val": "A benign tumor of the parathyroid gland that can cause hyperparathyroidism.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Parathyroid adenomas"
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- ],
- "xrefs": [
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- "val": "ICD-10:D35.1"
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- "val": "MSH:D010282"
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- {
- "val": "NCIT:C2855"
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- "val": "SNOMEDCT_US:128474007"
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- "val": "UMLS:C0262587"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002898",
- "lbl": "Embryonal neoplasm",
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- "val": "Embryonal tumours"
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- "pred": "hasExactSynonym",
- "val": "Embryonal neoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Embryonal tumors"
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- ],
- "xrefs": [
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- "val": "MSH:D009373"
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- {
- "val": "UMLS:C0027654"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002900",
- "lbl": "Hypokalemia",
- "meta": {
- "definition": {
- "val": "An abnormally decreased potassium concentration in the blood.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Low blood potassium levels",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D007008"
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- "val": "SNOMEDCT_US:166690008"
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- "val": "SNOMEDCT_US:43339004"
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- "val": "UMLS:C0020621"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002901",
- "lbl": "Hypocalcemia",
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- "definition": {
- "val": "An abnormally decreased calcium concentration in the blood.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Low blood calcium levels",
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- "pred": "hasExactSynonym",
- "val": "Hypocalcaemia"
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- ],
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- "val": "MSH:D006996"
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- "val": "SNOMEDCT_US:5291005"
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- "val": "UMLS:C0020598"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002902",
- "lbl": "Hyponatremia",
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- "definition": {
- "val": "An abnormally decreased sodium concentration in the blood.",
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- "val": "MSH:D007010"
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- "val": "SNOMEDCT_US:89627008"
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- "val": "UMLS:C0020625"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002904",
- "lbl": "Hyperbilirubinemia",
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- "definition": {
- "val": "An increased amount of bilirubin in the blood.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "High blood bilirubin levels",
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- "ORCID:0000-0001-5208-3432"
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- }
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- "xrefs": [
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- "val": "SNOMEDCT_US:26165005"
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- "val": "UMLS:C0311468"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002905",
- "lbl": "Hyperphosphatemia",
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- "definition": {
- "val": "An abnormally increased phosphate concentration in the blood.",
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- "HPO:gcarletti"
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- },
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- "val": "High blood phosphate levels",
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- "ORCID:0000-0001-5208-3432"
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- "val": "MSH:D054559"
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- "val": "SNOMEDCT_US:20165001"
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- "val": "UMLS:C0085681"
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- "val": "UMLS:C0553706"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002907",
- "lbl": "Microscopic hematuria",
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- "definition": {
- "val": "Microscopic hematuria detected by dipstick or microscopic examination of the urine.",
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- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Small amount of blood in urine",
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Microhematuria"
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- {
- "pred": "hasExactSynonym",
- "val": "Occult hematuria"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:197940006"
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- "val": "UMLS:C0239937"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002908",
- "lbl": "Conjugated hyperbilirubinemia",
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- "val": "Direct hyperbilirubinemia"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:9326001"
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- "val": "UMLS:C0268307"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002909",
- "lbl": "Generalized aminoaciduria",
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- "val": "HP:0008317"
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- "comments": [
- "This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased."
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- "definition": {
- "val": "An increased concentration of all types of amino acid in the urine.",
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- "val": "UMLS:C1847868"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002910",
- "lbl": "Elevated hepatic transaminase",
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- "definition": {
- "val": "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.",
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- "pred": "hasExactSynonym",
- "val": "Abnormal liver function"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal liver function tests"
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- {
- "pred": "hasExactSynonym",
- "val": "Elevated liver enzymes"
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- "pred": "hasExactSynonym",
- "val": "Elevated serum transaminases"
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- "pred": "hasExactSynonym",
- "val": "Elevated transaminases"
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- "pred": "hasExactSynonym",
- "val": "Increased liver enzymes"
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- "val": "Increased transaminases"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Subclinical abnormal liver function tests"
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- "pred": "hasRelatedSynonym",
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- "val": "MSH:D008107"
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- "val": "SNOMEDCT_US:166643006"
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- "val": "UMLS:C0086565"
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- "val": "UMLS:C0151766"
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- "val": "UMLS:C0235996"
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- "val": "UMLS:C0438237"
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- "val": "UMLS:C0438717"
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- "val": "UMLS:C0877359"
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- "val": "UMLS:C1842003"
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- "val": "UMLS:C1848701"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002912",
- "lbl": "Methylmalonic acidemia",
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- "comments": [
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- "definition": {
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002913",
- "lbl": "Myoglobinuria",
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- "comments": [
- "Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction."
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- "definition": {
- "val": "Presence of myoglobin in the urine.",
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- "HPO:probinson"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0002914",
- "lbl": "Hyperchloriduria",
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- "definition": {
- "val": "An increased concentration of chloride in the urine.",
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- "val": "UMLS:C1846352"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002916",
- "lbl": "Abnormality of chromosome segregation",
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- "definition": {
- "val": "An abnormality of chromosome segregation.",
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- "xrefs": [
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- "val": "UMLS:C4025670"
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- "type": "CLASS"
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- "lbl": "Hypomagnesemia",
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- "val": "HP:0003284"
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- "definition": {
- "val": "An abnormally decreased magnesium concentration in the blood.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002918",
- "lbl": "Hypermagnesemia",
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- "definition": {
- "val": "An abnormally increased magnesium concentration in the blood.",
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- "val": "UMLS:C0151714"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002919",
- "lbl": "Ketonuria",
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- "comments": [
- "Acetone is the main component of the ketone bodies."
- ],
- "definition": {
- "val": "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11344564"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ketonaciduria"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Acetonuria"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ketone bodies in urine",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Ketoaciduria",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007662"
- },
- {
- "val": "SNOMEDCT_US:274783007"
- },
- {
- "val": "SNOMEDCT_US:36815008"
- },
- {
- "val": "UMLS:C0162275"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002920",
- "lbl": "Decreased circulating ACTH level",
- "meta": {
- "definition": {
- "val": "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025669"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002921",
- "lbl": "Abnormal cerebrospinal fluid morphology",
- "meta": {
- "comments": [
- "The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain)."
- ],
- "definition": {
- "val": "An abnormality of the cerebrospinal fluid (CSF).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Abnormal CSF findings"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Abnormality of the CSF"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cerebrospinal fluid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0151583"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002922",
- "lbl": "Increased CSF protein concentration",
- "meta": {
- "definition": {
- "val": "Increased concentration of protein in the cerebrospinal fluid.",
- "xrefs": [
- "KI:phemming",
- "PMID:29114301"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebrospinal fluid protein increased"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebrospinal fluid with increased protein"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated cerebrospinal fluid protein"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated csf protein"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperproteinorrhachia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased CSF protein"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased protein in csf"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spinal fluid protein elevated"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1806780"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002923",
- "lbl": "Rheumatoid factor positive",
- "meta": {
- "definition": {
- "val": "The presence in the serum of an autoantibody directed against the Fc portion of IgG.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:165839004"
- },
- {
- "val": "UMLS:C0151379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002924",
- "lbl": "obsolete Decreased circulating aldosterone level",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0004319"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002925",
- "lbl": "Elevated circulating thyroid-stimulating hormone concentration",
- "meta": {
- "definition": {
- "val": "Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.",
- "xrefs": [
- "DDD:spark"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "High TSH"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "TSH excess"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated thyroid stimulating hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated thyroid stimulating hormone levels"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased serum thyroid-stimulating hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased thyroid-stimulating hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased thyroid-stimulating hormone level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased thyrotropin level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thyroid-stimulating hormone excess"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:309080005"
- },
- {
- "val": "UMLS:C0586553"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002926",
- "lbl": "Abnormality of thyroid physiology",
- "meta": {
- "definition": {
- "val": "An abnormal functionality of the thyroid gland.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal thyroid function",
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- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0857576"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002927",
- "lbl": "Histidinuria",
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- "val": "HP:0010905"
- }
- ],
- "comments": [
- "Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of histidine in the urine.",
- "xrefs": [
- "HPO:probinson",
- "PMID:18901181",
- "PMID:20240447"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine histidine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated histidine in urine"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538321"
- },
- {
- "val": "SNOMEDCT_US:78311009"
- },
- {
- "val": "UMLS:C0268642"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002928",
- "lbl": "Decreased activity of the pyruvate dehydrogenase complex",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased activity of the PDH complex"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pyruvate dehydrogenase complex deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002929",
- "lbl": "Leydig cell insensitivity to gonadotropin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025668"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002930",
- "lbl": "Impaired sensitivity to thyroid hormone",
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- "basicPropertyValues": [
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- "val": "HP:0008215"
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- "val": "HP:0008243"
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- "val": "HP:0008262"
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- ],
- "comments": [
- "Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4."
- ],
- "definition": {
- "val": "Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.",
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- "DDD:spark",
- "PMID:24847459"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum levels of free thyroid hormone with nonsuppressed TSH"
- },
- {
- "pred": "hasExactSynonym",
- "val": "End-organ unresponsiveness to thyroid hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Resistance to thyroid hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thyroid hormone receptor defect"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thyroid hormone resistance"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018382"
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- {
- "val": "SNOMEDCT_US:111567006"
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- {
- "val": "SNOMEDCT_US:237559000"
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- {
- "val": "SNOMEDCT_US:237560005"
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- {
- "val": "SNOMEDCT_US:50375007"
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- {
- "val": "UMLS:C2940786"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002932",
- "lbl": "Aldehyde oxidase deficiency",
- "meta": {
- "comments": [
- "Aldehyde oxidase generates carboxylic acids from aldehydes."
- ],
- "definition": {
- "val": "A reduction in aldehyde oxidase level.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124161002"
- },
- {
- "val": "UMLS:C1291266"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002933",
- "lbl": "Ventral hernia",
- "meta": {
- "definition": {
- "val": "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.",
- "xrefs": [
- "HPO:probinson",
- "HPO:skoehler"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006555"
- },
- {
- "val": "SNOMEDCT_US:414396006"
- },
- {
- "val": "UMLS:C0019326"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002936",
- "lbl": "Distal sensory impairment",
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- "val": "HP:0006843"
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- "val": "HP:0006845"
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- "val": "HP:0006922"
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- "val": "HP:0006971"
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- "val": "HP:0006993"
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- "val": "HP:0007138"
- },
- {
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- "val": "HP:0007292"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007296"
- }
- ],
- "definition": {
- "val": "An abnormal reduction in sensation in the distal portions of the extremities.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased distal sensation"
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- {
- "pred": "hasExactSynonym",
- "val": "Distal sensation loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory impairment in lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory impairment of the lower extremities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory loss, upper and lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of distal sensation"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1847584"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002937",
- "lbl": "Hemivertebrae",
- "meta": {
- "comments": [
- "Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect."
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- "definition": {
- "val": "Absence of one half of the vertebral body.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing part of vertebrae",
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- "https://orcid.org/0000-0001-5208-3432",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hemivertebra"
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- {
- "pred": "hasExactSynonym",
- "val": "Hemi-vertebrae",
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- "https://orcid.org/0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:68359008"
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- {
- "val": "UMLS:C0265677"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002938",
- "lbl": "Lumbar hyperlordosis",
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- "val": "HP:0004596"
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- ],
- "definition": {
- "val": "An abnormal accentuation of the inward curvature of the spine in the lumbar region.",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Exaggerated lumbar lordosis"
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- {
- "pred": "hasExactSynonym",
- "val": "Increased lumbar lordosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lumbar lordosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prominent lumbar lordosis"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1184923"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002942",
- "lbl": "Thoracic kyphosis",
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- "definition": {
- "val": "Over curvature of the thoracic region, leading to a round back or if sever to a hump.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Accentuated thoracic kyphosis"
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- {
- "pred": "hasExactSynonym",
- "val": "Exaggerated thoracic kyphosis"
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- ],
- "xrefs": [
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- "val": "UMLS:C1184919"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002943",
- "lbl": "Thoracic scoliosis",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002944",
- "lbl": "Thoracolumbar scoliosis",
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- "val": "UMLS:C0749379"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002945",
- "lbl": "Intervertebral space narrowing",
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- "A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination."
- ],
- "definition": {
- "val": "Decreased height of the intervertebral disk.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Narrow intervertebral spaces"
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- ],
- "xrefs": [
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- "val": "UMLS:C0263870"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002946",
- "lbl": "Supernumerary vertebrae",
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- "val": "UMLS:C0265681"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002947",
- "lbl": "Cervical kyphosis",
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- "definition": {
- "val": "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.",
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- "HPO:probinson"
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- {
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- "ORCID:0000-0001-6908-9849"
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- "val": "UMLS:C0575170"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002948",
- "lbl": "Vertebral fusion",
- "meta": {
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- "val": "HP:0008471"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008485"
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- ],
- "definition": {
- "val": "A developmental defect leading to the union of two adjacent vertebrae.",
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- "HPO:probinson"
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- },
- "subsets": [
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- "synonyms": [
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- "val": "Spinal fusion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fused vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fusion of vertebral bodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral body fusion"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835763"
- },
- {
- "val": "UMLS:C1849073"
- },
- {
- "val": "UMLS:C3278509"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002949",
- "lbl": "Fused cervical vertebrae",
- "meta": {
- "definition": {
- "val": "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused neck",
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- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical vertebral fusion"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fusion of cervical vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical spine fusion",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3887527"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002951",
- "lbl": "Partial absence of cerebellar vermis",
- "meta": {
- "definition": {
- "val": "Congenital absence of a part of the vermis of cerebellum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025667"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002953",
- "lbl": "Vertebral compression fracture",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Vertebral compression fractures"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Compression fracture of a vertebral body",
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- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fractures of vertebral bodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral body compression"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral collapse"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral compression"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral compression or collapse"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:42942008"
- },
- {
- "val": "SNOMEDCT_US:84138006"
- },
- {
- "val": "UMLS:C0262431"
- },
- {
- "val": "UMLS:C0410550"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002955",
- "lbl": "Granulomatosis",
- "meta": {
- "comments": [
- "This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192)."
- ],
- "definition": {
- "val": "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:10908370",
- "PMID:937513"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:443138004"
- },
- {
- "val": "SNOMEDCT_US:44328006"
- },
- {
- "val": "UMLS:C0521173"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002958",
- "lbl": "Immune dysregulation",
- "meta": {
- "definition": {
- "val": "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.",
- "xrefs": [
- "PMID:26233425"
- ]
- },
- "synonyms": [
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Immune dysregulation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unregulated immune response",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844666"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002959",
- "lbl": "Impaired Ig class switch recombination",
- "meta": {
- "comments": [
- "The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE."
- ],
- "definition": {
- "val": "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11544001"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Impaired B-lymphocyte isotype switching"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002960",
- "lbl": "Autoimmunity",
- "meta": {
- "definition": {
- "val": "The occurrence of an immune reaction against the organism's own cells or tissues.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Autoimmune disease"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Autoimmune disorder"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Autoimmunity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Autoimmune condition"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001327"
- },
- {
- "val": "SNOMEDCT_US:85828009"
- },
- {
- "val": "UMLS:C0004364"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002961",
- "lbl": "Dysgammaglobulinemia",
- "meta": {
- "definition": {
- "val": "Selective deficiency of one or more, but not all, classes of immunoglobulins.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004406"
- },
- {
- "val": "SNOMEDCT_US:123782009"
- },
- {
- "val": "UMLS:C0013374"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002963",
- "lbl": "Abnormal delayed hypersensitivity skin test",
- "meta": {
- "comments": [
- "This is an immune function test measuring the presence of activated T cells that recognize a certain substance."
- ],
- "definition": {
- "val": "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1833172"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002965",
- "lbl": "Cutaneous anergy",
- "meta": {
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- "val": "HP:0005427"
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- ],
- "comments": [
- "Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected."
- ],
- "definition": {
- "val": "Inability to react to a delayed hypersensitivity skin test.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence of delayed hypersensitivity skin test"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lack of delayed skin hypersensitivity reaction"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855781"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002967",
- "lbl": "Cubitus valgus",
- "meta": {
- "definition": {
- "val": "Abnormal positioning in which the elbows are turned out.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outward turned elbows",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:54583007"
- },
- {
- "val": "UMLS:C0158465"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002970",
- "lbl": "Genu varum",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003052"
- }
- ],
- "definition": {
- "val": "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outward bow-leggedness",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Outward bowing at knees",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Genu vara"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Genua vara"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D056305"
- },
- {
- "val": "SNOMEDCT_US:299331007"
- },
- {
- "val": "UMLS:C0544755"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002971",
- "lbl": "Absent microvilli on the surface of peripheral blood lymphocytes",
- "meta": {
- "definition": {
- "val": "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.",
- "xrefs": [
- "PMID:15130947"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1833173"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002972",
- "lbl": "Reduced delayed hypersensitivity",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005434"
- }
- ],
- "definition": {
- "val": "Decreased ability to react to a delayed hypersensitivity skin test.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased reactivity to skin test antigens"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deficiency of delayed skin hypersensitivity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impaired delayed hypersensitivity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843386"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002973",
- "lbl": "Abnormal forearm morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the lower arm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the forearm"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025666"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002974",
- "lbl": "Radioulnar synostosis",
- "meta": {
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- "val": "HP:0003962"
- }
- ],
- "definition": {
- "val": "An abnormal osseous union (fusion) between the radius and the ulna.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused forearm bones"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10037798"
- },
- {
- "val": "MSH:C562408"
- },
- {
- "val": "SNOMEDCT_US:33313004"
- },
- {
- "val": "UMLS:C0158761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002977",
- "lbl": "Aplasia/Hypoplasia involving the central nervous system",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-31T05:13:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001323"
- }
- ],
- "definition": {
- "val": "Absence or underdevelopment of tissue in the central nervous system.",
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- ]
- },
- "synonyms": [
- {
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped central nervous system tissue",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025665"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002979",
- "lbl": "Bowing of the legs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006428"
- }
- ],
- "definition": {
- "val": "A bending or abnormal curvature affecting a long bone of the leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed legs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bow legs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bow-leggedness"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D056305"
- },
- {
- "val": "SNOMEDCT_US:299331007"
- },
- {
- "val": "UMLS:C0544755"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002980",
- "lbl": "Femoral bowing",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
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- ],
- "definition": {
- "val": "Bowing (abnormal curvature) of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed femur"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed femura",
- "xrefs": [
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed femurs",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002981",
- "lbl": "Abnormality of the calf",
- "meta": {
- "definition": {
- "val": "An abnormality of the calf, i.e. of the posterior part of the lower leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the calf"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021832"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002982",
- "lbl": "Tibial bowing",
- "meta": {
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- {
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- "val": "HP:0006363"
- }
- ],
- "comments": [
- "A developmental defect with posteromedial tibial angulation."
- ],
- "definition": {
- "val": "A bending or abnormal curvature of the tibia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
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- "val": "Bowed shankbone",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed shinbone",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed tibia"
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- {
- "pred": "hasExactSynonym",
- "val": "Bowing of the tibia"
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- ],
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- "val": "UMLS:C1837081"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002983",
- "lbl": "Micromelia",
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- "val": "HP:0005753"
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- ],
- "definition": {
- "val": "The presence of abnormally small extremities.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Smaller or shorter than typical limbs",
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- }
- ],
- "xrefs": [
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- "val": "MEDDRA:10027546"
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- "val": "SNOMEDCT_US:74370006"
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- {
- "val": "UMLS:C0025995"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002984",
- "lbl": "Hypoplasia of the radius",
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- "val": "HP:0004989"
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- "val": "HP:0005714"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006418"
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- ],
- "definition": {
- "val": "Underdevelopment of the radius.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "val": "Underdeveloped outer large forearm bone",
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- },
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- "pred": "hasExactSynonym",
- "val": "Hypoplastic radii"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic radius"
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- {
- "pred": "hasExactSynonym",
- "val": "Radial hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short radii"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short radius"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortening of radius"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Radial ray hypoplasia"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:205170001"
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- "val": "SNOMEDCT_US:93288001"
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- "val": "UMLS:C0685381"
- },
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- "val": "UMLS:C1840087"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002986",
- "lbl": "Radial bowing",
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- "definition": {
- "val": "A bending or abnormal curvature of the radius.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Bowing of outer large bone of the forearm",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed radii"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed radius"
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- {
- "pred": "hasExactSynonym",
- "val": "Bowing of radius bone of the forearm",
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- }
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- "xrefs": [
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- "val": "UMLS:C1859399"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002987",
- "lbl": "Elbow flexion contracture",
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- "val": "HP:0004984"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005654"
- }
- ],
- "definition": {
- "val": "An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Elbow flexion contractures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elbow flexion deformity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fixed flexion at the elbow joint"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:202271004"
- },
- {
- "val": "UMLS:C0409338"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002990",
- "lbl": "Fibular aplasia",
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- "definition": {
- "val": "Absence of the fibula.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent calf bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent fibulae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent-hypoplastic fibulae"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10054882"
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- "val": "UMLS:C1836186"
- }
- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002991",
- "lbl": "Abnormality of fibula morphology",
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- "definition": {
- "val": "An anomaly of the calf bone (fibula), one of the two bones of the calf.",
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- "HPO:probinson"
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- },
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- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "val": "Abnormality of the calf bone",
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- }
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- "val": "UMLS:C4025664"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002992",
- "lbl": "Abnormality of tibia morphology",
- "meta": {
- "definition": {
- "val": "Abnormality of the tibia (shinbone).",
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- "HPO:curators"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Abnormality of the shankbone",
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- },
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- "pred": "hasExactSynonym",
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- "val": "Abnormality of the shinbone",
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- "val": "UMLS:C4025663"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0002996",
- "lbl": "Limited elbow movement",
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased elbow mobility"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited elbow mobility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited elbow movement"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Restricted elbow motion"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849955"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002997",
- "lbl": "obsolete Abnormality of the ulna",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0002999",
- "lbl": "Patellar dislocation",
- "meta": {
- "definition": {
- "val": "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocated kneecap",
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- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Dislocated patellae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dislocation of patella"
- }
- ],
- "xrefs": [
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- "val": "MSH:D031222"
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- "val": "SNOMEDCT_US:263029007"
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- "val": "UMLS:C1135812"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003001",
- "lbl": "Glomus jugular tumor",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Glomus jugular tumour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Glomus jugulare tumour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Glomus jugulare tumours"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glomus jugulare tumor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glomus jugulare tumors"
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- ],
- "xrefs": [
- {
- "val": "MSH:D005925"
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- {
- "val": "SNOMEDCT_US:127030001"
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- "val": "SNOMEDCT_US:32037004"
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- "val": "UMLS:C0017671"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003002",
- "lbl": "Breast carcinoma",
- "meta": {
- "definition": {
- "val": "The presence of a carcinoma of the breast.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breast cancer"
- }
- ],
- "xrefs": [
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- "val": "MSH:D001943"
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- {
- "val": "NCIT:C2916"
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- {
- "val": "SNOMEDCT_US:254838004"
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- "val": "UMLS:C0678222"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003003",
- "lbl": "Colon cancer",
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- "val": "Colon cancer"
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- ],
- "xrefs": [
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- "val": "MSH:D003110"
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- "val": "SNOMEDCT_US:363406005"
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- "val": "UMLS:C0007102"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003005",
- "lbl": "Ganglioneuroma",
- "meta": {
- "comments": [
- "Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system."
- ],
- "definition": {
- "val": "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.",
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- "HPO:probinson"
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- "val": "SNOMEDCT_US:128919000"
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- "val": "SNOMEDCT_US:53801007"
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- "val": "UMLS:C0017075"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003006",
- "lbl": "Neuroblastoma",
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- "val": "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.",
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- "val": "Cancer of early nerve cells",
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- "https://orcid.org/0000-0002-6548-5200"
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- "val": "MSH:D009447"
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- "val": "NCIT:C3270"
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- "val": "SNOMEDCT_US:87364003"
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- "val": "UMLS:C0027819"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003009",
- "lbl": "Enhanced neurotoxicity of vincristine",
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- "val": "UMLS:C4025661"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003010",
- "lbl": "Prolonged bleeding time",
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- "comments": [
- "The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes."
- ],
- "definition": {
- "val": "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.",
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- "DDD:mumford"
- ]
- },
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- "val": "Prolonged bleeding time"
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- "pred": "hasExactSynonym",
- "val": "Increased bleeding time"
- }
- ],
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- "val": "UMLS:C0151529"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003011",
- "lbl": "Abnormality of the musculature",
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- "val": "HP:0040290"
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- ],
- "definition": {
- "val": "Abnormality originating in one or more muscles, i.e., of the set of muscles of body.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Muscular abnormality"
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- "val": "UMLS:C4021745"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003013",
- "lbl": "Bulging epiphyses",
- "meta": {
- "definition": {
- "val": "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- "ORCID:0000-0001-5208-3432"
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- "val": "UMLS:C1833329"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003015",
- "lbl": "Flared metaphysis",
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- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004994"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005015"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005095"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200002"
- }
- ],
- "comments": [
- "Figure 11 of PMID:12853662 shows metaphyseal flaring."
- ],
- "definition": {
- "val": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.",
- "xrefs": [
- "HPO:probinson",
- "PMID:12853662"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flared wide portion of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flared, widened metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal flaring"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal flaring of long bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal splaying"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyses flared"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Splayed metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "marked metaphyseal flaring of long bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850135"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003016",
- "lbl": "Metaphyseal widening",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005074"
- }
- ],
- "definition": {
- "val": "Abnormal widening of the metaphyseal regions of long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad wide portion of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened long bone metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849039"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003019",
- "lbl": "Abnormality of the wrist",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001224"
- }
- ],
- "definition": {
- "val": "Abnormality of the wrist, the structure connecting the hand and the forearm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of the wrists"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the wrist"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021744"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003020",
- "lbl": "Enlargement of the wrists",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of the wrists"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838663"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003021",
- "lbl": "Metaphyseal cupping",
- "meta": {
- "definition": {
- "val": "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1837082"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003022",
- "lbl": "Hypoplasia of the ulna",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002998"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005842"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006388"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006444"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the ulna.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped inner large forearm bone",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic ulna"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short ulna"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short ulnae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ulnar hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped ulna",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538069"
- },
- {
- "val": "UMLS:C1860614"
- },
- {
- "val": "UMLS:C1862132"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003023",
- "lbl": "Bowing of limbs due to multiple fractures",
- "meta": {
- "definition": {
- "val": "Curvature of the shafts of the long bones due to multiple fractures.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bowed limbs due to multiple fractures"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850178"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003025",
- "lbl": "Metaphyseal irregularity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003017"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004995"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005016"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005032"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005038"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005058"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005062"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005065"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005078"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005896"
- }
- ],
- "definition": {
- "val": "Irregularity of the normally smooth surface of the metaphyses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular wide portion of a long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Frayed, irregular metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Frayed, irregular, metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular metaphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal fraying"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal irregularities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838662"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003026",
- "lbl": "Short long bone",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000949"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004983"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004988"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005000"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005029"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005044"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005052"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005077"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005083"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005647"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005822"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006382"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006457"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006472"
- }
- ],
- "comments": [
- "Long bones are also known as tubular bones."
- ],
- "definition": {
- "val": "One or more abnormally short long bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long bone shortening"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short long bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short tubular bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "shortened long tubular bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854912"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003027",
- "lbl": "Mesomelia",
- "meta": {
- "comments": [
- "Shortening of the limbs where the predominant shortness is in the middle bones."
- ],
- "definition": {
- "val": "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionately short middle portion of limb",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mesomelic limb shortening"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mesomelic shortening of limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Symmetric mesomelic limb shortness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0549306"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003028",
- "lbl": "Abnormality of the ankles",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the ankles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025660"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003029",
- "lbl": "Enlargement of the ankles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of the ankles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838664"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003031",
- "lbl": "Ulnar bowing",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003983"
- }
- ],
- "comments": [
- "Ulnar bowing is usually in the convex posterior direction."
- ],
- "definition": {
- "val": "Bending of the diaphysis (shaft) of the ulna.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curving of inner forearm bone",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowed ulna"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Curved ulna"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865847"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003034",
- "lbl": "Diaphyseal sclerosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005611"
- }
- ],
- "definition": {
- "val": "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Craniodiaphyseal osteosclerosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diaphyseal osteosclerosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003966"
- },
- {
- "val": "SNOMEDCT_US:318761000119105"
- },
- {
- "val": "SNOMEDCT_US:34643004"
- },
- {
- "val": "UMLS:C0011989"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003037",
- "lbl": "Enlarged joints",
- "meta": {
- "definition": {
- "val": "Increase in size of one or more joints.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged joints"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Prominent joints"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859111"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003038",
- "lbl": "Fibular hypoplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002985"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005887"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006401"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the fibula.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short calf bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic fibula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short fibula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short fibulae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1832119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003040",
- "lbl": "Arthropathy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disease of the joints",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007592"
- },
- {
- "val": "SNOMEDCT_US:399269003"
- },
- {
- "val": "UMLS:C0022408"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003041",
- "lbl": "Humeroradial synostosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003936"
- }
- ],
- "definition": {
- "val": "An abnormal osseous union (fusion) between the radius and the humerus.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fusion of upper and lower arm bones",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Humeral radial synostosis"
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- "pred": "hasExactSynonym",
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- "val": "Increased urinary potassium"
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- {
- "pred": "hasExactSynonym",
- "val": "Hyperkaliuresis"
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- ],
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- "val": "UMLS:C1846351"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003083",
- "lbl": "Dislocated radial head",
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- "definition": {
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- "pred": "hasExactSynonym",
- "val": "Radial head dislocation"
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "val": "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).",
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- "HPO:curators"
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- "pred": "hasExactSynonym",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003085",
- "lbl": "Long fibula",
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- "val": "Disproportionately long fibulae.",
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- },
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- "val": "Long calf bone",
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- "val": "Disproportionately long fibula"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003086",
- "lbl": "Acromesomelia",
- "meta": {
- "definition": {
- "val": "Small hands and feet.",
- "xrefs": [
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- "PMID:22286749"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1864365"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003088",
- "lbl": "Premature osteoarthritis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature arthritis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature osteoarthritis"
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- ],
- "xrefs": [
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- "val": "UMLS:C1835121"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003089",
- "lbl": "Hamstring contractures",
- "meta": {
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:203074005"
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- "val": "UMLS:C0410266"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003090",
- "lbl": "Hypoplasia of the capital femoral epiphysis",
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- "val": "HP:0008792"
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- ],
- "definition": {
- "val": "Underdevelopment of the proximal epiphysis of the femur.",
- "xrefs": [
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "val": "Small capital femoral epiphyses"
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- {
- "pred": "hasExactSynonym",
- "val": "Small femoral capital epiphyses"
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- {
- "pred": "hasExactSynonym",
- "val": "Small proximal femoral epiphyses"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003091",
- "lbl": "Trophic limb changes",
- "meta": {
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- "val": "Trophic changes occurring in a limb.",
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- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0003093",
- "lbl": "Limited hip extension",
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- "comments": [
- "Reduced ability to straighten out the femur."
- ],
- "definition": {
- "val": "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.",
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- "val": "Restricted hip extension"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003095",
- "lbl": "Septic arthritis",
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- ],
- "xrefs": [
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- "val": "MSH:D001170"
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- "val": "SNOMEDCT_US:372939007"
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- "val": "SNOMEDCT_US:396234004"
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- "val": "UMLS:C0003869"
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- "val": "UMLS:C4280547"
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- },
- "type": "CLASS"
- },
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- "lbl": "Short femur",
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- },
- "subsets": [
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- "pred": "hasExactSynonym",
- "val": "Femoral hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the femora"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short femurs"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:93255008"
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- "val": "UMLS:C0345375"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003099",
- "lbl": "Fibular overgrowth",
- "meta": {
- "definition": {
- "val": "Relatively increased growth of the fibula compared to that of the tibia.",
- "xrefs": [
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- "PMID:17259417"
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- },
- "synonyms": [
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- "xrefs": [
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- },
- "type": "CLASS"
- },
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- "lbl": "Slender long bone",
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- ],
- "definition": {
- "val": "Reduced diameter of a long bone.",
- "xrefs": [
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- "synonyms": [
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- "val": "Gracile long bones"
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- "pred": "hasExactSynonym",
- "val": "Slender, gracile long tubular bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin, gracile long bones"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Thin gracile long bones"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003102",
- "lbl": "Increased carrying angle",
- "meta": {
- "comments": [
- "Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis."
- ],
- "definition": {
- "val": "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.",
- "xrefs": [
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- "PMID:18506557"
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- "xrefs": [
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003103",
- "lbl": "Abnormal cortical bone morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.",
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- },
- "synonyms": [
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cortical bone"
- }
- ],
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003105",
- "lbl": "Protuberances at ends of long bones",
- "meta": {
- "definition": {
- "val": "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.",
- "xrefs": [
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- },
- "synonyms": [
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- "val": "Protuberances at ends of long bones"
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- "xrefs": [
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- "val": "UMLS:C1851418"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003106",
- "lbl": "Subperiosteal bone resorption",
- "meta": {
- "definition": {
- "val": "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.",
- "xrefs": [
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Subperiosteal erosions"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1848541"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003107",
- "lbl": "Abnormal circulating cholesterol concentration",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
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- "val": "2008-03-17T01:02:00Z"
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- "val": "HP:0003464"
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- ],
- "definition": {
- "val": "Any deviation from the normal concentration of cholesterol in the blood circulation."
- },
- "synonyms": [
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of cholesterol metabolism"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal cholesterol homeostasis"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025656"
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- },
- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0003108",
- "lbl": "Hyperglycinuria",
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- "comments": [
- "Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of glycine in the urine.",
- "xrefs": [
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- "PMID:18901181",
- "PMID:20240447"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Glycinuria"
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- "xrefs": [
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- "val": "UMLS:C0341706"
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- "val": "UMLS:C0543541"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003109",
- "lbl": "Hyperphosphaturia",
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- "definition": {
- "val": "An increased excretion of phosphates in the urine.",
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- "synonyms": [
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- "val": "High urine phosphate levels",
- "xrefs": [
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- },
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- "lbl": "Abnormality of urine homeostasis",
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- },
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- "val": "Electrolyte disorders"
- },
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- "val": "Abnormality of ion homeostasis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Electrolyte disturbance"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:237840007"
- },
- {
- "val": "UMLS:C1704431"
- },
- {
- "val": "UMLS:C4025654"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003112",
- "lbl": "Abnormal circulating amino acid concentration",
- "meta": {
- "definition": {
- "val": "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of serum amino acid levels"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of serum amino acid level"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025653"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003113",
- "lbl": "Hypochloremia",
- "meta": {
- "definition": {
- "val": "An abnormally decreased chloride concentration in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood chloride levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:10399008"
- },
- {
- "val": "UMLS:C0085680"
- },
- {
- "val": "UMLS:C0595901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003114",
- "lbl": "obsolete Abnormal cardiological findings",
- "meta": {
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- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001626"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003115",
- "lbl": "Abnormal EKG",
- "meta": {
- "definition": {
- "val": "Abnormal rhythm of the heart."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "EKG abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal ECG"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal EKG"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal electrocardiogram"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:102594003"
- },
- {
- "val": "UMLS:C0522055"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003116",
- "lbl": "Abnormal echocardiogram",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001626"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003117",
- "lbl": "Abnormal circulating hormone concentration",
- "meta": {
- "definition": {
- "val": "An abnormal concentration of a hormone in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of circulating hormone level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal circulating hormone level"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025652"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003118",
- "lbl": "Increased circulating cortisol level",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000850"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001578"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004316"
- }
- ],
- "definition": {
- "val": "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.",
- "xrefs": [
- "DDD:spark"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased circulating cortisol level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cushing syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased cortisol production"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypercortisolism",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000308"
- },
- {
- "val": "SNOMEDCT_US:237735008"
- },
- {
- "val": "SNOMEDCT_US:275437005"
- },
- {
- "val": "SNOMEDCT_US:47270006"
- },
- {
- "val": "UMLS:C0001622"
- },
- {
- "val": "UMLS:C0342443"
- },
- {
- "val": "UMLS:C4025651"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003119",
- "lbl": "Abnormal circulating lipid concentration",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003611"
- }
- ],
- "comments": [
- "According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids."
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a lipid in the blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Dyslipidaemia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dyslipidemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D050171"
- },
- {
- "val": "SNOMEDCT_US:370992007"
- },
- {
- "val": "UMLS:C0242339"
- },
- {
- "val": "UMLS:C4025650"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003121",
- "lbl": "Limb joint contracture",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0005631"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005839"
- }
- ],
- "definition": {
- "val": "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limb contractures"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969879"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003124",
- "lbl": "Hypercholesterolemia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0008154"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008173"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008359"
- }
- ],
- "definition": {
- "val": "An increased concentration of cholesterol in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
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- "val": "High cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated serum cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated total cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased total cholesterol"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006937"
- },
- {
- "val": "SNOMEDCT_US:13644009"
- },
- {
- "val": "SNOMEDCT_US:166830008"
- },
- {
- "val": "UMLS:C0020443"
- },
- {
- "val": "UMLS:C0595929"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003125",
- "lbl": "Reduced factor VIII activity",
- "meta": {
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- "val": "HP:0008349"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008355"
- }
- ],
- "definition": {
- "val": "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Factor VIII deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006467"
- },
- {
- "val": "SNOMEDCT_US:234440005"
- },
- {
- "val": "UMLS:C3494187"
- },
- {
- "val": "UMLS:C4025649"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003126",
- "lbl": "Low-molecular-weight proteinuria",
- "meta": {
- "definition": {
- "val": "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).",
- "xrefs": [
- "PMID:95574"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tubular proteinuria"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003127",
- "lbl": "Hypocalciuria",
- "meta": {
- "definition": {
- "val": "An abnormally decreased calcium concentration in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low urine calcium levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:86353007"
- },
- {
- "val": "UMLS:C0020599"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003128",
- "lbl": "Lactic acidosis",
- "meta": {
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- "val": "HP:0003255"
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- "val": "HP:0005960"
- }
- ],
- "comments": [
- "Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably."
- ],
- "definition": {
- "val": "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased lactate in body",
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- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperlacticacidemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lactic acidemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lacticacidemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lacticacidosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000140"
- },
- {
- "val": "SNOMEDCT_US:190882007"
- },
- {
- "val": "SNOMEDCT_US:91273001"
- },
- {
- "val": "UMLS:C0001125"
- },
- {
- "val": "UMLS:C0347959"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003130",
- "lbl": "Abnormal peripheral myelination",
- "meta": {
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- "val": "HP:0003408"
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- ],
- "comments": [
- "This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011)."
- ],
- "definition": {
- "val": "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.",
- "xrefs": [
- "DDD:fmunitoni",
- "HPO:jbaets"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025648"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003131",
- "lbl": "Cystinuria",
- "meta": {
- "comments": [
- "Cystine is a sulfur-containing amino acid."
- ],
- "definition": {
- "val": "An increased concentration of cystine in the urine.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine cystine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D003555"
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- {
- "val": "SNOMEDCT_US:85020001"
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- {
- "val": "UMLS:C0010691"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003133",
- "lbl": "Abnormality of the spinocerebellar tracts",
- "meta": {
- "definition": {
- "val": "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025647"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003134",
- "lbl": "Abnormality of peripheral nerve conduction",
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- "val": "HP:0007186"
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- "comments": [
- "A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured."
- ],
- "definition": {
- "val": "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
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- "val": "Sensory and motor nerve conduction abnormalities"
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- {
- "pred": "hasRelatedSynonym",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003137",
- "lbl": "Prolinuria",
- "meta": {
- "comments": [
- "Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of proline in the urine.",
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- "HPO:probinson"
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- },
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- {
- "val": "SNOMEDCT_US:53124003"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003138",
- "lbl": "Increased blood urea nitrogen",
- "meta": {
- "definition": {
- "val": "An increased amount of nitrogen in the form of urea in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
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- "val": "Increased BUN"
- },
- {
- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003139",
- "lbl": "Panhypogammaglobulinemia",
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- "definition": {
- "val": "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.",
- "xrefs": [
- "PMID:23726535"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Panhypogammaglobulinaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Panypogammaglobulinemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1328587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003140",
- "lbl": "T-wave inversion in the right precordial leads",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025646"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003141",
- "lbl": "Increased LDL cholesterol concentration",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008343"
- }
- ],
- "definition": {
- "val": "An elevated concentration of low-density lipoprotein cholesterol in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Increased LDLc concentration"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased plasma LDL levels"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased LDL cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased circulating LDL level",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperbetalipoproteinemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased beta-lipoproteins"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased circulating low-density lipoprotein cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased circulating low-density lipoprotein levels"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006938"
- },
- {
- "val": "SNOMEDCT_US:190773008"
- },
- {
- "val": "SNOMEDCT_US:398036000"
- },
- {
- "val": "UMLS:C0020445"
- },
- {
- "val": "UMLS:C0549399"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003142",
- "lbl": "Excessive purine production",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025645"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003144",
- "lbl": "Increased serum serotonin",
- "meta": {
- "definition": {
- "val": "A increased concentration of serotonin in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased serum serotonin"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0877243"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003145",
- "lbl": "Decreased adenosylcobalamin",
- "meta": {
- "definition": {
- "val": "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased ADOCBL"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848556"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003146",
- "lbl": "Hypocholesterolemia",
- "meta": {
- "definition": {
- "val": "An decreased concentration of cholesterol in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased circulating cholesterol level",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:61336008"
- },
- {
- "val": "UMLS:C0151718"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003148",
- "lbl": "Elevated serum acid phosphatase",
- "meta": {
- "comments": [
- "Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acid phosphatase elevated"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated serum acid phosphatase"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839866"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003149",
- "lbl": "Hyperuricosuria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0012611"
- }
- ],
- "comments": [
- "Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism."
- ],
- "definition": {
- "val": "An abnormally high level of uric acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine uric acid level",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased urinary urate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0948643"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003150",
- "lbl": "Glutaric aciduria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003490"
- }
- ],
- "definition": {
- "val": "An increased concentration of glutaric acid in the urine.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Glutaricaciduria"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glutarate aciduria",
- "xrefs": [
- "https://orcid.org/0000-0001-9969-8610"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased glutarate level in urine",
- "xrefs": [
- "CHEBI:24329",
- "https://orcid.org/0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:28987007"
- },
- {
- "val": "UMLS:C0268594"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003152",
- "lbl": "obsolete Increased serum 1,25-dihydroxyvitamin D3",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0031415"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003153",
- "lbl": "Cystathioninuria",
- "meta": {
- "comments": [
- "Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine."
- ],
- "definition": {
- "val": "An elevated urinary concentration of cystathionine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine cystathionine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:13003007"
- },
- {
- "val": "UMLS:C0220993"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003154",
- "lbl": "Increased circulating ACTH level",
- "meta": {
- "definition": {
- "val": "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased circulating ACTH level"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High blood corticotropin levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased plasma ACTH"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021740"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003155",
- "lbl": "Elevated circulating alkaline phosphatase concentration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002911"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003636"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008296"
- }
- ],
- "definition": {
- "val": "Abnormally increased serum levels of alkaline phosphatase activity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:29083622"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Elevated ALP"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated alkaline phosphatase"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Greatly elevated alkaline phosphatase"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High serum alkaline phosphatase"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased alkaline phosphatase"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased serum alkaline phosphatase"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperphosphatasemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperphosphatasia",
- "xrefs": [
- "HPO:probinson"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0750857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003158",
- "lbl": "Hyposthenuria",
- "meta": {
- "comments": [
- "Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus."
- ],
- "definition": {
- "val": "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Reduced urinary osmolality"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:76023003"
- },
- {
- "val": "UMLS:C0232831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003159",
- "lbl": "Hyperoxaluria",
- "meta": {
- "definition": {
- "val": "Increased excretion of oxalates in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine oxalate levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased level of oxalate in urine",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-9969-8610",
- "PMID:11135054"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006959"
- },
- {
- "val": "SNOMEDCT_US:367621000119107"
- },
- {
- "val": "UMLS:C0020500"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003160",
- "lbl": "Abnormal isoelectric focusing of serum transferrin",
- "meta": {
- "comments": [
- "Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin."
- ],
- "definition": {
- "val": "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.",
- "xrefs": [
- "HPO:probinson",
- "PMID:22516080"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal isoelectric focusing of transferrin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal transferrin isoelectric focusing"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2749688"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003161",
- "lbl": "4-Hydroxyphenylpyruvic aciduria",
- "meta": {
- "definition": {
- "val": "Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hydroxyphenylpyruvic aciduria"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003162",
- "lbl": "Fasting hypoglycemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood sugar when fasting",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007003"
- },
- {
- "val": "SNOMEDCT_US:6974005"
- },
- {
- "val": "UMLS:C0271708"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003163",
- "lbl": "Elevated urinary delta-aminolevulinic acid",
- "meta": {
- "comments": [
- "Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis."
- ],
- "definition": {
- "val": "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated urinary delta-aminolevulinic acid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848702"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003164",
- "lbl": "Hypothalamic gonadotropin-releasing hormone deficiency",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypothalamic GNRH deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025644"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003165",
- "lbl": "Elevated circulating parathyroid hormone level",
- "meta": {
- "definition": {
- "val": "An abnormal increased concentration of parathyroid hormone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated circulating PTH level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum parathyroid hormone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum parathyroid hormone level"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum pth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased serum parathyroid hormone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0857973"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003166",
- "lbl": "Increased urinary taurine",
- "meta": {
- "definition": {
- "val": "Increased concentration of taurine in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased urinary taurine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806447"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003167",
- "lbl": "Carnosinuria",
- "meta": {
- "comments": [
- "Carnosine is the N-(beta-alanyl) derivative of L-histidine."
- ],
- "definition": {
- "val": "An increased concentration of carnosine in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine carnosine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:410051001"
- },
- {
- "val": "UMLS:C3495558"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003168",
- "lbl": "Dibasicaminoaciduria",
- "meta": {
- "definition": {
- "val": "An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His)."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025643"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003170",
- "lbl": "Abnormal acetabulum morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the hipbone socket",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the acetabulum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Acetabular abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021739"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003172",
- "lbl": "Abnormality of the pubic bone",
- "meta": {
- "definition": {
- "val": "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pubic bone"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pubic bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pubis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003173",
- "lbl": "Hypoplastic pubic bone",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic pubic bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic pubis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865030"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003174",
- "lbl": "Abnormality of the ischium",
- "meta": {
- "comments": [
- "The ischium, together with the ilium and the pubis, forms the hip bone (os coxae)."
- ],
- "definition": {
- "val": "An anomaly of the ischium, which forms the lower and back part of the hip bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the ischial bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the ischium"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:93008005"
- },
- {
- "val": "UMLS:C0685661"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003175",
- "lbl": "Hypoplastic ischia",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the ischium, which forms the lower and back part of the hip bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic ischial bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic ischii"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic ischium"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859447"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003177",
- "lbl": "Squared iliac bones",
- "meta": {
- "definition": {
- "val": "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Square iliac bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Squaring of iliac bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1838186"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003179",
- "lbl": "Protrusio acetabuli",
- "meta": {
- "comments": [
- "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head."
- ],
- "definition": {
- "val": "Intrapelvic bulging of the medial acetabular wall.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally indented hip sockets"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Protrusio acetabulae"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:59606006"
- },
- {
- "val": "UMLS:C0409495"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003180",
- "lbl": "Flat acetabular roof",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003171"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008832"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008834"
- }
- ],
- "definition": {
- "val": "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Acetabular angle flat"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat acetabular roofs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flattened acetabular roof"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal acetabulae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal acetabular roof"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Horizontal acetabular roofs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837485"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003182",
- "lbl": "Shallow acetabular fossae",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Shallow acetabula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shallow acetabulae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shallow acetabular fossa"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shallow acetabulum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854910"
- },
- {
- "val": "UMLS:C1860796"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003183",
- "lbl": "Wide pubic symphysis",
- "meta": {
- "definition": {
- "val": "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Wide symphysis of pubis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857190"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003184",
- "lbl": "Decreased hip abduction",
- "meta": {
- "definition": {
- "val": "Reduced ability to move the femur outward to the side.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Limited hip abduction"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836589"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003185",
- "lbl": "Short greater sciatic notch",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008815"
- }
- ],
- "definition": {
- "val": "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Short sacroiliac notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortened sacroiliac notches"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small sacroiliac notch"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866689"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003186",
- "lbl": "Inverted nipples",
- "meta": {
- "definition": {
- "val": "The presence of nipples that instead of pointing outward are retracted inwards.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inverted nipples"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Invaginated nipples",
- "xrefs": [
- "HPO:curators"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:82231009"
- },
- {
- "val": "UMLS:C0269269"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003187",
- "lbl": "Breast hypoplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000784"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the breast.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped breasts"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:8915006"
- },
- {
- "val": "UMLS:C0266013"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003189",
- "lbl": "Long nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005283"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200142"
- }
- ],
- "definition": {
- "val": "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elongated nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased height of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased length of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nasal height",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased nasal length",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal elongation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003191",
- "lbl": "Cleft ala nasi",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004412"
- }
- ],
- "comments": [
- "The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity."
- ],
- "definition": {
- "val": "The presence of a notch in the margin of the ala nasi.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cleft nostril",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ala nasi, cleft"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Alar clefts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Notched nasal alae"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nostril coloboma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cleft nasal alae",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003193",
- "lbl": "Allergic rhinitis",
- "meta": {
- "definition": {
- "val": "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.",
- "xrefs": [
- "PMID:11449200"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hay fever"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hayfever"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nasal allergies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D065631"
- },
- {
- "val": "SNOMEDCT_US:61582004"
- },
- {
- "val": "UMLS:C0847614"
- },
- {
- "val": "UMLS:C2607914"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003194",
- "lbl": "Short nasal bridge",
- "meta": {
- "definition": {
- "val": "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854689"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003196",
- "lbl": "Short nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000440"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000449"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000450"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003192"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003195"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005270"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200092"
- }
- ],
- "comments": [
- "Note: a small nose has both decreased height and a decreased width. These should be coded separately."
- ],
- "definition": {
- "val": "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short nose"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nose"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortened nose",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic nose"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249310005"
- },
- {
- "val": "UMLS:C0426414"
- },
- {
- "val": "UMLS:C1854114"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003198",
- "lbl": "Myopathy",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0003569"
- },
- {
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- "val": "HP:0003705"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003742"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003802"
- }
- ],
- "comments": [
- "The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy."
- ],
- "definition": {
- "val": "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle tissue disease",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myopathic changes"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009135"
- },
- {
- "val": "SNOMEDCT_US:129565002"
- },
- {
- "val": "UMLS:C0026848"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003199",
- "lbl": "Decreased muscle mass",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003732"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased muscle mass"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837108"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003200",
- "lbl": "Ragged-red muscle fibers",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009076"
- }
- ],
- "comments": [
- "This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH)."
- ],
- "definition": {
- "val": "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.",
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- "HPO:probinson",
- "PMID:12075011",
- "PMID:16537564"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Ragged red muscle fibres"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Ragged-red fibres"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Ragged-red muscle fibres"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mitochondrial proliferation in muscle tissue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ragged red muscle fibers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ragged-red fibers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3275417"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003201",
- "lbl": "Rhabdomyolysis",
- "meta": {
- "definition": {
- "val": "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breakdown of skeletal muscle",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012206"
- },
- {
- "val": "SNOMEDCT_US:240131006"
- },
- {
- "val": "SNOMEDCT_US:89010004"
- },
- {
- "val": "UMLS:C0035410"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003202",
- "lbl": "Skeletal muscle atrophy",
- "meta": {
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- "val": "HP:0003545"
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- "val": "HP:0007356"
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- "val": "HP:0100868"
- }
- ],
- "definition": {
- "val": "The presence of skeletal muscular atrophy (which is also known as amyotrophy).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle wasting"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle degeneration",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Amyotrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Amyotrophy involving the extremities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle atrophy, neurogenic"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle hypotrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscular atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurogenic muscle atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurogenic muscle atrophy, especially in the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neurogenic muscular atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009133"
- },
- {
- "val": "SNOMEDCT_US:74035001"
- },
- {
- "val": "UMLS:C0234958"
- },
- {
- "val": "UMLS:C0270948"
- },
- {
- "val": "UMLS:C0541794"
- },
- {
- "val": "UMLS:C1843479"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003203",
- "lbl": "Impaired oxidative burst",
- "meta": {
- "comments": [
- "The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease."
- ],
- "definition": {
- "val": "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Negative NBT reduction test"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Negative nitroblue tetrazolium reduction test"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4280805"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003204",
- "lbl": "Intracellular accumulation of autofluorescent lipopigment storage material",
- "meta": {
- "comments": [
- "Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation."
- ],
- "definition": {
- "val": "The intracellular accumulation of autofluorescent storage material.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16455164"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025642"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003205",
- "lbl": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material",
- "meta": {
- "definition": {
- "val": "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Curvilinear profiles ultrastructurally"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Curvilinear profiles ultrastructurally in cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Intracellular curvilinear profiles on ultrastructural analysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836852"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003206",
- "lbl": "Decreased activity of NADPH oxidase",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1844394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003207",
- "lbl": "Arterial calcification",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-26T04:05:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0012455"
- }
- ],
- "comments": [
- "Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861)."
- ],
- "definition": {
- "val": "Pathological deposition of calcium salts in one or more arteries.",
- "xrefs": [
- "HPO:probinson",
- "PMID:18519861"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1168153"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003208",
- "lbl": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material",
- "meta": {
- "definition": {
- "val": "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fingerprint profiles ultrastructurally"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fingerprint profiles ultrastructurally in cells"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836851"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003209",
- "lbl": "Decreased pyruvate carboxylase activity",
- "meta": {
- "comments": [
- "Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle."
- ],
- "definition": {
- "val": "A decreased rate of pyruvate carboxylase activity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025641"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003210",
- "lbl": "Decreased methylmalonyl-CoA mutase activity",
- "meta": {
- "comments": [
- "The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids."
- ],
- "definition": {
- "val": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased methylmalonyl CoA mutase activity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848579"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003212",
- "lbl": "Increased circulating IgE level",
- "meta": {
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- "val": "HP:0005382"
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- "val": "HP:0005418"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005433"
- }
- ],
- "definition": {
- "val": "An abnormally increased overall level of immunoglobulin E in blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated immunoglobulin E"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum IgE"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High immunoglobulin E"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0236175"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003213",
- "lbl": "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025640"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003214",
- "lbl": "Prolonged G2 phase of cell cycle",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C4025639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003215",
- "lbl": "Dicarboxylic aciduria",
- "meta": {
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- "comments": [
- "A dicarboxylic acid is an oxoacid containing two carboxy groups. Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine."
- ],
- "definition": {
- "val": "An increased concentration of dicarboxylic acid in the urine.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated urinary dicarboxylic acid level"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1856432"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003216",
- "lbl": "Generalized amyloid deposition",
- "meta": {
- "comments": [
- "According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease."
- ],
- "definition": {
- "val": "A diffuse form of amyloidosis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised amyloid deposition"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862968"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003217",
- "lbl": "Hyperglutaminemia",
- "meta": {
- "comments": [
- "Normal glutamine blood levels are around 550-600 micromole per liter."
- ],
- "definition": {
- "val": "An increased concentration of glutamine in the blood.",
- "xrefs": [
- "HPO:gcarletti",
- "PMID:4696900"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High plasma glutamine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839533"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003218",
- "lbl": "Oroticaciduria",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000810"
- },
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- "val": "HP:0010928"
- }
- ],
- "comments": [
- "Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis."
- ],
- "definition": {
- "val": "An increased concentration of orotic acid in the urine.",
- "xrefs": [
- "HPO:gcarlotti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine orotic acid levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased urinary orotic acid concentration"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Orotic aciduria",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124277009"
- },
- {
- "val": "SNOMEDCT_US:47641009"
- },
- {
- "val": "UMLS:C0268128"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003219",
- "lbl": "Ethylmalonic aciduria",
- "meta": {
- "comments": [
- "Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group."
- ],
- "definition": {
- "val": "An increased concentration of ethylmalonic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1865353"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003220",
- "lbl": "Abnormality of chromosome stability",
- "meta": {
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- "val": "HP:0002915"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008307"
- }
- ],
- "definition": {
- "val": "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D019457"
- },
- {
- "val": "UMLS:C0376628"
- },
- {
- "val": "UMLS:C1859424"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003221",
- "lbl": "Chromosomal breakage induced by crosslinking agents",
- "meta": {
- "comments": [
- "Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia."
- ],
- "definition": {
- "val": "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Chromosomal breakage induced by diepoxybutane"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chromosomal breakage induced by mitomycin C"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021737"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003223",
- "lbl": "Decreased methylcobalamin",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008287"
- }
- ],
- "definition": {
- "val": "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Methylcobalamin deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021736"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003224",
- "lbl": "Increased cellular sensitivity to UV light",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1857707"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003225",
- "lbl": "Reduced coagulation factor V activity",
- "meta": {
- "comments": [
- "Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex."
- ],
- "definition": {
- "val": "Decreased activity of coagulation factor V.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Reduced factor V activity"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Factor V deficiency"
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- "val": "MSH:D005166"
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- {
- "val": "SNOMEDCT_US:4320005"
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- {
- "val": "SNOMEDCT_US:88776002"
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- {
- "val": "UMLS:C0015499"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003226",
- "lbl": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003228",
- "lbl": "Hypernatremia",
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- "val": "An abnormally increased sodium concentration in the blood.",
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- {
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- "ORCID:0000-0001-5208-3432"
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- "val": "MSH:D006955"
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- "val": "SNOMEDCT_US:286926003"
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- {
- "val": "SNOMEDCT_US:39355002"
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- {
- "val": "UMLS:C0020488"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003231",
- "lbl": "Hypertyrosinemia",
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- "comments": [
- "Defect in fumarylacetoacetase."
- ],
- "definition": {
- "val": "An increased concentration of tyrosine in the blood.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
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- "val": "Increased tyrosine in blood",
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- {
- "pred": "hasExactSynonym",
- "val": "Tyrosinemia"
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- ],
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- "val": "SNOMEDCT_US:56595005"
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- "val": "UMLS:C1879362"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003232",
- "lbl": "Mitochondrial malic enzyme reduced",
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- "HPO:skoehler"
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- {
- "val": "UMLS:C1856697"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003233",
- "lbl": "Decreased HDL cholesterol concentration",
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- },
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- "val": "Decreased circulating high-density lipoprotein cholesterol"
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- "val": "Low HDL-cholesterol"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased circulating high-density lipoprotein levels"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoalphalipoproteinemia"
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- "val": "MSH:D052456"
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- "val": "SNOMEDCT_US:190785000"
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- "val": "UMLS:C0151691"
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- "val": "UMLS:C0473527"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003234",
- "lbl": "Decreased plasma carnitine",
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- "Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria."
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- "val": "SNOMEDCT_US:421784001"
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- "val": "UMLS:C1142132"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003235",
- "lbl": "Hypermethioninemia",
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- "Elevated blood methionine levels in the range of 500-2000 micromolar."
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- "HPO:gcarletti"
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Methioninemia"
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- "val": "MSH:C564683"
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- "val": "SNOMEDCT_US:124283007"
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- "val": "SNOMEDCT_US:43123004"
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- "val": "SNOMEDCT_US:57835009"
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- "val": "UMLS:C0268621"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003236",
- "lbl": "Elevated circulating creatine kinase concentration",
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- "val": "UMLS:C0241005"
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- "id": "http://purl.obolibrary.org/obo/HP_0003237",
- "lbl": "Increased circulating IgG level",
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- "val": "An abnormally increased level of immunoglobulin G in blood.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Increased total IgG in blood"
- }
- ],
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- "val": "UMLS:C1858977"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003238",
- "lbl": "Hyperpepsinogenemia I",
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- "val": "UMLS:C4025638"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003239",
- "lbl": "Phosphoethanolaminuria",
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- "definition": {
- "val": "An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.",
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- },
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- "pred": "hasExactSynonym",
- "val": "Increased level of O-phosphoethanolamine in urine"
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- "pred": "hasExactSynonym",
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- ],
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- "val": "MSH:C562646"
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- "val": "UMLS:C0268412"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003240",
- "lbl": "Increased phosphoribosylpyrophosphate synthetase level",
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- "definition": {
- "val": "Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.",
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- "PMID:4200723"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C4025637"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003241",
- "lbl": "External genital hypoplasia",
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- "comments": [
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypogenitalism"
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- "pred": "hasExactSynonym",
- "val": "Small genitalia"
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- "val": "UMLS:C1855333"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003244",
- "lbl": "Penile hypospadias",
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- "definition": {
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- },
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- "val": "SNOMEDCT_US:204888000"
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- "val": "UMLS:C1691215"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003246",
- "lbl": "Prominent scrotal raphe",
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- "definition": {
- "val": "Increased size of the ridge of tissue that extends along the midline of the scrotum.",
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- },
- "synonyms": [
- {
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- ]
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003249",
- "lbl": "Genital ulcers",
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- "type": "CLASS"
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- "val": "Increased creatinine"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased serum creatinine"
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- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum creatinine"
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- ],
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- "val": "SNOMEDCT_US:166717003"
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- {
- "val": "UMLS:C0700225"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003260",
- "lbl": "Hydroxyprolinemia",
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- "Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter."
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- "definition": {
- "val": "An increased concentration of hydroxyproline in the blood.",
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- "val": "MSH:C562669"
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- "val": "SNOMEDCT_US:25739007"
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- {
- "val": "UMLS:C0268531"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003261",
- "lbl": "Increased circulating IgA level",
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- "definition": {
- "val": "An abnormally increased level of immunoglobulin A in blood.",
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "IgA hypergammaglobulinemia"
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- "val": "UMLS:C0239984"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003262",
- "lbl": "Smooth muscle antibody positivity",
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- "Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis."
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- "pred": "hasExactSynonym",
- "val": "Smooth muscle antibody positive"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:310290006"
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- {
- "val": "UMLS:C0241185"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003264",
- "lbl": "Deficiency of N-acetylglucosamine-1-phosphotransferase",
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- "comments": [
- "N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome."
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- "val": "MSH:D009081"
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- "val": "SNOMEDCT_US:70199000"
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- "val": "UMLS:C0020725"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003265",
- "lbl": "Neonatal hyperbilirubinemia",
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- "definition": {
- "val": "A type of hyperbilirubinemia with neonatal onset.",
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- "pred": "hasExactSynonym",
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- "val": "MSH:D051556"
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- "val": "UMLS:C0857007"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003267",
- "lbl": "Reduced orotidine 5-prime phosphate decarboxylase level",
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- "The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis."
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- "definition": {
- "val": "An abnormal decrease in orotidine 5'-phosphate decarboxylase level.",
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- "val": "UMLS:C4025636"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003268",
- "lbl": "Argininuria",
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- "comments": [
- "Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours."
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- "definition": {
- "val": "A increased concentration of arginine in the urine.",
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- "PMID:18901181",
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- "val": "High urine arginine levels",
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- "val": "UMLS:C4025635"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003269",
- "lbl": "Sudanophilic leukodystrophy",
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- "val": "MSH:D020371"
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- "val": "SNOMEDCT_US:64855000"
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- "val": "UMLS:C0205711"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003270",
- "lbl": "Abdominal distention",
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- "val": "HP:0003364"
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- "comments": [
- "Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction."
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- "val": "Abdominal swelling"
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- "val": "Belly bloating"
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- "val": "Bloating"
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- "pred": "hasExactSynonym",
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- "val": "SNOMEDCT_US:60728008"
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- "id": "http://purl.obolibrary.org/obo/HP_0003271",
- "lbl": "Visceromegaly",
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- "Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas."
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- "val": "Abnormality of the hips"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003273",
- "lbl": "Hip contracture",
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- "id": "http://purl.obolibrary.org/obo/HP_0003274",
- "lbl": "Hypoplastic acetabulae",
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- "lbl": "Narrow pelvis bone",
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- "lbl": "Pelvic bone exostoses",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003277",
- "lbl": "Constricted iliac wing",
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- "lbl": "Square pelvis bone",
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- "type": "CLASS"
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- "lbl": "Abnormality of mitochondrial metabolism",
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- "type": "CLASS"
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- "definition": {
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- "Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of threonine in the urine.",
- "xrefs": [
- "HPO:probinson",
- "PMID:18901181",
- "PMID:20240447"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine threonine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673931"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003297",
- "lbl": "Hyperlysinuria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002158"
- }
- ],
- "comments": [
- "Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of lysine in the urine.",
- "xrefs": [
- "HPO:probinson",
- "PMID:18901181",
- "PMID:20240447"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine lysine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lysinuria"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003298",
- "lbl": "Spina bifida occulta",
- "meta": {
- "comments": [
- "May be asymptomatic."
- ],
- "definition": {
- "val": "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:D016136"
- },
- {
- "val": "SNOMEDCT_US:76916001"
- },
- {
- "val": "UMLS:C0080174"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003300",
- "lbl": "Ovoid vertebral bodies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004559"
- }
- ],
- "definition": {
- "val": "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Oval vertebral bodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ovoid vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ovoid-shaped vertebral bodies"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Bullet vertebral body"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855665"
- },
- {
- "val": "UMLS:C4020844"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003301",
- "lbl": "Irregular vertebral endplates",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003420"
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- "val": "HP:0004583"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004628"
- }
- ],
- "definition": {
- "val": "An irregular surface of the vertebral end plates, which are normally relatively smooth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular end plates"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular endplates"
- },
- {
- "pred": "hasExactSynonym",
- "val": "end-plate irregularities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "endplate irregularities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "endplate irregularity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "irregular vertebral plates"
- },
- {
- "pred": "hasExactSynonym",
- "val": "vertebral endplate irregularity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842153"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003302",
- "lbl": "Spondylolisthesis",
- "meta": {
- "definition": {
- "val": "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20411054"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Displacement of one backbone compared to another",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slipped backbone",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spondylolithesis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013168"
- },
- {
- "val": "SNOMEDCT_US:274152003"
- },
- {
- "val": "UMLS:C0038016"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003304",
- "lbl": "Spondylolysis",
- "meta": {
- "comments": [
- "The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis."
- ],
- "definition": {
- "val": "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20440613"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "MSH:D013169"
- },
- {
- "val": "SNOMEDCT_US:240221008"
- },
- {
- "val": "UMLS:C0038018"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003305",
- "lbl": "Block vertebrae",
- "meta": {
- "definition": {
- "val": "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1844753"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003306",
- "lbl": "Spinal rigidity",
- "meta": {
- "definition": {
- "val": "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11601420",
- "PMID:2246660"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced spine movement",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rigid spine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858025"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003307",
- "lbl": "Hyperlordosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002939"
- }
- ],
- "definition": {
- "val": "Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent swayback",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lordosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008141"
- },
- {
- "val": "SNOMEDCT_US:249710008"
- },
- {
- "val": "SNOMEDCT_US:61960001"
- },
- {
- "val": "UMLS:C0024003"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003308",
- "lbl": "Cervical subluxation",
- "meta": {
- "definition": {
- "val": "A partial dislocation of one or more intervertebral joints in the cervical vertebral column.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1846798"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003309",
- "lbl": "Ovoid thoracolumbar vertebrae",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ovoid thoracic and lumbar vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868556"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003310",
- "lbl": "Abnormality of the odontoid process",
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- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004600"
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- ],
- "comments": [
- "The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates."
- ],
- "definition": {
- "val": "Abnormality of the dens of the axis, which is also known as the odontoid process.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal odontoid peg"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal odontoid process"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864794"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003311",
- "lbl": "Hypoplasia of the odontoid process",
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- "basicPropertyValues": [
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- "val": "HP:0003299"
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- "val": "HP:0004613"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008481"
- }
- ],
- "definition": {
- "val": "Developmental hypoplasia of the dens of the axis.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic odontoid process"
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- {
- "pred": "hasExactSynonym",
- "val": "Odontoid hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Small odontoid process"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small odontoid peg",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846439"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003312",
- "lbl": "Abnormal form of the vertebral bodies",
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- "definition": {
- "val": "Abnormal morphology of vertebral body."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormally shaped vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839326"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003316",
- "lbl": "Butterfly vertebrae",
- "meta": {
- "definition": {
- "val": "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.",
- "xrefs": [
- "HPO:probinson",
- "PMID:31448202",
- "PMID:3693103"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Butterfly vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior rachischisis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sagittal clefting of vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844752"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003318",
- "lbl": "Cervical spine hypermobility",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cervical spine joint hypermobility"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298186005"
- },
- {
- "val": "UMLS:C0574967"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003319",
- "lbl": "Abnormality of the cervical spine",
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- "val": "HP:0004587"
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- ],
- "definition": {
- "val": "Any abnormality of the cervical vertebral column.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal cervical spine"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical spine abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cervical vertebral abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Disorder of cervical vertebra"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cervical vertebra",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cervical vertebrae",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cervical vertebral anomalies",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1852464"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003320",
- "lbl": "C1-C2 subluxation",
- "meta": {
- "comments": [
- "A subluxation affecting the intervertebral joint between the first and second cervical vertebrae."
- ],
- "definition": {
- "val": "A partial dislocation of the atlantoaxial joints.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1848446"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003321",
- "lbl": "Biconcave flattened vertebrae",
- "meta": {
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- "val": "HP:0005782"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1833753"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003323",
- "lbl": "Progressive muscle weakness",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0009032"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, progressive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Progressive muscular weakness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240421"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003324",
- "lbl": "Generalized muscle weakness",
- "meta": {
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- "val": "HP:0003686"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003723"
- }
- ],
- "definition": {
- "val": "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised weakness"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Muscle weakness, generalised"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, diffuse"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, generalized"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0746674"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003325",
- "lbl": "Limb-girdle muscle weakness",
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- "basicPropertyValues": [
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- "val": "HP:0008971"
- }
- ],
- "definition": {
- "val": "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Limb girdle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, limb-girdle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscular weakness, limb-girdle"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858127"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003326",
- "lbl": "Myalgia",
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- "basicPropertyValues": [
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- "val": "HP:0003718"
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- ],
- "definition": {
- "val": "Pain in muscle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle ache",
- "xrefs": [
- "ORCID:0000-0002-0736-9199"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle pain",
- "xrefs": [
- "ORCID:0000-0002-0736-9199"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Myalgias",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D063806"
- },
- {
- "val": "SNOMEDCT_US:68962001"
- },
- {
- "val": "UMLS:C0231528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003327",
- "lbl": "Axial muscle weakness",
- "meta": {
- "definition": {
- "val": "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1843697"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003328",
- "lbl": "Abnormal hairshaft morphology",
- "meta": {
- "definition": {
- "val": "An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003329",
- "lbl": "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025631"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003330",
- "lbl": "Abnormal bone structure",
- "meta": {
- "definition": {
- "val": "Any anomaly in the composite material or the layered arrangement of the bony skeleton.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025630"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003332",
- "lbl": "Absent primary metaphyseal spongiosa",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3277126"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003333",
- "lbl": "Increased serum beta-hexosaminidase",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008299"
- }
- ],
- "comments": [
- "This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside."
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003334",
- "lbl": "Elevated circulating catecholamine level",
- "meta": {
- "comments": [
- "Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma."
- ],
- "definition": {
- "val": "An abnormal increase in catecholamine concentration in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025629"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003335",
- "lbl": "obsolete Low gonadotropins (secondary hypogonadism)",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000044"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003336",
- "lbl": "Abnormal enchondral ossification",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003331"
- }
- ],
- "comments": [
- "This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy."
- ],
- "definition": {
- "val": "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025628"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003337",
- "lbl": "Reduced prothrombin consumption",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008172"
- }
- ],
- "definition": {
- "val": "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Poor prothrombin consumption"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021732"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003338",
- "lbl": "Focal necrosis of right ventricular muscle cells",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025627"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003339",
- "lbl": "Pyrimidine-responsive megaloblastic anemia",
- "meta": {
- "definition": {
- "val": "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Anaemia corrected by uridylic acid and cytidylic acid"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Pyrimidine-responsive megaloblastic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anemia corrected by uridylic acid and cytidylic acid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021731"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003340",
- "lbl": "obsolete Abnormal dermatological laboratory findings",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000951"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003341",
- "lbl": "Lamina lucida cleavage",
- "meta": {
- "comments": [
- "Cleavage within the lamina lucida is observed in junctional epidermolysis bullosa."
- ],
- "definition": {
- "val": "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Blistering with junctional split"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Junctional split"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subepidermal blistering with cleavage in the lamina lucida"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021730"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003343",
- "lbl": "Reduced glutathione synthetase level",
- "meta": {
- "definition": {
- "val": "Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.",
- "xrefs": [
- "PMID:17397529"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Glutathione synthetase deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536835"
- },
- {
- "val": "SNOMEDCT_US:124706000"
- },
- {
- "val": "SNOMEDCT_US:234589002"
- },
- {
- "val": "SNOMEDCT_US:39112005"
- },
- {
- "val": "UMLS:C0398746"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003344",
- "lbl": "3-Methylglutaric aciduria",
- "meta": {
- "definition": {
- "val": "An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.",
- "xrefs": [
- "PMID:19177531"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "3-methylglutaricaciduria"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3151952"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003345",
- "lbl": "Elevated urinary norepinephrine",
- "meta": {
- "definition": {
- "val": "An increased concentration of noradrenaline in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025626"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003347",
- "lbl": "Impaired lymphocyte transformation with phytohemagglutinin",
- "meta": {
- "comments": [
- "The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis."
- ],
- "definition": {
- "val": "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025625"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003348",
- "lbl": "Hyperalaninemia",
- "meta": {
- "comments": [
- "This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter."
- ],
- "definition": {
- "val": "An increased concentration of alanine in the blood.",
- "xrefs": [
- "HPO:gcarletti",
- "PMID:16902722",
- "PMID:4696900"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased blood alanine"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased serum alanine"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562684"
- },
- {
- "val": "SNOMEDCT_US:2359002"
- },
- {
- "val": "UMLS:C0268630"
- },
- {
- "val": "UMLS:C1839424"
- },
- {
- "val": "UMLS:C1849489"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003349",
- "lbl": "Low cholesterol esterification rate",
- "meta": {
- "comments": [
- "Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source."
- ],
- "definition": {
- "val": "A reduction in the rate of cholesterol esterification.",
- "xrefs": [
- "HPO:probinson",
- "PMID:3378364"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1843371"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003351",
- "lbl": "Decreased circulating renin level",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003263"
- }
- ],
- "definition": {
- "val": "An decreased level of renin in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased plasma renin activity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low plasma renin activity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Suppressed plasma renin activity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845206"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003352",
- "lbl": "Endopolyploidy on chromosome studies of bone marrow",
- "meta": {
- "comments": [
- "Endopolyploidy is caused by replication without cell division."
- ],
- "definition": {
- "val": "An increase in the number of chromosome sets per cell in bone marrow cells.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025624"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003353",
- "lbl": "Propionyl-CoA carboxylase deficiency",
- "meta": {
- "comments": [
- "Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids."
- ],
- "definition": {
- "val": "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D056693"
- },
- {
- "val": "SNOMEDCT_US:124718009"
- },
- {
- "val": "SNOMEDCT_US:69080001"
- },
- {
- "val": "UMLS:C0268579"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003354",
- "lbl": "Hyperthreoninemia",
- "meta": {
- "definition": {
- "val": "An increased concentration of threonine in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High blood threonine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated circulating threonine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848861"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003355",
- "lbl": "Aminoaciduria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002903"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008335"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200014"
- }
- ],
- "definition": {
- "val": "An increased concentration of an amino acid in the urine.",
- "xrefs": [
- "HPO:SKOEHLER"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal urinary amino-acid findings"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine amino acid levels",
- "xrefs": [
- "orcid.org/0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased levels of animo acids in urine",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperaminoaciduria"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:35912001"
- },
- {
- "val": "UMLS:C0238621"
- },
- {
- "val": "UMLS:C4020843"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003357",
- "lbl": "Thymic hormone decreased",
- "meta": {
- "definition": {
- "val": "A reduction in the level of thymic horomone.",
- "xrefs": [
- "PMID:7058086"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased thymic hormone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857652"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003358",
- "lbl": "Elevated intracellular cystine",
- "meta": {
- "comments": [
- "Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond."
- ],
- "definition": {
- "val": "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025623"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003359",
- "lbl": "Decreased urinary sulfate",
- "meta": {
- "definition": {
- "val": "Decreased concentration of sulfate in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased urinary sulfate"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased urinary sulphate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848958"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003361",
- "lbl": "Tryptophanuria",
- "meta": {
- "comments": [
- "Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours."
- ],
- "definition": {
- "val": "An increased concentration of tryptophan in the urine.",
- "xrefs": [
- "HPO:gcarletti",
- "PMID:18901181"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine tryptophan levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:18789002"
- },
- {
- "val": "UMLS:C0268472"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003362",
- "lbl": "Increased VLDL cholesterol concentration",
- "meta": {
- "definition": {
- "val": "An increase in the amount of very-low-density lipoprotein cholesterol in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased plasma VLDL cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased circulating very-low-density lipoprotein cholesterol"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased circulating very-low-density lipoprotein levels"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021729"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003363",
- "lbl": "Abdominal situs inversus",
- "meta": {
- "definition": {
- "val": "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Situs inversus visceralis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Situs inversus viscerum"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:3816"
- },
- {
- "val": "MSH:D012857"
- },
- {
- "val": "SNOMEDCT_US:27317008"
- },
- {
- "val": "SNOMEDCT_US:43876007"
- },
- {
- "val": "UMLS:C0037221"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003365",
- "lbl": "Arthralgia of the hip",
- "meta": {
- "definition": {
- "val": "Joint pain affecting the hip.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hip joint pain",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coxalgia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hip arthralgia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:49218002"
- },
- {
- "val": "UMLS:C0019559"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003366",
- "lbl": "Abnormal femoral neck/head morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal neck or head of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the femoral neck or head region"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025622"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003367",
- "lbl": "Abnormal femoral neck morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal neck of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the femoral neck"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025621"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003368",
- "lbl": "Abnormal femoral head morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of the femoral head.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal head of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the femoral head"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025620"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003370",
- "lbl": "Flat capital femoral epiphysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006393"
- }
- ],
- "definition": {
- "val": "An abnormal flattening of the proximal epiphysis of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat end part of innermost thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat capital femoral epiphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat femoral capital epiphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat proximal femoral epiphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flattened proximal femoral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842155"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003371",
- "lbl": "Enlargement of the proximal femoral epiphysis",
- "meta": {
- "definition": {
- "val": "An abnormal enlargement of the proximal epiphysis of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged end part of innermost thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged capital femoral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859697"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003375",
- "lbl": "Narrow greater sciatic notch",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0008803"
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- "val": "HP:0008805"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008813"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008840"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008842"
- }
- ],
- "comments": [
- "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch."
- ],
- "definition": {
- "val": "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.",
- "xrefs": [
- "HPO:pnrobinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Narrow greater sacrosciatic notches"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow sacroiliac notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow sacrosciatic notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow sciatic notches"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrowed greater sciatic notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrowed sacrosciatic notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small sacrosciatic notch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small sacrosciatic notches"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:289457006"
- },
- {
- "val": "UMLS:C0566888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003376",
- "lbl": "Steppage gait",
- "meta": {
- "definition": {
- "val": "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.",
- "xrefs": [
- "HPO:probinson",
- "PMID:27770207"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High stepping",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020233"
- },
- {
- "val": "SNOMEDCT_US:27253007"
- },
- {
- "val": "UMLS:C0427149"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003378",
- "lbl": "Axonal degeneration/regeneration",
- "meta": {
- "comments": [
- "This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment."
- ],
- "definition": {
- "val": "A pattern of simultaneous degeneration and regeneration of axons (see comment).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Axon degeneration and regeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003380",
- "lbl": "Decreased number of peripheral myelinated nerve fibers",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003385"
- },
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- "val": "HP:0003386"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007093"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007135"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007177"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007320"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007322"
- }
- ],
- "comments": [
- "This finding can be demonstrated by nerve biopsy."
- ],
- "definition": {
- "val": "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased number of large and small myelinated fibres"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased number of peripheral myelinated nerve fibres"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Loss of myelinated fibres"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased number of large and small myelinated fibers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of myelinated fibers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003382",
- "lbl": "Hypertrophic nerve changes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832776"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003383",
- "lbl": "Onion bulb formation",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003389"
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- "val": "HP:0007013"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007022"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007084"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008276"
- }
- ],
- "comments": [
- "This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve."
- ],
- "definition": {
- "val": "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Onion bulb formations",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1847906"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003384",
- "lbl": "Peripheral axonal atrophy",
- "meta": {
- "comments": [
- "This finding is typically demonstrated by nerve biopsy."
- ],
- "definition": {
- "val": "Atrophic changes of axons of the peripheral nervous system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025619"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003387",
- "lbl": "Decreased number of large peripheral myelinated nerve fibers",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006868"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007031"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007315"
- }
- ],
- "comments": [
- "This finding can be demonstrated by nerve biopsy."
- ],
- "definition": {
- "val": "A reduced number of large myelinated nerve fibers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased number of large peripheral myelinated nerve fibres"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Depletion of large myelinated fibres"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Loss of large myelinated fibres"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Loss of larger myelinated nerve fibres"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Depletion of large myelinated fibers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of large myelinated fibers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of larger myelinated nerve fibers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003388",
- "lbl": "Easy fatigability",
- "meta": {
- "comments": [
- "Fatigue describes the inability to continue performing a task after multiple repetitions."
- ],
- "definition": {
- "val": "Increased susceptibility to fatigue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tired easily",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248268002"
- },
- {
- "val": "UMLS:C0424585"
- },
- {
- "val": "UMLS:C1837098"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003390",
- "lbl": "Sensory axonal neuropathy",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006883"
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- "val": "HP:0007248"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007345"
- }
- ],
- "definition": {
- "val": "An axonal neuropathy of peripheral sensory nerves.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Axonal sensory neuropathy"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Peripheral sensory axonal neuropathy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1842587"
- },
- {
- "val": "UMLS:C1970883"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003391",
- "lbl": "Gowers sign",
- "meta": {
- "definition": {
- "val": "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gower sign"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Positive Gower sign"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Positive Gowers sign"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298294005"
- },
- {
- "val": "SNOMEDCT_US:85905009"
- },
- {
- "val": "UMLS:C0234182"
- },
- {
- "val": "UMLS:C0575071"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003392",
- "lbl": "First dorsal interossei muscle weakness",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832277"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003393",
- "lbl": "Thenar muscle atrophy",
- "meta": {
- "definition": {
- "val": "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thenar atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864715"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003394",
- "lbl": "Muscle spasm",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0009018"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0031988"
- }
- ],
- "definition": {
- "val": "Sudden and involuntary contractions of one or more muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Muscle cramps"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009120"
- },
- {
- "val": "SNOMEDCT_US:55300003"
- },
- {
- "val": "UMLS:C0026821"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003396",
- "lbl": "Syringomyelia",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006933"
- }
- ],
- "definition": {
- "val": "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fluid-filled cyst in spinal cord",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Syrinx"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D013595"
- },
- {
- "val": "SNOMEDCT_US:111496009"
- },
- {
- "val": "UMLS:C0039144"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003397",
- "lbl": "Generalized hypotonia due to defect at the neuromuscular junction",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hypotonia due to defect at the neuromuscular junction"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853950"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003398",
- "lbl": "Abnormal synaptic transmission at the neuromuscular junction",
- "meta": {
- "definition": {
- "val": "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of neuromuscular transmission"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020842"
- },
- {
- "val": "UMLS:C4025618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003400",
- "lbl": "Basal lamina onion bulb formation",
- "meta": {
- "definition": {
- "val": "A type of onion bulb formation prominently affecting the area of the basal lamina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Basal lamina 'onion bulb' formations on nerve biopsy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866637"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003401",
- "lbl": "Paresthesia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002082"
- }
- ],
- "definition": {
- "val": "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pins and needles feeling"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tingling"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Paresthesias"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010292"
- },
- {
- "val": "SNOMEDCT_US:91019004"
- },
- {
- "val": "UMLS:C0030554"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003402",
- "lbl": "Decreased miniature endplate potentials",
- "meta": {
- "comments": [
- "Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft."
- ],
- "definition": {
- "val": "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased MEPP"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small miniature endplate currents"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small miniature endplate potentials"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853952"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003403",
- "lbl": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003430"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003478"
- }
- ],
- "comments": [
- "The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP."
- ],
- "definition": {
- "val": "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "EMG: decremental response of CMAP to repetitive nerve stimulation"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "EMG: decrement at repetitive stimulation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020841"
- },
- {
- "val": "UMLS:C4021728"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003405",
- "lbl": "Diffuse axonal swelling",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1865417"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003406",
- "lbl": "Peripheral nerve compression",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1851414"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003409",
- "lbl": "Distal sensory impairment of all modalities",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006984"
- }
- ],
- "definition": {
- "val": "Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory loss to all modalities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836527"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003411",
- "lbl": "Proximal femoral metaphyseal irregularity",
- "meta": {
- "definition": {
- "val": "Irregularity of the normally smooth surface of the proximal metaphysis of the femur."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular proximal femoral metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836320"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003413",
- "lbl": "Atlantoaxial abnormality",
- "meta": {
- "definition": {
- "val": "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003414",
- "lbl": "Atlantoaxial dislocation",
- "meta": {
- "definition": {
- "val": "Partial dislocation of the atlantoaxial joint.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Atlanto-axial subluxation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atlantoaxial subluxation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:263042007"
- },
- {
- "val": "SNOMEDCT_US:45179004"
- },
- {
- "val": "UMLS:C0263905"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003416",
- "lbl": "Spinal canal stenosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008446"
- }
- ],
- "comments": [
- "Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column."
- ],
- "definition": {
- "val": "An abnormal narrowing of the spinal canal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow spinal canal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Spinal stenosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861329"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003417",
- "lbl": "Coronal cleft vertebrae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003673"
- }
- ],
- "comments": [
- "Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed."
- ],
- "definition": {
- "val": "Frontal schisis (cleft or cleavage) of vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Coronal clefts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coronal vertebral clefts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral coronal clefts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "coronal cleft of vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834954"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003418",
- "lbl": "Back pain",
- "meta": {
- "definition": {
- "val": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Back pain"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001416"
- },
- {
- "val": "SNOMEDCT_US:161891005"
- },
- {
- "val": "UMLS:C0004604"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003419",
- "lbl": "Low back pain",
- "meta": {
- "definition": {
- "val": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lower back pain"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017116"
- },
- {
- "val": "SNOMEDCT_US:279039007"
- },
- {
- "val": "UMLS:C0024031"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003421",
- "lbl": "obsolete Platyspondyly (childhood)",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000926"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003422",
- "lbl": "Vertebral segmentation defect",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005705"
- }
- ],
- "comments": [
- "The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae."
- ],
- "definition": {
- "val": "An abnormality related to a defect of vertebral separation during development.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23653580",
- "PMID:23801490"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal spinal segmentation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205455005"
- },
- {
- "val": "UMLS:C0432163"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003423",
- "lbl": "Thoracolumbar kyphoscoliosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dorsolumbar kyphosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859335"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003426",
- "lbl": "First dorsal interossei muscle atrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832278"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003427",
- "lbl": "Thenar muscle weakness",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003429",
- "lbl": "CNS hypomyelination",
- "meta": {
- "definition": {
- "val": "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:111007000"
- },
- {
- "val": "UMLS:C0544820"
- },
- {
- "val": "UMLS:C4025616"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003431",
- "lbl": "Decreased motor nerve conduction velocity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000760"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003379"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003395"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003437"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006907"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008170"
- }
- ],
- "comments": [
- "Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers."
- ],
- "definition": {
- "val": "A type of decreased nerve conduction velocity that affects the motor neuron.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased motor NCV"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased motor nerve conduction velocities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced motor nerve conduction velocity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858729"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003434",
- "lbl": "Sensory ataxic neuropathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843859"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003435",
- "lbl": "Cold-induced hand cramps",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832279"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003436",
- "lbl": "Prolonged miniature endplate currents",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003479"
- }
- ],
- "definition": {
- "val": "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Prolonged MEPC"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prolonged MEPP"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prolonged miniature endplate potentials"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864238"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003438",
- "lbl": "Absent Achilles reflex",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007032"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007241"
- }
- ],
- "definition": {
- "val": "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent ankle reflexes"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012021"
- },
- {
- "val": "SNOMEDCT_US:274818004"
- },
- {
- "val": "UMLS:C0558845"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003440",
- "lbl": "Horizontal sacrum",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850558"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003443",
- "lbl": "Decreased size of nerve terminals",
- "meta": {
- "comments": [
- "Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy."
- ],
- "definition": {
- "val": "A reduction in the size of nerve terminals.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025615"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003444",
- "lbl": "EMG: chronic denervation signs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007059"
- }
- ],
- "comments": [
- "This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed."
- ],
- "definition": {
- "val": "Evidence of chronic denervation on electromyography.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025614"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003445",
- "lbl": "EMG: neuropathic changes",
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- "val": "HP:0002547"
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- "val": "HP:0007279"
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- "comments": [
- "This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience."
- ],
- "definition": {
- "val": "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "EMG: neurogenic abnormalities"
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- "pred": "hasExactSynonym",
- "val": "EMG: neurogenic changes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "EMG: neurogenic findings"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021727"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003447",
- "lbl": "Axonal loss",
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- "val": "HP:0003360"
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- "comments": [
- "This finding can be observed upon nerve biopsy."
- ],
- "definition": {
- "val": "A reduction in the number of axons in the peripheral nervous system.",
- "xrefs": [
- "DDD:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1832338"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003448",
- "lbl": "Decreased sensory nerve conduction velocity",
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- "val": "HP:0006914"
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- "comments": [
- "The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse."
- ],
- "definition": {
- "val": "Reduced speed of conduction of the action potential along a sensory nerve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased sensory NCV"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased sensory nerve conduction velocities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849148"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003449",
- "lbl": "Cold-induced muscle cramps",
- "meta": {
- "definition": {
- "val": "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1861675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003450",
- "lbl": "Axonal regeneration",
- "meta": {
- "comments": [
- "This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information."
- ],
- "definition": {
- "val": "The presence of axonal regeneration following a previous axonal lesion.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Regenerative activity on nerve biopsy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854454"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003451",
- "lbl": "Increased rate of premature chromosome condensation",
- "meta": {
- "definition": {
- "val": "An increased rate of premature chromosome condensation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025613"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003452",
- "lbl": "Increased serum iron",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:165624002"
- },
- {
- "val": "UMLS:C0151900"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003453",
- "lbl": "Antineutrophil antibody positivity",
- "meta": {
- "comments": [
- "Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive."
- ],
- "definition": {
- "val": "The presence of autoantibodies in the serum that react against neutrophils.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Antineutrophil antibodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neutrophil antibody positive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858981"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003454",
- "lbl": "Platelet antibody positive",
- "meta": {
- "definition": {
- "val": "The presence in the serum of autoantibodies directed against thrombocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Platelet antibody"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858980"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003455",
- "lbl": "Elevated circulating long chain fatty acid concentration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008333"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0045016"
- }
- ],
- "comments": [
- "This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes."
- ],
- "definition": {
- "val": "Increased concentration of long-chain fatty acids in the blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated long chain fatty acids"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated serum long-chain fatty acids"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased serum long-chain fatty acids"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859241"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003456",
- "lbl": "Low urinary cyclic AMP response to PTH administration",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1864105"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003457",
- "lbl": "EMG abnormality",
- "meta": {
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- "val": "HP:0003751"
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- "val": "HP:0003753"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100286"
- }
- ],
- "definition": {
- "val": "Abnormal results of investigations using electromyography (EMG).",
- "xrefs": [
- "HPO:probinson",
- "PMID:15961866",
- "PMID:18751841"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal EMG"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal electromyography finding"
- },
- {
- "pred": "hasExactSynonym",
- "val": "EMG abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Electromyogram abnormal"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274523007"
- },
- {
- "val": "UMLS:C0476403"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003458",
- "lbl": "EMG: myopathic abnormalities",
- "meta": {
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- "val": "HP:0003711"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009021"
- }
- ],
- "definition": {
- "val": "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "EMG: myopathic changes"
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- "pred": "hasExactSynonym",
- "val": "EMG: myopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myopathic electromyogram"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021726"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003459",
- "lbl": "Polyclonal elevation of IgM",
- "meta": {
- "definition": {
- "val": "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.",
- "xrefs": [
- "PMID:11508831"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025612"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003460",
- "lbl": "Decreased circulating total IgA",
- "meta": {
- "definition": {
- "val": "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased total IgA in blood"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Total immunoglobulin A deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003461",
- "lbl": "Increased urinary O-linked sialopeptides",
- "meta": {
- "definition": {
- "val": "Excretion of peptides conjugated to sialic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1836533"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003462",
- "lbl": "Elevated 8-dehydrocholesterol",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1840013"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003463",
- "lbl": "Increased extraneuronal autofluorescent lipopigment",
- "meta": {
- "definition": {
- "val": "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11406682"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Lipopigment in extraneuronal cells"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859828"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003464",
- "lbl": "obsolete Abnormal cholesterol homeostasis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0003107"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003465",
- "lbl": "Elevated 8(9)-cholestenol",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1840014"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003466",
- "lbl": "Paradoxical increased cortisol secretion on dexamethasone suppression test",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968855"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003467",
- "lbl": "Atlantoaxial instability",
- "meta": {
- "comments": [
- "Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord."
- ],
- "definition": {
- "val": "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:202820009"
- },
- {
- "val": "UMLS:C0410653"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003468",
- "lbl": "Abnormal vertebral morphology",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005719"
- }
- ],
- "comments": [
- "A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone)."
- ],
- "definition": {
- "val": "An abnormality of one or more of the vertebrae.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vertebral anomalies"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormal vertebral bodies"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Multiple vertebral anomalies",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4108"
- },
- {
- "val": "SNOMEDCT_US:205043005"
- },
- {
- "val": "SNOMEDCT_US:74877002"
- },
- {
- "val": "UMLS:C0158775"
- },
- {
- "val": "UMLS:C4020839"
- },
- {
- "val": "UMLS:C4020840"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003469",
- "lbl": "Peripheral dysmyelination",
- "meta": {
- "definition": {
- "val": "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025610"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003470",
- "lbl": "Paralysis",
- "meta": {
- "definition": {
- "val": "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Paralysis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to move",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D010243"
- },
- {
- "val": "SNOMEDCT_US:44695005"
- },
- {
- "val": "UMLS:C0522224"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003472",
- "lbl": "Hypocalcemic tetany",
- "meta": {
- "definition": {
- "val": "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:190869004"
- },
- {
- "val": "UMLS:C0151940"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003473",
- "lbl": "Fatigable weakness",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003399"
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- "val": "HP:0003428"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100794"
- }
- ],
- "comments": [
- "This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering."
- ],
- "definition": {
- "val": "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised muscle weakness due to defect at the neuromuscular junction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fatigable weakness of limb muscles"
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- {
- "pred": "hasExactSynonym",
- "val": "Generalized muscle weakness due to defect at the neuromuscular junction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myasthenia"
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- {
- "pred": "hasExactSynonym",
- "val": "Myasthenic weakness"
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- {
- "pred": "hasExactSynonym",
- "val": "Proximal muscle weakness due to defect at the neuromuscular junction"
- }
- ],
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- "val": "UMLS:C0947912"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003474",
- "lbl": "Somatic sensory dysfunction",
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- }
- ],
- "comments": [
- "This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia."
- ],
- "definition": {
- "val": "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Sensory impairment"
- }
- ],
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- "val": "MSH:D006987"
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- {
- "val": "SNOMEDCT_US:397974008"
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- "val": "SNOMEDCT_US:398026008"
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- "val": "SNOMEDCT_US:59073000"
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- "val": "UMLS:C0020580"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003477",
- "lbl": "Peripheral axonal neuropathy",
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- "val": "HP:0006842"
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- "val": "HP:0007169"
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- "val": "HP:0008304"
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- ],
- "comments": [
- "This abnormality can be assay by electromyography (EMG) or by nerve biopsy."
- ],
- "definition": {
- "val": "An abnormality characterized by disruption of the normal functioning of peripheral axons.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Axonal neuropathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Axonal peripheral neuropathy"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:128208007"
- },
- {
- "val": "SNOMEDCT_US:60703000"
- },
- {
- "val": "UMLS:C0270921"
- },
- {
- "val": "UMLS:C1263857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003481",
- "lbl": "Segmental peripheral demyelination/remyelination",
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- "val": "HP:0003425"
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- ],
- "definition": {
- "val": "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Segmental demyelination/remyelination"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843077"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003482",
- "lbl": "EMG: axonal abnormality",
- "meta": {
- "comments": [
- "This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations."
- ],
- "definition": {
- "val": "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025609"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003484",
- "lbl": "Upper limb muscle weakness",
- "meta": {
- "definition": {
- "val": "Weakness of the muscles of the arms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased arm strength",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weak arm",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:713512009"
- },
- {
- "val": "UMLS:C1698196"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003487",
- "lbl": "Babinski sign",
- "meta": {
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- "val": "HP:0001352"
- }
- ],
- "comments": [
- "A positive Babinski sign can indicate damage to the corticospinal tract."
- ],
- "definition": {
- "val": "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Extensor plantar reflexes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extensor plantar response"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Extensor plantar responses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Positive Babinski sign"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:246586009"
- },
- {
- "val": "SNOMEDCT_US:366575004"
- },
- {
- "val": "UMLS:C0034935"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003489",
- "lbl": "Acute episodes of neuropathic symptoms",
- "meta": {
- "comments": [
- "Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia)."
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867971"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003490",
- "lbl": "obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0003150"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003491",
- "lbl": "Elevated urine pyrophosphate",
- "meta": {
- "definition": {
- "val": "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025607"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003492",
- "lbl": "High urinary gonadotropin level",
- "meta": {
- "comments": [
- "'has part' some \n('increased amount' and ('inheres in' some \n('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003493",
- "lbl": "Antinuclear antibody positivity",
- "meta": {
- "comments": [
- "Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim."
- ],
- "definition": {
- "val": "The presence of autoantibodies in the serum that react against nuclei or nuclear components.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Antinuclear antibodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antinuclear antibody positive"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated antinuclear antibody"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Serum antinuclear antibody"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:165850001"
- },
- {
- "val": "UMLS:C0151480"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003494",
- "lbl": "obsolete Loss of heterozygosity, multiple chromosomes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0001428"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003495",
- "lbl": "GM2-ganglioside accumulation",
- "meta": {
- "comments": [
- "Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue."
- ],
- "definition": {
- "val": "Cellular accumulation of GM2 gangliosides.",
- "xrefs": [
- "PMID:30524313"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1848920"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003496",
- "lbl": "Increased circulating IgM level",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002962"
- }
- ],
- "definition": {
- "val": "An abnormally increased level of immunoglobulin M in blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increased IgM levels"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased levels of IgM"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839972"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003498",
- "lbl": "Disproportionate short stature",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008900"
- }
- ],
- "definition": {
- "val": "A kind of short stature in which different regions of the body are shortened to differing extents.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Short stature, disproportionate"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Short stature, severe disproportionate",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0878659"
- },
- {
- "val": "UMLS:C1846797"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003502",
- "lbl": "Mild short stature",
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- "val": "HP:0008879"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008908"
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- ],
- "definition": {
- "val": "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.",
- "xrefs": [
- "DDD:hfirth"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Relative short stature"
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- {
- "pred": "hasExactSynonym",
- "val": "short stature, mild",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3150077"
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- {
- "val": "UMLS:C4020838"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003508",
- "lbl": "Proportionate short stature",
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- "val": "HP:0003499"
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- ],
- "definition": {
- "val": "A kind of short stature in which different regions of the body are shortened to a comparable extent.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Proportionate small stature"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short stature, proportionate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0878660"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003510",
- "lbl": "Severe short stature",
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- "val": "HP:0001516"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003504"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008867"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008884"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008907"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008920"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008930"
- }
- ],
- "comments": [
- "The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm)."
- ],
- "definition": {
- "val": "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dwarfism"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Proportionate dwarfism"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severe short stature"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short stature, severe",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short stature, extreme",
- "xrefs": [
- "HPO:skoehler"
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- ],
- "xrefs": [
- {
- "val": "MSH:D004392"
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- {
- "val": "SNOMEDCT_US:237836003"
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- {
- "val": "SNOMEDCT_US:237837007"
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- {
- "val": "SNOMEDCT_US:422065006"
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- {
- "val": "UMLS:C0013336"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003513",
- "lbl": "Reduced ratio of renal calcium clearance to creatinine clearance",
- "meta": {
- "definition": {
- "val": "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Reduced ration of renal Ca clearance to creatinine clearance",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Reduced ration of renal Ca2+ to creatinine clearance",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced ration of kidney calcium clearance to creatinine clearance",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025605"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003514",
- "lbl": "Deficiency or absence of cytochrome b(-245)",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Deficiency or absence of cytochrome b"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003517",
- "lbl": "Birth length greater than 97th percentile",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal overgrowth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fetal overgrowth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839271"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003521",
- "lbl": "Disproportionate short-trunk short stature",
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- "val": "HP:0003500"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008923"
- }
- ],
- "definition": {
- "val": "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Disproportionate short-trunked dwarfism"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionate short-trunked short stature"
- },
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short-trunked dwarfism"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846435"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003524",
- "lbl": "Decreased methionine synthase activity",
- "meta": {
- "comments": [
- "Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine."
- ],
- "definition": {
- "val": "A reduction in methionine synthase activity.",
- "xrefs": [
- "HPO:probins"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased activity of methionine synthase"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Methionine synthase activity decreased"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Methionine synthase deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced methionine synthase activity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848580"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003526",
- "lbl": "Orotic acid crystalluria",
- "meta": {
- "definition": {
- "val": "Formation of crystals owing to an increased concentration of orotic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3278626"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003527",
- "lbl": "Hyperprostaglandinuria",
- "meta": {
- "definition": {
- "val": "An increased concentration of prostaglandin in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine prostaglandin levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866498"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003528",
- "lbl": "Elevated calcitonin",
- "meta": {
- "comments": [
- "Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elevated calcitonin"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003529",
- "lbl": "Parathormone-independent increased renal tubular calcium reabsorption",
- "meta": {
- "comments": [
- "This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis."
- ],
- "definition": {
- "val": "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23802516"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Parathormone-independent increased renal tubular Ca reabsorption",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Parathormone-independent increased renal tubular Ca2+ reabsorption",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025604"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003530",
- "lbl": "Elevated circulating glutaric acid concentration",
- "meta": {
- "definition": {
- "val": "An increased concentration of glutaric acid in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Glutaric acidemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glutarate acidemia",
- "xrefs": [
- "https://orcid.org/0000-0001-9969-8610"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025603"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003532",
- "lbl": "Ornithinuria",
- "meta": {
- "definition": {
- "val": "An increased concentration of ornithine in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025602"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003533",
- "lbl": "Reduced acetaldehyde dehydrogenase level",
- "meta": {
- "comments": [
- "In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase."
- ],
- "definition": {
- "val": "Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.",
- "xrefs": [
- "PMID:17718394"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delayed oxidation of acetaldehyde"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025601"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003534",
- "lbl": "Reduced xanthine dehydrogenase level",
- "meta": {
- "comments": [
- "This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+."
- ],
- "definition": {
- "val": "An abnormal reduction in xanthine dehydrogenase level.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Xanthine dehydrogenase deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562584"
- },
- {
- "val": "SNOMEDCT_US:124147007"
- },
- {
- "val": "SNOMEDCT_US:72682008"
- },
- {
- "val": "UMLS:C0268118"
- },
- {
- "val": "UMLS:C4025600"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003535",
- "lbl": "3-Methylglutaconic aciduria",
- "meta": {
- "comments": [
- "3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine."
- ],
- "definition": {
- "val": "An increased amount of 3-methylglutaconic acid in the urine."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "3-Methylglutaconicaciduria"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C579867"
- },
- {
- "val": "SNOMEDCT_US:237950009"
- },
- {
- "val": "UMLS:C3696376"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003536",
- "lbl": "Decreased fumarate hydratase activity",
- "meta": {
- "comments": [
- "Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate."
- ],
- "definition": {
- "val": "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1853903"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003537",
- "lbl": "Hypouricemia",
- "meta": {
- "definition": {
- "val": "An abnormally low level of uric acid in the blood.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood uric acid levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:4519003"
- },
- {
- "val": "UMLS:C0221333"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003538",
- "lbl": "Increased iduronate sulfatase level",
- "meta": {
- "comments": [
- "Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta."
- ],
- "definition": {
- "val": "An increased level of iduronate-2-sulfatase activity in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increased serum iduronate sulfatase level"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased serum iduronate sulfatase"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673363"
- },
- {
- "val": "UMLS:C4025599"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003540",
- "lbl": "Impaired platelet aggregation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008177"
- }
- ],
- "definition": {
- "val": "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.",
- "xrefs": [
- "DDD:wouwehand"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Defective platelet aggregation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deficient platelet aggregation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Platelet aggregation defect"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003541",
- "lbl": "Urinary glycosaminoglycan excretion",
- "meta": {
- "definition": {
- "val": "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025598"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003542",
- "lbl": "Increased serum pyruvate",
- "meta": {
- "comments": [
- "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle."
- ],
- "definition": {
- "val": "An increased concentration of pyruvate in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increased serum pyruvic acid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849488"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003546",
- "lbl": "Exercise intolerance",
- "meta": {
- "definition": {
- "val": "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.",
- "xrefs": [
- "PMID:10617757"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased ability to exercise",
- "xrefs": [
- "PMID:10617757",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to exercise",
- "xrefs": [
- "PMID:10617757",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low exercise endurance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poor exercise tolerance"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:267044007"
- },
- {
- "val": "UMLS:C0424551"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003547",
- "lbl": "Shoulder girdle muscle weakness",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003695"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009009"
- }
- ],
- "definition": {
- "val": "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weak shoulder muscles",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle weakness, shoulder-girdle"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shoulder girdle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shoulder weakness"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249940002"
- },
- {
- "val": "UMLS:C0427063"
- },
- {
- "val": "UMLS:C0748691"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003548",
- "lbl": "Subsarcolemmal accumulations of abnormally shaped mitochondria",
- "meta": {
- "comments": [
- "This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies."
- ],
- "definition": {
- "val": "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025597"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003549",
- "lbl": "Abnormality of connective tissue",
- "meta": {
- "definition": {
- "val": "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025596"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003550",
- "lbl": "Predominantly lower limb lymphedema",
- "meta": {
- "definition": {
- "val": "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1835228"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003551",
- "lbl": "Difficulty climbing stairs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007019"
- }
- ],
- "definition": {
- "val": "Reduced ability to climb stairs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Difficulty walking up stairs"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:282195009"
- },
- {
- "val": "UMLS:C0239067"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003552",
- "lbl": "Muscle stiffness",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009014"
- }
- ],
- "definition": {
- "val": "A condition in which muscles cannot be moved quickly without accompanying pain or spasm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:16046003"
- },
- {
- "val": "UMLS:C0221170"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003553",
- "lbl": "obsolete Cellulitis due to immunodeficiency",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0100658"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003554",
- "lbl": "Type 2 muscle fiber atrophy",
- "meta": {
- "comments": [
- "This finding can be demonstrated by muscle biopsy."
- ],
- "definition": {
- "val": "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type 2 fibre atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type 2 muscle fibre atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type 2 fiber atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864580"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003555",
- "lbl": "Muscle fiber splitting",
- "meta": {
- "definition": {
- "val": "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.",
- "xrefs": [
- "PMID:6123177"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fiber splitting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fibre splitting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Muscle fibre splitting"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836057"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003557",
- "lbl": "Increased variability in muscle fiber diameter",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003556"
- }
- ],
- "comments": [
- "This finding can be demonstrated by muscle biopsy."
- ],
- "definition": {
- "val": "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased fibre size variation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased variability in muscle fibre diameter"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased variability in muscle fibre size"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased variation in fibre size"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased variation in muscle fibre size"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Variation in muscle fibre size"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased fiber size variation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased variability in muscle fiber size"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased variation in fiber size"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased variation in muscle fiber size"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Variation in muscle fiber size"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843700"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003558",
- "lbl": "Viral infection-induced rhabdomyolysis",
- "meta": {
- "definition": {
- "val": "Rhabdomyolysis induced by a viral infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025595"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003559",
- "lbl": "Muscle hyperirritability",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1853701"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003560",
- "lbl": "Muscular dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003544"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003806"
- }
- ],
- "comments": [
- "Muscular dystrophy can be demonstrated by muscle biopsy."
- ],
- "definition": {
- "val": "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.",
- "xrefs": [
- "HPO:probinson",
- "Neuromics:vstraub"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Muscle biopsy shows dystrophic changes",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009136"
- },
- {
- "val": "SNOMEDCT_US:193225000"
- },
- {
- "val": "SNOMEDCT_US:73297009"
- },
- {
- "val": "UMLS:C0026850"
- },
- {
- "val": "UMLS:C1864711"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003561",
- "lbl": "Birth length less than 3rd percentile",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Birth length < 3rd percentile"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Birth length <3rd percentile"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855650"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003562",
- "lbl": "Abnormal metaphyseal vascular invasion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3277127"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003563",
- "lbl": "Decreased LDL cholesterol concentration",
- "meta": {
- "comments": [
- "Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol."
- ],
- "definition": {
- "val": "An decreased concentration of low-density lipoprotein cholesterol in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Decreased LDLc concentration"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Decreased LDL"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased circulating low-density lipoprotein levels"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypobetalipoproteinemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006995"
- },
- {
- "val": "SNOMEDCT_US:190786004"
- },
- {
- "val": "UMLS:C0020597"
- },
- {
- "val": "UMLS:C0853085"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003564",
- "lbl": "Folate-dependent fragile site at Xq28",
- "meta": {
- "comments": [
- "Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA)."
- ],
- "definition": {
- "val": "The presence of a folate sensitive fragile site at chromosome Xq28.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1839785"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003565",
- "lbl": "Elevated erythrocyte sedimentation rate",
- "meta": {
- "definition": {
- "val": "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.",
- "xrefs": [
- "PMID:10524488"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High ESR"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Elevated ESR",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated sedimentation rate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High erythrocyte sedimentation rate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased erythrocyte sedimentation rate"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Raised erythrocyte sedimentation rate"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:165468009"
- },
- {
- "val": "UMLS:C0151632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003566",
- "lbl": "Increased serum prostaglandin E2",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008298"
- }
- ],
- "definition": {
- "val": "An increased concentration of prostaglandin E2 in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated prostaglandin E2"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3150358"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003568",
- "lbl": "Decreased glucosephosphate isomerase level",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003290"
- }
- ],
- "comments": [
- "Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9)."
- ],
- "definition": {
- "val": "A decreased level of glucose-6-phosphate isomerase.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased glucose phosphate isomerase activity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Glucosephosphate isomerase deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Phosphohexose isomerase deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124669001"
- },
- {
- "val": "UMLS:C1291611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003570",
- "lbl": "Molybdenum cofactor deficiency",
- "meta": {
- "definition": {
- "val": "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C535811"
- },
- {
- "val": "SNOMEDCT_US:29692004"
- },
- {
- "val": "UMLS:C0268119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003571",
- "lbl": "Propionic acidemia",
- "meta": {
- "definition": {
- "val": "Increased concentration of proprionic acid in the blood circulation.",
- "xrefs": [
- "PMID:22593918"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D056693"
- },
- {
- "val": "SNOMEDCT_US:124718009"
- },
- {
- "val": "SNOMEDCT_US:69080001"
- },
- {
- "val": "UMLS:C0268579"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003572",
- "lbl": "Low plasma citrulline",
- "meta": {
- "definition": {
- "val": "A decreased concentration of citrulline in the blood.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1839532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003573",
- "lbl": "Increased total bilirubin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008168"
- }
- ],
- "definition": {
- "val": "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High bili total"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased bilirubin"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:176271000119108"
- },
- {
- "val": "UMLS:C0741494"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003574",
- "lbl": "Positive regitine blocking test",
- "meta": {
- "comments": [
- "Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites."
- ],
- "definition": {
- "val": "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025594"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003575",
- "lbl": "Increased intracellular sodium",
- "meta": {
- "definition": {
- "val": "An abnormally increased sodium concentration in the cytosol.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "High intracellular Na"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased intracellular Na+ levels"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025593"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003577",
- "lbl": "Congenital onset",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003595"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003601"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003624"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003660"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003666"
- }
- ],
- "comments": [
- "Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674)."
- ],
- "definition": {
- "val": "A phenotypic abnormality that is present at birth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Symptoms present at birth",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset at birth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836142"
- },
- {
- "val": "UMLS:C2752013"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003581",
- "lbl": "Adult onset",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003585"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003598"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003627"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003662"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003669"
- }
- ],
- "definition": {
- "val": "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Symptoms begin in adulthood",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset in adulthood"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset in early adulthood"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853562"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003584",
- "lbl": "Late onset",
- "meta": {
- "definition": {
- "val": "A type of adult onset with onset of symptoms after the age of 60 years.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025592"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003587",
- "lbl": "Insidious onset",
- "meta": {
- "definition": {
- "val": "Gradual, very slow onset of disease manifestations.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gradual onset"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:367326009"
- },
- {
- "val": "SNOMEDCT_US:61751001"
- },
- {
- "val": "UMLS:C0332164"
- },
- {
- "val": "UMLS:C1298634"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003593",
- "lbl": "Infantile onset",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003576"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003579"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003591"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003594"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003599"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003600"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003629"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003631"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003667"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003672"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010573"
- }
- ],
- "comments": [
- "Onset of signs or symptoms of disease within the first 12 months of life."
- ],
- "definition": {
- "val": "Onset of signs or symptoms of disease between 28 days to one year of life.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Infantile onset"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Onset in first year of life"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Onset in infancy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848924"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003596",
- "lbl": "Middle age onset",
- "meta": {
- "comments": [
- "Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years."
- ],
- "definition": {
- "val": "A type of adult onset with onset of symptoms at the age of 40 to 60 years.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1969363"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003606",
- "lbl": "Absent urinary urothione",
- "meta": {
- "comments": [
- "Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor."
- ],
- "definition": {
- "val": "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.",
- "xrefs": [
- "HPO:probinson",
- "PMID:6960353"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025591"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003607",
- "lbl": "4-hydroxyphenylacetic aciduria",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0033304"
- }
- ],
- "comments": [
- "4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria."
- ],
- "definition": {
- "val": "Increased concentration of 4-hydroxyphenylacetic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Elevated urine 4-hydroxyphenylacetic acid level"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C535315"
- },
- {
- "val": "UMLS:C1848680"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003609",
- "lbl": "Foam cells with lamellar inclusion bodies",
- "meta": {
- "comments": [
- "Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy."
- ],
- "definition": {
- "val": "The presence of foam cells that contain lamellar inclusion bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025590"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003610",
- "lbl": "Fibroblast metachromasia",
- "meta": {
- "comments": [
- "Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia."
- ],
- "definition": {
- "val": "Increased cytoplasmic staining of fibroblasts with toluidine blue.",
- "xrefs": [
- "HPO:probinson",
- "PMID:4195824"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1835008"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003612",
- "lbl": "Positive ferric chloride test",
- "meta": {
- "comments": [
- "The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria."
- ],
- "definition": {
- "val": "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Positive FeCl3 test",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025589"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003613",
- "lbl": "Antiphospholipid antibody positivity",
- "meta": {
- "comments": [
- "This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies."
- ],
- "definition": {
- "val": "The presence of circulating autoantibodies to phospholipids.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Antiphospholipid antibodies"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Antiphospholipid antibody"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Phospholipid antibody positivity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4019436"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003614",
- "lbl": "Trimethylaminuria",
- "meta": {
- "comments": [
- "Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide."
- ],
- "definition": {
- "val": "Increased concentration of trimethylamine in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine trimethylamine levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536561"
- },
- {
- "val": "SNOMEDCT_US:237959005"
- },
- {
- "val": "UMLS:C0342739"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003616",
- "lbl": "Premature separation of centromeric heterochromatin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849316"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003621",
- "lbl": "Juvenile onset",
- "meta": {
- "basicPropertyValues": [
- {
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- "val": "HP:0003578"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003580"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003582"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003583"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003589"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003592"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003604"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003619"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003620"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003625"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003659"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003661"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003670"
- }
- ],
- "definition": {
- "val": "Onset of signs or symptoms of disease between the age of 5 and 15 years.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Signs and symptoms begin before 15 years of age",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025588"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003623",
- "lbl": "Neonatal onset",
- "meta": {
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- {
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- "val": "HP:0003622"
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- ],
- "definition": {
- "val": "Onset of signs or symptoms of disease within the first 28 days of life.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Neonatal onset"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset in first weeks of life"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Onset in neonatal period"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855106"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003634",
- "lbl": "Amyoplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008990"
- }
- ],
- "definition": {
- "val": "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.",
- "xrefs": [
- "HPO:probinson",
- "Neuromics:vstraub"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent muscles since birth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital absence of muscles"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205532005"
- },
- {
- "val": "UMLS:C0432185"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003635",
- "lbl": "Loss of subcutaneous adipose tissue in limbs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003757"
- }
- ],
- "definition": {
- "val": "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of fat tissue below the skin in limbs",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of subcutaneous adipose tissue from extremities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837764"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003637",
- "lbl": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level",
- "meta": {
- "comments": [
- "Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria."
- ],
- "definition": {
- "val": "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Reducted HPPD activity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003639",
- "lbl": "Elevated urinary epinephrine",
- "meta": {
- "definition": {
- "val": "An increased concentration of adrenaline in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increased urinary epinephrine"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868393"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003640",
- "lbl": "CNS foam cells",
- "meta": {
- "definition": {
- "val": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system."
- },
- "xrefs": [
- {
- "val": "UMLS:C1843373"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003641",
- "lbl": "Hemoglobinuria",
- "meta": {
- "comments": [
- "If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine."
- ],
- "definition": {
- "val": "The presence of free hemoglobin in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Haemoglobin in urine"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hemoglobin in urine",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006456"
- },
- {
- "val": "SNOMEDCT_US:68600005"
- },
- {
- "val": "UMLS:C0019048"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003642",
- "lbl": "Type I transferrin isoform profile",
- "meta": {
- "comments": [
- "There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal."
- ],
- "definition": {
- "val": "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15105360",
- "PMID:22516080"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal isoelectric focusing of serum transferrin, type I pattern"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Isoelectric focusing of serum transferrin consistent with CDG type I"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type 1 transferrin isoform profile"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837899"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003643",
- "lbl": "Sulfite oxidase deficiency",
- "meta": {
- "comments": [
- "Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids."
- ],
- "definition": {
- "val": "Abnormally reduced sulfite oxidase level.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C538141"
- },
- {
- "val": "SNOMEDCT_US:367368009"
- },
- {
- "val": "UMLS:C0268624"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003645",
- "lbl": "Prolonged partial thromboplastin time",
- "meta": {
- "definition": {
- "val": "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Prolonged PTT"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal partial thromboplastin time"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed thromboplastin generation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial thromboplastin time prolonged"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Prolonged activated partial thromboplastin time"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:409675001"
- },
- {
- "val": "UMLS:C0240671"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003646",
- "lbl": "Bicarbonaturia",
- "meta": {
- "definition": {
- "val": "Abnormally increased concentration of hydrogencarbonate in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased urine bicarbonate concentration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased urine HCO3 concentration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839865"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003647",
- "lbl": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect",
- "meta": {
- "definition": {
- "val": "A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.",
- "xrefs": [
- "PMID:2989828"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025586"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003648",
- "lbl": "Lacticaciduria",
- "meta": {
- "definition": {
- "val": "An increased concentration of lactic acid in the urine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High urine lactic acid levels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased urine lactate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025585"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003649",
- "lbl": "Abnormality of glycoside metabolism",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-08T08:32:00Z"
- }
- ],
- "comments": [
- "Glycosides are molecules with a suger moiety bound to some other moiety."
- ],
- "definition": {
- "val": "Abnormality of glycoside metabolism.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025584"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003651",
- "lbl": "Foam cells",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003650"
- }
- ],
- "comments": [
- "Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy."
- ],
- "definition": {
- "val": "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Foamy histiocytes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Foamy macrophages"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lipid-laden histiocytes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Presence of foam cells"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005487"
- },
- {
- "val": "SNOMEDCT_US:16980002"
- },
- {
- "val": "UMLS:C0016390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003652",
- "lbl": "Recurrent myoglobinuria",
- "meta": {
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- "val": "HP:0008313"
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- ],
- "definition": {
- "val": "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Myoglobinuria, episodic"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myoglobinuria, recurrent",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C564018"
- },
- {
- "val": "UMLS:C1838877"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003653",
- "lbl": "Cellular metachromasia",
- "meta": {
- "comments": [
- "This investigation is no longer in common use."
- ],
- "definition": {
- "val": "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.",
- "xrefs": [
- "HPO:probinson",
- "PMID:4195824"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025583"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003654",
- "lbl": "Reduced dihydropyrimidine dehydrogenase level",
- "meta": {
- "comments": [
- "Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides."
- ],
- "definition": {
- "val": "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.",
- "xrefs": [
- "HPO:gcarletti"
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- "val": "SNOMEDCT_US:77365006"
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- {
- "val": "UMLS:C1959620"
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- "val": "UMLS:C4025582"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003655",
- "lbl": "Reduced level of N-acetylglucosaminyltransferase II",
- "meta": {
- "definition": {
- "val": "An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.",
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- "HPO:gcarletti"
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- "pred": "hasExactSynonym",
- "val": "Deficient N-acetylglucosaminyltransferase II"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021725"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003656",
- "lbl": "Decreased beta-glucocerebrosidase level",
- "meta": {
- "comments": [
- "An enzyme that hydrolyzes beta-glucosides in cerebrosides."
- ],
- "definition": {
- "val": "Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased lysosomal acid glucosylceramidase activity"
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- ],
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- "val": "UMLS:C1842710"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003657",
- "lbl": "Granular osmiophilic deposits (GROD) in cells",
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- "val": "UMLS:C1859833"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003658",
- "lbl": "Hypomethioninemia",
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- "comments": [
- "Normal methionine blood levels are around 30 micromole per liter."
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- "definition": {
- "val": "A decreased concentration of methionine in the blood.",
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- "HPO:gcarletti"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Decreased plasma methionine"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased serum methionine"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1848555"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003665",
- "lbl": "Amyotrophy of the musculature of the pelvis",
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- "val": "2008-04-07T10:57:00Z"
- }
- ],
- "definition": {
- "val": "Muscular atrophy affecting the muscles of the pelvis.",
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- "HPO:curators"
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- },
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- {
- "val": "UMLS:C4025581"
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- },
- "type": "CLASS"
- },
- {
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- "lbl": "Onset",
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- "val": "HP:0003597"
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- "val": "HP:0003618"
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- },
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- "pred": "hasRelatedSynonym",
- "val": "Progressive disorder"
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- "val": "SNOMEDCT_US:252157006"
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- "val": "SNOMEDCT_US:255314001"
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- "val": "UMLS:C0205329"
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- "val": "UMLS:C1864985"
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- },
- "type": "CLASS"
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- "lbl": "Slowly progressive",
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- "pred": "hasExactSynonym",
- "val": "Slowly progressive disorder"
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- "lbl": "Rapidly progressive",
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- "synonyms": [
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- }
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- "val": "UMLS:C1838681"
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- "val": "UMLS:C1850776"
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- "lbl": "Pace of progression",
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- "pred": "hasExactSynonym",
- "val": "Non-progressive"
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- "val": "UMLS:C1970284"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003683",
- "lbl": "obsolete Large beaked nose",
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- "id": "http://purl.obolibrary.org/obo/HP_0003687",
- "lbl": "Centrally nucleated skeletal muscle fibers",
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- "comments": [
- "Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma)."
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- "definition": {
- "val": "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).",
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- "val": "UMLS:C1842170"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003688",
- "lbl": "Cytochrome C oxidase-negative muscle fibers",
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- "val": "Decreased skeletal muscle cytochrome c oxidase activity"
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- "type": "CLASS"
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- "definition": {
- "val": "The presence of multiple deletions of mitochondrial DNA (mtDNA).",
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- "subsets": [
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C4025578"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003696",
- "lbl": "Absent epiphysis of the distal phalanx of the 5th finger",
- "meta": {
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- "val": "2008-12-22T01:37:43Z"
- }
- ],
- "definition": {
- "val": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.",
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- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Absent end part of the outermost bone of the pinky finger",
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- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003697",
- "lbl": "Scapuloperoneal amyotrophy",
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- "val": "HP:0008957"
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- ],
- "definition": {
- "val": "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003698",
- "lbl": "Difficulty standing",
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- "val": "Standing instability"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:249902000"
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- {
- "val": "UMLS:C0241237"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003700",
- "lbl": "Generalized amyotrophy",
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- "val": "HP:0009052"
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- "val": "HP:0009068"
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- "val": "HP:0009074"
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- "definition": {
- "val": "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "val": "Muscle atrophy, generalized"
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- "pred": "hasExactSynonym",
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- "val": "Generalised muscle degeneration"
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- {
- "pred": "hasExactSynonym",
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- "val": "Muscle atrophy, generalised"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Muscular atrophy, generalised"
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- {
- "pred": "hasExactSynonym",
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- "val": "Generalized muscle degeneration",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse amyotrophy"
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- {
- "pred": "hasExactSynonym",
- "val": "Diffuse muscle atrophy"
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- {
- "pred": "hasExactSynonym",
- "val": "Diffuse muscle wasting"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized muscle atrophy"
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- {
- "pred": "hasExactSynonym",
- "val": "Muscle atrophy, diffuse"
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- {
- "pred": "hasExactSynonym",
- "val": "Muscular atrophy, generalized"
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- ],
- "xrefs": [
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- "val": "UMLS:C1389113"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003701",
- "lbl": "Proximal muscle weakness",
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- "val": "HP:0003475"
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- "val": "HP:0007195"
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- "val": "HP:0008950"
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- "val": "HP:0008961"
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- "comments": [
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- "definition": {
- "val": "A lack of strength of the proximal muscles.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasRelatedSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Weakness in muscles of upper arms and upper legs",
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- "pred": "hasExactSynonym",
- "val": "Muscle weakness, proximal"
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- {
- "pred": "hasExactSynonym",
- "val": "Proximal limb muscle weakness"
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- {
- "pred": "hasExactSynonym",
- "val": "Proximal limb weakness"
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- "xrefs": [
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- "val": "SNOMEDCT_US:249939004"
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- {
- "val": "UMLS:C0221629"
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- "val": "UMLS:C1838869"
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- "type": "CLASS"
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- "lbl": "Scapuloperoneal weakness",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003707",
- "lbl": "Calf muscle pseudohypertrophy",
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- "comments": [
- "Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions."
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- "definition": {
- "val": "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
- "val": "Pseudohypertrophy of the calves"
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- "val": "UMLS:C1839666"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003710",
- "lbl": "Exercise-induced muscle cramps",
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- "val": "HP:0009000"
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- "definition": {
- "val": "Sudden and involuntary contractions of one or more muscles brought on by physical exertion.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003712",
- "lbl": "Skeletal muscle hypertrophy",
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- "comments": [
- "Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically."
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- "definition": {
- "val": "Abnormal increase in muscle size and mass not due to training.",
- "xrefs": [
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Hypertrophic muscles"
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- "pred": "hasExactSynonym",
- "val": "Muscular hypertrophy"
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- "xrefs": [
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- "val": "UMLS:C2265792"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003713",
- "lbl": "Muscle fiber necrosis",
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- "val": "HP:0003726"
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- ],
- "definition": {
- "val": "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.",
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- "HPO:curators"
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- "synonyms": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003715",
- "lbl": "Myofibrillar myopathy",
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- "comments": [
- "This feature is demonstrated by muscle biopsy."
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- "definition": {
- "val": "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003716",
- "lbl": "Generalized muscular appearance from birth",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0003717",
- "lbl": "Minimal subcutaneous fat",
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- "synonyms": [
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- "type": "CLASS"
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- "lbl": "Muscle mounding",
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- "Transient swelling of muscle induced by percussion (e.g., tapping on muscle with a reflex hammer)."
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- "definition": {
- "val": "Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.",
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- "PMID:20300641"
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- "xrefs": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003720",
- "lbl": "Generalized muscle hypertrophy",
- "meta": {
- "definition": {
- "val": "Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.",
- "xrefs": [
- "HPO:curators"
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- "synonyms": [
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- "val": "Generalised increase in muscle cell size"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003722",
- "lbl": "Neck flexor weakness",
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- ],
- "definition": {
- "val": "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).",
- "xrefs": [
- "HPO:curators"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "xrefs": [
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003724",
- "lbl": "Shoulder girdle muscle atrophy",
- "meta": {
- "definition": {
- "val": "Amyotrophy affecting the muscles of the shoulder girdle.",
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- "val": "Shoulder-girdle muscle atrophy"
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- {
- "pred": "hasExactSynonym",
- "val": "Shoulder girdle atrophy"
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- "xrefs": [
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003725",
- "lbl": "Firm muscles",
- "meta": {
- "xrefs": [
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003729",
- "lbl": "Enteroviral dermatomyositis syndrome",
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- "xrefs": [
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003730",
- "lbl": "EMG: myotonic runs",
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- "comments": [
- "This is a characteristic abnormality seen in the myotonias and periodic paralyses."
- ],
- "definition": {
- "val": "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).",
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- "val": "UMLS:C4025576"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003731",
- "lbl": "Quadriceps muscle weakness",
- "meta": {
- "definition": {
- "val": "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:300948004"
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- "val": "UMLS:C0577655"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003733",
- "lbl": "Thigh hypertrophy",
- "meta": {
- "comments": [
- "Proximal lower limb hypertrophy"
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- "definition": {
- "val": "Muscle hypertrophy affecting the thighs.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased thigh size",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003736",
- "lbl": "Autophagic vacuoles",
- "meta": {
- "definition": {
- "val": "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17027858"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0544966"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003737",
- "lbl": "Mitochondrial myopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008960"
- }
- ],
- "comments": [
- "This is a bundled term that should not be used for future annotations."
- ],
- "definition": {
- "val": "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D017240"
- },
- {
- "val": "SNOMEDCT_US:16851005"
- },
- {
- "val": "UMLS:C0162670"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003738",
- "lbl": "Exercise-induced myalgia",
- "meta": {
- "definition": {
- "val": "The occurrence of an unusually high amount of muscle pain following exercise.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Exercise-induced muscle pain"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle pain on exercise"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle pain with exercise"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle pain, exercise-induced"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850830"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003739",
- "lbl": "Myoclonic spasms",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006963"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806442"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003740",
- "lbl": "Myotonia with warm-up phenomenon",
- "meta": {
- "definition": {
- "val": "Myotonia that occurs after a period of rest and decreases with continuing exercise.",
- "xrefs": [
- "HPO:probinson",
- "PMID:7678441"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025575"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003741",
- "lbl": "Congenital muscular dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003793"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Muscular dystrophy, congenital"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:240059009"
- },
- {
- "val": "UMLS:C0699743"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003743",
- "lbl": "Genetic anticipation",
- "meta": {
- "comments": [
- "This mode of inheritance is characteristic of trinucleotide and some other repeat disorders."
- ],
- "definition": {
- "val": "A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Autosomal dominant with genetic anticipation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020132"
- },
- {
- "val": "UMLS:C0600498"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003744",
- "lbl": "Genetic anticipation with paternal anticipation bias",
- "meta": {
- "definition": {
- "val": "A type of genetic anticipation observed predominantly upon transmission from affected males.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Paternal anticipation bias"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834002"
- },
- {
- "val": "UMLS:C4025574"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003745",
- "lbl": "Sporadic",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001420"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003747"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003769"
- }
- ],
- "definition": {
- "val": "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "No previous family history",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Isolated cases"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853237"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003749",
- "lbl": "Pelvic girdle muscle weakness",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003692"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008999"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009036"
- }
- ],
- "definition": {
- "val": "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hip girdle muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hip girdle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hip-girdle muscle weakness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pelvic girdle weakness"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249941003"
- },
- {
- "val": "UMLS:C0427064"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003750",
- "lbl": "Increased muscle fatiguability",
- "meta": {
- "definition": {
- "val": "An abnormal, increased fatiguability of the musculature.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Muscle fatigue"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018763"
- },
- {
- "val": "SNOMEDCT_US:80449002"
- },
- {
- "val": "UMLS:C0242979"
- },
- {
- "val": "UMLS:C4025573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003752",
- "lbl": "Episodic flaccid weakness",
- "meta": {
- "definition": {
- "val": "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003755",
- "lbl": "Type 1 fibers relatively smaller than type 2 fibers",
- "meta": {
- "comments": [
- "This feature can only be observed on muscle biopsy."
- ],
- "definition": {
- "val": "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type 1 fibres relatively smaller than type 2 fibres"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025571"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003756",
- "lbl": "Skeletal myopathy",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:75047002"
- },
- {
- "val": "UMLS:C1533847"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003758",
- "lbl": "Reduced subcutaneous adipose tissue",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001002"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007409"
- }
- ],
- "definition": {
- "val": "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Reduced fat tissue below the skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased subcutaneous adipose tissue"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased subcutaneous fat"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced subcutaneous fat"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scanty adipose tissue"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:248316006"
- },
- {
- "val": "UMLS:C0424631"
- },
- {
- "val": "UMLS:C1857657"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003759",
- "lbl": "Hypoplasia of lymphatic vessels",
- "meta": {
- "comments": [
- "This feature can be demonstrated by lymphography."
- ],
- "definition": {
- "val": "Congenital underdevelopment of lymph vessels.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped lymphatic vessels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025570"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003760",
- "lbl": "Percussion-induced rapid rolling muscle contractions",
- "meta": {
- "definition": {
- "val": "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4280804"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003761",
- "lbl": "Calcinosis",
- "meta": {
- "definition": {
- "val": "Formation of calcium deposits in any soft tissue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Calcium buildup in soft tissues of body",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002114"
- },
- {
- "val": "SNOMEDCT_US:6595006"
- },
- {
- "val": "UMLS:C0006663"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003762",
- "lbl": "Uterus didelphys",
- "meta": {
- "definition": {
- "val": "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Double uterus"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:15545001"
- },
- {
- "val": "SNOMEDCT_US:22504001"
- },
- {
- "val": "UMLS:C0152240"
- },
- {
- "val": "UMLS:C0266393"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003763",
- "lbl": "Bruxism",
- "meta": {
- "definition": {
- "val": "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:29926505"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Teeth grinding",
- "xrefs": [
- "ORCID:0000-0002-0736-9199"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002012"
- },
- {
- "val": "SNOMEDCT_US:191983006"
- },
- {
- "val": "SNOMEDCT_US:90207007"
- },
- {
- "val": "UMLS:C0006325"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003764",
- "lbl": "Nevus",
- "meta": {
- "comments": [
- "The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole."
- ],
- "definition": {
- "val": "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mole",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Naevus"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Naevi"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nevi"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D009506"
- },
- {
- "val": "MSH:D009508"
- },
- {
- "val": "SNOMEDCT_US:21119008"
- },
- {
- "val": "SNOMEDCT_US:400096001"
- },
- {
- "val": "SNOMEDCT_US:51697005"
- },
- {
- "val": "UMLS:C0027960"
- },
- {
- "val": "UMLS:C0027962"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003765",
- "lbl": "Psoriasiform dermatitis",
- "meta": {
- "comments": [
- "The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations)."
- ],
- "definition": {
- "val": "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Psoriasis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D011565"
- },
- {
- "val": "SNOMEDCT_US:9014002"
- },
- {
- "val": "UMLS:C0033860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003768",
- "lbl": "Periodic paralysis",
- "meta": {
- "definition": {
- "val": "Episodes of muscle weakness.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Episodic paralysis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:198030008"
- },
- {
- "val": "UMLS:C1279412"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003771",
- "lbl": "Pulp calcification",
- "meta": {
- "definition": {
- "val": "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pulp stones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulpoliths"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulp calcifications",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulp denticles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "False denticles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "False pulp stones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "True denticles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "True pulp stones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003784"
- },
- {
- "val": "SNOMEDCT_US:57602001"
- },
- {
- "val": "UMLS:C1527284"
- },
- {
- "val": "UMLS:C4280259"
- },
- {
- "val": "UMLS:C4280546"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003774",
- "lbl": "Stage 5 chronic kidney disease",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000101"
- },
- {
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- "val": "HP:0004720"
- },
- {
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- "val": "HP:0004725"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004733"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004738"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005570"
- }
- ],
- "comments": [
- "Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease."
- ],
- "definition": {
- "val": "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stage 5 chronic kidney disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Renal failure, endstage",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chronic renal failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "End stage renal disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "End stage renal failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "End-stage renal disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "End-stage renal failure",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:433146000"
- },
- {
- "val": "UMLS:C2316810"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003777",
- "lbl": "Pili torti",
- "meta": {
- "definition": {
- "val": "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened and twisted hair",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562485"
- },
- {
- "val": "SNOMEDCT_US:17170005"
- },
- {
- "val": "UMLS:C0263491"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003778",
- "lbl": "Short mandibular rami",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005447"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Short body and ramus of mandible"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short mandibular ramus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped mandibular rami"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decreased size of mandibular ramus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Decreased height of mandibular ramus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1841648"
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- {
- "val": "UMLS:C4280545"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003779",
- "lbl": "Antegonial notching of mandible",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Deep antegonial notch of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large antegonial notch of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844509"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003781",
- "lbl": "Excessive salivation",
- "meta": {
- "definition": {
- "val": "Excessive production of saliva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive salivation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mouth watering"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Watery mouth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Oversalivation",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Excessive production of saliva"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypersalivation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ptyalism"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012798"
- },
- {
- "val": "SNOMEDCT_US:275295002"
- },
- {
- "val": "SNOMEDCT_US:53827007"
- },
- {
- "val": "SNOMEDCT_US:62718007"
- },
- {
- "val": "UMLS:C0013132"
- },
- {
- "val": "UMLS:C0037036"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003782",
- "lbl": "Eunuchoid habitus",
- "meta": {
- "definition": {
- "val": "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025569"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003783",
- "lbl": "obsolete Externally rotated/abducted legs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0008796"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003784",
- "lbl": "Type 1 collagen overmodification",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1970463"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003785",
- "lbl": "Decreased CSF homovanillic acid concentration",
- "meta": {
- "definition": {
- "val": "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.",
- "xrefs": [
- "KI:phemming",
- "PMID:12615172"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4280803"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003787",
- "lbl": "Type 1 and type 2 muscle fiber minicore regions",
- "meta": {
- "definition": {
- "val": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type 1 and type 2 muscle fibre minicore regions"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003789",
- "lbl": "Minicore myopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003804"
- }
- ],
- "definition": {
- "val": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C564969"
- },
- {
- "val": "UMLS:C1850674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003791",
- "lbl": "Deposits immunoreactive to beta-amyloid protein",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1853934"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003795",
- "lbl": "Short middle phalanx of toe",
- "meta": {
- "definition": {
- "val": "Developmental hypoplasia (shortening) of middle phalanx of toe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short middle bones (feet)",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short middle phalanges of toes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021723"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003796",
- "lbl": "Irregular iliac crest",
- "meta": {
- "definition": {
- "val": "Irregularity of the iliac crest, which is the superior border of the wing of the ilium.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1855180"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003797",
- "lbl": "Limb-girdle muscle atrophy",
- "meta": {
- "definition": {
- "val": "Muscular atrophy affecting the muscles of the limb girdle.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wasting of limb-girdle muscle",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Limb-girdle myopathy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1404521"
- },
- {
- "val": "UMLS:C1842552"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003798",
- "lbl": "Nemaline bodies",
- "meta": {
- "comments": [
- "This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23)."
- ],
- "definition": {
- "val": "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.",
- "xrefs": [
- "HPO:curators",
- "PMID:11333380"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nemaline rods"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3808039"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003799",
- "lbl": "Marked delay in bone age",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005742"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005843"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Marked delay in bone age"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Markedly retarded bone age"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Marked retardation in skeletal maturation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868549"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003800",
- "lbl": "Muscle abnormality related to mitochondrial dysfunction",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025566"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003803",
- "lbl": "Type 1 muscle fiber predominance",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003721"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003807"
- }
- ],
- "comments": [
- "This finding is demonstrated by muscle biopsy."
- ],
- "definition": {
- "val": "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type 1 muscle fibre predominance"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Type I muscle fibre predominance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type I muscle fiber predominance"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854387"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003805",
- "lbl": "Rimmed vacuoles",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009029"
- }
- ],
- "comments": [
- "Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers."
- ],
- "definition": {
- "val": "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Rimmed vacuoles on biopsy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853932"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003808",
- "lbl": "Abnormal muscle tone",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal muscle tone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0852413"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003809",
- "lbl": "Reduced intrathoracic adipose tissue",
- "meta": {
- "definition": {
- "val": "An abnormally reduced amount of adipose tissue in the thoracic cavity."
- },
- "xrefs": [
- {
- "val": "UMLS:C1837797"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003810",
- "lbl": "Late-onset distal muscle weakness",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003728"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025565"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003811",
- "lbl": "Neonatal death",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003820"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003824"
- }
- ],
- "definition": {
- "val": "Death within the first 28 days of life.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Neonatal lethal"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D066087"
- },
- {
- "val": "SNOMEDCT_US:276506001"
- },
- {
- "val": "UMLS:C0410916"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003812",
- "lbl": "Phenotypic variability",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003813"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003815"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003821"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003822"
- }
- ],
- "comments": [
- "This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO."
- ],
- "definition": {
- "val": "A variability of phenotypic features.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Highly variable clinical phenotype"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Highly variable phenotype"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Highly variable phenotype and severity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Highly variable phenotype, even within families"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Variable phenotype"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Variable phenotypic severity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Clinical heterogeneity",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837514"
- },
- {
- "val": "UMLS:C1839039"
- },
- {
- "val": "UMLS:C1850667"
- },
- {
- "val": "UMLS:C1866210"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003819",
- "lbl": "Death in childhood",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0001432"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004149"
- }
- ],
- "comments": [
- "previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "Death in during childhood, defined here as between the ages of 2 and 10 years.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Death in childhood"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843392"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003826",
- "lbl": "Stillbirth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001624"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001625"
- }
- ],
- "comments": [
- "The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges."
- ],
- "definition": {
- "val": "Death of the fetus in utero after at least 22 weeks of gestation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stillbirth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stillborn"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fetal death"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Foetal death"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Late fetal death"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Fetal demise"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005313"
- },
- {
- "val": "MSH:D050497"
- },
- {
- "val": "SNOMEDCT_US:237364002"
- },
- {
- "val": "SNOMEDCT_US:276507005"
- },
- {
- "val": "UMLS:C0015927"
- },
- {
- "val": "UMLS:C0595939"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003828",
- "lbl": "Variable expressivity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003814"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003825"
- }
- ],
- "comments": [
- "This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO."
- ],
- "definition": {
- "val": "A variable severity of phenotypic features.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Variable severity"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Highly variable severity",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861403"
- },
- {
- "val": "UMLS:C1866862"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003829",
- "lbl": "Typified by incomplete penetrance",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003830"
- }
- ],
- "comments": [
- "For example, Van der Woude syndrome due to IRF6 causes cleft lip and/or palate with penetrance estimated at 80%, and C9orf72 causes frontotemporal dementia and/or amyotrophic lateral sclerosis with approximately 50% penetrance."
- ],
- "definition": {
- "val": "Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Incomplete penetrance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced penetrance"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836598"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003831",
- "lbl": "Typified by age-related disease onset",
- "meta": {
- "definition": {
- "val": "Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Age dependent penetrance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Age-dependent penetrance"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Typified by age-related penetrance"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835978"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003832",
- "lbl": "Abnormality of the tibial plateaux",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003833",
- "lbl": "Laterally deficient tibial plateaux",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025563"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003834",
- "lbl": "Shoulder dislocation",
- "meta": {
- "definition": {
- "val": "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shoulder dislocation"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012783"
- },
- {
- "val": "SNOMEDCT_US:125615005"
- },
- {
- "val": "SNOMEDCT_US:417076003"
- },
- {
- "val": "UMLS:C0037005"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003835",
- "lbl": "Shoulder subluxation",
- "meta": {
- "definition": {
- "val": "A partial dislocation of the shoulder joint.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial shoulder dislocation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:263051004"
- },
- {
- "val": "UMLS:C0434744"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003836",
- "lbl": "Stippled calcification of the shoulder",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025562"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003837",
- "lbl": "Soft-tissue ossification around the shoulders",
- "meta": {
- "definition": {
- "val": "Formation of calcified tissue in the soft tissues surrounding the shoulder.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Calcification of the soft-tissue around the shoulders",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025561"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003839",
- "lbl": "Abnormality of upper limb epiphysis morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003845"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of end part of upper limb long bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality involving the epiphyses of the upper limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epihyseal plate abnormality of the upper limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021722"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003840",
- "lbl": "Delayed upper limb epiphyseal ossification",
- "meta": {
- "definition": {
- "val": "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed maturation fo the end part of the upper limb bone",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025560"
- },
- {
- "val": "UMLS:C4280544"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003841",
- "lbl": "Fragmented epiphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fragmented end part of upper limb bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025559"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003842",
- "lbl": "Irregular epiphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular end part of upper limb bones",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025558"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003843",
- "lbl": "Round epiphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round end part of upper limb bones",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025557"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003844",
- "lbl": "Small epiphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small end part of upper limb bones",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025556"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003846",
- "lbl": "Wide epiphyseal plates of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad growth plates of upper limbs",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad epiphyseal plates of the upper limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020913"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003848",
- "lbl": "Cupped metaphyses of the upper limbs",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupped wide portion of the upper limb bone",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025555"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003849",
- "lbl": "Flared upper limb metaphysis",
- "meta": {
- "definition": {
- "val": "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flared wide portion of the upper limb bone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Flared metaphyses of the upper limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021721"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003850",
- "lbl": "Upper-limb metaphyseal irregularity",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular wide portion of upper limb bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular metaphyses of the upper limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021720"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003851",
- "lbl": "Lytic defects in metaphyses of the upper limbs",
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- {
- "val": "UMLS:C4025554"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003852",
- "lbl": "Normal density transverse bands in metaphyses of the upper limbs",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025553"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003853",
- "lbl": "Sclerosis with transverse striations in metaphyses of the upper limbs",
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- },
- "type": "CLASS"
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- "lbl": "Sclerosis of metaphyses of the upper limbs",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in wide portion of the upper limb bones",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025551"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003855",
- "lbl": "Spurred metaphyses of the upper limbs",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spurred wide portion of upper limb bone",
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- "ORCID:0000-0001-5208-3432"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003856",
- "lbl": "Upper limb metaphyseal widening",
- "meta": {
- "definition": {
- "val": "Increased width (breadth) of metaphyses of the arms.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Broad wide portion of upper limb bone",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide/broad metaphyses of the upper limbs"
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- ],
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- {
- "val": "UMLS:C4021719"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003858",
- "lbl": "Cortical diaphyseal irregularity of the upper limbs",
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- "val": "UMLS:C4025549"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003859",
- "lbl": "Cortical diaphyseal thickening of the upper limbs",
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- "xrefs": [
- {
- "val": "UMLS:C4025548"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003860",
- "lbl": "Diaphyseal sclerosis of the upper limbs",
- "meta": {
- "definition": {
- "val": "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in central part of long bone of upper limbs",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025547"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003861",
- "lbl": "Broad diaphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad shaft of long bone of the upper limbs",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide shaft of long bone of the upper limbs",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide diaphyses of the upper limbs"
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- ],
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003862",
- "lbl": "Absent humerus",
- "meta": {
- "definition": {
- "val": "Missing humerus bone associated with congenital failure of development.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplasia of the humerus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic humerus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2678399"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003863",
- "lbl": "Angulated humerus",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Angulated long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025546"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003864",
- "lbl": "Bifid humerus",
- "meta": {
- "definition": {
- "val": "Clefting affecting the humerus.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025545"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003865",
- "lbl": "Bowed humerus",
- "meta": {
- "definition": {
- "val": "A bending or abnormal curvature of the humerus.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bowing of the humerus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Humeral bowing"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859460"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003866",
- "lbl": "Coarse humeral trabeculae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025544"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003867",
- "lbl": "Humeral cortical irregularity",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025543"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003868",
- "lbl": "Humeral cortical thickening",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025542"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003869",
- "lbl": "Humeral cortical thinning",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025541"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003870",
- "lbl": "Crumpled humerus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003873"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crumpled long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- ],
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- {
- "val": "UMLS:C4025540"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003871",
- "lbl": "Deformed humerus",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Deformed long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025539"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003872",
- "lbl": "Humeral exostoses",
- "meta": {
- "definition": {
- "val": "Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003874",
- "lbl": "Humerus varus",
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- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003875",
- "lbl": "Humeral lytic defects",
- "meta": {
- "comments": [
- "Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone."
- ],
- "definition": {
- "val": "Destruction of an area of humerus bone due to a disease process, such as cancer."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lytic defects of the humerus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025536"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003876",
- "lbl": "Osteoporotic humerus",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025535"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003877",
- "lbl": "Oval transradiancy of humerus",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Humeral oval transradiancy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003878",
- "lbl": "Periosteal new bone of humerus",
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- "xrefs": [
- {
- "val": "UMLS:C4025533"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003879",
- "lbl": "Humeral pseudarthrosis",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "False joint (long bone in upper arm)",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003880",
- "lbl": "Sclerotic foci of the humerus",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Humeral sclerotic foci"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021717"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003881",
- "lbl": "Humeral sclerosis",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerosis of humerus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021716"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003882",
- "lbl": "Slender humerus",
- "meta": {
- "definition": {
- "val": "Reduction in diameter of the humerus.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender long bone of upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021851"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003883",
- "lbl": "Tapered humerus",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapered long bone of upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025531"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003884",
- "lbl": "Triangular humerus",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triangular long bone of upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025530"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003885",
- "lbl": "Undermodeled humerus",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025529"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003886",
- "lbl": "Wide humerus",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide long bone of upper arm",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad humerus"
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- ],
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- {
- "val": "UMLS:C4021715"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003887",
- "lbl": "Abnormal humeral head morphology",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal head of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the humeral heads"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003888",
- "lbl": "Flattened humeral heads",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattended head of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3808869"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003889",
- "lbl": "Abnormal deltoid tuberosity morphology",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the deltoid tuberosities"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025527"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003890",
- "lbl": "Prominent deltoid tuberosities",
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- "val": "UMLS:C2674600"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003891",
- "lbl": "Abnormality of the humeral epiphysis",
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- "definition": {
- "val": "An anomaly of the humeral epiphysis.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of end part of the long bone of the upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the humeral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021714"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003892",
- "lbl": "Absent humeral epiphyseal ossification",
- "meta": {
- "comments": [
- "Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation."
- ],
- "definition": {
- "val": "Lack of formation of bone in the epiphysis of the humerus.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Absent maturation of end part of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent ossification of the humeral epiphyses"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021713"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003893",
- "lbl": "Advanced ossification of the humeral epiphysis",
- "meta": {
- "definition": {
- "val": "Ossification of the humeral epiphysis at an earlier age than normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accelerated maturation of end part of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Advanced maturation of the humeral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020836"
- },
- {
- "val": "UMLS:C4025526"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003894",
- "lbl": "Delayed humeral epiphyseal ossification",
- "meta": {
- "definition": {
- "val": "A delay in the process of formation and maturation of the humeral epiphysis.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
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- "val": "Delayed maturation of the end part of the long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed maturation/delayed ossification of the humeral epiphyses"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021712"
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- {
- "val": "UMLS:C4280543"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003895",
- "lbl": "Flattened humeral epiphyses",
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- {
- "pred": "hasExactSynonym",
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- "val": "Flattened end part of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025525"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0003896",
- "lbl": "Irregular humeral epiphyses",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular end part of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025524"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003897",
- "lbl": "Irregular ossification of the humeral epiphyses",
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- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular maturation of the end part of the long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025523"
- },
- {
- "val": "UMLS:C4280542"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003898",
- "lbl": "Large humeral epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large end part of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025522"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003899",
- "lbl": "Round humeral epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round end part of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025521"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003900",
- "lbl": "Small humeral epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small end part of long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025520"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003901",
- "lbl": "Stippled calcification of the humeral epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025519"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003902",
- "lbl": "Epiphyseal stippling of the humerus",
- "meta": {
- "definition": {
- "val": "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Stippled ossification of the humeral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021711"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003903",
- "lbl": "Broad humeral epiphyses",
- "meta": {
- "definition": {
- "val": "Increased width of the humeral epiphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide end part of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide humeral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021710"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003904",
- "lbl": "Wide epiphyses of the upper limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide end part of upper limb bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad epiphyses of the upper limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021709"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003905",
- "lbl": "Abnormality of the humeral epiphyseal plate",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of arm long bone growth plate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025518"
- },
- {
- "val": "UMLS:C4280541"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003906",
- "lbl": "Broad humeral epiphyseal plate",
- "meta": {
- "definition": {
- "val": "Increased width of the humeral epiphyseal growth plate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide long bone of arm growth plate",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide humeral epiphyseal plate"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021708"
- },
- {
- "val": "UMLS:C4280540"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003907",
- "lbl": "Abnormal humeral metaphysis morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the wide portion of the long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the humeral metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025517"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003908",
- "lbl": "Corner fracture of metaphysis",
- "meta": {
- "comments": [
- "A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure."
- ],
- "definition": {
- "val": "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.",
- "xrefs": [
- "PMID:15206413",
- "PMID:20544318"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bucket handle fracture"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metaphyseal corner fracture"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025516"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003909",
- "lbl": "Cortical subperiosteal resorption of humeral metaphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025515"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003910",
- "lbl": "Enlarged humeral metaphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged wide portion of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Expanded humeral metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021707"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003911",
- "lbl": "Flared humeral metaphysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003925"
- }
- ],
- "definition": {
- "val": "Flaring (increase of width with a splayed appearance) of the humeral metaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flared wide portion of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide/broad humeral metaphysis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Flared humerus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020835"
- },
- {
- "val": "UMLS:C4020912"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003912",
- "lbl": "Frayed humeral metaphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025514"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003913",
- "lbl": "Humeral metaphyseal irregularity",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular wide portion of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular humeral metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003914",
- "lbl": "Irregular ossification of humeral metaphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular bone maturation of the wide portion of the long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025513"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003915",
- "lbl": "Lytic defects of the humeral metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003916",
- "lbl": "Normal-density transverse humeral bands",
- "meta": {
- "comments": [
- "Normal-density transverse bands of the humerus"
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025511"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003917",
- "lbl": "Pointed humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed wide portion of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025510"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003918",
- "lbl": "Sclerotic humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hardening of wide portion of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stiffening of wide portion of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025509"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003919",
- "lbl": "Sclerotic humeral metaphysis with longitudinal striations",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025508"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003920",
- "lbl": "Sloping humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sloping metaphysis of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025507"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003921",
- "lbl": "Laterally sloping humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Laterally sloping metaphysis of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025506"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003922",
- "lbl": "Spurred humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spurred metaphysis of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025505"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003923",
- "lbl": "Square humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Square metaphysis of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025504"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003924",
- "lbl": "Stippled calcification of humeral metaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speckled calcification in metaphysis of long bone of upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025503"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003926",
- "lbl": "Abnormal humeral diaphysis morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the humeral diaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of shaft of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the humeral diaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025502"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003927",
- "lbl": "Cortical irregularity of humeral diaphysis",
- "meta": {
- "definition": {
- "val": "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025501"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003928",
- "lbl": "Cortical thickening of humeral diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025500"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003929",
- "lbl": "Ground glass opacity of humeral diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025499"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003930",
- "lbl": "Lytic defects of humeral diaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Humeral diaphyseal lysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021705"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003931",
- "lbl": "Periosteal new bone of humeral diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025498"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003932",
- "lbl": "Sclerotic foci of humeral diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025497"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003933",
- "lbl": "Sclerosis of humeral diaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in shaft of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003934",
- "lbl": "Slender humeral diaphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender shaft of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025495"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003935",
- "lbl": "Wide humeral diaphysis",
- "meta": {
- "definition": {
- "val": "Increased width of the humeral diaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad shaft of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide shaft of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad humeral diaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021704"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003938",
- "lbl": "Synostosis involving the elbow",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone fusion involving the elbow",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025494"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003939",
- "lbl": "Humeroulnar synostosis",
- "meta": {
- "definition": {
- "val": "An abnormal osseous union (fusion) between the ulna and the humerus.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Humeral ulnar synostosis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205330003"
- },
- {
- "val": "UMLS:C0431799"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003940",
- "lbl": "Osteoarthritis of the elbow",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:239866002"
- },
- {
- "val": "UMLS:C0409954"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003941",
- "lbl": "Stippled calcification of the elbow",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025493"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003942",
- "lbl": "Synovial chondromatosis of the elbow",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025492"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003943",
- "lbl": "Abnormality of the joint spaces of the elbow",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the joint spaces of the elbow"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025491"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003944",
- "lbl": "Narrow joint spaces of the elbow",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow joint spaces of the elbow"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025490"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003945",
- "lbl": "Irregular articular surfaces of the elbow joints",
- "meta": {
- "xrefs": [
- {
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- "lbl": "Absent forearm bone",
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- "lbl": "Undermodelled forearm bones",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004992"
- }
- ],
- "definition": {
- "val": "An injury of the wrist with displacement of any of the eight carpal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocated wrist"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocations of the wrists"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10013184"
- },
- {
- "val": "SNOMEDCT_US:125618007"
- },
- {
- "val": "UMLS:C0159941"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003995",
- "lbl": "Abnormality of the radial head",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Deformity of radial heads"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021696"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003996",
- "lbl": "Flattened radial head",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025459"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003997",
- "lbl": "Hypoplastic radial head",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Small radial head"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021695"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003998",
- "lbl": "Constricted radial neck",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025458"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0003999",
- "lbl": "Abnormality of radial epiphyses",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004011"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of radial epiphyseal plates"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021694"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004000",
- "lbl": "Cone-shaped distal radial epiphysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003975"
- }
- ],
- "comments": [
- "The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous."
- ],
- "definition": {
- "val": "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Chevron-shaped distal radial epiphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025457"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004001",
- "lbl": "Medially deficient radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025456"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004002",
- "lbl": "Flattened radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025455"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004003",
- "lbl": "Medially flattened radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025454"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004004",
- "lbl": "Irregular radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025453"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004005",
- "lbl": "Large radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025452"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004006",
- "lbl": "Round radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025451"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004007",
- "lbl": "Sclerotic radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025450"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004008",
- "lbl": "Sloping radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025449"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004009",
- "lbl": "Medially sloping radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025448"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004010",
- "lbl": "Small radial epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025447"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004012",
- "lbl": "Premature fusion of the radial epiphyseal plates",
- "meta": {
- "comments": [
- "The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis)."
- ],
- "definition": {
- "val": "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025446"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004013",
- "lbl": "Medially fused radial epiphyseal plates",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025445"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004014",
- "lbl": "Broad radial epiphyseal plate",
- "meta": {
- "definition": {
- "val": "Abnormal increase in width of the epiphyseal growth plate of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Wide radial epiphyseal plates"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021693"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004015",
- "lbl": "Abnormal radial metaphysis morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of radial metaphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025444"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004016",
- "lbl": "Cupped radial metaphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025443"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004017",
- "lbl": "Exostoses of the radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025442"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004018",
- "lbl": "Flared radial metaphysis",
- "meta": {
- "definition": {
- "val": "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Broadening of the distal radius"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025441"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004019",
- "lbl": "Radial metaphyseal irregularity",
- "meta": {
- "definition": {
- "val": "Irregularity of the normally smooth surface of the metaphysis of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular radial metaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021692"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004020",
- "lbl": "Irregular ossification of the radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025440"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004021",
- "lbl": "Lytic defects of radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025439"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004022",
- "lbl": "Sclerotic radial metaphysis with longitudinal striations",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025438"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004023",
- "lbl": "Sloping radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025437"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004024",
- "lbl": "Medially sloping radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025436"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004025",
- "lbl": "Spurred radial metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025435"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004026",
- "lbl": "Broad radial metaphysis",
- "meta": {
- "definition": {
- "val": "Increase in width (breadth) of the radial metaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Wide radial metaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021691"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004027",
- "lbl": "Abnormality of radial diaphysis",
- "meta": {
- "definition": {
- "val": "An anomaly of the radial diaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025434"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004028",
- "lbl": "Spurs of radial diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025433"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004029",
- "lbl": "Lytic defects of radial diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025432"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004030",
- "lbl": "Patchy sclerosis of radial diaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025431"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004031",
- "lbl": "Broad radial diaphysis",
- "meta": {
- "comments": [
- "Increased diameter of the shaft (diaphysis) of the radius."
- ],
- "definition": {
- "val": "Increase in width of the diaphysis of radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Wide radial diaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021690"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004032",
- "lbl": "Abnormal olecranon morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the olecranon, a bony eminence of the proximal ulna."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the olecranon"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025430"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004033",
- "lbl": "Curved olecranon",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025429"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004034",
- "lbl": "Irregular olecranon",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025428"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004035",
- "lbl": "Abnormal ulnar styloid process morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the styloid process of ulna"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025427"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004036",
- "lbl": "Long styloid process of ulna",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025426"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004037",
- "lbl": "Abnormal ulnar epiphysis morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiphyseal plate of the ulna"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the ulnar epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021689"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004038",
- "lbl": "obsolete Bony spicule of ulnar epiphyseal plate",
- "meta": {
- "comments": [
- "obsoleted on July 11, 2019."
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004039",
- "lbl": "Abnormal ulnar metaphysis morphology",
- "meta": {
- "definition": {
- "val": "Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of ulnar metaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025424"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004040",
- "lbl": "Corner fragments of ulnar metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025423"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004041",
- "lbl": "Cupped ulnar metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025422"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004042",
- "lbl": "Ulnar metaphyseal irregularity",
- "meta": {
- "definition": {
- "val": "Irregularity of the normally smooth surface of the metaphysis of the ulna.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular ulnar metaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021688"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004043",
- "lbl": "Lytic defects of ulnar metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004044",
- "lbl": "Pointed ulnar metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025420"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004045",
- "lbl": "Sloping ulnar metaphysis",
- "meta": {
- "definition": {
- "val": "A sloped configuration of the metaphysis (shaft) of the ulna.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025419"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004046",
- "lbl": "Spurred ulnar metaphysis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025418"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004047",
- "lbl": "Wide ulnar metaphysis",
- "meta": {
- "definition": {
- "val": "Increase in width (breadth) of the ulnar metaphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Broad ulnar metaphysis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021687"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004048",
- "lbl": "Narrow joint spaces of wrist",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025417"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004049",
- "lbl": "Decreased carpal angles of wrist",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025416"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004050",
- "lbl": "Absent hand",
- "meta": {
- "definition": {
- "val": "The total absence of the hand, with no bony elements distal to the radius or ulna.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Acheiria"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:371199008"
- },
- {
- "val": "UMLS:C0265594"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004051",
- "lbl": "Advanced ossification of the hand bones",
- "meta": {
- "definition": {
- "val": "Ossification of hand bones at an earlier age than normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accelerated maturation of hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Advanced maturation of the hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004052",
- "lbl": "Delayed ossification of the hand bones",
- "meta": {
- "definition": {
- "val": "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed maturation of the hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delay maturation/delayed ossification of the hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020833"
- },
- {
- "val": "UMLS:C4021686"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004053",
- "lbl": "Dysharmonic maturation of the hand bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006204"
- }
- ],
- "definition": {
- "val": "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Disharmonic maturation of the hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysharmonic ossification of the hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021685"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004054",
- "lbl": "Sclerosis of hand bone",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004055"
- }
- ],
- "definition": {
- "val": "Osteosclerosis affecting one or more bones of the hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised sclerosis of hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in hand bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized sclerosis of hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hand bone sclerosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased bone density in hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021684"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004057",
- "lbl": "Mitten deformity",
- "meta": {
- "comments": [
- "Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly."
- ],
- "definition": {
- "val": "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20301304"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pseudosyndactyly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969236"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004058",
- "lbl": "Hand monodactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025415"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004059",
- "lbl": "Radial club hand",
- "meta": {
- "definition": {
- "val": "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.",
- "xrefs": [
- "HPO:probinson",
- "PMID:28603568"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025414"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004060",
- "lbl": "Trident hand",
- "meta": {
- "comments": [
- "This abnormality is often seen in patients with achondroplasia."
- ],
- "definition": {
- "val": "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "trident abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "trident deformity"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249755001"
- },
- {
- "val": "UMLS:C0426874"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004066",
- "lbl": "obsolete Laterally deviated thumb phalanges",
- "meta": {
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- "val": "HP:0009602"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004083",
- "lbl": "obsolete Laterally deviated terminal thumb phalanx",
- "meta": {
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- "val": "HP:0005895"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004090",
- "lbl": "obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0009662"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004095",
- "lbl": "Curved fingers",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved fingers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025413"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004097",
- "lbl": "Deviation of finger",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006229"
- }
- ],
- "definition": {
- "val": "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Finger pointing in a different direction than usual"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Atypical position of finger",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deviated fingers"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:203556007"
- },
- {
- "val": "SNOMEDCT_US:26517000"
- },
- {
- "val": "UMLS:C0410740"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004099",
- "lbl": "Macrodactyly",
- "meta": {
- "comments": [
- "There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width."
- ],
- "definition": {
- "val": "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Finger overgrowth",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Megalodactyly"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10025386"
- },
- {
- "val": "MSH:C562546"
- },
- {
- "val": "SNOMEDCT_US:48449000"
- },
- {
- "val": "UMLS:C0265552"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004100",
- "lbl": "Abnormal 2nd finger morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the second finger, also known as the index finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of index finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the 2nd finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021683"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004110",
- "lbl": "obsolete Radially deviated index finger phalanges",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0009542"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004112",
- "lbl": "Midline nasal groove",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2009-01-21T04:59:08Z"
- }
- ],
- "definition": {
- "val": "An abnormal groove on the midline of the nose that may extend to the nasal tip.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Midline nasal groove"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Central nasal groove",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025412"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004121",
- "lbl": "obsolete Radially displaced proximal index finger phalanx",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0009544"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004122",
- "lbl": "Midline defect of the nose",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
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- "val": "2009-01-21T04:59:54Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003190"
- }
- ],
- "definition": {
- "val": "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Midline defect of the nose"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Central cleft of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Midline cleft of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Central defect of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Central nasal defect",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Midline nasal defect",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025411"
- },
- {
- "val": "UMLS:C4280539"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004132",
- "lbl": "Dimple on nasal tip",
- "meta": {
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- "val": "peter"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2009-01-21T05:05:55Z"
- }
- ],
- "definition": {
- "val": "An abnormal indentation of the skin in the region of the nasal tip.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dimple on nasal tip"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dimpled tip of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863349"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004138",
- "lbl": "obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger",
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004139",
- "lbl": "obsolete Flared metaphysis of middle phalanx of index finger",
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- "val": "HP:0009569"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004143",
- "lbl": "obsolete Radially deviated terminal index finger phalanx",
- "meta": {
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004144",
- "lbl": "obsolete Duplication of terminal index finger phalanx",
- "meta": {
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- "val": "HP:0009948"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004150",
- "lbl": "Abnormal 3rd finger morphology",
- "meta": {
- "definition": {
- "val": "An anomaly of the third finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the 3rd finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the middle finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021682"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004153",
- "lbl": "obsolete Overgrowth of middle finger",
- "meta": {
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- "val": "HP:0009316"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004157",
- "lbl": "obsolete Accessory middle-finger phalanges",
- "meta": {
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0009963"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004161",
- "lbl": "obsolete Periosteal new bone of middle finger phalanges",
- "meta": {
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- "val": "HP:0009316"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004162",
- "lbl": "obsolete Radially pointed middle finger phalanges",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004168",
- "lbl": "obsolete Radially pointed proximal middle-finger phalanx",
- "meta": {
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- "val": "HP:0009316"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004172",
- "lbl": "Abnormality of the middle phalanx of the 3rd finger",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal middle finger bone of the middle finger",
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- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025410"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004174",
- "lbl": "obsolete Accessory middle phalanx of middle finger",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004175",
- "lbl": "obsolete Periosteal new bone of middle phalanx of middle-finger",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004180",
- "lbl": "Short distal phalanx of the 3rd finger",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004182"
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- ],
- "definition": {
- "val": "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.",
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- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Short outermost bone of the middle finger",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/small distal phalanx of the 3rd finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short distal phalanx of the third finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short terminal phalanx of middle finger"
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- ],
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- {
- "val": "UMLS:C4021681"
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- ]
- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004183",
- "lbl": "obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger",
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- "lbl": "obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger",
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- "lbl": "obsolete Fused epiphysis of terminal phalanx of the middle finger",
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- "lbl": "obsolete Large epiphysis of terminal phalanx of the middle finger",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004187",
- "lbl": "obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004188",
- "lbl": "Abnormal 4th finger morphology",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the 4th finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the ring finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021680"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004192",
- "lbl": "obsolete Bracket epiphyses of the 4th finger",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004193",
- "lbl": "obsolete Expanded phalanges of the ring finger",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004194",
- "lbl": "obsolete Hypoplastic phalanges of the ring finger",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004195",
- "lbl": "Osteolytic defects of the phalanges of the 4th finger",
- "meta": {
- "definition": {
- "val": "Osteolytic defects of the phalanges of the 4th (ring) finger.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Lytic defects of the phalanges of the ring finger"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4020832"
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- {
- "val": "UMLS:C4025409"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004196",
- "lbl": "obsolete Short phalanges of the ring finger",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004197",
- "lbl": "Symphalangism of the 4th finger",
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- "definition": {
- "val": "Fusion of two or more bones of the 4th finger.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Fused ring finger bones",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Symphalangism of the ring finger"
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- "val": "UMLS:C4021679"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004198",
- "lbl": "obsolete Wide/broad phalanges of the ring finger",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004201",
- "lbl": "obsolete Expanded proximal phalanx of the ring finger",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004202",
- "lbl": "obsolete Lytic defects of the proximal phalanx of the ring finger",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004203",
- "lbl": "obsolete Short proximal phalanx of the ring finger",
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004207",
- "lbl": "Abnormal 5th finger morphology",
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- "definition": {
- "val": "An abnormality affecting one or both 5th fingers.",
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- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pinkie finger",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the pinky finger",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the 5th finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004209",
- "lbl": "Clinodactyly of the 5th finger",
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- "val": "HP:0001588"
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- "val": "HP:0004212"
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- "comments": [
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- "definition": {
- "val": "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).",
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- "synonyms": [
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- "pred": "hasBroadSynonym",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Permanent curving of the pinkie finger",
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- "orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral fifth digit clinodactyly"
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- "pred": "hasExactSynonym",
- "val": "Bilateral fifth finger clinodactyly"
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- "pred": "hasExactSynonym",
- "val": "Clinodactyly of fifth digit"
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- "pred": "hasExactSynonym",
- "val": "Clinodactyly of the little finger"
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- "pred": "hasExactSynonym",
- "val": "Fifth finger clinodactyly"
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- "val": "UMLS:C1850049"
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- "val": "UMLS:C4280538"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004213",
- "lbl": "Abnormal 5th finger phalanx morphology",
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- "definition": {
- "val": "Abnormality of the phalanges of the 5th (little) finger.",
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- "HPO:sdoelken"
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- },
- "synonyms": [
- {
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- "val": "Abnormality of the little finger bone",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the pinkie finger bone",
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- "pred": "hasExactSynonym",
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- "val": "Abnormality of the pinky finger bone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the phalanges of the 5th finger"
- }
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- "xrefs": [
- {
- "val": "UMLS:C4025408"
- }
- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004214",
- "lbl": "Curved phalanges of the 5th finger",
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- "definition": {
- "val": "Curved phalanges of the 5th (little) finger.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved little finger bone",
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- "ORCID:0000-0001-5208-3432"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Curved pinkie finger bone",
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- "ORCID:0000-0001-5208-3432"
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- "val": "UMLS:C4025407"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004216",
- "lbl": "Osteolytic defects of the phalanges of the 5th finger",
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- "definition": {
- "val": "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.",
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- "HPO:curators"
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- {
- "pred": "hasExactSynonym",
- "val": "Lytic defects of the phalanges of the little finger"
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- {
- "val": "UMLS:C4021677"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004218",
- "lbl": "Symphalangism of the 5th finger",
- "meta": {
- "definition": {
- "val": "Fusion of two or more bones of the 5th finger.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Fused little finger bones",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
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- "val": "Fused pinkie finger bones",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused pinky finger bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fifth finger symphalangism"
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- {
- "pred": "hasExactSynonym",
- "val": "Symphalagism of the little finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021676"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004219",
- "lbl": "Abnormality of the middle phalanx of the 5th finger",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the middle bone of little finger",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the middle bone of pinkie finger",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the middle bone of pinky finger",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025406"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004220",
- "lbl": "Short middle phalanx of the 5th finger",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003069"
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- "val": "HP:0004221"
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- "comments": [
- "Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3)."
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- "definition": {
- "val": "Hypoplastic/small middle phalanx of the fifth finger.",
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- "HPO:skoehler",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Short middle bone of the little finger",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short middle bone of the pinkie finger",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short middle bone of the pinky finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "5th finger middle phalangeal hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Brachymesophalangism V"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachymesophalangy V (finger)"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fifth finger mid-phalanx hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic fifth finger middle phalanx"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic middle phalanx of the 5th finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/small middle phalanx of the 5th finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/small middle phalanx of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short middle phalanx of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type A3 brachydactyly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834060"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004222",
- "lbl": "Cone-shaped epiphysis of the distal phalanx of the 5th finger",
- "meta": {
- "definition": {
- "val": "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone-shaped end part of the outermost little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone-shaped end part of the outermost pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone-shaped end part of the outermost pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cone-shaped epiphysis of the distal phalanx of the little finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004223",
- "lbl": "Ivory epiphysis of the distal phalanx of the 5th finger",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004229"
- }
- ],
- "definition": {
- "val": "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density of end part of the outermost little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density of end part of the outermost pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density of end part of the outermost pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ivory epiphysis of the distal phalanx of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ivory epiphysis of the terminal phalanx of the little finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004224",
- "lbl": "Abnormality of the epiphysis of the middle phalanx of the 5th finger",
- "meta": {
- "definition": {
- "val": "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the end part of middle little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the end part of middle pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the end part of middle pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025405"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004225",
- "lbl": "Abnormality of the distal phalanx of the 5th finger",
- "meta": {
- "definition": {
- "val": "Abnormality of the distal phalanx of the 5th (little) finger.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the outermost little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the outermost pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the outermost pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the distal phalanx of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the terminal phalanx of the little finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021673"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004226",
- "lbl": "Curved distal phalanx of the 5th finger",
- "meta": {
- "definition": {
- "val": "Curved appearance of the distal phalanx of the 5th (little) finger.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved outermost little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved outermost pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved outermost pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Curved terminal phalanx of the little finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021672"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004227",
- "lbl": "Short distal phalanx of the 5th finger",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006171"
- }
- ],
- "definition": {
- "val": "Hypoplastic/small distal phalanx of the fifth finger.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short outermost little finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short outermost pinkie finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short outermost pinky finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachytelophalangism V"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fifth digit distal phalangeal hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/small terminal phalanx of the little finger"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short distal phalanx of the fifth finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836674"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004230",
- "lbl": "Subluxation of the proximal interphalangeal joint of the little finger",
- "meta": {
- "definition": {
- "val": "A partial dislocation of the proximal interphalangeal joint of the little finger.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partially dislocated innermost hinge joint of little finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partially dislocated innermost hinge joint of pinkie finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partially dislocated innermost hinge joint of pinky finger",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025404"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004231",
- "lbl": "Carpal bone aplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005056"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006020"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006084"
- }
- ],
- "comments": [
- "Radiographically difficult to distinguish between absent ossification of a carpal bone."
- ],
- "definition": {
- "val": "Congenital absence of a carpal bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Absent carpal ossification centre"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent wrist bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing wrist bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent carpal bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent carpal bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent carpal ossification center"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic carpal bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836219"
- },
- {
- "val": "UMLS:C4280537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004232",
- "lbl": "Accessory carpal bones",
- "meta": {
- "definition": {
- "val": "The presence of more than the normal number of carpal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Supernumerary carpal bones"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:20136007"
- },
- {
- "val": "SNOMEDCT_US:9181003"
- },
- {
- "val": "UMLS:C0265609"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004233",
- "lbl": "Advanced ossification of carpal bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006104"
- }
- ],
- "definition": {
- "val": "Ossification of carpal bones at an abnormally early age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accelerated wrist bone maturation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Accelerated carpal bone maturation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Advanced carpal bone age"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Advanced carpal ossification"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Precociously ossified carpal bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849292"
- },
- {
- "val": "UMLS:C4280536"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004234",
- "lbl": "Bone-in-a-bone appearance of carpal bones",
- "meta": {
- "definition": {
- "val": "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone-in-a-bone appearance of wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025403"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004235",
- "lbl": "Comma-shaped carpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Comma-shaped wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025402"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004236",
- "lbl": "Irregular carpal bones",
- "meta": {
- "definition": {
- "val": "Carpal bones with irregular or fragmented margins.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025401"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004237",
- "lbl": "Large carpal bones",
- "meta": {
- "definition": {
- "val": "Increased size of carpal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large carpals"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021671"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004238",
- "lbl": "Lytic defects of carpal bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025400"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004239",
- "lbl": "Proximally placed carpal bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025399"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004240",
- "lbl": "Sclerotic foci within carpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hardened spots within wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stiffened spots within wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025398"
- },
- {
- "val": "UMLS:C4280535"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004241",
- "lbl": "Stippled calcification in carpal bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006177"
- }
- ],
- "definition": {
- "val": "Point-shaped (punctate) calcifications affecting the carpal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Punctate calcifications of carpals"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844846"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004242",
- "lbl": "Broad carpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide carpal bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3554618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004243",
- "lbl": "Abnormality of the scaphoid",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004244",
- "lbl": "Accessory scaphoid",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025396"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004245",
- "lbl": "Comma-shaped scaphoid",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025395"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004246",
- "lbl": "Delayed ossification of the scaphoid",
- "meta": {
- "definition": {
- "val": "Formation of bone tissue of scaphoid is less than expected for age.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delayed maturation of the scaphoid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021670"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004247",
- "lbl": "Small scaphoid",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the scaphoid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004248",
- "lbl": "Abnormality of the lunate bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025393"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004249",
- "lbl": "Accessory lunate",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025392"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004250",
- "lbl": "Proximally placed lunate",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025391"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004251",
- "lbl": "Lunate-triquetral fusion",
- "meta": {
- "comments": [
- "Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved."
- ],
- "definition": {
- "val": "Osseous fusion of the lunate and triquetrum.",
- "xrefs": [
- "PMID:23853014"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lunotriquetral synostosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867930"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004252",
- "lbl": "Abnormality of the trapezium",
- "meta": {
- "definition": {
- "val": "An anomaly of trapezium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004253",
- "lbl": "Absent trapezium",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent trapezium bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1847190"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004254",
- "lbl": "Delayed ossification of the trapezium",
- "meta": {
- "definition": {
- "val": "Formation of bone tissue of trapezium is less than expected for age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delayed maturation of the trapezium"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021669"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004255",
- "lbl": "Small trapezium",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the trapezium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025389"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004256",
- "lbl": "Abnormality of the trapezoid bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025388"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004257",
- "lbl": "Delayed ossification of the trapezoid bone",
- "meta": {
- "definition": {
- "val": "Formation of bone tissue of trapezoid is less than expected for age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Delayed maturation of the trapezoid bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021668"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004258",
- "lbl": "Small trapezoid bone",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the trapezoid.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025387"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004259",
- "lbl": "Abnormality of the hamate bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025386"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004260",
- "lbl": "Large hamate bone",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Large unciform bone",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025385"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004261",
- "lbl": "Wide hamate bone",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Broad hamate bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide unciform bone",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021667"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004262",
- "lbl": "Abnormality of the capitate bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025384"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004263",
- "lbl": "Large capitate bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025383"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004264",
- "lbl": "Narrow carpal joint spaces",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004265"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased carpal joint angles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021666"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004267",
- "lbl": "Narrow small joints of the hand",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow small joints of the hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025382"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004268",
- "lbl": "Osteoarthritis of the small joints of the hand",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025381"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004269",
- "lbl": "Subluxation of the small joints of the hand",
- "meta": {
- "definition": {
- "val": "A partial dislocation of some or all of the small joints of the hand.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial dislocation of small joints of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025380"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004271",
- "lbl": "Cortical thickening of hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025379"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004272",
- "lbl": "Cortical thinning of hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025378"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004273",
- "lbl": "Cupped metaphyses of hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupped wide portion of hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cupped metaphysis of hand bones",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025377"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004274",
- "lbl": "Deficient ossification of hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deficient maturation of hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025376"
- },
- {
- "val": "UMLS:C4280534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004275",
- "lbl": "Duplication of hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Duplication of hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3276746"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004276",
- "lbl": "Exostoses of hand bones",
- "meta": {
- "definition": {
- "val": "Abnormal formation of new bone on the surface of a bone of the hand.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025375"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004277",
- "lbl": "Fractured hand bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0041232"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fractured hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broken hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:20511007"
- },
- {
- "val": "UMLS:C0435632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004278",
- "lbl": "Synostosis involving bones of the hand",
- "meta": {
- "definition": {
- "val": "An abnormal union between bones or parts of bones of the hand.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004279",
- "lbl": "Short palm",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001165"
- }
- ],
- "comments": [
- "This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. \"Short hand\" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short."
- ],
- "definition": {
- "val": "Short palm.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short palm"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short hands"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short palms",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypoplastic hands"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843108"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004280",
- "lbl": "Irregular ossification of hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular maturation of hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025374"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004281",
- "lbl": "Irregular sclerosis of hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025373"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004283",
- "lbl": "Narrow palm",
- "meta": {
- "comments": [
- "Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces \"narrow hands\" as that term may leave the impression that it includes the thumb, which it does not."
- ],
- "definition": {
- "val": "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrow palm"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow hand"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Narrow hands",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004284",
- "lbl": "Notched hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Notched hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025372"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004285",
- "lbl": "Overmodelled hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025371"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004286",
- "lbl": "Patchy sclerosis of hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uneven increase in bone density in hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025370"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004287",
- "lbl": "Pointed hand bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025369"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004288",
- "lbl": "Pseudoepiphyses of hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025368"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004289",
- "lbl": "Sclerotic foci in hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025367"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004290",
- "lbl": "Sclerosis of hand bones with transverse striations",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025366"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004291",
- "lbl": "Stippled calcification of hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025365"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004292",
- "lbl": "Undermodelled hand bones",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025364"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004293",
- "lbl": "Synostosis of second metacarpal-trapezoid",
- "meta": {
- "definition": {
- "val": "Fusion of the second metacarpal-trapezoid.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fusion of second metacarpal-trapezoid"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021665"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004294",
- "lbl": "Subluxation of metacarpal phalangeal joints",
- "meta": {
- "definition": {
- "val": "A partial dislocation affecting some or all of the metacarpophalangeal joints.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial knuckle dislocation",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subluxation of metacarpophalangeal joints",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025363"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004295",
- "lbl": "Abnormal gastric mucosa morphology",
- "meta": {
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- "val": "2008-02-20T11:12:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the gastric mucous membrane.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the mucous membrane layer of stomach",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the gastric mucosa"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025362"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004296",
- "lbl": "Abnormal gastrointestinal vascular morphology",
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- "val": "2008-02-20T11:24:00Z"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Abnormality of GI vasculature"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of GI blood vessels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of gastrointestinal vasculature"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004297",
- "lbl": "Abnormality of the biliary system",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-02-20T11:34:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the biliary system.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0940767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004298",
- "lbl": "Abnormality of the abdominal wall",
- "meta": {
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- "val": "2008-02-20T11:40:00Z"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001462"
- }
- ],
- "definition": {
- "val": "The presence of any abnormality affecting the abdominal wall.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the abdominal wall"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of external features of the abdomen"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021664"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004299",
- "lbl": "Hernia of the abdominal wall",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-02-20T11:42:00Z"
- }
- ],
- "comments": [
- "A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia."
- ],
- "definition": {
- "val": "The presence of a hernia in the abdominal wall.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Herniated abdominal wall",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
- {
- "val": "Fyler:4414"
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- {
- "val": "SNOMEDCT_US:128545000"
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- {
- "val": "UMLS:C1442978"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004302",
- "lbl": "Functional motor deficit",
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- "val": "2008-02-20T11:52:00Z"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Functional motor problems"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025360"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004303",
- "lbl": "Abnormal muscle fiber morphology",
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- "val": "2008-02-20T12:04:00Z"
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- "val": "HP:0003706"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0011806"
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- "comments": [
- "Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products."
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- "definition": {
- "val": "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.",
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- "PMID:22938878"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Abnormal muscle fibre morphology"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal skeletal muscle fibre morphology"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of muscle fibres"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal skeletal muscle fiber morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of muscle fibers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021663"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004305",
- "lbl": "Involuntary movements",
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- "val": "2008-02-20T12:18:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007120"
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- ],
- "definition": {
- "val": "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary movements"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Involuntary muscle contractions"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:102542000"
- },
- {
- "val": "UMLS:C0235086"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004306",
- "lbl": "Abnormal endocardium morphology",
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- "val": "2008-02-20T01:23:00Z"
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- "val": "HP:0005260"
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- ],
- "definition": {
- "val": "An abnormality of the endocardium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the endocardium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the endomycoardium"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021662"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004307",
- "lbl": "Abnormal anatomic location of the heart",
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- "val": "2008-02-20T01:23:00Z"
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- ],
- "definition": {
- "val": "Developmental defect characterized by an anomalous anatomic location of the heart."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025359"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004308",
- "lbl": "Ventricular arrhythmia",
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- "val": "2008-02-20T01:28:00Z"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ventricular arrhythmias",
- "xrefs": [
- "HPO:skoehler"
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- "xrefs": [
- {
- "val": "SNOMEDCT_US:44103008"
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- {
- "val": "UMLS:C0085612"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004309",
- "lbl": "Ventricular preexcitation",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-02-20T01:29:00Z"
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- "val": "HP:0006676"
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- ],
- "comments": [
- "Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node."
- ],
- "definition": {
- "val": "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pre-excitation syndrome"
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- {
- "pred": "hasExactSynonym",
- "val": "Preexcitation"
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- {
- "pred": "hasExactSynonym",
- "val": "Ventricular pre-excitation"
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- "xrefs": [
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- "val": "SNOMEDCT_US:195060002"
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- "val": "UMLS:C0559106"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004311",
- "lbl": "Abnormal macrophage morphology",
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- "val": "2008-02-20T03:14:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004310"
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- "definition": {
- "val": "An abnormality of macrophages.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of histiocytes"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of macrophages"
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- "xrefs": [
- {
- "val": "UMLS:C4021661"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004312",
- "lbl": "Abnormal reticulocyte morphology",
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- "val": "2008-02-20T03:19:00Z"
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- "comments": [
- "Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining."
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- "definition": {
- "val": "A reticulocyte abnormality.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of reticulocytes"
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- "xrefs": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004313",
- "lbl": "Decreased circulating antibody level",
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- "val": "HP:0010703"
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- "comments": [
- "In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM."
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- "definition": {
- "val": "An abnormally decreased level of immunoglobulin in blood.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Decreased antibody level in blood"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased immunoglobulin level"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased serum immunoglobulin"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypogammaglobulinemia"
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- {
- "pred": "hasExactSynonym",
- "val": "Immunoglobulin deficiency"
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- {
- "pred": "hasExactSynonym",
- "val": "Reduced immunoglobulin levels"
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- "xrefs": [
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- "val": "MSH:D000361"
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- "lbl": "Decreased circulating IgG level",
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- "val": "HP:0003289"
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- "val": "HP:0003294"
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- "val": "HP:0005394"
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- "val": "HP:0008325"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008340"
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- ],
- "definition": {
- "val": "An abnormally decreased level of immunoglobulin G (IgG) in blood.",
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- "HPO:probinson"
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- {
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- "val": "Decreased IgG level"
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- "pred": "hasExactSynonym",
- "val": "Decreased IgG level in blood"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased gamma-globin expression"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased immunoglobulin G"
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- "val": "Decreased serum IgG"
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- "lbl": "Decreased circulating aldosterone level",
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- "val": "2008-02-25T10:45:00Z"
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- "val": "HP:0000355"
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- "val": "HP:0002924"
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- "val": "HP:0008184"
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- "val": "HP:0008190"
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- ],
- "comments": [
- "Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis."
- ],
- "definition": {
- "val": "Abnormally reduced levels of aldosterone.",
- "xrefs": [
- "DDD:spark",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low blood aldosterone level",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased aldosterone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased aldosterone production"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased serum aldosterone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoaldosteronism"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mineralocorticoid insufficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006994"
- },
- {
- "val": "SNOMEDCT_US:60086000"
- },
- {
- "val": "UMLS:C0020595"
- },
- {
- "val": "UMLS:C0857899"
- },
- {
- "val": "UMLS:C1846226"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004320",
- "lbl": "Vaginal fistula",
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- "val": "2008-02-25T12:17:00Z"
- }
- ],
- "definition": {
- "val": "The presence of a fistula of the vagina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D014624"
- },
- {
- "val": "SNOMEDCT_US:45135002"
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- {
- "val": "UMLS:C0042253"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004321",
- "lbl": "Bladder fistula",
- "meta": {
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- "val": "2008-02-25T12:32:00Z"
- }
- ],
- "definition": {
- "val": "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D001747"
- },
- {
- "val": "SNOMEDCT_US:68666001"
- },
- {
- "val": "UMLS:C0005690"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004322",
- "lbl": "Short stature",
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- "val": "HP:0001509"
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- "val": "HP:0003501"
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- "val": "HP:0003507"
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- "val": "HP:0003512"
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- "val": "HP:0003518"
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- "val": "HP:0003519"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008871"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008882"
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- "val": "HP:0008888"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008913"
- }
- ],
- "definition": {
- "val": "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased body height"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short stature"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small stature"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Height less than 3rd percentile"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Stature below 3rd percentile"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:237836003"
- },
- {
- "val": "UMLS:C0349588"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004323",
- "lbl": "Abnormality of body weight",
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- "val": "2008-02-27T03:21:00Z"
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- "val": "HP:0010718"
- }
- ],
- "definition": {
- "val": "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of body weight"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of habitus"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C0878621"
- },
- {
- "val": "UMLS:C4025357"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004324",
- "lbl": "Increased body weight",
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- "val": "2008-02-27T03:21:00Z"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0045083"
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- ],
- "definition": {
- "val": "Abnormally increased body weight."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased body weight"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weight gain"
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- ],
- "xrefs": [
- {
- "val": "MSH:D015430"
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- {
- "val": "SNOMEDCT_US:161831008"
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- "val": "SNOMEDCT_US:262286000"
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- "val": "SNOMEDCT_US:8943002"
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- "val": "UMLS:C0043094"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004325",
- "lbl": "Decreased body weight",
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- "val": "2008-02-27T03:22:00Z"
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- "val": "HP:0001823"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001826"
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- ],
- "definition": {
- "val": "Abnormally low body weight."
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased body weight"
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- "val": "Decreased weight"
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- "val": "Low body weight"
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low weight"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weight less than 3rd percentile"
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- ],
- "xrefs": [
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- "val": "MSH:D013851"
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- {
- "val": "MSH:D015431"
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- {
- "val": "SNOMEDCT_US:161832001"
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- {
- "val": "SNOMEDCT_US:248342006"
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- "val": "SNOMEDCT_US:262285001"
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- "val": "SNOMEDCT_US:89362005"
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- "val": "UMLS:C0041667"
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- "val": "UMLS:C1262477"
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- "val": "UMLS:C1844806"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004326",
- "lbl": "Cachexia",
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- "val": "2008-02-27T03:23:00Z"
- }
- ],
- "definition": {
- "val": "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wasting syndrome",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "MSH:D002100"
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- {
- "val": "SNOMEDCT_US:238108007"
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- {
- "val": "SNOMEDCT_US:285384003"
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- {
- "val": "UMLS:C0006625"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004327",
- "lbl": "Abnormal vitreous humor morphology",
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- "val": "2008-02-27T04:20:00Z"
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- ],
- "comments": [
- "The vitreous humor is the clear gel that fills the space between the lens and the retina."
- ],
- "definition": {
- "val": "Any structural anomaly of the vitreous body.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal vitreous humour morphology"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025356"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004328",
- "lbl": "Abnormal anterior eye segment morphology",
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- ],
- "comments": [
- "The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens."
- ],
- "definition": {
- "val": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal anterior segment morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the anterior segment of the eye"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the anterior segment of the eyeball"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the anterior segment of the globe"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025355"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004329",
- "lbl": "Abnormal posterior eye segment morphology",
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- "val": "2008-02-27T04:25:00Z"
- }
- ],
- "comments": [
- "The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal morphology of the posterior segment of the globe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the posterior segment of the eye"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the posterior segment of the eyeball"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the posterior segment of the globe"
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- ],
- "xrefs": [
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- "val": "UMLS:C4025354"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004330",
- "lbl": "Increased skull ossification",
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- "val": "2008-02-28T11:54:00Z"
- }
- ],
- "definition": {
- "val": "An increase in the magnitude or amount of ossification of the skull.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
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- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerosis of bones of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Sclerosis of skull",
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- "xrefs": [
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- "val": "SNOMEDCT_US:17401000119104"
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- {
- "val": "UMLS:C0020496"
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- "val": "UMLS:C4072850"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004331",
- "lbl": "Decreased skull ossification",
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- "val": "HP:0003780"
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- ],
- "definition": {
- "val": "A reduction in the magnitude or amount of ossification of the skull.",
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- "HPO:probinson"
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- },
- "subsets": [
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- "synonyms": [
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased mineralization of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Deficient skull ossification"
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- {
- "pred": "hasExactSynonym",
- "val": "Poorly mineralized skull"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poorly ossified skull bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoossification of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ossification defect of skull",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Poorly ossified skull",
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- "xrefs": [
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- "val": "SNOMEDCT_US:253980008"
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- "val": "UMLS:C0432073"
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- "val": "UMLS:C4280533"
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- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004332",
- "lbl": "Abnormal lymphocyte morphology",
- "meta": {
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- "val": "2008-02-28T06:46:00Z"
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- "val": "HP:0001887"
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- "val": "HP:0012140"
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- "comments": [
- "A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage."
- ],
- "definition": {
- "val": "An abnormality of lymphocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal lymphocytes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cells of the lymphoid lineage"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:250284007"
- },
- {
- "val": "UMLS:C0427546"
- }
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004333",
- "lbl": "Bone-marrow foam cells",
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- "val": "2008-02-28T06:48:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001979"
- }
- ],
- "definition": {
- "val": "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bone marrow foam cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large vacuolated foam cells ('NP cells') on bone marrow biopsy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large vacuolated foam cells on bone marrow biopsy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856560"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004334",
- "lbl": "Dermal atrophy",
- "meta": {
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- "val": "2008-03-04T06:24:00Z"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000985"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001077"
- }
- ],
- "definition": {
- "val": "Partial or complete wasting (atrophy) of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin degeneration",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrophic skin"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skin atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10040799"
- },
- {
- "val": "SNOMEDCT_US:399979006"
- },
- {
- "val": "SNOMEDCT_US:400190005"
- },
- {
- "val": "UMLS:C0151514"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004336",
- "lbl": "Myelin outfoldings",
- "meta": {
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- "val": "2008-03-04T06:41:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003433"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006898"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007290"
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- ],
- "comments": [
- "This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy)."
- ],
- "definition": {
- "val": "The presence of excessive redundant myelin in the peripheral nerve sheath.",
- "xrefs": [
- "HPO:probinson",
- "PMID:10932274"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Excessive focal folding of myelin sheaths"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular myelin foldings"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843168"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004337",
- "lbl": "Abnormality of amino acid metabolism",
- "meta": {
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- "val": "2008-03-08T07:53:00Z"
- }
- ],
- "definition": {
- "val": "Abnormality of an amino acid metabolic process.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Amino acid levels abnormal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1328440"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004338",
- "lbl": "Abnormal circulating aromatic amino acid concentration",
- "meta": {
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- "val": "2008-03-08T07:55:00Z"
- }
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of aromatic amino acid family metabolism"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025352"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004339",
- "lbl": "Abnormal circulating sulfur amino acid concentration",
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- "val": "2008-03-08T08:01:00Z"
- }
- ],
- "comments": [
- "Cysteine and methionine contain a sulfur atom."
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal circulating sulphur amino acid concentration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of sulfur-containing amino acids"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021660"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004340",
- "lbl": "Abnormality of vitamin B metabolism",
- "meta": {
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- "val": "2008-03-08T08:08:00Z"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of B-vitamin metabolism"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021659"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004341",
- "lbl": "Abnormality of vitamin B12 metabolism",
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- "val": "2008-03-08T08:09:00Z"
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the vitamin B12 metabolism"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021658"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004342",
- "lbl": "Abnormality of galactoside metabolism",
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- "val": "2008-03-08T08:33:00Z"
- }
- ],
- "definition": {
- "val": "Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025351"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004343",
- "lbl": "Abnormal glycosphingolipid metabolism",
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- "comments": [
- "Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid."
- ],
- "definition": {
- "val": "An abnormality of glycosphingolipid metabolism.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of glycosphingolipid metabolism"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025350"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004344",
- "lbl": "Abnormality of cerebrosidase metabolism",
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- "val": "2008-03-08T08:36:00Z"
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- "xrefs": [
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004345",
- "lbl": "Ganglioside accumulation",
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- "val": "2008-03-11T07:50:00Z"
- }
- ],
- "comments": [
- "A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain."
- ],
- "definition": {
- "val": "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).",
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- "HPO:probinson",
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- "val": "UMLS:C4025348"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004347",
- "lbl": "Weakness of muscles of respiration",
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- "val": "2008-03-11T08:03:00Z"
- }
- ],
- "definition": {
- "val": "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.",
- "xrefs": [
- "HPO:probinson"
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- "xrefs": [
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- "val": "UMLS:C4025347"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004348",
- "lbl": "Abnormality of bone mineral density",
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- "val": "2008-03-11T08:10:00Z"
- }
- ],
- "definition": {
- "val": "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of bone mineralisation and ossification"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021657"
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- ]
- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004349",
- "lbl": "Reduced bone mineral density",
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- "val": "2008-03-11T08:10:00Z"
- }
- ],
- "definition": {
- "val": "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.",
- "xrefs": [
- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low solidness and mass of the bones",
- "xrefs": [
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- "https://orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased bone mineral density Z score"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased bone mineral density",
- "xrefs": [
- "HPO:skoehler"
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- "val": "UMLS:C2674432"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004352",
- "lbl": "Abnormal circulating purine concentration",
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- }
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- "comments": [
- "Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine."
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a purine in the blood circulation."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal circulating purine level"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025346"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004353",
- "lbl": "Abnormal circulating pyrimidine concentration",
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- }
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a pyrimidine in the blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025345"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004354",
- "lbl": "Abnormal circulating carboxylic acid concentration",
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- }
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- "comments": [
- "Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH)."
- ],
- "definition": {
- "val": "Any deviation from the normal concentration of a carboxylic acid in the blood circulation.",
- "xrefs": [
- "HPO:gcarletti"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025344"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004355",
- "lbl": "obsolete Abnormality of proteoglycan metabolism",
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- "lbl": "Abnormality of lysosomal metabolism",
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- "val": "2008-03-17T02:40:00Z"
- }
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- "comments": [
- "A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors."
- ],
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- {
- "val": "UMLS:C4025342"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004357",
- "lbl": "Abnormal circulating leucine concentration",
- "meta": {
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- "val": "2008-03-17T03:02:00Z"
- }
- ],
- "definition": {
- "val": "Any deviation from the normal circulation of leucine in the blood circulation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025341"
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- "lbl": "Abnormality of superoxide metabolism",
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- "val": "Any deviation from the normal concentration of calcium in the blood circulation.",
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- "lbl": "Abnormality of glycolysis",
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- "val": "2008-03-18T08:11:00Z"
- }
- ],
- "comments": [
- "The anal canal is continuous proximally with the rectum and distally terminates with the anus."
- ],
- "definition": {
- "val": "Abnormality of the anal canal.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the anus"
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- {
- "val": "UMLS:C4025329"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004379",
- "lbl": "Abnormality of alkaline phosphatase level",
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- "val": "2008-03-18T08:13:00Z"
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- "comments": [
- "Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease."
- ],
- "definition": {
- "val": "An abnormality of alkaline phosphatase level.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Abnormality of ALP level"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of alkaline phosphatase activity"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Alkaline phosphatase abnormal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020829"
- },
- {
- "val": "UMLS:C4025328"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004380",
- "lbl": "Aortic valve calcification",
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- "val": "HP:0004759"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005173"
- }
- ],
- "definition": {
- "val": "Deposition of calcium salts in the aortic valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C562942"
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- {
- "val": "SNOMEDCT_US:250978003"
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- "val": "UMLS:C0428791"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004381",
- "lbl": "Supravalvular aortic stenosis",
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- "val": "2008-03-18T08:54:00Z"
- }
- ],
- "definition": {
- "val": "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "Fyler:1430"
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- {
- "val": "MSH:D021921"
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- {
- "val": "SNOMEDCT_US:268185002"
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- {
- "val": "UMLS:C0003499"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004382",
- "lbl": "Mitral valve calcification",
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- "val": "2008-03-18T08:55:00Z"
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- "val": "HP:0005149"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200129"
- }
- ],
- "definition": {
- "val": "Abnormal calcification of the mitral valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:473372009"
- },
- {
- "val": "UMLS:C0919718"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004383",
- "lbl": "Hypoplastic left heart",
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- "val": "2008-03-18T08:56:00Z"
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- "comments": [
- "Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes."
- ],
- "definition": {
- "val": "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.",
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- "HPO:probinson",
- "PMID:22192721"
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- "pred": "hasExactSynonym",
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- "val": "Underdeveloped left heart",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Heart left ventricle hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018636"
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- {
- "val": "SNOMEDCT_US:62067003"
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- "val": "UMLS:C0152101"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004384",
- "lbl": "Type I truncus arteriosus",
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- "val": "2008-03-18T08:57:00Z"
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- "comments": [
- "According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect."
- ],
- "definition": {
- "val": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.",
- "xrefs": [
- "DDD:dbrown",
- "HPO:probinson"
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- "pred": "hasExactSynonym",
- "val": "Persistent truncus arteriosus type I"
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- {
- "pred": "hasExactSynonym",
- "val": "Type 1 truncus arteriosus"
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- "xrefs": [
- {
- "val": "Fyler:0510"
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- {
- "val": "Fyler:510"
- },
- {
- "val": "UMLS:C1834934"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004385",
- "lbl": "Protracted diarrhea",
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- "pred": "hasExactSynonym",
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- "val": "Protracted diarrhoea"
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- "val": "SNOMEDCT_US:236077008"
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- "val": "UMLS:C0473133"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004386",
- "lbl": "Gastrointestinal inflammation",
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- "val": "2008-03-18T09:01:00Z"
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- "definition": {
- "val": "Inflammation of the alimentary part of the gastrointestinal system."
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Gastrointestinal inflammation"
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- "val": "UMLS:C1535950"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004387",
- "lbl": "Enterocolitis",
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- "val": "2008-03-18T09:02:00Z"
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- "definition": {
- "val": "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).",
- "xrefs": [
- "HPO:sdoelken"
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- "xrefs": [
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- "val": "MSH:D004760"
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- "val": "SNOMEDCT_US:43752006"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004388",
- "lbl": "Microcolon",
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- "val": "2008-03-18T09:02:00Z"
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- "definition": {
- "val": "A colon of abnormally small caliber.",
- "xrefs": [
- "PMID:3484569"
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- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Microcolon on contrast enema",
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- "xrefs": [
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- "val": "MSH:C562563"
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- "val": "SNOMEDCT_US:18389004"
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- "val": "UMLS:C0266200"
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- "val": "UMLS:C3553395"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004389",
- "lbl": "Intestinal pseudo-obstruction",
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- "val": "2008-03-18T09:03:00Z"
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- "definition": {
- "val": "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.",
- "xrefs": [
- "HPO:probinson"
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- "pred": "hasExactSynonym",
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- "xrefs": [
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- "val": "MSH:D007418"
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- "val": "SNOMEDCT_US:235825006"
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- "val": "SNOMEDCT_US:715201005"
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- "val": "UMLS:C0021847"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004390",
- "lbl": "Hamartomatous polyposis",
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- "comments": [
- "Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps."
- ],
- "definition": {
- "val": "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.",
- "xrefs": [
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Hamartomatous polyps"
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- "pred": "hasRelatedSynonym",
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- "xrefs": [
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- "val": "SNOMEDCT_US:27391005"
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- "val": "UMLS:C0334092"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004392",
- "lbl": "Prune belly",
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- "comments": [
- "Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles."
- ],
- "definition": {
- "val": "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
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- "lbl": "Multiple gastric polyps",
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- "lbl": "Malnutrition",
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- "lbl": "Poor appetite",
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- "definition": {
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- "synonyms": [
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- "type": "CLASS"
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- "definition": {
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004398",
- "lbl": "Peptic ulcer",
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- "Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists."
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- "val": "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.",
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- "val": "Sore in the lining of gastrointestinal tract",
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- }
- ],
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- "val": "MSH:D010437"
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- {
- "val": "SNOMEDCT_US:13200003"
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- {
- "val": "UMLS:C0030920"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004399",
- "lbl": "Congenital pyloric atresia",
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- "val": "Congenital atresia of the pylorus.",
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- "val": "An abnormality of the pylorus.",
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- "id": "http://purl.obolibrary.org/obo/HP_0004401",
- "lbl": "Meconium ileus",
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- "val": "Meconium ileus on ultrasonography",
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- "val": "SNOMEDCT_US:233662009"
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- "val": "UMLS:C0398349"
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- "val": "UMLS:C2939175"
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- "lbl": "Proximal esophageal atresia",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004404",
- "lbl": "Abnormal nipple morphology",
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- "val": "An abnormality of the nipple.",
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- "type": "CLASS"
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- "lbl": "Prominent nipples",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004406",
- "lbl": "Spontaneous, recurrent epistaxis",
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- "val": "Recurring nosebleed",
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- "val": "Recurrent epistaxes"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004407",
- "lbl": "Bony paranasal bossing",
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- "id": "http://purl.obolibrary.org/obo/HP_0004408",
- "lbl": "Abnormality of the sense of smell",
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- "val": "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).",
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- "lbl": "Abnormality of the pulmonary artery",
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- "val": "An abnormality of the pulmonary artery.",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004422",
- "lbl": "Biparietal narrowing",
- "meta": {
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- "val": "peter"
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- {
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- "val": "2008-03-18T09:35:00Z"
- }
- ],
- "definition": {
- "val": "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of the skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854418"
- },
- {
- "val": "UMLS:C4280532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004423",
- "lbl": "Cranium bifidum occultum",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
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- "val": "2008-03-18T09:37:00Z"
- }
- ],
- "comments": [
- "Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect."
- ],
- "definition": {
- "val": "Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.",
- "xrefs": [
- "PMID:28522383"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C566826"
- },
- {
- "val": "SNOMEDCT_US:718099006"
- },
- {
- "val": "UMLS:C1868598"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004425",
- "lbl": "Flat forehead",
- "meta": {
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- "val": "2008-03-18T09:41:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004659"
- }
- ],
- "definition": {
- "val": "A forehead with abnormal flatness.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat forehead"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened forehead"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Frontal flattening",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857485"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004426",
- "lbl": "Abnormal cheek morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-18T09:42:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface"
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the cheek"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Anomaly of the cheeks"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the cheeks",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the cheeks",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025324"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004428",
- "lbl": "Elfin facies",
- "meta": {
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- "val": "2008-03-18T09:43:00Z"
- }
- ],
- "definition": {
- "val": "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elf-like facial appearance",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Elf-like facial features",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Leprechaun facies",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:69288002"
- },
- {
- "val": "UMLS:C0332606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004429",
- "lbl": "Recurrent viral infections",
- "meta": {
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- "val": "2008-03-18T09:45:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005364"
- }
- ],
- "definition": {
- "val": "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1837066"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004430",
- "lbl": "Severe combined immunodeficiency",
- "meta": {
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- "val": "2008-03-18T09:46:00Z"
- }
- ],
- "definition": {
- "val": "A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Immunodeficiency, severe combined"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016511"
- },
- {
- "val": "SNOMEDCT_US:31323000"
- },
- {
- "val": "UMLS:C0085110"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004431",
- "lbl": "Complement deficiency",
- "meta": {
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- "val": "2008-03-18T09:51:00Z"
- }
- ],
- "definition": {
- "val": "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.",
- "xrefs": [
- "PMID:24161035"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:24743004"
- },
- {
- "val": "UMLS:C0272242"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004432",
- "lbl": "Agammaglobulinemia",
- "meta": {
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- "val": "2008-03-18T09:47:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008328"
- }
- ],
- "definition": {
- "val": "A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Agammaglobulinaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000361"
- },
- {
- "val": "SNOMEDCT_US:119249001"
- },
- {
- "val": "UMLS:C0001768"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004433",
- "lbl": "Secretory IgA deficiency",
- "meta": {
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- "val": "2008-03-18T09:48:00Z"
- }
- ],
- "definition": {
- "val": "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.",
- "xrefs": [
- "HPO:probinson",
- "PMID:2251975"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C562869"
- },
- {
- "val": "SNOMEDCT_US:234554004"
- },
- {
- "val": "UMLS:C0398709"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004434",
- "lbl": "Decreased serum complement C8",
- "meta": {
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- "val": "2008-03-18T09:53:00Z"
- }
- ],
- "comments": [
- "The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections."
- ],
- "definition": {
- "val": "A reduced level of the complement component C8 in circulation.",
- "xrefs": [
- "PMID:8098723"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "C8 deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3151082"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004437",
- "lbl": "Cranial hyperostosis",
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- "val": "HP:0002698"
- }
- ],
- "definition": {
- "val": "Excessive growth of the bones of cranium, i.e., of the skull.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of skull bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive growth of skull bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of skull bones",
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- "ORCID:0000-0001-5889-4463"
- ]
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- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick skull bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of cranial vault"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of cranial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of cranial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased ossification of cranial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1832451"
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- {
- "val": "UMLS:C4280528"
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- {
- "val": "UMLS:C4280529"
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- {
- "val": "UMLS:C4280530"
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- {
- "val": "UMLS:C4280531"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004438",
- "lbl": "Hyperostosis frontalis interna",
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- "val": "2008-03-18T09:57:00Z"
- }
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- "definition": {
- "val": "Bony overgrowth of the internal (endosteal) surface of the frontal bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- "val": "Thick inner surface of the frontal bone",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasBroadSynonym",
- "val": "Enlargement of the inner surface of the frontal bone",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of the internal surface of the frontal bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasBroadSynonym",
- "val": "Increased ossification of the internal surface of the frontal bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasBroadSynonym",
- "val": "Overgrowth of the inside of the frontal bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasBroadSynonym",
- "val": "Thick internal surface of the frontal bone",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasExactSynonym",
- "val": "Excessive growth of inner surface of the frontal bone",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of the internal surface of the frontal bone",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Overgrowth of the inner surface of the frontal bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
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- "xrefs": [
- {
- "val": "MSH:D006957"
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- {
- "val": "SNOMEDCT_US:82054006"
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- {
- "val": "UMLS:C0020494"
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- {
- "val": "UMLS:C4280524"
- },
- {
- "val": "UMLS:C4280525"
- },
- {
- "val": "UMLS:C4280526"
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- {
- "val": "UMLS:C4280527"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004439",
- "lbl": "Craniofacial dysostosis",
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- "val": "2008-03-18T09:58:00Z"
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- "comments": [
- "Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future."
- ],
- "definition": {
- "val": "A characteristic appearance resulting from defective ossification of craniofacial bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Crouzon syndrome",
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- "ORCID:0000-0001-5889-4463"
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- "val": "MSH:D003394"
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- "val": "SNOMEDCT_US:28861008"
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- {
- "val": "UMLS:C0010273"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004440",
- "lbl": "Coronal craniosynostosis",
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- "val": "HP:0002675"
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- ],
- "definition": {
- "val": "Premature closure of the coronal suture of skull.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Craniosynostosis of coronal suture"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coronal suture craniosynostosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Coronal suture synostosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856266"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004442",
- "lbl": "Sagittal craniosynostosis",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-18T10:01:00Z"
- }
- ],
- "definition": {
- "val": "A kind of craniosynostosis affecting the sagittal suture.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early closure of midline skull joint",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Midline skull joint closes early",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Craniosynostosis, sagittal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Craniosynostosis, sagittal suture"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sagittal suture synostosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:109418001"
- },
- {
- "val": "UMLS:C0432123"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004443",
- "lbl": "Lambdoidal craniosynostosis",
- "meta": {
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- "val": "2008-03-18T10:01:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004486"
- }
- ],
- "definition": {
- "val": "A kind of craniosynostosis affecting the lambdoidal suture.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lambdoid suture craniosynostosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lambdoid suture synostosis",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
- },
- {
- "val": "SNOMEDCT_US:109417006"
- },
- {
- "val": "UMLS:C1833340"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004444",
- "lbl": "Spherocytosis",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004816"
- }
- ],
- "comments": [
- "Erythrocytes are normally biconcave rather than spherical."
- ],
- "definition": {
- "val": "The presence of erythrocytes that are sphere-shaped.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:17235000"
- },
- {
- "val": "UMLS:C0553720"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004445",
- "lbl": "Elliptocytosis",
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- "val": "HP:0004837"
- }
- ],
- "comments": [
- "Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms."
- ],
- "definition": {
- "val": "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16304353",
- "PMID:21250106"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ovalocytes"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Elliptocyte"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hereditary elliptocytosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ovalocytosis",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/hereditary_elliptocytosis"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D004612"
- },
- {
- "val": "SNOMEDCT_US:178935009"
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- {
- "val": "SNOMEDCT_US:191169008"
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- {
- "val": "SNOMEDCT_US:250242004"
- },
- {
- "val": "UMLS:C0013902"
- },
- {
- "val": "UMLS:C0427480"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004446",
- "lbl": "Stomatocytosis",
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- "val": "HP:0004801"
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- ],
- "definition": {
- "val": "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16304353"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Red cell stomatocytosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "erythrocyte stomatocytes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0677598"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004447",
- "lbl": "Poikilocytosis",
- "meta": {
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- "val": "2008-03-18T10:06:00Z"
- }
- ],
- "comments": [
- "General description for abnormally shaped erythrocytes."
- ],
- "definition": {
- "val": "The presence of abnormally shaped erythrocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:165479004"
- },
- {
- "val": "UMLS:C0221281"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004448",
- "lbl": "Fulminant hepatic failure",
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- "val": "2008-03-18T10:09:00Z"
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- ],
- "definition": {
- "val": "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D017114"
- },
- {
- "val": "SNOMEDCT_US:197270009"
- },
- {
- "val": "SNOMEDCT_US:235884008"
- },
- {
- "val": "UMLS:C0162557"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004450",
- "lbl": "Preauricular skin furrow",
- "meta": {
- "definition": {
- "val": "A groove of the skin immediately in front of the ear.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Preauricular skin groove",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasExactSynonym",
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- "val": "Skin groove in front of the ear",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular skin furrows"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Preauricular skin sulcus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Skin sulcus in front of the ear",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1852411"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004451",
- "lbl": "Postauricular skin tag",
- "meta": {
- "definition": {
- "val": "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Skin tag behind the ear",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Postauricular acrochordon",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postauricular fibroepithelial polyp",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025323"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004452",
- "lbl": "Abnormality of the middle ear ossicles",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001759"
- }
- ],
- "definition": {
- "val": "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).",
- "xrefs": [
- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Malformed ossicles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ossicular malformation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836678"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004453",
- "lbl": "Overfolding of the superior helices",
- "meta": {
- "definition": {
- "val": "A condition in which the superior portion of the helix is folded over to a greater degree than normal.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Overfolding of superior helix"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1865304"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004454",
- "lbl": "Abnormal middle ear reflexes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1970887"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004458",
- "lbl": "Dilatated internal auditory canal",
- "meta": {
- "definition": {
- "val": "The presence of a dilated inner part of external acoustic meatus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bulbous internal auditory canal"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged internal auditory canal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2676973"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004459",
- "lbl": "Exostosis of the external auditory canal",
- "meta": {
- "definition": {
- "val": "A benign bony growth projecting outward from a bone surface within the external auditory canal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "External auditory canal exostoses"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:19560007"
- },
- {
- "val": "UMLS:C0155411"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004461",
- "lbl": "Congenital earlobe sinuses",
- "meta": {
- "definition": {
- "val": "Pits in the earlobes at the location where ears are typically pierced for earrings.",
- "xrefs": [
- "PMID:6958333"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C1969394"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004463",
- "lbl": "Absent brainstem auditory responses",
- "meta": {
- "definition": {
- "val": "Lack of measurable response to stimulation of auditory evoked potentials.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "No auditory brainstem response"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1836742"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004464",
- "lbl": "Postauricular pit",
- "meta": {
- "definition": {
- "val": "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pit behind the ear",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Postauricular fistula"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior auricular pit"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior auricular sinus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Postauricular earpits",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:43887004"
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- {
- "val": "UMLS:C0395905"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004466",
- "lbl": "Prolonged brainstem auditory evoked potentials",
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- "xrefs": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004467",
- "lbl": "Preauricular pit",
- "meta": {
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- "val": "HP:0004460"
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- "val": "HP:0005118"
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- "val": "HP:0008578"
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- ],
- "comments": [
- "Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst."
- ],
- "definition": {
- "val": "Small indentation anterior to the insertion of the ear.",
- "xrefs": [
- "HPO:sdoelken",
- "PMID:19152421"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- },
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Preauricular sinus"
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- {
- "pred": "hasExactSynonym",
- "val": "Ear pit",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563015"
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- {
- "val": "SNOMEDCT_US:1955003"
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- {
- "val": "SNOMEDCT_US:204271000"
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- "val": "SNOMEDCT_US:204272007"
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- "val": "UMLS:C0266610"
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- "val": "UMLS:C0266625"
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- "val": "UMLS:C0546969"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004468",
- "lbl": "Anomalous tracheal cartilage",
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- ],
- "definition": {
- "val": "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal tracheal cartilaginous ring"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863406"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004469",
- "lbl": "Chronic bronchitis",
- "meta": {
- "definition": {
- "val": "Chronic inflammation of the bronchi.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D029481"
- },
- {
- "val": "SNOMEDCT_US:63480004"
- },
- {
- "val": "UMLS:C0008677"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004470",
- "lbl": "Atretic occipital cephalocele",
- "meta": {
- "definition": {
- "val": "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1836600"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004471",
- "lbl": "Aplasia cutis congenita over the scalp vertex",
- "meta": {
- "definition": {
- "val": "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Aplasia cutis congenita of vertex"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent cutis congenita of vertex",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1970112"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004472",
- "lbl": "Mandibular hyperostosis",
- "meta": {
- "comments": [
- "This bundled term will be made obsolete in future versions of the HPO."
- ],
- "definition": {
- "val": "Hyperostosis (bony overgrowth) of the mandible.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick lower jaw bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Excessive growth of mandibular bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Overgrowth of mandibular bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Thick mandibular bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of mandibular bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased ossification of mandibular bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased ossification of lower jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased ossification of mandible",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025321"
- },
- {
- "val": "UMLS:C4280521"
- },
- {
- "val": "UMLS:C4280522"
- },
- {
- "val": "UMLS:C4280523"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004474",
- "lbl": "Persistent open anterior fontanelle",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004475"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004483"
- }
- ],
- "definition": {
- "val": "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Persistent, open anterior fontanel"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Anterior fontanelle open in adults"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Front fontanelle stays open",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004476",
- "lbl": "Aplasia cutis congenita over parietal area",
- "meta": {
- "definition": {
- "val": "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent cutis congenita over parietal area",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863492"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004478",
- "lbl": "Ethmoidal encephalocele",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843495"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004481",
- "lbl": "Progressive macrocephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000261"
- }
- ],
- "definition": {
- "val": "The progressive development of an abnormally large skull.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressively abnormally enlarging cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressively abnormally enlarging skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrocephaly, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004482",
- "lbl": "Relative macrocephaly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000257"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001364"
- }
- ],
- "definition": {
- "val": "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Relatively large head"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Disproportionately large head"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Macrocephaly, relative"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:3961000119101"
- },
- {
- "val": "UMLS:C1849075"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004484",
- "lbl": "Craniofacial asymmetry",
- "meta": {
- "definition": {
- "val": "Asymmetry of the bones of the skull and the face.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of craniofacial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of craniofacial shape",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Uneven craniofacial structures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025320"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004485",
- "lbl": "Cessation of head growth",
- "meta": {
- "definition": {
- "val": "Stagnation of head growth seen as flattening of the head circumference curve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skull stopped growing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Head stopped growing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cranium stopped growing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025319"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004487",
- "lbl": "Acrobrachycephaly",
- "meta": {
- "definition": {
- "val": "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:711039004"
- },
- {
- "val": "UMLS:C1863395"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004488",
- "lbl": "Macrocephaly at birth",
- "meta": {
- "definition": {
- "val": "The presence of an abnormally large skull with onset at birth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big head present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big head present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Congenital large head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large head present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large head present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big skull present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Big skull present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large skull present at birth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large skull present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital macrocephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Head circumference large for gestational age"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Big cranium present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Big cranium present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital large cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital large skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large cranium present at birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large cranium present since birth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836599"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004490",
- "lbl": "Calvarial hyperostosis",
- "meta": {
- "comments": [
- "The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw."
- ],
- "definition": {
- "val": "Excessive growth of the calvaria.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of skullcap",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Enlargement of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Excessive growth of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Overgrowth of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Thick calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased ossification of calvarial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537963"
- },
- {
- "val": "UMLS:C1863351"
- },
- {
- "val": "UMLS:C4280519"
- },
- {
- "val": "UMLS:C4280520"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004491",
- "lbl": "Large posterior fontanelle",
- "meta": {
- "definition": {
- "val": "An enlargement of the posterior fontanelle relative to age-dependent norms.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Large posterior fontanel"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855233"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004492",
- "lbl": "Widely patent fontanelles and sutures",
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- "basicPropertyValues": [
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- "val": "HP:0002646"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005492"
- }
- ],
- "comments": [
- "This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures."
- ],
- "definition": {
- "val": "An abnormally increased width of the cranial fontanelles and sutures.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Widely patent fontanels and sutures"
- }
- ],
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- "val": "UMLS:C1849300"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004493",
- "lbl": "Craniofacial hyperostosis",
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- "definition": {
- "val": "Excessive growth of the craniofacial bones.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
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- "val": "Enlargement of craniofacial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive growth of craniofacial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of craniofacial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thick craniofacial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive bone growth of the skull and face",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of craniofacial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of craniofacial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased ossification of craniofacial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868085"
- },
- {
- "val": "UMLS:C4280516"
- },
- {
- "val": "UMLS:C4280517"
- },
- {
- "val": "UMLS:C4280518"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004495",
- "lbl": "obsolete Thin anteverted nares",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004496",
- "lbl": "obsolete Posterior choanal atresia",
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- "deprecated": true
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004499",
- "lbl": "Chronic rhinitis due to narrow nasal airway",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Chronic nasal inflammation due to narrow nasal airway",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- {
- "val": "UMLS:C4025318"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004502",
- "lbl": "Bilateral choanal atresia",
- "meta": {
- "definition": {
- "val": "Bilateral absence (atresia) of the posterior nasal aperture (choana).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bilateral blockage of the rear opening of the nasal cavity",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bilateral obstruction of the rear opening of the nasal cavity",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025317"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004510",
- "lbl": "Pancreatic islet-cell hyperplasia",
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- "val": "HP:0006275"
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- ],
- "comments": [
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- "definition": {
- "val": "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.",
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- "HPO:probinson"
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- "synonyms": [
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- "val": "Hyperplastic islets of langerhans"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypertrophic pancreatic islets"
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- {
- "pred": "hasExactSynonym",
- "val": "Islet of Langerhans hyperplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Islets of langerhans hypertrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pancreatic islet-cell hypertrophy"
- }
- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004523",
- "lbl": "Long eyebrows",
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- "definition": {
- "val": "Increased length of the hairs of the eyebrows.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "val": "Elongated eyebrow",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased horizontal length of eyebrow",
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Increased transverse length of eyebrow",
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- "val": "UMLS:C3280131"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004524",
- "lbl": "Temporal hypotrichosis",
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- "definition": {
- "val": "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Reduced hair growth in temporal region",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- "val": "UMLS:C4025316"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004527",
- "lbl": "Large clumps of pigment irregularly distributed along hair shaft",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large clumps of pigment irregularly distributed along hair shaft"
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- ],
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- {
- "val": "UMLS:C4025315"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004528",
- "lbl": "Generalized hypotrichosis",
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- "definition": {
- "val": "Reduced or lacking hair growth in a generalized distribution.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hypotrichosis"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypotrichosis, generalised"
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- "pred": "hasExactSynonym",
- "val": "Hypotrichosis, generalized"
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- ],
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- "val": "UMLS:C4021653"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004529",
- "lbl": "Atrophic, patchy alopecia",
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- {
- "val": "UMLS:C4025314"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004532",
- "lbl": "Sacral hypertrichosis",
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- "definition": {
- "val": "Excessive, increased hair growth located in the sacral region.",
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- "HPO:probinson"
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- },
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- {
- "val": "UMLS:C4025313"
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- ]
- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004535",
- "lbl": "Anterior cervical hypertrichosis",
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- "val": "HP:0004773"
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- ],
- "definition": {
- "val": "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.",
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- "pred": "hasExactSynonym",
- "val": "Hypertrichosis, congenital anterior cervical"
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- ],
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- "val": "UMLS:C1838123"
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- "pred": "hasExactSynonym",
- "val": "Hypertrichosis universalis"
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- "val": "UMLS:C1855900"
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- "lbl": "obsolete Pointed frontal hairline",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004552",
- "lbl": "Scarring alopecia of scalp",
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- },
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- "pred": "hasExactSynonym",
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- "definition": {
- "val": "Generalized excessive, abnormal hairiness.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004557",
- "lbl": "Anterior vertebral fusion",
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- "val": "UMLS:C1969393"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004558",
- "lbl": "Cervical platyspondyly",
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- "val": "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.",
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- "pred": "hasExactSynonym",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004562",
- "lbl": "Beaking of vertebral bodies T12-L3",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004563",
- "lbl": "Increased spinal bone density",
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- "val": "Increased bone density affecting the bones of the spine (vertebral column).",
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- "pred": "hasRelatedSynonym",
- "val": "Increased spinal bone density Z-score"
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- "pred": "hasExactSynonym",
- "val": "Ivory spinal bone",
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- "pred": "hasRelatedSynonym",
- "val": "Compact spinal bone",
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- "pred": "hasRelatedSynonym",
- "val": "Eburnation of spinal bone",
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- "pred": "hasRelatedSynonym",
- "val": "Sclerosis of spinal bone",
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- "type": "CLASS"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004566",
- "lbl": "Pear-shaped vertebrae",
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- "lbl": "Increased vertebral height",
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- "type": "CLASS"
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- "lbl": "Widening of cervical spinal canal",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004573",
- "lbl": "Anterior wedging of T11",
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- "val": "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).",
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- "type": "CLASS"
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- "lbl": "Fusion of midcervical facet joints",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004576",
- "lbl": "Sclerotic vertebral endplates",
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- "val": "Sclerosis (increased density) affecting vertebral end plates.",
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- {
- "pred": "hasExactSynonym",
- "val": "Endplate sclerosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859698"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004580",
- "lbl": "Anterior scalloping of vertebral bodies",
- "meta": {
- "comments": [
- "One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin."
- ],
- "definition": {
- "val": "An excessive concavity of the anterior surface of one or more vertebral bodies.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Anterior scalloping vertebral bodies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673652"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004581",
- "lbl": "Increased anterior vertebral height",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1866732"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004582",
- "lbl": "Irregularity of vertebral bodies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025311"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004586",
- "lbl": "Biconcave vertebral bodies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002952"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004561"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004620"
- }
- ],
- "comments": [
- "This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies."
- ],
- "definition": {
- "val": "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Biconcave 'codfish' vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Biconcave vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Codfish vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fish vertebrae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scalloping of vertebral bodies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856087"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004589",
- "lbl": "Dysplasia of second lumbar vertebra",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025310"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004590",
- "lbl": "Hypoplastic sacrum",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small sacrum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1970816"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004591",
- "lbl": "Disc-like vertebral bodies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1835444"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004592",
- "lbl": "Thoracic platyspondyly",
- "meta": {
- "definition": {
- "val": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1862428"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004594",
- "lbl": "Hump-shaped mound of bone in central and posterior portions of vertebral endplate",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1839252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004598",
- "lbl": "Supernumerary vertebral ossification centers",
- "meta": {
- "definition": {
- "val": "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Supernumerary vertebral ossification centres"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025309"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004599",
- "lbl": "Absent or minimally ossified vertebral bodies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832983"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004601",
- "lbl": "Spina bifida occulta at L5",
- "meta": {
- "definition": {
- "val": "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025308"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004602",
- "lbl": "Cervical C2/C3 vertebral fusion",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004636"
- }
- ],
- "definition": {
- "val": "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fusion of cervical vertebrae c2-3"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Klippel-Feil anomaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Klippel-Feil syndrome"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007714"
- },
- {
- "val": "SNOMEDCT_US:388981000"
- },
- {
- "val": "SNOMEDCT_US:5601008"
- },
- {
- "val": "UMLS:C0022738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004603",
- "lbl": "Hyperconvex vertebral body endplates",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025307"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004605",
- "lbl": "Absent vertebral body mineralization",
- "meta": {
- "definition": {
- "val": "A lack of bone mineralization of the vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1860191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004606",
- "lbl": "Unossified vertebral bodies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008427"
- }
- ],
- "definition": {
- "val": "A lack of ossification of the vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1860202"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004607",
- "lbl": "Anterior beaking of lower thoracic vertebrae",
- "meta": {
- "definition": {
- "val": "Anterior tongue-like protrusions of the lower thoracic vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025306"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004608",
- "lbl": "Anteriorly placed odontoid process",
- "meta": {
- "definition": {
- "val": "Anterior mislocalization of the dens of the axis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1844512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004609",
- "lbl": "Patchy distortion of vertebrae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025305"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004610",
- "lbl": "Lumbar spinal canal stenosis",
- "meta": {
- "comments": [
- "Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease)."
- ],
- "definition": {
- "val": "An abnormal narrowing of the lumbar spinal canal.",
- "xrefs": [
- "HPO:probinson",
- "PMID:3160275"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lumbar spinal stenosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow lumbar spinal canal"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:18347007"
- },
- {
- "val": "UMLS:C0158288"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004611",
- "lbl": "Anterior concavity of thoracic vertebrae",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anteriorly concave vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004614",
- "lbl": "Spina bifida occulta at S1",
- "meta": {
- "definition": {
- "val": "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025304"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004616",
- "lbl": "Cleft vertebral arch",
- "meta": {
- "definition": {
- "val": "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Cleft vertebral arches"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859458"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004617",
- "lbl": "Butterfly vertebral arch",
- "meta": {
- "definition": {
- "val": "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1861627"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004618",
- "lbl": "Sandwich appearance of vertebral bodies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850134"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004619",
- "lbl": "Lumbar kyphoscoliosis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834953"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004621",
- "lbl": "Enlarged vertebral pedicles",
- "meta": {
- "comments": [
- "The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch."
- ],
- "definition": {
- "val": "Increased size of the vertebral pedicle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperplastic vertebral pedicles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025303"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004622",
- "lbl": "Progressive intervertebral space narrowing",
- "meta": {
- "definition": {
- "val": "A progressive form of decreased height of the intervertebral disk.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1837670"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004625",
- "lbl": "Biconvex vertebral bodies",
- "meta": {
- "comments": [
- "Note that biconvex vertebral bodies can be a normal finding in newborns."
- ],
- "definition": {
- "val": "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866675"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004626",
- "lbl": "Lumbar scoliosis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C2748518"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004629",
- "lbl": "Small cervical vertebral bodies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008429"
- }
- ],
- "definition": {
- "val": "Reduced size of cervical vertebrae.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Small cervical vertebrae"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851130"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004630",
- "lbl": "Anterior beaking of thoracic vertebrae",
- "meta": {
- "definition": {
- "val": "Anterior tongue-like protrusions of thoracic vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025302"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004631",
- "lbl": "Decreased cervical spine flexion due to contractures of posterior cervical muscles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to touch chin to chest",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Contracture of post-cervical muscles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839653"
- },
- {
- "val": "UMLS:C4280512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004632",
- "lbl": "Cervical segmentation defect",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004612"
- }
- ],
- "definition": {
- "val": "An abnormality related to a defect of vertebral separation of cervical vertebrae during development.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cervical spine segmentation defect"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862415"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004633",
- "lbl": "Lower thoracic kyphosis",
- "meta": {
- "definition": {
- "val": "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Round mid-back",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004634",
- "lbl": "Cuboid-shaped vertebral bodies",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cuboid vertebral bodies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673653"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004635",
- "lbl": "Cervical C5/C6 vertebrae fusion",
- "meta": {
- "definition": {
- "val": "Fusion of the C5 and C6 cervical vertebrae.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025301"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004637",
- "lbl": "Decreased cervical spine mobility",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited neck movement",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859692"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004639",
- "lbl": "Elevated amniotic fluid alpha-fetoprotein",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005985"
- }
- ],
- "comments": [
- "This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele."
- ],
- "definition": {
- "val": "An elevation of alpha-feto protein measured in the amniotic fluid.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Elevated amniotic fluid alpha foetal protein"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated amniotic fluid alpha fetal protein",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/alpha-fetoprotein"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated amniotic fluid alpha-1-fetoprotein",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/alpha-fetoprotein"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated amniotic fluid alpha-fetoglobulin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/alpha-fetoprotein"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004646",
- "lbl": "Hypoplasia of the nasal bone",
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- "definition": {
- "val": "Underdevelopment of the nasal bone.",
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- "HPO:probinson"
- ]
- },
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- {
- "pred": "hasBroadSynonym",
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- "val": "Small nasal bone",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of nasal bone",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deficiency of nasal bone",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of nasal bone",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasal bone hypoplasia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic nasal bone",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- {
- "val": "UMLS:C4021651"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004660",
- "lbl": "Hypoplasia of facial musculature",
- "meta": {
- "definition": {
- "val": "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small facial muscles",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of facial muscles",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deficiency of facial musculature",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of facial muscles",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Atrophy of facial musculature",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic facial musculature",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834042"
- },
- {
- "val": "UMLS:C4280509"
- },
- {
- "val": "UMLS:C4280510"
- },
- {
- "val": "UMLS:C4280511"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004661",
- "lbl": "Frontalis muscle weakness",
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- "val": "HPO:skoehler"
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- ],
- "definition": {
- "val": "Reduced strength of the frontalis muscle (which is located on the forehead).",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Weakness of forehead muscle",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Weak frontalis muscle"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1859438"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004664",
- "lbl": "Facial midline hemangioma",
- "meta": {
- "definition": {
- "val": "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1862496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004673",
- "lbl": "Decreased facial expression",
- "meta": {
- "definition": {
- "val": "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased facial expression"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862474"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004676",
- "lbl": "Prominent supraorbital arches in adult",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834993"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004679",
- "lbl": "Large tarsal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large ankle bones",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859116"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004681",
- "lbl": "Deep longitudinal plantar crease",
- "meta": {
- "definition": {
- "val": "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.",
- "xrefs": [
- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Foot crease",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Longitudinal groove on soles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859223"
- },
- {
- "val": "UMLS:C4280508"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004684",
- "lbl": "Talipes valgus",
- "meta": {
- "comments": [
- "The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone)."
- ],
- "definition": {
- "val": "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:79807003"
- },
- {
- "val": "UMLS:C0152236"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004686",
- "lbl": "Short third metatarsal",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010673"
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- ],
- "definition": {
- "val": "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Short 3rd long bone of foot",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the 3rd metatarsal bone"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021650"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004688",
- "lbl": "Irregular tarsal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of ankle bones",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855240"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004689",
- "lbl": "Short fourth metatarsal",
- "meta": {
- "definition": {
- "val": "Short fourth metatarsal bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short 4th long bone of foot",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral fourth metatarsal shortening"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short fourth metatarsus"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Short fourth metatarsals",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848514"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004690",
- "lbl": "Thickened Achilles tendon",
- "meta": {
- "definition": {
- "val": "An abnormal thickening of the Achilles tendon.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickened Achilles tendon"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C0919997"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004691",
- "lbl": "2-3 toe syndactyly",
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- "basicPropertyValues": [
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- "val": "HP:0001846"
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- "val": "HP:0001856"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003773"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004683"
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- "val": "HP:0004685"
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- "val": "HP:0004697"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004703"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008086"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008123"
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- ],
- "definition": {
- "val": "Syndactyly with fusion of toes two and three.",
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- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Webbed 2nd and 3rd toes",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "2-3 syndactyly of feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "2-3 toe soft tissue syndactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "2-3 toes syndactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Syndactyly of second and third toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "partial or complete syndactyly 2nd-3rd toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Toe syndactyly, 2-3",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205145001"
- },
- {
- "val": "UMLS:C0432040"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004692",
- "lbl": "4-5 toe syndactyly",
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- "basicPropertyValues": [
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- "val": "HP:0005826"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005861"
- }
- ],
- "definition": {
- "val": "Syndactyly with fusion of toes four and five.",
- "xrefs": [
- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed 4th-5th toes",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Symmetric syndactyly, toes 4 and 5"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Syndactyly of toes 4 and 5"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837836"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004695",
- "lbl": "Calcaneal epiphyseal stippling",
- "meta": {
- "definition": {
- "val": "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1861708"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004696",
- "lbl": "Talipes cavus equinovarus",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1832342"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004699",
- "lbl": "Osteoporotic metatarsal",
- "meta": {
- "definition": {
- "val": "Decrease in mass and density of the metatarsal bones.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1836873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004704",
- "lbl": "Short fifth metatarsal",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0004702"
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- "val": "HP:0010671"
- }
- ],
- "definition": {
- "val": "Short (hypoplastic) fifth metatarsal bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Short 5th long bone of foot",
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- "ORCID:0000-0001-5208-3432"
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- },
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- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the fifth metatarsal bone"
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- ],
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- {
- "val": "UMLS:C4021649"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004712",
- "lbl": "Renal malrotation",
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- "val": "HP:0004730"
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- "comments": [
- "The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation."
- ],
- "definition": {
- "val": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal rotation of the kidneys"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malrotation of the kidney"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:49008000"
- },
- {
- "val": "UMLS:C0238210"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004713",
- "lbl": "Reversible renal failure",
- "meta": {
- "definition": {
- "val": "Acute renal failure with resolution of manifestations.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Reversible renal failure"
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- "pred": "hasExactSynonym",
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- "val": "Reversible kidney failure",
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- "ORCID:0000-0001-6908-9849"
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- "val": "UMLS:C1843276"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004717",
- "lbl": "Axial malrotation of the kidney",
- "meta": {
- "definition": {
- "val": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "UMLS:C4025300"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004719",
- "lbl": "Hyperechogenic kidneys",
- "meta": {
- "comments": [
- "Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright."
- ],
- "definition": {
- "val": "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.",
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- "HPO:probinson",
- "PMID:2259758",
- "PMID:24235286"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Echogenic kidneys"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased echogenicity of the renal parenchyma"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3275899"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004722",
- "lbl": "Thickened glomerular basement membrane",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/RO_0002581",
- "val": "Thickening of the glomerular basement membrane"
- }
- ],
- "comments": [
- "This finding is demonstrated on renal biopsy."
- ],
- "definition": {
- "val": "Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C0445347"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004724",
- "lbl": "Calcium nephrolithiasis",
- "meta": {
- "comments": [
- "The overwhelming majority of renal calculi contain calcium."
- ],
- "definition": {
- "val": "The presence of calcium-containing calculi (stones) in the kidneys.",
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- "HPO:probinson"
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- },
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- "val": "Ca kidney stone"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Ca nephrolithiasis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Ca2+ kidney stone"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Ca2+ nephrolithiasis"
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- {
- "pred": "hasExactSynonym",
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- "val": "Calcium kidney stone",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
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- "val": "UMLS:C1855801"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004727",
- "lbl": "Impaired renal concentrating ability",
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- "comments": [
- "An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation."
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- "definition": {
- "val": "A defect in the ability to concentrate the urine.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004729",
- "lbl": "Acute tubulointerstitial nephritis",
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- "definition": {
- "val": "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.",
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- "HPO:probinson"
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- "val": "MSH:C564356"
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- "val": "UMLS:C1843274"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004732",
- "lbl": "Impaired renal uric acid clearance",
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- "definition": {
- "val": "A reduction in the ability of the kidneys to remove uric acid from the serum.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C1969371"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004734",
- "lbl": "Renal cortical microcysts",
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- "definition": {
- "val": "Cysts of microscopic size confined to the cortex of the kidney.",
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- },
- "synonyms": [
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- "val": "Cortical microcysts"
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- "pred": "hasExactSynonym",
- "val": "Multiple renal cortical microcysts"
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- {
- "pred": "hasExactSynonym",
- "val": "Multiple small renal cortical cysts"
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- ],
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- "val": "UMLS:C1865877"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004736",
- "lbl": "Crossed fused renal ectopia",
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- "definition": {
- "val": "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.",
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- "HPO:probinson"
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- "val": "Crossed-fused renal ectopia"
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- "pred": "hasExactSynonym",
- "val": "Ectopic kidney with fusion"
- }
- ],
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- "val": "UMLS:C1835796"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004737",
- "lbl": "Global glomerulosclerosis",
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- "comments": [
- "Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus)."
- ],
- "definition": {
- "val": "Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.",
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- "Eurenomics:ewuehl",
- "KPMP:arosenberg"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1865276"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004742",
- "lbl": "Abnormal renal collecting system morphology",
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- "val": "HP:0004731"
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- "definition": {
- "val": "An abnormality of the renal collecting system.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal collecting system"
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the renal collecting system"
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- "pred": "hasExactSynonym",
- "val": "Renal collecting system anomalies"
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- "val": "UMLS:C1851303"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004743",
- "lbl": "Chronic tubulointerstitial nephritis",
- "meta": {
- "definition": {
- "val": "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:60926001"
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- "val": "UMLS:C0238304"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004746",
- "lbl": "Glomerular subendothelial electron-dense deposits",
- "meta": {
- "comments": [
- "Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease."
- ],
- "definition": {
- "val": "Electron dense deposits at the glomerular basement membrane,",
- "xrefs": [
- "Eurenomics:ewuehl",
- "PMID:20301598",
- "PMID:30085237"
- ]
- },
- "synonyms": [
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- "pred": "hasRelatedSynonym",
- "val": "Dense deposit disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Membranoproliferative glomerulonephritis type II"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015432"
- },
- {
- "val": "SNOMEDCT_US:59479006"
- },
- {
- "val": "UMLS:C0268743"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004749",
- "lbl": "Atrial flutter",
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- "comments": [
- "Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent."
- ],
- "definition": {
- "val": "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.",
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- "xrefs": [
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- "val": "MSH:D001282"
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- {
- "val": "SNOMEDCT_US:5370000"
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- {
- "val": "UMLS:C0004239"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004751",
- "lbl": "Paroxysmal ventricular tachycardia",
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- "val": "HP:0005141"
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- ],
- "definition": {
- "val": "Episodes of ventricular tachycardia that have a sudden onset and ending."
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- "pred": "hasExactSynonym",
- "val": "Episodes of ventricular tachycardia"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:66657009"
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- {
- "val": "UMLS:C0030591"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004752",
- "lbl": "Congenital atrioventricular dissociation",
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- "definition": {
- "val": "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.",
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- "HPO:probinson"
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- "val": "UMLS:C4025299"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004754",
- "lbl": "Permanent atrial fibrillation",
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- "comments": [
- "The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic."
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- "definition": {
- "val": "Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.",
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- "HPO:probinson",
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- "pred": "hasRelatedSynonym",
- "val": "Chronic atrial fibrillation"
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- ],
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- "val": "SNOMEDCT_US:426749004"
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- "val": "SNOMEDCT_US:440028005"
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- "val": "UMLS:C0694539"
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- "val": "UMLS:C2586056"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004755",
- "lbl": "Supraventricular tachycardia",
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- "A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular."
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- "definition": {
- "val": "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.",
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- "DDD:dbrown",
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- "val": "SVT"
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- {
- "pred": "hasExactSynonym",
- "val": "Supraventricular tachyarrhythmia"
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- ],
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- "val": "MSH:D013617"
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- "val": "SNOMEDCT_US:6456007"
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- "val": "UMLS:C0039240"
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- "val": "UMLS:C1698480"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004756",
- "lbl": "Ventricular tachycardia",
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- "comments": [
- "Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease."
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- "definition": {
- "val": "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)."
- },
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- "val": "Fyler:7160"
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- "val": "MSH:D017180"
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- "val": "SNOMEDCT_US:25569003"
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- "val": "UMLS:C0042514"
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- "id": "http://purl.obolibrary.org/obo/HP_0004757",
- "lbl": "Paroxysmal atrial fibrillation",
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- "val": "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.",
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- "HPO:probinson",
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- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
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- {
- "pred": "hasExactSynonym",
- "val": "Intermittent atrial fibrillation"
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- {
- "pred": "hasExactSynonym",
- "val": "Atrial fibrillation, paroxysmal",
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- "HPO:skoehler"
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- "val": "MSH:D001281"
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- "val": "SNOMEDCT_US:282825002"
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- "val": "UMLS:C0235480"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004758",
- "lbl": "Effort-induced polymorphic ventricular tachycardia",
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- "definition": {
- "val": "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.",
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- "PMID:15913575"
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- },
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- "pred": "hasExactSynonym",
- "val": "Catecholaminergic polymorphic ventricular tachycardia"
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- "pred": "hasExactSynonym",
- "val": "Exercise-induced polymorphic ventricular tachycardia"
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- "val": "UMLS:C4025298"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004759",
- "lbl": "obsolete Nodular calcific aortic valve disease",
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- "lbl": "obsolete Congenital septal defect",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004761",
- "lbl": "Post-angioplasty coronary artery restenosis",
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- "val": "UMLS:C2676505"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004762",
- "lbl": "Hypoplasia of right ventricle",
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- "val": "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.",
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- "MP:0010422"
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- "synonyms": [
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- "val": "Small right heart chamber",
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- "val": "Heart right ventricle hypoplasia",
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- "val": "Fyler:1821"
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- "PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT)."
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- "definition": {
- "val": "An episodic form of supraventricular tachycardia with abrupt onset and termination.",
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- "PMID:18025404"
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- },
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- "val": "UMLS:C0030590"
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- "lbl": "Sparse anterior scalp hair",
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- "HPO:probinson"
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- "lbl": "Premature graying of body hair",
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004785",
- "lbl": "Malrotation of colon",
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- "val": "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.",
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- "type": "CLASS"
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- "lbl": "Jejunal diverticula",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004787",
- "lbl": "Fulminant hepatitis",
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- "val": "UMLS:C0302809"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004788",
- "lbl": "Intestinal lymphedema",
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- "definition": {
- "val": "Fluid retention and edema in the intestine caused by a compromised lymphatic system.",
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- "val": "UMLS:C4025292"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004789",
- "lbl": "Lactose intolerance",
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- "definition": {
- "val": "An inability to digest lactose.",
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- "val": "Lactose intolerance"
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- "pred": "hasExactSynonym",
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- "val": "Milk intolerance",
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- }
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- "val": "MSH:D007787"
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- {
- "val": "SNOMEDCT_US:267425008"
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- {
- "val": "SNOMEDCT_US:700094005"
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- "val": "UMLS:C0022951"
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- "type": "CLASS"
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- "lbl": "Esophageal ulceration",
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- "id": "http://purl.obolibrary.org/obo/HP_0004797",
- "lbl": "Multiple small bowel atresias",
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- "val": "UMLS:C1854495"
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- "lbl": "Jejunoileal diverticula",
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- "comments": [
- "Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy."
- ],
- "definition": {
- "val": "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.",
- "xrefs": [
- "DDD:kfreeson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Post-transfusion purpura"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562868"
- },
- {
- "val": "SNOMEDCT_US:73162004"
- },
- {
- "val": "UMLS:C0398648"
- },
- {
- "val": "UMLS:C1868252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004814",
- "lbl": "Fava bean-induced hemolytic anemia",
- "meta": {
- "comments": [
- "Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations."
- ],
- "definition": {
- "val": "A kind of hemolytic anemia that is induced by the ingestion of fava beans.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Fava bean-induced hemolytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hemolytic anaemia following ingestion of fava beans"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hemolytic anemia following ingestion of fava beans"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021648"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004817",
- "lbl": "Drug-sensitive hemolytic anemia",
- "meta": {
- "definition": {
- "val": "A form of hemolytic anemia that is triggered by ingestion of certain drugs.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Drug-sensitive hemolytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025289"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004818",
- "lbl": "Paroxysmal nocturnal hemoglobinuria",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Paroxysmal nocturnal haemoglobinuria",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006457"
- },
- {
- "val": "SNOMEDCT_US:1963002"
- },
- {
- "val": "UMLS:C0024790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004819",
- "lbl": "Normocytic hypoplastic anemia",
- "meta": {
- "definition": {
- "val": "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Normocytic hypoplastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835875"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004820",
- "lbl": "Acute myelomonocytic leukemia",
- "meta": {
- "definition": {
- "val": "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.",
- "xrefs": [
- "NCIT:C7463"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute myelomonocytic leukaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015479"
- },
- {
- "val": "SNOMEDCT_US:110005000"
- },
- {
- "val": "SNOMEDCT_US:277601005"
- },
- {
- "val": "SNOMEDCT_US:30962008"
- },
- {
- "val": "UMLS:C0023479"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004821",
- "lbl": "Hypersegmentation of neutrophil nuclei",
- "meta": {
- "comments": [
- "Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies."
- ],
- "definition": {
- "val": "An excessive division of the lobes of the nucleus of a neutrophil.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypermature neutrophils"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypersegmentation of neutrophil nuclei in peripheral blood",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-8169-9049"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025288"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004822",
- "lbl": "Atypical elliptocytosis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:C565598"
- },
- {
- "val": "UMLS:C1857010"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004823",
- "lbl": "Anisopoikilocytosis",
- "meta": {
- "definition": {
- "val": "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C2675920"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004825",
- "lbl": "Increased hemoglobin oxygen affinity",
- "meta": {
- "definition": {
- "val": "An abnormal increase in the binding affinity of hemoglobin for oxygen.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased Hb O2 affinity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased Hb oxygen affinity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased hemoglobin O2 affinity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Increased haemoglobin O2 affinity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased haemoglobin oxygen affinity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021647"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004826",
- "lbl": "Folate-unresponsive megaloblastic anemia",
- "meta": {
- "definition": {
- "val": "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Folate-unresponsive megaloblastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025287"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004828",
- "lbl": "Refractory anemia with ringed sideroblasts",
- "meta": {
- "definition": {
- "val": "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Refractory anaemia with ringed sideroblasts"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myelodysplasia with sideroblastosis"
- }
- ],
- "xrefs": [
- {
- "val": "ICD-O:M9982/3"
- },
- {
- "val": "SNOMEDCT_US:109998009"
- },
- {
- "val": "SNOMEDCT_US:128846006"
- },
- {
- "val": "UMLS:C1264195"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004831",
- "lbl": "Recurrent thromboembolism",
- "meta": {
- "definition": {
- "val": "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Recurrent thromboembolic disease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0749398"
- },
- {
- "val": "UMLS:C4025286"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004835",
- "lbl": "Microspherocytosis",
- "meta": {
- "definition": {
- "val": "The presence of erythrocytes that are sphere-shaped and reduced in size.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004836",
- "lbl": "Acute promyelocytic leukemia",
- "meta": {
- "definition": {
- "val": "A type of acute myeloid leukemia in which abnormal promyelocytes predominate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute promyelocytic leukaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015473"
- },
- {
- "val": "SNOMEDCT_US:110004001"
- },
- {
- "val": "SNOMEDCT_US:28950004"
- },
- {
- "val": "UMLS:C0023487"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004839",
- "lbl": "Pyropoikilocytosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004805"
- }
- ],
- "definition": {
- "val": "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.",
- "xrefs": [
- "HPO:probinson",
- "PMID:16304353"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "hereditary pyropoikilocytosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563004"
- },
- {
- "val": "SNOMEDCT_US:9434008"
- },
- {
- "val": "UMLS:C0520739"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004840",
- "lbl": "Hypochromic microcytic anemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004842"
- }
- ],
- "definition": {
- "val": "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypochromic microcytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypochromic, microcytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypochromic, microcytic anemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536357"
- },
- {
- "val": "SNOMEDCT_US:44666001"
- },
- {
- "val": "UMLS:C0271901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004841",
- "lbl": "Reduced factor XII activity",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0005514"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005551"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008286"
- }
- ],
- "definition": {
- "val": "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Factor XII deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hageman factor deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005175"
- },
- {
- "val": "SNOMEDCT_US:46981006"
- },
- {
- "val": "UMLS:C0015526"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004844",
- "lbl": "Coombs-positive hemolytic anemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003539"
- }
- ],
- "comments": [
- "The Coombs test measures a coating of immunoglobulin or complement on the red cell surface."
- ],
- "definition": {
- "val": "A type of hemolytic anemia in which the Coombs test is positive.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Coombs-positive hemolytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Direct Coombs positive"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:74789008"
- },
- {
- "val": "UMLS:C0520736"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004845",
- "lbl": "Acute monocytic leukemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004833"
- }
- ],
- "definition": {
- "val": "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.",
- "xrefs": [
- "PMID:24904835"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "AML-M5"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "AMoL"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute monoblastic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute monocytic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Acute monoblastic leukemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007948"
- },
- {
- "val": "SNOMEDCT_US:22331004"
- },
- {
- "val": "SNOMEDCT_US:413441006"
- },
- {
- "val": "UMLS:C0023465"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004846",
- "lbl": "Prolonged bleeding after surgery",
- "meta": {
- "definition": {
- "val": "Bleeding that persists longer than the normal time following a surgical procedure.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive bleeding during surgery"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prolonged bleeding after surgery"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Protracted bleeding after surgery"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021646"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004848",
- "lbl": "Ph-positive acute lymphoblastic leukemia",
- "meta": {
- "definition": {
- "val": "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.",
- "xrefs": [
- "PMID:21472706"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Ph-positive acute lymphoblastic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Philadelphia-positive acute lymphoblastic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Philadelphia-positive acute lymphoblastic leukemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:425688002"
- },
- {
- "val": "SNOMEDCT_US:426955004"
- },
- {
- "val": "UMLS:C1960397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004850",
- "lbl": "Recurrent deep vein thrombosis",
- "meta": {
- "definition": {
- "val": "Repeated episodes of the formation of a blot clot in a deep vein.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent deep vein blood clot",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent venous thrombosis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:710167004"
- },
- {
- "val": "UMLS:C1735901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004851",
- "lbl": "Folate-responsive megaloblastic anemia",
- "meta": {
- "definition": {
- "val": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Folate-responsive megaloblastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2749656"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004852",
- "lbl": "Reduced leukocyte alkaline phosphatase",
- "meta": {
- "definition": {
- "val": "Decreased alkaline phosphatase measured within leukocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Reduced leukocyte ALP"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Low leukocyte alkaline phosphatase"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850780"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004854",
- "lbl": "Intermittent thrombocytopenia",
- "meta": {
- "definition": {
- "val": "Reduced platelet count that occurs sporadically, i.e., it comes and goes.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8384898"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1839167"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004855",
- "lbl": "Reduced protein S activity",
- "meta": {
- "comments": [
- "Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis."
- ],
- "definition": {
- "val": "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "val": "Protein S deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018455"
- },
- {
- "val": "SNOMEDCT_US:1563006"
- },
- {
- "val": "UMLS:C0242666"
- },
- {
- "val": "UMLS:C4025284"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004856",
- "lbl": "Normochromic microcytic anemia",
- "meta": {
- "definition": {
- "val": "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Normochromic microcytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:4984008"
- },
- {
- "val": "UMLS:C0271902"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004857",
- "lbl": "Hyperchromic macrocytic anemia",
- "meta": {
- "definition": {
- "val": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hyperchromic macrocytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3854594"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004859",
- "lbl": "Amegakaryocytic thrombocytopenia",
- "meta": {
- "definition": {
- "val": "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:234482009"
- },
- {
- "val": "UMLS:C0398639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004860",
- "lbl": "Thiamine-responsive megaloblastic anemia",
- "meta": {
- "definition": {
- "val": "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Thiamine-responsive megaloblastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:12907000"
- },
- {
- "val": "UMLS:C0271972"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004861",
- "lbl": "Refractory macrocytic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Refractory macrocytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2675059"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004863",
- "lbl": "Compensated hemolytic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Compensated hemolytic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025283"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004864",
- "lbl": "Refractory sideroblastic anemia",
- "meta": {
- "definition": {
- "val": "A type of sideroblastic anemia that is not responsive to treatment.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Refractory sideroblastic anaemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000756"
- },
- {
- "val": "SNOMEDCT_US:41841004"
- },
- {
- "val": "UMLS:C0002896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004866",
- "lbl": "Impaired ADP-induced platelet aggregation",
- "meta": {
- "definition": {
- "val": "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.",
- "xrefs": [
- "HPO:probinson",
- "PMID:11413156"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025282"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004870",
- "lbl": "Chronic hemolytic anemia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004815"
- }
- ],
- "definition": {
- "val": "An chronic form of hemolytic anemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Chronic hemolytic anaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "hemolytic anemia, chronic"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:707480001"
- },
- {
- "val": "UMLS:C1387532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004871",
- "lbl": "Perineal fistula",
- "meta": {
- "comments": [
- "The perineum is the diamond-shaped region of the body between the pubic arch and the anus."
- ],
- "definition": {
- "val": "The presence of a fistula between the bowel and the perineum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:284077005"
- },
- {
- "val": "UMLS:C0561921"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004872",
- "lbl": "Incisional hernia",
- "meta": {
- "definition": {
- "val": "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent abdominal hernia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D000069290"
- },
- {
- "val": "SNOMEDCT_US:236037000"
- },
- {
- "val": "SNOMEDCT_US:241556001"
- },
- {
- "val": "UMLS:C0267716"
- },
- {
- "val": "UMLS:C4021645"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004875",
- "lbl": "Neonatal inspiratory stridor",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025281"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004876",
- "lbl": "Spontaneous neonatal pneumothorax",
- "meta": {
- "definition": {
- "val": "Pneumothorax occurring neonatally without traumatic injury to the chest or lung.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Neonatal pneumothorax"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857021"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004878",
- "lbl": "Intercostal muscle weakness",
- "meta": {
- "definition": {
- "val": "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Muscle weakness between ribs",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dependence on diaphragmatic breathing"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0240017"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004879",
- "lbl": "Intermittent hyperventilation",
- "meta": {
- "definition": {
- "val": "Episodic hyperventilation.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intermittent overbreathing",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Episodic hyperventilation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:423427003"
- },
- {
- "val": "UMLS:C1828017"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004880",
- "lbl": "Respiratory infections in early life",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025280"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004881",
- "lbl": "Episodic hypoventilation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Episodic slow breathing",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Episodic under breathing",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844946"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004885",
- "lbl": "Episodic respiratory distress",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Episodic difficulty breathing",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "respiratory distress, episodic"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844945"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004886",
- "lbl": "Congenital laryngeal stridor",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:55490007"
- },
- {
- "val": "UMLS:C0265763"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004887",
- "lbl": "Respiratory failure requiring assisted ventilation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004883"
- }
- ],
- "definition": {
- "val": "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.",
- "xrefs": [
- "ORCID:0000-0002-7440-8864",
- "PMID:18710593",
- "PMID:28620428"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Respiratory distress necessitating mechanical ventilation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Respiratory distress requiring endotracheal intubation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Respiratory distress requiring mechanical ventilation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025279"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004889",
- "lbl": "Intermittent episodes of respiratory insufficiency due to muscle weakness",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3807025"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004890",
- "lbl": "Elevated pulmonary artery pressure",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004958"
- }
- ],
- "definition": {
- "val": "An abnormally elevated blood pressure in the circulation of the pulmonary artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "increased pulmonary artery pressure",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated lung artery pressure"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3805917"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004891",
- "lbl": "Recurrent infections due to aspiration",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration."
- },
- "xrefs": [
- {
- "val": "UMLS:C3806285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004894",
- "lbl": "Laryngotracheal stenosis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3806280"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004897",
- "lbl": "Stress/infection-induced lactic acidosis",
- "meta": {
- "definition": {
- "val": "A form of lactic acidemia that occurs in relation to stress or infection.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Metabolic crises during febrile infections"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025278"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004898",
- "lbl": "Persistent lactic acidosis",
- "meta": {
- "definition": {
- "val": "A continuous form of lactic acidemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3554538"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004900",
- "lbl": "Severe lactic acidosis",
- "meta": {
- "definition": {
- "val": "A severe form of lactic acidemia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1839436"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004901",
- "lbl": "Exercise-induced lactic acidemia",
- "meta": {
- "definition": {
- "val": "A form of lactic acidemia that occurs following exercise or exertion.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15308499"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Exercise-induced lactic acidosis",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025277"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004902",
- "lbl": "Congenital lactic acidosis",
- "meta": {
- "definition": {
- "val": "A form of lactic acidemia with congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004904",
- "lbl": "Maturity-onset diabetes of the young",
- "meta": {
- "definition": {
- "val": "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "MODY",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Maturity onset diabetes of the young"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562772"
- },
- {
- "val": "SNOMEDCT_US:609561005"
- },
- {
- "val": "UMLS:C0342276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004905",
- "lbl": "Low levels of vitamin A",
- "meta": {
- "definition": {
- "val": "A reduced concentration of vitamin A."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Vitamin A deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014802"
- },
- {
- "val": "SNOMEDCT_US:72000004"
- },
- {
- "val": "UMLS:C0042842"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004906",
- "lbl": "Hypernatremic dehydration",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:427784006"
- },
- {
- "val": "UMLS:C1850544"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004909",
- "lbl": "Hypokalemic hypochloremic metabolic alkalosis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C0740896"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004910",
- "lbl": "Bicarbonate-wasting renal tubular acidosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "HCO3-wasting renal tubular acidosis"
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- "pred": "hasExactSynonym",
- "val": "Renal bicarbonate wasting"
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- {
- "val": "UMLS:C1858626"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004911",
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- "val": "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004912",
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- "val": "MSH:D063730"
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- "id": "http://purl.obolibrary.org/obo/HP_0004913",
- "lbl": "Intermittent lactic acidemia",
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- "HPO:probinson"
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- "val": "UMLS:C1844917"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004914",
- "lbl": "Recurrent infantile hypoglycemia",
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- "val": "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.",
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- "HPO:probinson"
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- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-6908-9849"
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C4021644"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004915",
- "lbl": "Impairment of galactose metabolism",
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- "HPO:probinson"
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- {
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- "HPO:skoehler"
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- "val": "UMLS:C4021643"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004916",
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- "val": "UMLS:C4025275"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004918",
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- "PMID:31418093"
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- {
- "pred": "hasExactSynonym",
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- "val": "UMLS:C1969073"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004919",
- "lbl": "Galactose intolerance",
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- "val": "MSH:D005693"
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- "val": "SNOMEDCT_US:190749000"
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- "val": "UMLS:C0016952"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004920",
- "lbl": "Phenylpyruvic acidemia",
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- "val": "UMLS:C1849926"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004921",
- "lbl": "Abnormal magnesium concentration",
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- "val": "An abnormality of magnesium ion homeostasis.",
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- },
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- "pred": "hasExactSynonym",
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- "pred": "hasRelatedSynonym",
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- "val": "UMLS:C4020826"
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- "val": "UMLS:C4025274"
- }
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004922",
- "lbl": "Atypical hyperphenylalaninemia",
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- {
- "val": "UMLS:C4025273"
- }
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004923",
- "lbl": "Hyperphenylalaninemia",
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- "val": "An increased concentration of L-phenylalanine in the blood.",
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- "HPO:probinson"
- ]
- },
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- {
- "val": "MSH:D010661"
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- "val": "SNOMEDCT_US:68528007"
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- "val": "UMLS:C0751435"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004924",
- "lbl": "Abnormal oral glucose tolerance",
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- "definition": {
- "val": "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- {
- "pred": "hasExactSynonym",
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- {
- "val": "UMLS:C1847425"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004925",
- "lbl": "Chronic lactic acidosis",
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- ],
- "definition": {
- "val": "A chronic form of lactic acidemia.",
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- "HPO:probinson"
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- },
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- {
- "val": "UMLS:C1839437"
- }
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004926",
- "lbl": "Orthostatic hypotension due to autonomic dysfunction",
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- {
- "val": "UMLS:C1868528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004927",
- "lbl": "Pulmonary artery dilatation",
- "meta": {
- "definition": {
- "val": "An abnormal widening of the diameter of the pulmonary artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:251047005"
- },
- {
- "val": "UMLS:C0428851"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004928",
- "lbl": "obsolete Peripheral arterial stenosis",
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004929",
- "lbl": "obsolete Coronary atherosclerosis",
- "meta": {
- "basicPropertyValues": [
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004930",
- "lbl": "Abnormality of the pulmonary vasculature",
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- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the lung blood vessels",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "UMLS:C4025271"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004931",
- "lbl": "Arteriosclerosis of small cerebral arteries",
- "meta": {
- "definition": {
- "val": "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hardened artery wall in small cerebral arteries",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025270"
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- {
- "val": "UMLS:C4280505"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004933",
- "lbl": "Ascending aortic dissection",
- "meta": {
- "comments": [
- "According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch."
- ],
- "definition": {
- "val": "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- {
- "pred": "hasExactSynonym",
- "val": "Type A aortic dissection"
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- {
- "val": "UMLS:C1836653"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004934",
- "lbl": "Vascular calcification",
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- "definition": {
- "val": "Abnormal calcification of the vasculature.",
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- "HPO:probinson"
- ]
- },
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- {
- "val": "MSH:D061205"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004935",
- "lbl": "Pulmonary artery atresia",
- "meta": {
- "comments": [
- "Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation."
- ],
- "definition": {
- "val": "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.",
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- "HPO:probinson"
- ]
- },
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- "val": "SNOMEDCT_US:204443008"
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- "val": "UMLS:C0265908"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004936",
- "lbl": "Venous thrombosis",
- "meta": {
- "definition": {
- "val": "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-6908-9849"
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- ],
- "xrefs": [
- {
- "val": "MSH:D020246"
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- "val": "SNOMEDCT_US:111293003"
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- "val": "UMLS:C0042487"
- }
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004937",
- "lbl": "Pulmonary artery aneurysm",
- "meta": {
- "definition": {
- "val": "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:194892009"
- },
- {
- "val": "UMLS:C0155676"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004938",
- "lbl": "Tortuous cerebral arteries",
- "meta": {
- "definition": {
- "val": "Excessive bending, twisting, and winding of a cerebral artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Twisted cerebral arteries",
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- "ORCID:0000-0001-6908-9849"
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- {
- "val": "UMLS:C1836791"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004940",
- "lbl": "Generalized arterial calcification",
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- "definition": {
- "val": "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.",
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- },
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004941",
- "lbl": "Extrahepatic portal hypertension",
- "meta": {
- "comments": [
- "Hypertension in the portal venous tree proper.\n\nprevious def: 'has part' some \n('increased pressure' and ('inheres in' some \n('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "Increased pressure in the pre-hepatic portal vein.",
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- "HPO:probinson"
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- "val": "UMLS:C4025268"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004942",
- "lbl": "Aortic aneurysm",
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- "Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym."
- ],
- "definition": {
- "val": "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter."
- },
- "synonyms": [
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- "val": "Bulge in wall of large artery that carries blood away from heart",
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- "https://orcid.org/0000-0002-6548-5200"
- ]
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- "pred": "hasExactSynonym",
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- "val": "Fyler:2301"
- },
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- "val": "Fyler:2708"
- },
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- {
- "val": "SNOMEDCT_US:67362008"
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- "val": "UMLS:C0003486"
- }
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004943",
- "lbl": "Accelerated atherosclerosis",
- "meta": {
- "definition": {
- "val": "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.",
- "xrefs": [
- "PMID:29040156"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Accelerated plaque build-up in arteries",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
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- {
- "val": "UMLS:C1849618"
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- "id": "http://purl.obolibrary.org/obo/HP_0004944",
- "lbl": "Dilatation of the cerebral artery",
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- }
- ],
- "comments": [
- "Aneurysm is considered a severe form of dilatation."
- ],
- "definition": {
- "val": "The presence of a localized dilatation or ballooning of a cerebral artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Intracranial aneurysm"
- },
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- "pred": "hasNarrowSynonym",
- "val": "Cerebral aneurysm"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Cerebral artery aneurysm"
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- "val": "MSH:D002532"
- },
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- "val": "SNOMEDCT_US:128608001"
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- "val": "UMLS:C0751003"
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- "val": "UMLS:C1290398"
- }
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004945",
- "lbl": "Extracranial internal carotid artery dissection",
- "meta": {
- "definition": {
- "val": "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025267"
- }
- ]
- },
- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0004947",
- "lbl": "Arteriovenous fistula",
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- "val": "An abnormal connection between an artery and vein.",
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- "https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Arteriovenous fistulas"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001164"
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- {
- "val": "SNOMEDCT_US:128617001"
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- {
- "val": "SNOMEDCT_US:439470001"
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- "val": "UMLS:C0003855"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004948",
- "lbl": "Vascular tortuosity",
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- "definition": {
- "val": "Abnormal twisting of arteries or veins.",
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- "PMID:22433458"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Twisted blood vessels",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
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- {
- "val": "UMLS:C2673776"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004950",
- "lbl": "Peripheral arterial stenosis",
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- "val": "HP:0004973"
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- "definition": {
- "val": "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication."
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- "pred": "hasRelatedSynonym",
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- "pred": "hasRelatedSynonym",
- "val": "Occlusive vascular disease"
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- "pred": "hasRelatedSynonym",
- "val": "Peripheral artery occlusive disease"
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- "pred": "hasRelatedSynonym",
- "val": "Peripheral vascular disease",
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- "val": "MSH:D016491"
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- {
- "val": "MSH:D058729"
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- "val": "SNOMEDCT_US:399957001"
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- "val": "SNOMEDCT_US:400047006"
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- "val": "UMLS:C0085096"
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- "val": "UMLS:C1704436"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004952",
- "lbl": "Pulmonary arteriovenous fistulas",
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- "definition": {
- "val": "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.",
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- "PMID:27122941"
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- },
- "xrefs": [
- {
- "val": "MSH:C562404"
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- {
- "val": "SNOMEDCT_US:111289009"
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- {
- "val": "UMLS:C0155675"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004953",
- "lbl": "obsolete Dilatation of abdominal aorta",
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- "val": "HP:0005112"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004954",
- "lbl": "obsolete Dilatation of the descending aorta",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004955",
- "lbl": "Generalized arterial tortuosity",
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- "definition": {
- "val": "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised arterial tortuosity"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised twisted arteries"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Arterial tortuosity, generalised"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Generalized twisted arteries",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Arterial tortuosity, general",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Arterial tortuosity, generalized",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836651"
- },
- {
- "val": "UMLS:C3279191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004959",
- "lbl": "Descending thoracic aorta aneurysm",
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- "val": "HP:0004954"
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- ],
- "definition": {
- "val": "An abnormal localized widening (dilatation) of the descending thoracic aorta."
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- {
- "pred": "hasBroadSynonym",
- "val": "Dilatation of the descending thoracic aorta"
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- "xrefs": [
- {
- "val": "Fyler:2754"
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- {
- "val": "UMLS:C4025266"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004960",
- "lbl": "Absent pulmonary artery",
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- "comments": [
- "This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP."
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- "definition": {
- "val": "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.",
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- "pred": "hasExactSynonym",
- "val": "Missing pulmonary artery",
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- "xrefs": [
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- "val": "SNOMEDCT_US:86252004"
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- "val": "UMLS:C0265905"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004961",
- "lbl": "Pulmonary artery sling",
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- "definition": {
- "val": "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.",
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- "id": "http://purl.obolibrary.org/obo/HP_0004962",
- "lbl": "Thoracic aorta calcification",
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- "definition": {
- "val": "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.",
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- "val": "UMLS:C1969292"
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- "id": "http://purl.obolibrary.org/obo/HP_0004963",
- "lbl": "Calcification of the aorta",
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- "Note that the phrase \"aortic calcification\" is mainly used to describe calcification of the aortic valve rather than of the aorta itself."
- ],
- "definition": {
- "val": "Calcification, that is, pathological deposition of calcium salts in the aorta.",
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- "HPO:probinson"
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- {
- "val": "UMLS:C1096249"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004964",
- "lbl": "Pulmonary arterial medial hypertrophy",
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- "val": "HP:0004939"
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- ],
- "definition": {
- "val": "Increase in mass of the tunica media of the arteries in the pulmonary circulation.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypertrophy of the pulmonary artery wall"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1504382"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004966",
- "lbl": "Medial calcification of large arteries",
- "meta": {
- "comments": [
- "GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877"
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- "definition": {
- "val": "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C4025265"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004968",
- "lbl": "Recurrent cerebral hemorrhage",
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- "definition": {
- "val": "Recurrent bleeding into the parenchyma of the brain.",
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- },
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- "val": "Recurrent cerebral haemorrhage"
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- {
- "pred": "hasExactSynonym",
- "val": "Recurrent hemorrhagic stroke",
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- "xrefs": [
- {
- "val": "UMLS:C4025264"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0004969",
- "lbl": "Peripheral pulmonary artery stenosis",
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- "definition": {
- "val": "Stenosis of a peripheral branch of the pulmonary artery.",
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- "synonyms": [
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Peripheral pulmonic stenosis"
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- "pred": "hasExactSynonym",
- "val": "peripheral pulmonary stenosis"
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- ],
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- "val": "UMLS:C0345030"
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- "id": "http://purl.obolibrary.org/obo/HP_0004970",
- "lbl": "Ascending tubular aorta aneurysm",
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- "val": "HP:0005128"
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- "comments": [
- "Aneurysm is considered a severe form of dilatation."
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- "definition": {
- "val": "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta."
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- "pred": "hasExactSynonym",
- "val": "Aneurysm of the ascending tubular aorta"
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- "pred": "hasExactSynonym",
- "val": "Ascending aortic aneurysm"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "id": "http://purl.obolibrary.org/obo/HP_0004971",
- "lbl": "Pulmonary artery hypoplasia",
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- "id": "http://purl.obolibrary.org/obo/HP_0004972",
- "lbl": "Elevated mean arterial pressure",
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- "val": "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.",
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- "lbl": "Coarctation of abdominal aorta",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004975",
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- "val": "Flaring of distal femur.",
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- "val": "Erlenmeyer flask deformity of distal femur"
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- "pred": "hasExactSynonym",
- "val": "Erlenmeyer flask femora"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004976",
- "lbl": "Knee dislocation",
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- "val": "Dislocations of the knees"
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- "pred": "hasExactSynonym",
- "val": "Knee dislocations"
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- "val": "MSH:D031221"
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- "val": "SNOMEDCT_US:58320001"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0004977",
- "lbl": "Bilateral radial aplasia",
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- "definition": {
- "val": "Missing radius bone on both sides associated with congenital failure of development.",
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- "type": "CLASS"
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- "lbl": "Metaphyseal sclerosis",
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- "id": "http://purl.obolibrary.org/obo/HP_0004986",
- "lbl": "obsolete Rudimentary to absent fibulae",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004987",
- "lbl": "Mesomelic leg shortening",
- "meta": {
- "definition": {
- "val": "Shortening of the middle parts of the leg in relation to the upper and terminal segments.",
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- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Mesomelia of the lower limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mesomelic lower limb shortening"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969178"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004990",
- "lbl": "Epiphyseal streaking",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1858039"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004991",
- "lbl": "Rhizomelic arm shortening",
- "meta": {
- "definition": {
- "val": "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1969532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004993",
- "lbl": "Slender long bones with narrow diaphyses",
- "meta": {
- "definition": {
- "val": "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slender long bones with narrow shaft",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2675547"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0004997",
- "lbl": "Multicentric ossification of proximal humeral epiphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1857192"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005001",
- "lbl": "Recurrent patellar dislocation",
- "meta": {
- "definition": {
- "val": "Patellar dislocation occurring repeated times.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent dislocation of patellas"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:202246002"
- },
- {
- "val": "UMLS:C0409412"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005003",
- "lbl": "Aplasia/Hypoplasia of the capital femoral epiphysis",
- "meta": {
- "definition": {
- "val": "Absence or underdevelopment of the proximal epiphysis of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small end part of innermost thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped end part of innermost thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025261"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005004",
- "lbl": "Flattened proximal radial epiphyses",
- "meta": {
- "definition": {
- "val": "An abnormally flat form of the proximal epiphysis of the radius.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1849065"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005005",
- "lbl": "Femoral bowing present at birth, straightening with time",
- "meta": {
- "comments": [
- "This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement."
- ],
- "definition": {
- "val": "Congenital onset bending or abnormal curvature of the femur that normalizes with age.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowing of thighbone at birth, straightening with time",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833754"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005008",
- "lbl": "Large joint dislocations",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Large joint dislocations"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025260"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005009",
- "lbl": "Dumbbell-shaped humerus",
- "meta": {
- "definition": {
- "val": "The humerus is shortened and displays flaring (widening) of the metaphyses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dumbbell-shaped long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025259"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005010",
- "lbl": "Osteomyelitis leading to amputation due to slow healing fractures",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1864975"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005011",
- "lbl": "Mesomelic arm shortening",
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- "val": "HP:0006455"
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- ],
- "definition": {
- "val": "Shortening of the middle parts of the arm in relation to the upper and terminal segments.",
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- "HPO:sdoelken"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Mesomelia of the upper limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Upper limb brachymesomelia"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1862087"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005013",
- "lbl": "Dysplastic distal radial epiphyses",
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- "definition": {
- "val": "Abnormally developed (dysplastic) distal epiphysis of the radius.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1862131"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005017",
- "lbl": "Polyarticular chondrocalcinosis",
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- {
- "val": "UMLS:C4025258"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005019",
- "lbl": "Diaphyseal thickening",
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- {
- "pred": "hasExactSynonym",
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- "val": "Thickening of shaft or central part of long bones",
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- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835473"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005021",
- "lbl": "Bilateral elbow dislocations",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3278429"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005025",
- "lbl": "Hypoplastic distal humeri",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the distal portion of the humerus.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1968607"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005026",
- "lbl": "Mesomelic/rhizomelic limb shortening",
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- "xrefs": [
- {
- "val": "UMLS:C1866239"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005028",
- "lbl": "Widened proximal tibial metaphyses",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide innermost wide portion of shankbone bone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide innermost wide portion of shinbone bone",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
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- "val": "UMLS:C1836187"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005033",
- "lbl": "Distal ulnar hypoplasia",
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- ],
- "definition": {
- "val": "Underdevelopment of the distal portion of the ulna.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Distal shortening of ulna"
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- "pred": "hasExactSynonym",
- "val": "Hypoplastic distal ulna"
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- ],
- "xrefs": [
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- "val": "UMLS:C1833145"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005035",
- "lbl": "Shortening of all phalanges of the toes",
- "meta": {
- "definition": {
- "val": "Developmental hypoplasia (shortening) of all phalanges of the foot.",
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- },
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- {
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- "val": "Short toe bones",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- "val": "UMLS:C4025257"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005036",
- "lbl": "Unilateral ulnar hypoplasia",
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- "definition": {
- "val": "Underdevelopment of the ulna on only one side.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C1837832"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005037",
- "lbl": "Proximal radio-ulnar synostosis",
- "meta": {
- "definition": {
- "val": "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.",
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- "HPO:curators"
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- },
- "xrefs": [
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- "val": "UMLS:C2676443"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005039",
- "lbl": "Multiple long-bone exostoses",
- "meta": {
- "definition": {
- "val": "Multiple exostoses originating in long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Multiple exostoses of long tubular bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835583"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005041",
- "lbl": "Irregular capital femoral epiphysis",
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- ],
- "definition": {
- "val": "Irregular surface of the normally relatively smooth capital femoral epiphysis.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Irregular end part of innermost thighbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular proximal femoral epiphyses"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Irregular capital femoral epiphyses"
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- ],
- "xrefs": [
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- "val": "UMLS:C4020825"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005042",
- "lbl": "Irregular, rachitic-like metaphyses",
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- "val": "UMLS:C1866700"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005043",
- "lbl": "Proximal humeral metaphyseal irregularity",
- "meta": {
- "definition": {
- "val": "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C1865128"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005045",
- "lbl": "Diaphyseal cortical sclerosis",
- "meta": {
- "definition": {
- "val": "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005048",
- "lbl": "Synostosis of carpal bones",
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- "val": "UMLS:C1836193"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005050",
- "lbl": "Anterolateral radial head dislocation",
- "meta": {
- "definition": {
- "val": "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- ],
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- "val": "UMLS:C1968610"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005054",
- "lbl": "Metaphyseal spurs",
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- "definition": {
- "val": "Bony outgrowths that extend laterally from the margin of the metaphysis.",
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- },
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- "val": "UMLS:C1832988"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005059",
- "lbl": "Arthralgia/arthritis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joint pain/Joint inflammation"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025256"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005060",
- "lbl": "Limited elbow flexion/extension",
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- "val": "UMLS:C1968605"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005063",
- "lbl": "Fragmented, irregular epiphyses",
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- {
- "pred": "hasExactSynonym",
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- ],
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- "val": "UMLS:C4025255"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005067",
- "lbl": "Proximal fibular overgrowth",
- "meta": {
- "definition": {
- "val": "Overgrowth of the proximal part of the fibula.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Overgrowth of innermost part of calf bone",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
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- "val": "UMLS:C2673395"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005068",
- "lbl": "Absent styloid process of ulna",
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- "val": "UMLS:C4025254"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005069",
- "lbl": "Rhizo-meso-acromelic limb shortening",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C2673654"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005070",
- "lbl": "Proximal radial head dislocation",
- "meta": {
- "definition": {
- "val": "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1865570"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005072",
- "lbl": "Hyperextensibility at wrists",
- "meta": {
- "definition": {
- "val": "The ability of the wrist joints to move beyond their normal range of motion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased wrist mobility",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased laxity of wrists"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005084",
- "lbl": "Anterior radial head dislocation",
- "meta": {
- "definition": {
- "val": "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior dislocation of radial head"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2674451"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005085",
- "lbl": "Limited knee flexion/extension",
- "meta": {
- "definition": {
- "val": "A limited ability of the knee joint to perform extension and flexion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1968606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005086",
- "lbl": "Knee osteoarthritis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D020370"
- },
- {
- "val": "SNOMEDCT_US:239873007"
- },
- {
- "val": "UMLS:C0409959"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005089",
- "lbl": "Abnormal metaphyseal trabeculation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006360"
- }
- ],
- "definition": {
- "val": "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1857139"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005090",
- "lbl": "Lateral femoral bowing",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005022"
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- ],
- "definition": {
- "val": "A lateral bending or abnormal curvature of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866737"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005092",
- "lbl": "Streaky metaphyseal sclerosis",
- "meta": {
- "definition": {
- "val": "The presence of streaks (bands) of abnormally increased density of metaphyseal bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Streak increase in bone density in wide portion of wide bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025253"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005093",
- "lbl": "Absent proximal radial epiphyses",
- "meta": {
- "definition": {
- "val": "Absence of the proximal radial epiphysis.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1855301"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005096",
- "lbl": "Distal femoral bowing",
- "meta": {
- "definition": {
- "val": "A bending or abnormal curvature of the distal portion of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1860107"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005099",
- "lbl": "obsolete Severe hydrops fetalis",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001789"
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- ],
- "deprecated": true,
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Severe hydrops"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005100",
- "lbl": "Premature birth following premature rupture of fetal membranes",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Premature birth following premature rupture of foetal membranes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851833"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005101",
- "lbl": "High-frequency hearing impairment",
- "meta": {
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- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-25T05:03:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008522"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008584"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008597"
- }
- ],
- "comments": [
- "High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally."
- ],
- "definition": {
- "val": "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hearing loss, high-frequency"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High frequency hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressive high frequency hearing loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "High-frequency deafness"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Progressive high-frequency hearing loss"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006316"
- },
- {
- "val": "SNOMEDCT_US:232326009"
- },
- {
- "val": "SNOMEDCT_US:48758008"
- },
- {
- "val": "UMLS:C0018780"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005102",
- "lbl": "Cochlear degeneration",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-25T05:06:00Z"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008156"
- }
- ],
- "definition": {
- "val": "Deterioration or loss of the tissues of the cochlea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Progressive cochlear degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849095"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005103",
- "lbl": "Calcification of the auricular cartilage",
- "meta": {
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- "val": "2008-03-25T05:09:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008549"
- }
- ],
- "definition": {
- "val": "Ossification affecting the external ear cartilage.",
- "xrefs": [
- "HPO:probinson",
- "PMID:15523361",
- "PMID:23259082"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cartilaginous ossification of pinnae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ossification of pinnae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Petrified ear"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Ear cartilage calcification"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1408806"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005104",
- "lbl": "Hypoplastic nasal septum",
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- "val": "2008-03-25T05:15:00Z"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the nasal septum.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of nasal septum",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of septum of nose",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nasal septum",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of septum of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861328"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005105",
- "lbl": "Abnormal nasal morphology",
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- "val": "2008-03-25T05:21:00Z"
- }
- ],
- "comments": [
- "This is a category for overall abnormal morphology that may be replaced later with more exact descriptions."
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal of nasal shape",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal of shape of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal nose morphology",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal of morphology of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4870"
- },
- {
- "val": "UMLS:C4025252"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005106",
- "lbl": "Abnormality of the vertebral endplates",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-25T06:01:00Z"
- }
- ],
- "definition": {
- "val": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025251"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005107",
- "lbl": "Abnormal sacrum morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-25T06:03:00Z"
- }
- ],
- "comments": [
- "The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5."
- ],
- "definition": {
- "val": "An abnormality of the sacral bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the sacrum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025250"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005108",
- "lbl": "Abnormal intervertebral disk morphology",
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- "basicPropertyValues": [
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- "val": "2008-03-25T06:05:00Z"
- }
- ],
- "comments": [
- "Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies."
- ],
- "definition": {
- "val": "Any structural abnormality of the intervertebral disk.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of the intervertebral disc"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the intervertebral disk"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025249"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005109",
- "lbl": "Abnormality of the Achilles tendon",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-25T06:21:00Z"
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- ],
- "definition": {
- "val": "An abnormality of the Achilles tendon.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the Achilles tendon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the calcaneal tendon"
- }
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- "xrefs": [
- {
- "val": "UMLS:C4021642"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005110",
- "lbl": "Atrial fibrillation",
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- "val": "2008-03-25T06:29:00Z"
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- "val": "HP:0001715"
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- "val": "HP:0005179"
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- "comments": [
- "The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately."
- ],
- "definition": {
- "val": "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.",
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- "HPO:probinson"
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- "val": "Quivering upper heart chambers resulting in irregular heartbeat",
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- "https://orcid.org/0000-0002-6548-5200"
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- "xrefs": [
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- "val": "MSH:D001281"
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- "val": "SNOMEDCT_US:49436004"
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- "val": "UMLS:C0004238"
- }
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005111",
- "lbl": "obsolete Dilatation of the ascending aorta",
- "meta": {
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005112",
- "lbl": "Abdominal aortic aneurysm",
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- "val": "2008-03-25T06:33:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004953"
- }
- ],
- "definition": {
- "val": "An abnormal localized widening (dilatation) of the abdominal aorta."
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Dilatation of the abdominal aorta"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025248"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005113",
- "lbl": "Aortic arch aneurysm",
- "meta": {
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- "val": "2008-03-25T06:34:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004965"
- }
- ],
- "definition": {
- "val": "An abnormal localized widening (dilatation) of the aortic arch."
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "val": "Aortic arch dilatation"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Dilatation of the aortic arch"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:2706"
- },
- {
- "val": "UMLS:C1851119"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005114",
- "lbl": "obsolete Abnormalities of the peripheral arteries",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0011004"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005115",
- "lbl": "Supraventricular arrhythmia",
- "meta": {
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- "val": "2008-03-25T06:37:00Z"
- }
- ],
- "comments": [
- "Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles."
- ],
- "definition": {
- "val": "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Supraventricular arrhythmias",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:72654001"
- },
- {
- "val": "UMLS:C0428974"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005116",
- "lbl": "Arterial tortuosity",
- "meta": {
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- "val": "2008-03-25T06:39:00Z"
- }
- ],
- "definition": {
- "val": "Abnormal tortuous (i.e., twisted) form of arteries.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3279191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005117",
- "lbl": "Elevated diastolic blood pressure",
- "meta": {
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- "val": "2008-03-25T06:43:00Z"
- }
- ],
- "comments": [
- "Normal diastolic blood pressure is less than 80 mmHg."
- ],
- "definition": {
- "val": "Abnormal increase in diastolic blood pressure.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Elevated diastolic BP"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840375"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005120",
- "lbl": "Abnormal cardiac atrium morphology",
- "meta": {
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- "val": "2008-03-26T04:12:00Z"
- }
- ],
- "definition": {
- "val": "Any structural abnormality of a cardiac atrium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of heart atrium",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of cardiac atrium morphology"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025246"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005121",
- "lbl": "Posterior scalloping of vertebral bodies",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004572"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004579"
- }
- ],
- "comments": [
- "The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors."
- ],
- "definition": {
- "val": "An excessive concavity of the posterior surface of one or more vertebral bodies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Posterior vertebral body scalloping"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850196"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005129",
- "lbl": "Congenital hypertrophy of left ventricle",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1855901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005130",
- "lbl": "obsolete Restrictive heart failure",
- "meta": {
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001723"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005132",
- "lbl": "Pericardial constriction",
- "meta": {
- "definition": {
- "val": "Compression of the heart caused by rigid, thickened, or fused pericardial membranes.",
- "xrefs": [
- "PMID:14966039"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C0240709"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005133",
- "lbl": "Right ventricular dilatation",
- "meta": {
- "definition": {
- "val": "Enlargement of the chamber of the right ventricle.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17715105"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dilated heart right ventricle"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1827"
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- {
- "val": "Fyler:2333"
- },
- {
- "val": "SNOMEDCT_US:253522006"
- },
- {
- "val": "UMLS:C0344893"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005134",
- "lbl": "Absence of the pulmonary valve",
- "meta": {
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- "comments": [
- "The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients."
- ],
- "definition": {
- "val": "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.",
- "xrefs": [
- "DDD:dbrown"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent pulmonary valve"
- }
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- "xrefs": [
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- "val": "SNOMEDCT_US:6996004"
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- {
- "val": "UMLS:C0265831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005135",
- "lbl": "Abnormal T-wave",
- "meta": {
- "definition": {
- "val": "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "EKG: T-wave abnormalities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "T-wave abnormalities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025245"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005136",
- "lbl": "Mitral annular calcification",
- "meta": {
- "comments": [
- "MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual."
- ],
- "definition": {
- "val": "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.",
- "xrefs": [
- "HPO:probinson",
- "PMID:23587525"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Premature calcification of mitral annulus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835130"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005141",
- "lbl": "obsolete Episodes of ventricular tachycardia",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005143",
- "lbl": "Anomalous origin of right pulmonary artery from ascending aorta",
- "meta": {
- "definition": {
- "val": "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.",
- "xrefs": [
- "DDD:dbrown"
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- },
- "xrefs": [
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- "val": "SNOMEDCT_US:253634009"
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- "val": "UMLS:C0345037"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005144",
- "lbl": "Ventricular septal hypertrophy",
- "meta": {
- "definition": {
- "val": "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.",
- "xrefs": [
- "PMID:21349577",
- "http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thickened interventricular septum"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1845019"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005145",
- "lbl": "Coronary artery stenosis",
- "meta": {
- "definition": {
- "val": "Abnormal narrowing of the coronary artery."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of coronary artery",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:D023921"
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- "val": "SNOMEDCT_US:233970002"
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- {
- "val": "UMLS:C0242231"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005146",
- "lbl": "Cardiac valve calcification",
- "meta": {
- "definition": {
- "val": "Abnormal calcification of a cardiac valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Calcifications of the cardiac valves"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856483"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005147",
- "lbl": "Bidirectional ventricular ectopy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1969410"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005148",
- "lbl": "Pulmonary valve defects",
- "meta": {
- "definition": {
- "val": "Any defect in the valve connecting the heart and the pulmonary artery."
- },
- "xrefs": [
- {
- "val": "UMLS:C1860165"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005150",
- "lbl": "Abnormal atrioventricular conduction",
- "meta": {
- "definition": {
- "val": "An impairment of the electrical continuity between the atria and ventricles.",
- "xrefs": [
- "PMID:15372490"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025244"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005151",
- "lbl": "Preductal coarctation of the aorta",
- "meta": {
- "comments": [
- "Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues."
- ],
- "definition": {
- "val": "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.",
- "xrefs": [
- "DDD:dbrown"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Proximal aortic coarctation"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:13867009"
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- {
- "val": "UMLS:C0265878"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005152",
- "lbl": "Histiocytoid cardiomyopathy",
- "meta": {
- "comments": [
- "This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years."
- ],
- "definition": {
- "val": "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.",
- "xrefs": [
- "PMID:21585276",
- "PMID:28050600"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Arachnocytosis of the myocardium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Foamy myocardial transformation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal lipid cardiomyopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Infantile cardiomyopathy with histiocytoid changes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Infantile xanthomatous cardiomyopathy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Isolated cardiac lipidosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myocardial or conduction system hamartoma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Oncocytic cardiomyopathy"
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- ],
- "xrefs": [
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- "val": "MSH:C535584"
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- {
- "val": "UMLS:C1708371"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005155",
- "lbl": "Ventricular escape rhythm",
- "meta": {
- "definition": {
- "val": "A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)."
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Idioventricular escape rhythm"
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- "xrefs": [
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- "val": "SNOMEDCT_US:81898007"
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- "val": "UMLS:C0232216"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005156",
- "lbl": "Hypoplastic left atrium",
- "meta": {
- "definition": {
- "val": "Underdeveloped, small left heart atrium"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Left atrium hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped left heart atrium"
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- "xrefs": [
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- "val": "Fyler:3040"
- },
- {
- "val": "UMLS:C1970625"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005157",
- "lbl": "Concentric hypertrophic cardiomyopathy",
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- "definition": {
- "val": "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Symmetric, concentric, hypertrophic cardiomyopathy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0238044"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005160",
- "lbl": "Total anomalous pulmonary venous return",
- "meta": {
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- "val": "HP:0005175"
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- ],
- "comments": [
- "Pulmonary veins drain through abnormal connections to the right atrium."
- ],
- "definition": {
- "val": "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.",
- "xrefs": [
- "HPO:probinson"
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- "val": "Fyler:900"
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- {
- "val": "MSH:D012587"
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- "val": "SNOMEDCT_US:111323005"
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- "val": "SNOMEDCT_US:39905002"
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- "val": "UMLS:C0036400"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005162",
- "lbl": "Abnormal left ventricular function",
- "meta": {
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- ],
- "definition": {
- "val": "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.",
- "xrefs": [
- "PMID:10956313",
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- "synonyms": [
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- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular dysfunction"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular failure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Left ventricular impairment"
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- {
- "pred": "hasExactSynonym",
- "val": "Left-sided heart failure"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006333"
- },
- {
- "val": "SNOMEDCT_US:275514001"
- },
- {
- "val": "SNOMEDCT_US:85232009"
- },
- {
- "val": "UMLS:C0023212"
- },
- {
- "val": "UMLS:C0553982"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005164",
- "lbl": "Dysplastic pulmonary valve",
- "meta": {
- "definition": {
- "val": "A congenital malformation of the pulmonary valve characterized by leaflet deformation.",
- "xrefs": [
- "PMID:7704986"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dysplasia of pulmonary valve"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary valve dysplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866206"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005165",
- "lbl": "Shortened PR interval",
- "meta": {
- "definition": {
- "val": "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Electrocardiographic short PR interval"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short P-R interval"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortened PR interval on EKG"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:49578007"
- },
- {
- "val": "UMLS:C0520878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005168",
- "lbl": "Elevated right atrial pressure",
- "meta": {
- "comments": [
- "Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization."
- ],
- "definition": {
- "val": "An abnormal increase in magnitude of the pressure in the right atrium.",
- "xrefs": [
- "PMID:25211049"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1867421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005170",
- "lbl": "Complete heart block with broad QRS complexes",
- "meta": {
- "definition": {
- "val": "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex."
- },
- "xrefs": [
- {
- "val": "UMLS:C1861987"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005172",
- "lbl": "Left posterior fascicular block",
- "meta": {
- "definition": {
- "val": "Conduction block in the posterior division of the left bundle branch of the bundle of His.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Left posterior hemiblock"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:62026008"
- },
- {
- "val": "UMLS:C0264913"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005173",
- "lbl": "obsolete Calcific aortic valve stenosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0004380"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005174",
- "lbl": "Membranous subvalvular aortic stenosis",
- "meta": {
- "comments": [
- "An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter."
- ],
- "definition": {
- "val": "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.",
- "xrefs": [
- "HPO:probinson",
- "PMID:5817839"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1848978"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005176",
- "lbl": "Dysplastic aortic valve",
- "meta": {
- "definition": {
- "val": "A congenital malformation of the aortic valve characterized by leaflet deformation.",
- "xrefs": [
- "PMID:21349746"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866207"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005177",
- "lbl": "Premature arteriosclerosis",
- "meta": {
- "definition": {
- "val": "Arteriosclerosis occurring at an age that is younger than usual.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature hardening of arteries",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848486"
- },
- {
- "val": "UMLS:C4280503"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005178",
- "lbl": "Complete heart block with narrow QRS complexes",
- "meta": {
- "definition": {
- "val": "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex."
- },
- "xrefs": [
- {
- "val": "UMLS:C1841661"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005180",
- "lbl": "Tricuspid regurgitation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004753"
- }
- ],
- "comments": [
- "This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316)."
- ],
- "definition": {
- "val": "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tricuspid insufficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tricuspid valve regurgitation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:1161"
- },
- {
- "val": "MSH:D014262"
- },
- {
- "val": "SNOMEDCT_US:111287006"
- },
- {
- "val": "UMLS:C0040961"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005181",
- "lbl": "Premature coronary artery atherosclerosis",
- "meta": {
- "definition": {
- "val": "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.",
- "xrefs": [
- "PMID:28070240"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature coronary artery disease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1867743"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005182",
- "lbl": "Bicuspid pulmonary valve",
- "meta": {
- "comments": [
- "The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid."
- ],
- "definition": {
- "val": "The presence of a bicuspid pulmonary valve.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "Fyler:1601"
- },
- {
- "val": "SNOMEDCT_US:253599005"
- },
- {
- "val": "UMLS:C0344987"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005183",
- "lbl": "Pericardial lymphangiectasia",
- "meta": {
- "definition": {
- "val": "An abnormal dilatation of lymph vessels in the pericardium.",
- "xrefs": [
- "PMID:18391124"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1856140"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005184",
- "lbl": "Prolonged QTc interval",
- "meta": {
- "definition": {
- "val": "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.",
- "xrefs": [
- "PMID:24097136"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1560305"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005185",
- "lbl": "Global systolic dysfunction",
- "meta": {
- "definition": {
- "val": "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.",
- "xrefs": [
- "PMID:24173273",
- "PMID:7713107"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1847397"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005186",
- "lbl": "Synovial hypertrophy",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D013585"
- },
- {
- "val": "SNOMEDCT_US:240206002"
- },
- {
- "val": "UMLS:C0410574"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005187",
- "lbl": "Progressive joint destruction",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025243"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005190",
- "lbl": "Proximal finger joint hyperextensibility",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025242"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005191",
- "lbl": "Congenital knee dislocation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dislocated knee since birth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:59068006"
- },
- {
- "val": "UMLS:C0265669"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005193",
- "lbl": "Restricted large joint movement",
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- "xrefs": [
- {
- "val": "UMLS:C4025241"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005194",
- "lbl": "Flattened metatarsal heads",
- "meta": {
- "comments": [
- "The metatarsal heads articulate with the proximal phalanges of the toes."
- ],
- "definition": {
- "val": "Abnormally flat shape of the heads of the metatarsal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened head of long bone of foot",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025240"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005195",
- "lbl": "Polyarticular arthropathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025239"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005197",
- "lbl": "Generalized morning stiffness",
- "meta": {
- "definition": {
- "val": "A sensation of stiffness in the joints that occurs following waking up in the morning.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised morning stiffness"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025238"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005198",
- "lbl": "Stiff interphalangeal joints",
- "meta": {
- "definition": {
- "val": "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Stiff hinge joints",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025237"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005199",
- "lbl": "Aplasia of the abdominal wall musculature",
- "meta": {
- "definition": {
- "val": "Absence of the abdominal musculature.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent abdominal musculature"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3149223"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005200",
- "lbl": "Retroperitoneal fibrosis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D012185"
- },
- {
- "val": "SNOMEDCT_US:49120005"
- },
- {
- "val": "UMLS:C0035357"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005201",
- "lbl": "Anomalous splenoportal venous system",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025236"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005202",
- "lbl": "Helicobacter pylori infection",
- "meta": {
- "comments": [
- "The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts."
- ],
- "definition": {
- "val": "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.",
- "xrefs": [
- "PMID:23652324"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C0850666"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005203",
- "lbl": "Spontaneous esophageal perforation",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005251"
- }
- ],
- "comments": [
- "Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis."
- ],
- "definition": {
- "val": "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spontaneous esophageal rupture"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Boerhaave syndrome"
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- ],
- "xrefs": [
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- "val": "MSH:C536571"
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- {
- "val": "SNOMEDCT_US:19995004"
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- "val": "UMLS:C0238115"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005206",
- "lbl": "Pancreatic pseudocyst",
- "meta": {
- "definition": {
- "val": "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
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- "val": "MSH:D010192"
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- {
- "val": "SNOMEDCT_US:111374002"
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- "val": "UMLS:C0030299"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005207",
- "lbl": "Gastric hypertrophy",
- "meta": {
- "definition": {
- "val": "Hypertrophy of the stomach.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased stomach size",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834341"
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- {
- "val": "UMLS:C4280502"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005208",
- "lbl": "Secretory diarrhea",
- "meta": {
- "definition": {
- "val": "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.",
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- "HPO:probinson"
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- },
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- "val": "Secretory diarrhoea"
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- ],
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- "val": "SNOMEDCT_US:15699003"
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- {
- "val": "UMLS:C0267557"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005209",
- "lbl": "Intrahepatic bile duct cysts",
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- "definition": {
- "val": "The presence of cyst of the intrahepatic bile duct.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "SNOMEDCT_US:235925007"
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- {
- "val": "UMLS:C0400991"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005210",
- "lbl": "Hypoplastic colon",
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- "definition": {
- "val": "Underdevelopment of the colon.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the colon"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped colon",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
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- "val": "UMLS:C1392839"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005211",
- "lbl": "Midgut malrotation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005212",
- "lbl": "Anal mucosal leukoplakia",
- "meta": {
- "definition": {
- "val": "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.",
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- "HPO:probinson",
- "PMID:13316552"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1844632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005213",
- "lbl": "Pancreatic calcification",
- "meta": {
- "definition": {
- "val": "The presence of abnormal calcium deposition lesions in the pancreas.",
- "xrefs": [
- "HPO:probinson"
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- },
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- "id": "http://purl.obolibrary.org/obo/HP_0005215",
- "lbl": "Frequent Giardia lamblia infestation",
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- "val": "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005216",
- "lbl": "Impaired mastication",
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- "definition": {
- "val": "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.",
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- "val": "Chewing difficulty"
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- "val": "Difficulty chewing"
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- "val": "SNOMEDCT_US:162020001"
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- "val": "UMLS:C0239043"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005217",
- "lbl": "Duplication of internal organs",
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- "val": "UMLS:C4025234"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005218",
- "lbl": "Anoperineal fistula",
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- "val": "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.",
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- "pred": "hasBroadSynonym",
- "val": "Perianal fistula"
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- ],
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- "val": "UMLS:C1835798"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005219",
- "lbl": "Absence of intrinsic factor",
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- "comments": [
- "This feature can be ascertained by immunoassay of gastric juices."
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- "definition": {
- "val": "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
- "val": "Intrinsic factor absent from gastric juice"
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- ],
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- "val": "UMLS:C4021641"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005220",
- "lbl": "Multiple intestinal neurofibromatosis",
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- "xrefs": [
- {
- "val": "UMLS:C4025233"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005222",
- "lbl": "Bowel diverticulosis",
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- "definition": {
- "val": "The presence of multiple diverticula of the intestine.",
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- },
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- "pred": "hasRelatedSynonym",
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- ],
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- "val": "UMLS:C1394691"
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- "val": "UMLS:C1395674"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005223",
- "lbl": "Duplicated colon",
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- "val": "UMLS:C1850328"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005224",
- "lbl": "Rectal abscess",
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- "val": "A collection of pus in the area of the rectum.",
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C0267566"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005225",
- "lbl": "Intestinal edema",
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- "This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram."
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- "definition": {
- "val": "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.",
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- "type": "CLASS"
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- "lbl": "Jejunoileal ulceration",
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- "type": "CLASS"
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- "lbl": "Biliary tract obstruction",
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- "val": "Obstruction affecting the biliary tree.",
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- "id": "http://purl.obolibrary.org/obo/HP_0005231",
- "lbl": "Chronic gastritis",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005232",
- "lbl": "Pancreatic dysplasia",
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- "Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture."
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005233",
- "lbl": "Hypoplasia of the gallbladder",
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- "definition": {
- "val": "The presence of a hypoplastic gallbladder.",
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- "val": "SNOMEDCT_US:93259002"
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- "val": "UMLS:C0345282"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005234",
- "lbl": "Neonatal intestinal obstruction",
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- "type": "CLASS"
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- "lbl": "Jejunal atresia",
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- "val": "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.",
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- "val": "SNOMEDCT_US:204702007"
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- "val": "UMLS:C0266175"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005236",
- "lbl": "Chronic calcifying pancreatitis",
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- "definition": {
- "val": "A form of chronic pancreatitis that is characterized by calcification.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005237",
- "lbl": "Degenerative liver disease",
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- "id": "http://purl.obolibrary.org/obo/HP_0005238",
- "lbl": "Discrete intestinal polyps",
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- "id": "http://purl.obolibrary.org/obo/HP_0005240",
- "lbl": "Esophageal obstruction",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005241",
- "lbl": "Total intestinal aganglionosis",
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- "definition": {
- "val": "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005243",
- "lbl": "Partial abdominal muscle agenesis",
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- "type": "CLASS"
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- "type": "CLASS"
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- "lbl": "Intrahepatic biliary atresia",
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- "lbl": "Functional intestinal obstruction",
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- "val": "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.",
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- "val": "Unilateral aplasia of pectoralis major muscle"
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- "val": "UMLS:C4021639"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005257",
- "lbl": "Thoracic hypoplasia",
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- "val": "Small chest"
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- "val": "UMLS:C4025226"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005259",
- "lbl": "Abnormal facility in opposing the shoulders",
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- "comments": [
- "This feature is characteristic of cleidocranial dysplasia. See Figure 2 of PMID:23289840"
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- "definition": {
- "val": "Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.",
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- "PMID:23289840"
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- },
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- {
- "val": "UMLS:C1861517"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005261",
- "lbl": "Joint hemorrhage",
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- "val": "HP:0001391"
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- "val": "HP:0005196"
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- ],
- "definition": {
- "val": "Hemorrhage occurring within a joint.",
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- "HPO:gcarletti"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Hemarthrosis"
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- "val": "Bleeding within a joint",
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- "val": "Hemarthroses"
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- "pred": "hasExactSynonym",
- "val": "Spontaneous joint hemorrhage"
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- ],
- "xrefs": [
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- "val": "MSH:D006395"
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- "val": "SNOMEDCT_US:81808003"
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- {
- "val": "UMLS:C0018924"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005262",
- "lbl": "Abnormality of the synovia",
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- "val": "UMLS:C4025225"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005263",
- "lbl": "Gastritis",
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- "val": "2008-03-26T04:32:00Z"
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- ],
- "definition": {
- "val": "The presence of inflammation of the gastric mucous membrane.",
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- },
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- "synonyms": [
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- "val": "Stomach inflammation",
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- ],
- "xrefs": [
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- "val": "MEDDRA:10017853"
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- "val": "MSH:D005756"
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- "val": "SNOMEDCT_US:4556007"
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- "val": "UMLS:C0017152"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005264",
- "lbl": "Abnormality of the gallbladder",
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- "val": "2008-03-26T04:40:00Z"
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- ],
- "definition": {
- "val": "An abnormality of the gallbladder.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormality of the gallbladder"
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- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the gallbladder"
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- "xrefs": [
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- "val": "SNOMEDCT_US:253803008"
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- "val": "SNOMEDCT_US:49714001"
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- "val": "UMLS:C0266249"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005265",
- "lbl": "Abnormal jejunum morphology",
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- "val": "2008-03-26T04:44:00Z"
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- "definition": {
- "val": "An abnormality of the jejunum, i.e., of the middle section of the small intestine.",
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- "val": "UMLS:C4025224"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005266",
- "lbl": "Intestinal polyp",
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- "val": "2008-03-26T04:46:00Z"
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- ],
- "definition": {
- "val": "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.",
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- "val": "MSH:D007417"
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- "val": "SNOMEDCT_US:254588001"
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- "val": "UMLS:C0021846"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005267",
- "lbl": "Premature delivery because of cervical insufficiency or membrane fragility",
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- "val": "UMLS:C1851808"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005268",
- "lbl": "Miscarriage",
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- "definition": {
- "val": "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.",
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- "val": "Spontaneous abortion"
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- ],
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- "val": "MSH:D000022"
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- "val": "SNOMEDCT_US:17369002"
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- "val": "UMLS:C0000786"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005272",
- "lbl": "Prominent nasolabial fold",
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- "definition": {
- "val": "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).",
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- "PMID:19125428"
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- },
- "subsets": [
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep laugh lines",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep smile lines",
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- "val": "Prominent laugh lines",
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- "val": "Nasolabial crease, prominent"
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- "val": "Deep nasolabial groove",
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- "pred": "hasExactSynonym",
- "val": "Prominent nasolabial groove",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005273",
- "lbl": "Absent nasal septal cartilage",
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- "definition": {
- "val": "Lack of the cartilage of the nasal septum.",
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- "val": "Absent nasal septal cartilage"
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- "pred": "hasExactSynonym",
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- "val": "Absent nasal septum"
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- "val": "Failure of development of nasal septal cartilage",
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- "pred": "hasRelatedSynonym",
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- "val": "HP:0004506"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004666"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005119"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005284"
- }
- ],
- "comments": [
- "The adjective \"depressed\" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background."
- ],
- "definition": {
- "val": "Posterior positioning of the nasal root in relation to the overall facial profile for age.",
- "xrefs": [
- "PMID:19152422"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Depressed nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat, nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Depressed bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low nasal root",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Concave bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Concave nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Depressed nasal root"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat nasal root"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retruded nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Depressed nasal root/bridge",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836542"
- },
- {
- "val": "UMLS:C3550546"
- },
- {
- "val": "UMLS:C4280495"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005281",
- "lbl": "Hypoplastic nasal bridge",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865597"
- },
- {
- "val": "UMLS:C4280494"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005285",
- "lbl": "Absent nasal bridge",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent nasal bridge"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of bridge of nose",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of nasal bridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005288",
- "lbl": "Abnormal nostril morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-26T06:04:00Z"
- }
- ],
- "definition": {
- "val": "Abnormality of the nostril.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the nostrils"
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformity of the nostrils",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of the nostrils",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal naris morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the nares"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the nares",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the nares",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the nares",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021637"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005289",
- "lbl": "Abnormality of the nasolabial region",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-26T06:07:00Z"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the nasolabial region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Deformity of the nasolabial region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Malformation of the nasolabial region",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025223"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005290",
- "lbl": "Internal carotid artery hypoplasia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of internal carotid artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small internal carotid artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Aplasia of internal carotid artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Deficiency of internal carotid artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic internal carotid artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855736"
- },
- {
- "val": "UMLS:C4280491"
- },
- {
- "val": "UMLS:C4280492"
- },
- {
- "val": "UMLS:C4280493"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005291",
- "lbl": "Inflammatory arteriopathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025222"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005292",
- "lbl": "Intimal thickening in the coronary arteries",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968633"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005293",
- "lbl": "Venous insufficiency",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poorly functioning veins",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014689"
- },
- {
- "val": "SNOMEDCT_US:20696009"
- },
- {
- "val": "UMLS:C0042485"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005294",
- "lbl": "Arterial dissection",
- "meta": {
- "definition": {
- "val": "A separation (dissection) of the layers of an artery.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D000784"
- },
- {
- "val": "SNOMEDCT_US:233992003"
- },
- {
- "val": "SNOMEDCT_US:26845001"
- },
- {
- "val": "SNOMEDCT_US:710864009"
- },
- {
- "val": "SNOMEDCT_US:9406001"
- },
- {
- "val": "UMLS:C0002949"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005295",
- "lbl": "Pseudocoarctation of the aorta",
- "meta": {
- "comments": [
- "Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch."
- ],
- "definition": {
- "val": "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17593995",
- "PMID:18651460"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:70602002"
- },
- {
- "val": "UMLS:C0345088"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005296",
- "lbl": "obsolete Occlusive vascular disease",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0004950"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005297",
- "lbl": "Premature occlusive vascular stenosis",
- "meta": {
- "definition": {
- "val": "Peripheral arterial stenosis with onset before the age of 50 years."
- },
- "xrefs": [
- {
- "val": "UMLS:C1867457"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005298",
- "lbl": "obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0006695"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005299",
- "lbl": "obsolete Premature peripheral vascular disease",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0004950"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005300",
- "lbl": "Nodular inflammatory vasculitis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025219"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005301",
- "lbl": "Persistent left superior vena cava",
- "meta": {
- "definition": {
- "val": "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.",
- "xrefs": [
- "PMID:18847480"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "PLSVC"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:77978002"
- },
- {
- "val": "UMLS:C0265931"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005302",
- "lbl": "Carotid artery tortuosity",
- "meta": {
- "definition": {
- "val": "Abnormal tortuous (i.e., twisted) form of the carotid arteries.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tortuous carotid arteries"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:401051003"
- },
- {
- "val": "UMLS:C1303076"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005303",
- "lbl": "Aortic arch calcification",
- "meta": {
- "definition": {
- "val": "Calcification, that is, pathological deposition of calcium salts in the arch of aorta.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1969291"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005304",
- "lbl": "Hypoplastic pulmonary veins",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped lung veins",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1970501"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005305",
- "lbl": "Cerebral venous thrombosis",
- "meta": {
- "definition": {
- "val": "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blood clot in cerebral vein",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral thrombosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral vein thrombosis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95455008"
- },
- {
- "val": "UMLS:C0151945"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005306",
- "lbl": "Capillary hemangioma",
- "meta": {
- "definition": {
- "val": "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Capillary hemangiomata"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Strawberry birthmark",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D018324"
- },
- {
- "val": "SNOMEDCT_US:195382003"
- },
- {
- "val": "SNOMEDCT_US:254206003"
- },
- {
- "val": "SNOMEDCT_US:402867006"
- },
- {
- "val": "SNOMEDCT_US:56975005"
- },
- {
- "val": "SNOMEDCT_US:83343001"
- },
- {
- "val": "UMLS:C0206733"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005307",
- "lbl": "Postural hypotension with compensatory tachycardia",
- "meta": {
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- {
- "val": "UMLS:C1850438"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005308",
- "lbl": "Pulmonary artery vasoconstriction",
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- {
- "val": "UMLS:C1867424"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005309",
- "lbl": "obsolete Peripheral vascular insufficiency",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005310",
- "lbl": "Large vessel vasculitis",
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- "definition": {
- "val": "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.",
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- "HPO:probinson",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005311",
- "lbl": "Agenesis of pulmonary vessels",
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- "definition": {
- "val": "A developmental defect characterized by the lack of formation of the pulmonary blood vessels."
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- {
- "pred": "hasExactSynonym",
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- "val": "Absent lung vessels",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005312",
- "lbl": "Pulmonary aterial intimal fibrosis",
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- "comments": [
- "Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome."
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- "definition": {
- "val": "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.",
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- "val": "UMLS:C4025217"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005313",
- "lbl": "Arterial fibromuscular dysplasia",
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- "comments": [
- "Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus."
- ],
- "definition": {
- "val": "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.",
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- "PMID:27939641"
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- "xrefs": [
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- "val": "MSH:D005352"
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- {
- "val": "SNOMEDCT_US:31653004"
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- {
- "val": "SNOMEDCT_US:359553002"
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- {
- "val": "UMLS:C0016052"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005314",
- "lbl": "Anomalous branches of internal carotid artery",
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- "xrefs": [
- {
- "val": "UMLS:C1847886"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005315",
- "lbl": "obsolete Peripheral artery occlusive disease",
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- "deprecated": true
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005316",
- "lbl": "Peripheral pulmonary vessel aplasia",
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- "xrefs": [
- {
- "val": "UMLS:C1848877"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005317",
- "lbl": "Increased pulmonary vascular resistance",
- "meta": {
- "definition": {
- "val": "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units."
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- "val": "UMLS:C1867423"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005318",
- "lbl": "Cerebral vasculitis",
- "meta": {
- "definition": {
- "val": "Inflammation of the blood vessels within the brain.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D020293"
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- {
- "val": "SNOMEDCT_US:427020007"
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- {
- "val": "UMLS:C0238051"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005320",
- "lbl": "Lack of facial subcutaneous fat",
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- {
- "pred": "hasExactSynonym",
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- "val": "Lack of facial fat below the skin",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3277426"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005321",
- "lbl": "Mandibulofacial dysostosis",
- "meta": {
- "definition": {
- "val": "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Treacher Collins syndrome",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D008342"
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- {
- "val": "SNOMEDCT_US:82203000"
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- {
- "val": "UMLS:C0242387"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005322",
- "lbl": "Prominent nasal septum",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent nasal septum"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent septum of nose",
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Low hanging nasal septum",
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- "val": "Low hanging septum of nose",
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Visible nasal septum",
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "val": "UMLS:C4025216"
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- "val": "UMLS:C4280489"
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- {
- "val": "UMLS:C4280490"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005323",
- "lbl": "Hemifacial hypertrophy",
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- "val": "Unilateral overgrowth of facial tissues, including muscles, bones and skin.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Enlargement of half of face",
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- {
- "pred": "hasExactSynonym",
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- "val": "Hemifacial enlargement",
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- "pred": "hasExactSynonym",
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- },
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increase in size of half of face",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Facial hemihypertophy",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Facial hemihyperplasia",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Friedreich's disease",
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- }
- ],
- "xrefs": [
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- "val": "MSH:C563014"
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- {
- "val": "MSH:D005621"
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- "val": "SNOMEDCT_US:10394003"
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- "val": "SNOMEDCT_US:697962004"
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- "val": "UMLS:C0016719"
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- {
- "val": "UMLS:C1399354"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005324",
- "lbl": "Disturbance of facial expression",
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- "definition": {
- "val": "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.",
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- "DDD:cwright"
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- "val": "UMLS:C4025215"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005325",
- "lbl": "Extension of hair growth on temples to lateral eyebrow",
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- "definition": {
- "val": "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Unusual hairline with hair growth on temples extending to lateral eyebrow"
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- ],
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- "val": "UMLS:C1857455"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005326",
- "lbl": "Hypoplastic philtrum",
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- "val": "HP:0005331"
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- "val": "Underdevelopment of the philtrum.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Small philtrum",
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- "val": "UMLS:C1856886"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005327",
- "lbl": "Loss of facial expression",
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- "val": "UMLS:C1852476"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005328",
- "lbl": "Progeroid facial appearance",
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- "val": "HP:0005333"
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- ],
- "definition": {
- "val": "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
- "val": "Aged facial appearance"
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- "pred": "hasExactSynonym",
- "val": "Prematurely aged face"
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- {
- "pred": "hasExactSynonym",
- "val": "Prematurely aged facial appearance"
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- "pred": "hasExactSynonym",
- "val": "Wizened face"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005329",
- "lbl": "Fixed facial expression",
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- "val": "Unchanging facial expression",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005332",
- "lbl": "Recurrent mandibular subluxations",
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- "definition": {
- "val": "Recurrent partial dislocations of the mandible.",
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- },
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005335",
- "lbl": "Sleepy facial expression",
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- "pred": "hasExactSynonym",
- "val": "Somnolent facial expression",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005336",
- "lbl": "Forehead hyperpigmentation",
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- {
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- "val": "Darkening of the forehead",
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- "type": "CLASS"
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- "lbl": "Sparse lateral eyebrow",
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- "comments": [
- "Abnormal sparseness of the eyebrows laterally."
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- },
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Lateral hypoplasia of eyebrows"
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- {
- "pred": "hasExactSynonym",
- "val": "Lateral thinning of eyebrows"
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- {
- "pred": "hasExactSynonym",
- "val": "Laterally sparse eyebrow"
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- {
- "pred": "hasExactSynonym",
- "val": "Laterally sparse eyebrows",
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- },
- {
- "pred": "hasRelatedSynonym",
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- "val": "UMLS:C1857206"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005339",
- "lbl": "Abnormality of complement system",
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- "val": "HP:0025541"
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- "comments": [
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- "definition": {
- "val": "An abnormality of the complement system.",
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- },
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005340",
- "lbl": "Spastic/hyperactive bladder",
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005341",
- "lbl": "Autonomic bladder dysfunction",
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- "type": "CLASS"
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- "lbl": "Hypoplasia of the bladder",
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- },
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic bladder"
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- ],
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- "val": "UMLS:C1855335"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005344",
- "lbl": "Abnormal carotid artery morphology",
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- "val": "2008-03-26T06:37:00Z"
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- ],
- "definition": {
- "val": "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches."
- },
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the carotid arteries"
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- "val": "UMLS:C4025211"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005345",
- "lbl": "Abnormal vena cava morphology",
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- "val": "HP:0030971"
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- ],
- "definition": {
- "val": "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava."
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
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- {
- "val": "UMLS:C4025210"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005346",
- "lbl": "Abnormal facial expression",
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- "id": "http://purl.obolibrary.org/obo/HP_0005347",
- "lbl": "Tracheal cartilaginous sleeve",
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- "id": "http://purl.obolibrary.org/obo/HP_0005348",
- "lbl": "Inspiratory stridor",
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- "val": "UMLS:C4025208"
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- "id": "http://purl.obolibrary.org/obo/HP_0005353",
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- "pred": "hasExactSynonym",
- "val": "Decreased numbers of circulating T cells"
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- {
- "pred": "hasExactSynonym",
- "val": "Decrease in T cell count",
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- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536783"
- },
- {
- "val": "UMLS:C2931322"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005404",
- "lbl": "Increased B cell count",
- "meta": {
- "definition": {
- "val": "An abnormal increase from the normal count of B cells.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increase in B cell count"
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- {
- "pred": "hasExactSynonym",
- "val": "Increase in B cell number"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased number of B cells"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858972"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005406",
- "lbl": "Recurrent bacterial skin infections",
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- "val": "HP:0000983"
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- ],
- "comments": [
- "Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection."
- ],
- "definition": {
- "val": "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent bacterial skin infections"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent cutaneous pyogenic infections"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent episodes of impetigo"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent episodes of infectious dermatitis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Recurrent pyogenic skin infections"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835686"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005407",
- "lbl": "Decreased proportion of CD4-positive helper T cells",
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- "val": "HP:0005480"
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- ],
- "definition": {
- "val": "A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of CD4+ T cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "CD4 T cell lymphopenia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "CD4+ T-cell lymphopenia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839304"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005409",
- "lbl": "obsolete Markedly reduced T cell function",
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- "val": "HP:0005435"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005411",
- "lbl": "Chronic intestinal candidiasis",
- "meta": {
- "definition": {
- "val": "Persistent overgrowth of Candida albicans in the gastrointestinal tract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Candida overgrowth syndrome"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020823"
- },
- {
- "val": "UMLS:C4025199"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005413",
- "lbl": "Increased alpha-globulin",
- "meta": {
- "definition": {
- "val": "An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.",
- "xrefs": [
- "PMID:15663032"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:124022007"
- },
- {
- "val": "UMLS:C1167806"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005415",
- "lbl": "Decreased proportion of CD8-positive T cells",
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- "val": "HP:0005481"
- }
- ],
- "definition": {
- "val": "A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "CD8+ T-cell lymphopenia"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased proportion of CD8+ T cells"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased proportion of CD8-positive, alpha-beta T cells"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839305"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005416",
- "lbl": "Decreased serum complement factor B",
- "meta": {
- "definition": {
- "val": "A reduced level of the complement component factor B in circulation.",
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- "https://emedicine.medscape.com/article/135478-overview"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased serum factor b"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021636"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005419",
- "lbl": "Decreased T cell activation",
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- "val": "HP:0005370"
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- "val": "HP:0005436"
- }
- ],
- "definition": {
- "val": "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.",
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- "ISBN:0781735149"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Decreased T lymphocyte activation"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased T-cell activation"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased T-lymphocyte activation"
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- {
- "pred": "hasExactSynonym",
- "val": "Defective T cell activation"
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- {
- "pred": "hasExactSynonym",
- "val": "Profound depletion of T4+ lymphocytes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846550"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005420",
- "lbl": "Recurrent gram-negative bacterial infections",
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- "basicPropertyValues": [
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- "val": "HP:0005395"
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- "comments": [
- "Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane."
- ],
- "definition": {
- "val": "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.",
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- "HPO:probinson"
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- },
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- {
- "val": "UMLS:C4025198"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005421",
- "lbl": "Decreased serum complement C3",
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- "definition": {
- "val": "A reduced level of the complement component C3 in circulation.",
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- "https://emedicine.medscape.com/article/135478-overview"
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- },
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- "pred": "hasExactSynonym",
- "val": "Decreased serum C3"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased serum complement C3 level"
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- ],
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- {
- "val": "UMLS:C1837512"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005422",
- "lbl": "Absence of CD8-positive T cells",
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- "definition": {
- "val": "Lack of detectible CD8-positive T cells"
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- {
- "pred": "hasExactSynonym",
- "val": "Absence of CD8+ T cells"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025197"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005423",
- "lbl": "Dysfunctional alternative complement pathway",
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- "definition": {
- "val": "An abnormality of the functioning of any aspect of the alternative complement pathway."
- },
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- {
- "val": "UMLS:C1839458"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005424",
- "lbl": "Absent specific antibody response",
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- "definition": {
- "val": "Absence of specific immunoglobulins directed against a specific antigen or microorganism.",
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- "PMID:17100769"
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- },
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- {
- "val": "UMLS:C1863246"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005425",
- "lbl": "Recurrent sinopulmonary infections",
- "meta": {
- "definition": {
- "val": "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
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- "ORCID:0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Chronic sinopulmonary infection"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1846546"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005428",
- "lbl": "Severe recurrent varicella",
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- "xrefs": [
- {
- "val": "MSH:C563458"
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- {
- "val": "UMLS:C1833487"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005429",
- "lbl": "Recurrent systemic pyogenic infections",
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- "definition": {
- "val": "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.",
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- "ORCID:0000-0001-7941-2961"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025196"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005430",
- "lbl": "Recurrent Neisserial infections",
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- "val": "HP:0005378"
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- ],
- "definition": {
- "val": "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Episodes of neisserial infection"
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- {
- "pred": "hasExactSynonym",
- "val": "Recurrent neisseria infections"
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- ],
- "xrefs": [
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- "val": "UMLS:C3151083"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005432",
- "lbl": "Transient hypogammaglobulinemia of infancy",
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- "definition": {
- "val": "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.",
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- "val": "SNOMEDCT_US:88714009"
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- {
- "val": "UMLS:C0272238"
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- {
- "val": "UMLS:C4020822"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005435",
- "lbl": "Impaired T cell function",
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- "val": "HP:0002844"
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- "val": "HP:0005373"
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- "val": "HP:0005383"
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- "val": "HP:0005409"
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- "definition": {
- "val": "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.",
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- "ORCID:0000-0001-7941-2961"
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- "val": "T-cell dysfunction"
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- "val": "UMLS:C1860127"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005437",
- "lbl": "Recurrent infections in infancy and early childhood",
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- "definition": {
- "val": "Recurrent infections at an early age with improvement in later childhood.",
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- "val": "UMLS:C1844909"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005439",
- "lbl": "Maxillozygomatic hypoplasia",
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- "definition": {
- "val": "Hypoplasia of the maxillozygomatic complex.",
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- "HPO:probinson"
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- },
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- "val": "Decreased size of zygomaticomaxillary bone complex",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Deficiency of zygomaticomaxillary bone complex",
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- "pred": "hasExactSynonym",
- "val": "Hypoplasia of malar bone complex",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasExactSynonym",
- "val": "Hypoplasia of zygomaticomaxillary complex",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasExactSynonym",
- "val": "Underdevelopment of zygomaticomaxillary bone complex",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasRelatedSynonym",
- "val": "Decreased projection of zygomaticomaxillary bone complex",
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- "val": "UMLS:C4280488"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005441",
- "lbl": "Sclerotic cranial sutures",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005442",
- "lbl": "Widely patent coronal suture",
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- "val": "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005445",
- "lbl": "Enlarged posterior fossa",
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- "definition": {
- "val": "Abnormal increased size of the posterior cranial fossa.",
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- "PMID:28295149"
- ]
- },
- "synonyms": [
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- "val": "Widened posterior fossa"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005446",
- "lbl": "Obtuse angle of mandible",
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- "See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle."
- ],
- "definition": {
- "val": "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.",
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- "synonyms": [
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- "val": "High mandibular plane angle",
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- },
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- "pred": "hasExactSynonym",
- "val": "Steep mandibular plane angle",
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- "xrefs": [
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- "val": "UMLS:C4038738"
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- "type": "CLASS"
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- {
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- "lbl": "Bridged sella turcica",
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- "val": "UMLS:C1866959"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005450",
- "lbl": "Calvarial osteosclerosis",
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- "definition": {
- "val": "An increase in bone density affecting the calvaria (roof of the skull).",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005451",
- "lbl": "Decreased cranial base ossification",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005453",
- "lbl": "Absent/hypoplastic paranasal sinuses",
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- "definition": {
- "val": "Aplasia or hypoplasia of the paranasal sinuses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856639"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005456",
- "lbl": "Absent ethmoidal sinuses",
- "meta": {
- "definition": {
- "val": "Lack (aplasia) of the ethmoidal sinus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of ethmoid sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of ethmoid sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Missing ethmoid sinuses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025194"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005458",
- "lbl": "Premature closure of fontanelles",
- "meta": {
- "definition": {
- "val": "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.",
- "xrefs": [
- "DDD:awilkie",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Obliterated fontanelles"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Early closure of the cranial sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Premature closure of the cranial sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early closure of the fontanelles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Early closure of the bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Premature closure of the bregma sutures",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003398"
- },
- {
- "val": "SNOMEDCT_US:1667003"
- },
- {
- "val": "SNOMEDCT_US:57219006"
- },
- {
- "val": "UMLS:C0010278"
- },
- {
- "val": "UMLS:C0277827"
- },
- {
- "val": "UMLS:C4072853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005461",
- "lbl": "Craniofacial disproportion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1867114"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005462",
- "lbl": "Calcification of falx cerebri",
- "meta": {
- "definition": {
- "val": "The presence of calcium deposition in the falx cerebri.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1397139"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005463",
- "lbl": "Elongated sella turcica",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1863311"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005464",
- "lbl": "Craniofacial osteosclerosis",
- "meta": {
- "definition": {
- "val": "Abnormally increased density of craniofacial bone tissue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Cranial sclerosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845805"
- },
- {
- "val": "UMLS:C4025193"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005465",
- "lbl": "Facial hyperostosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008508"
- }
- ],
- "definition": {
- "val": "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of facial skeleton",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargment of the facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive growth of facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive growth of facial skeleton",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increase in size of the facial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of facial bones",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of facial skeleton",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overgrowth of the facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of facial bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypertrophy of facial skeleton",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of facial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperostosis of facial skeleton",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypertrophy of the facial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased ossification of facial bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Increased ossification of facial skeleton",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857501"
- },
- {
- "val": "UMLS:C4280485"
- },
- {
- "val": "UMLS:C4280486"
- },
- {
- "val": "UMLS:C4280487"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005466",
- "lbl": "Hypoplasia of the frontal bone",
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- "definition": {
- "val": "Underdevelopment of the frontal bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of bone of forehead",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small bone of forehead",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of bone of forehead",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin bone of forehead",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic frontal bones"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic frontal bone",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic frontal bones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845147"
- },
- {
- "val": "UMLS:C4280483"
- },
- {
- "val": "UMLS:C4280484"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005469",
- "lbl": "Flat occiput",
- "meta": {
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- "val": "HP:0000249"
- }
- ],
- "comments": [
- "Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone."
- ],
- "definition": {
- "val": "Reduced convexity of the occiput (posterior part of skull).",
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- "PMID:19125436"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat back of skull",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat back of the head",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
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- "pred": "hasBroadSynonym",
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- "val": "Flat back of the skull",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat posterior head",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior flattening of the skull"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flat posterior cranium",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1837402"
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- {
- "val": "UMLS:C4280482"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005472",
- "lbl": "Orbital craniosynostosis",
- "meta": {
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- {
- "val": "UMLS:C4025192"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005473",
- "lbl": "Fusion of middle ear ossicles",
- "meta": {
- "definition": {
- "val": "Bony fusion of malleus, incus, and stapes.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1862068"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005474",
- "lbl": "Decreased calvarial ossification",
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- "val": "HP:0002702"
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- "val": "HP:0005454"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005471"
- }
- ],
- "comments": [
- "A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualisation of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy."
- ],
- "definition": {
- "val": "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).",
- "xrefs": [
- "DDD:awilkie",
- "HPO:probinson",
- "ORCID:0000-0001-8612-1062",
- "PMID:31173381"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Soft skullcap",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poorly ossified calvaria"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Poorly ossified calvarium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Soft calvaria"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Undermineralized calvarium"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Skull soft on palpation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833762"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005476",
- "lbl": "Widely patent sagittal suture",
- "meta": {
- "definition": {
- "val": "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.",
- "xrefs": [
- "HPO:curators"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1856779"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005477",
- "lbl": "Progressive sclerosis of skull base",
- "meta": {
- "definition": {
- "val": "Progressively increasing bone density of the skull base without significant changes in bony contour.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1835470"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005478",
- "lbl": "Prominent frontal sinuses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased size of frontal sinus",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased volume of frontal sinus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large frontal sinus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hyperplasia of frontal sinus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypertrophy of frontal sinus",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969404"
- },
- {
- "val": "UMLS:C4280265"
- },
- {
- "val": "UMLS:C4280479"
- },
- {
- "val": "UMLS:C4280480"
- },
- {
- "val": "UMLS:C4280481"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005479",
- "lbl": "Decreased circulating IgE",
- "meta": {
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- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002854"
- }
- ],
- "definition": {
- "val": "An abnormally decreased level of immunoglobulin E (IgE) in blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased IgE"
- },
- {
- "pred": "hasExactSynonym",
- "val": "IgE deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0860904"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005482",
- "lbl": "Abnormality of the alternative complement pathway",
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- "val": "2008-03-26T08:12:00Z"
- }
- ],
- "comments": [
- "The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin."
- ],
- "definition": {
- "val": "A deviation in any aspect of the alternative complement pathway."
- },
- "xrefs": [
- {
- "val": "UMLS:C4025191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005483",
- "lbl": "Abnormal epiglottis morphology",
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- "val": "2008-03-26T08:25:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the epiglottis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiglottis"
- }
- ],
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- "lbl": "Secondary microcephaly",
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- "val": "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.",
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- "val": "Microcephaly, postnatal"
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- "lbl": "Small fontanelle",
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- "val": "A fontanelle that is small for age.",
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- "pred": "hasNarrowSynonym",
- "val": "Small bregma sutures",
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- "val": "UMLS:C4072854"
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- "id": "http://purl.obolibrary.org/obo/HP_0005487",
- "lbl": "Prominent metopic ridge",
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- "The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead."
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- "id": "http://purl.obolibrary.org/obo/HP_0005490",
- "lbl": "Postnatal macrocephaly",
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- "definition": {
- "val": "The postnatal development of an abnormally large skull (macrocephaly).",
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- "pred": "hasExactSynonym",
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- "id": "http://purl.obolibrary.org/obo/HP_0005494",
- "lbl": "Premature posterior fontanelle closure",
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- "val": "UMLS:C1839126"
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- "id": "http://purl.obolibrary.org/obo/HP_0005495",
- "lbl": "Metopic suture patent to nasal root",
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- "comments": [
- "This feature is a characteristic of Schinzel-Giedion midface retraction syndrome."
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- "definition": {
- "val": "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005498",
- "lbl": "Midline skin dimples over anterior/posterior fontanelles",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005502",
- "lbl": "Increased red cell osmotic fragility",
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- "pred": "hasExactSynonym",
- "val": "Increased red cell fragility"
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- "val": "UMLS:C1849478"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005505",
- "lbl": "Refractory anemia",
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- "val": "Refractory anaemia"
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- "val": "MSH:D000753"
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- "val": "SNOMEDCT_US:128845005"
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- "val": "UMLS:C0002893"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005506",
- "lbl": "Chronic myelogenous leukemia",
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- "definition": {
- "val": "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.",
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- "val": "Chronic myelocytic leukaemia"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005507",
- "lbl": "Hemoglobin Barts",
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- "val": "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005508",
- "lbl": "Monoclonal immunoglobulin M proteinemia",
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- "comments": [
- "This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells."
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- "definition": {
- "val": "Presence of a monoclonal immunoglobulin M protein in the serum.",
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- "val": "MSH:D008258"
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- "val": "SNOMEDCT_US:190817009"
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- "val": "SNOMEDCT_US:190818004"
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- "val": "SNOMEDCT_US:35562000"
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- "val": "UMLS:C0024419"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005510",
- "lbl": "Transient erythroblastopenia",
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- "comments": [
- "An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus."
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- "definition": {
- "val": "A transient reduction in the number of erythroblasts in the circulation.",
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- "ORCID:0000-0001-5208-3432"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005511",
- "lbl": "Heinz body anemia",
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- "definition": {
- "val": "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005512",
- "lbl": "Impaired neutrophil killing of staphylococci",
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- "definition": {
- "val": "A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.",
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- "https://en.wikipedia.org/wiki/Staphylococcus_aureus"
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- "val": "UMLS:C4025188"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005513",
- "lbl": "Increased megakaryocyte count",
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- "definition": {
- "val": "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005517",
- "lbl": "T-cell lymphoma/leukemia",
- "meta": {
- "comments": [
- "T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1)."
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- "definition": {
- "val": "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.",
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- "type": "CLASS"
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- "lbl": "Increased mean corpuscular volume",
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- "comments": [
- "Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits."
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- "definition": {
- "val": "Larger than normal size of erythrocytes.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005520",
- "lbl": "Chronic disseminated intravascular coagulation",
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- "definition": {
- "val": "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.",
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- "pred": "hasExactSynonym",
- "val": "Compensated disseminated intravascular coagulation"
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- "id": "http://purl.obolibrary.org/obo/HP_0005521",
- "lbl": "Disseminated intravascular coagulation",
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- "definition": {
- "val": "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.",
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005522",
- "lbl": "Pyridoxine-responsive sideroblastic anemia",
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- "definition": {
- "val": "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.",
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- "val": "SNOMEDCT_US:25443007"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005523",
- "lbl": "Lymphoproliferative disorder",
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- "lbl": "Macrocytic hemolytic disease",
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- "type": "CLASS"
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- "lbl": "Lymphoid leukemia",
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- "definition": {
- "val": "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.",
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- "type": "CLASS"
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- "lbl": "Reduced kininogen activity",
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- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005530"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005538"
- }
- ],
- "comments": [
- "Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor."
- ],
- "definition": {
- "val": "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.",
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- "DDD:wouwehand",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fitzgerald factor deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Kininogen deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Williams factor deficiency"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Williams-Fitzgerald-Flaujeac factor deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537060"
- },
- {
- "val": "SNOMEDCT_US:27312002"
- },
- {
- "val": "UMLS:C0272340"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005528",
- "lbl": "Bone marrow hypocellularity",
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- "val": "HP:0005529"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100549"
- }
- ],
- "definition": {
- "val": "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.",
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- "DDD:wouwehand",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone marrow failure"
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- {
- "pred": "hasExactSynonym",
- "val": "Bone marrow hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic bone marrow"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855710"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005531",
- "lbl": "Biphenotypic acute leukemia",
- "meta": {
- "definition": {
- "val": "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.",
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- "HPO:probinson",
- "PMID:9107085"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Acute biphenotypic leukaemia"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Biphenotypic acute leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Myeloid/lymphoid leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Myeloid/lymphoid leukemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015456"
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- {
- "val": "SNOMEDCT_US:128818009"
- },
- {
- "val": "SNOMEDCT_US:278453007"
- },
- {
- "val": "UMLS:C0023464"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005532",
- "lbl": "Macrocytic dyserythropoietic anemia",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Macrocytic dyserythropoietic anaemia"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025183"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005534",
- "lbl": "Transient myeloproliferative syndrome",
- "meta": {
- "definition": {
- "val": "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.",
- "xrefs": [
- "PMID:22966823"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "TMD"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Transient leukaemia of Down syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transient leukemia of Down syndrome"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Transient myeloproliferative disorder"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563551"
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- {
- "val": "SNOMEDCT_US:450934005"
- },
- {
- "val": "UMLS:C1834582"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005535",
- "lbl": "Exercise-induced hemolysis",
- "meta": {
- "definition": {
- "val": "A form of hemolytic anemia that can be triggered by exertion.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005537",
- "lbl": "Decreased mean platelet volume",
- "meta": {
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- "val": "HP:0001938"
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- "comments": [
- "Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL)."
- ],
- "definition": {
- "val": "Average platelet volume below the lower limit of the normal reference interval.",
- "xrefs": [
- "DDD:wouwehand"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small platelet size"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small platelets"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small platelets size"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1096368"
- },
- {
- "val": "UMLS:C1833182"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005539",
- "lbl": "T cell chronic lymphocytic lymphoma/leukemia",
- "meta": {
- "definition": {
- "val": "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.",
- "xrefs": [
- "ISBN:9780721600406"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025181"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005540",
- "lbl": "Red blood cell keratocytosis",
- "meta": {
- "comments": [
- "Kerato- is derived from the Greek word for horn."
- ],
- "definition": {
- "val": "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "RBC keratocytosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Distorted red blood cells resembling keratocytes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021635"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005541",
- "lbl": "Congenital agranulocytosis",
- "meta": {
- "definition": {
- "val": "Congenital onset of a marked decrease in the number of granulocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C537592"
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- {
- "val": "SNOMEDCT_US:89655007"
- },
- {
- "val": "UMLS:C1853118"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005542",
- "lbl": "Prolonged whole-blood clotting time",
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- "val": "HP:0003229"
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- ],
- "definition": {
- "val": "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Prolonged clotting time"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0151563"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005543",
- "lbl": "Reduced protein C activity",
- "meta": {
- "comments": [
- "Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis."
- ],
- "definition": {
- "val": "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Protein C deficiency"
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- ],
- "xrefs": [
- {
- "val": "MSH:D020151"
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- {
- "val": "SNOMEDCT_US:76407009"
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- {
- "val": "UMLS:C0398625"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005546",
- "lbl": "Increased red cell osmotic resistance",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1858628"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005547",
- "lbl": "Myeloproliferative disorder",
- "meta": {
- "comments": [
- "There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis."
- ],
- "definition": {
- "val": "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D009196"
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- {
- "val": "SNOMEDCT_US:414794006"
- },
- {
- "val": "SNOMEDCT_US:425333006"
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- {
- "val": "UMLS:C0027022"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005548",
- "lbl": "Megakaryocytopenia",
- "meta": {
- "comments": [
- "Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes."
- ],
- "definition": {
- "val": "A reduced count of megakaryocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1858312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005549",
- "lbl": "obsolete Congenital neutropenia",
- "meta": {
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- "val": "HP:0001875"
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- ],
- "comments": [
- "This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset."
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005550",
- "lbl": "Chronic lymphatic leukemia",
- "meta": {
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- "val": "HP:0006734"
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- "val": "HP:0006760"
- }
- ],
- "definition": {
- "val": "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Chronic lymphatic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Chronic lymphocytic leukaemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chronic lymphocytic leukemia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015451"
- },
- {
- "val": "SNOMEDCT_US:277473004"
- },
- {
- "val": "SNOMEDCT_US:51092000"
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- {
- "val": "SNOMEDCT_US:92814006"
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- {
- "val": "UMLS:C0023434"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005556",
- "lbl": "Abnormality of the metopic suture",
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- "val": "2008-03-27T10:04:00Z"
- }
- ],
- "definition": {
- "val": "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\".",
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- "HPO:curators"
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- "xrefs": [
- {
- "val": "UMLS:C4025180"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005557",
- "lbl": "Abnormal zygomatic arch morphology",
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- "comments": [
- "The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone."
- ],
- "definition": {
- "val": "An abnormality of the zygomatic arch, also known as the cheek bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the zygomatic arch"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the malar arch",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the malar arch",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasNarrowSynonym",
- "val": "Anomaly of the zygomatic arch",
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- "pred": "hasNarrowSynonym",
- "val": "Deformity of the malar arch",
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- "val": "Malformation of the malar arch",
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- "pred": "hasNarrowSynonym",
- "val": "Malformation of the zygomatic arch",
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- "ORCID:0000-0001-5889-4463"
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- "xrefs": [
- {
- "val": "UMLS:C4025179"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005558",
- "lbl": "Chronic leukemia",
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- "val": "2008-03-27T10:32:00Z"
- }
- ],
- "definition": {
- "val": "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.",
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- },
- "synonyms": [
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- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
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- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Chronic blood cancer",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- "val": "SNOMEDCT_US:128933000"
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- "val": "SNOMEDCT_US:92812005"
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- "val": "UMLS:C1279296"
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- "val": "UMLS:C4280478"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005559",
- "lbl": "Abnormality of the kinin-kallikrein system",
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- "val": "2008-03-27T10:34:00Z"
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- "val": "UMLS:C4025178"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005560",
- "lbl": "Imbalanced hemoglobin synthesis",
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- "val": "2008-03-27T10:44:00Z"
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- "comments": [
- "While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography."
- ],
- "definition": {
- "val": "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Imbalanced Hb synthesis"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005561",
- "lbl": "Abnormality of bone marrow cell morphology",
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- "val": "2008-03-27T10:46:00Z"
- }
- ],
- "definition": {
- "val": "An anomaly of the form or number of cells in the bone marrow.",
- "xrefs": [
- "DDD:wouwehand",
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone marrow disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the bone marrow cells"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D001855"
- },
- {
- "val": "SNOMEDCT_US:127035006"
- },
- {
- "val": "UMLS:C0005956"
- },
- {
- "val": "UMLS:C4021634"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005562",
- "lbl": "Multiple renal cysts",
- "meta": {
- "definition": {
- "val": "The presence of many cysts in the kidney.",
- "xrefs": [
- "Eurenomics:ewuehl"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple kidney cysts",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:253883006"
- },
- {
- "val": "UMLS:C0431718"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005563",
- "lbl": "Decreased numbers of nephrons",
- "meta": {
- "definition": {
- "val": "A reduction in the count of nephrons per kidney.",
- "xrefs": [
- "Eurenomics:ewuehl"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Oligonephronia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Decreased numbers of glomeruli"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1841994"
- },
- {
- "val": "UMLS:C2673888"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005564",
- "lbl": "Absence of renal corticomedullary differentiation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005581"
- }
- ],
- "definition": {
- "val": "A lack of differentiation between renal cortex and medulla on diagnostic imaging.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent renal corticomedullary differentiation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Loss of corticomedullary differentiation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849765"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005565",
- "lbl": "Reduced renal corticomedullary differentiation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005573"
- }
- ],
- "definition": {
- "val": "Reduced differentiation between renal cortex and medulla on diagnostic imaging.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Loss of definition of corticomedullary differentiation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3807131"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005567",
- "lbl": "Renal magnesium wasting",
- "meta": {
- "definition": {
- "val": "High urine magnesium in the presence of hypomagnesemia.",
- "xrefs": [
- "Eurenomics:ewuehl"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C537152"
- },
- {
- "val": "UMLS:C1835171"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005571",
- "lbl": "Increased renal tubular phosphate reabsorption",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Increased percent tubular reabsorption of phosphorus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968910"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005572",
- "lbl": "Decreased renal tubular phosphate excretion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968899"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005574",
- "lbl": "Non-acidotic proximal tubulopathy",
- "meta": {
- "definition": {
- "val": "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025176"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005575",
- "lbl": "Hemolytic-uremic syndrome",
- "meta": {
- "definition": {
- "val": "A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.",
- "xrefs": [
- "PMID:19846853",
- "PMID:28416508"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hemolytic uremic syndrome"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D006463"
- },
- {
- "val": "SNOMEDCT_US:111407006"
- },
- {
- "val": "UMLS:C0019061"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005576",
- "lbl": "Tubulointerstitial fibrosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000129"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004714"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008171"
- }
- ],
- "comments": [
- "This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086)"
- ],
- "definition": {
- "val": "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19144691",
- "PMID:22449945"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tubulointerstitial renal fibrosis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Tubulointerstitial scarring"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969372"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005579",
- "lbl": "Impaired renal ltubular reabsorption of chloride",
- "meta": {
- "definition": {
- "val": "Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.",
- "xrefs": [
- "PMID:25820368"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Impaired reabsorption of Cl",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Impaired reabsorption of Cl-",
- "xrefs": [
- "https://orcid.org/0000-0001-7941-2961"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846349"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005580",
- "lbl": "Duplication of renal pelvis",
- "meta": {
- "definition": {
- "val": "A duplication of the renal pelvis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1839269"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005583",
- "lbl": "Tubular basement membrane disintegration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005577"
- }
- ],
- "comments": [
- "Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction."
- ],
- "definition": {
- "val": "DIsruption and breaking up of the basement membrane of the tubules of the kidney.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Disintegration of the tubular basement membrane"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005584",
- "lbl": "Renal cell carcinoma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006720"
- }
- ],
- "comments": [
- "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma."
- ],
- "definition": {
- "val": "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cancer starting in small tubes in kidneys",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypernephroma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Renal carcinoma"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D002292"
- },
- {
- "val": "NCIT:C2916"
- },
- {
- "val": "SNOMEDCT_US:41607009"
- },
- {
- "val": "SNOMEDCT_US:702391001"
- },
- {
- "val": "UMLS:C0007134"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005585",
- "lbl": "Spotty hyperpigmentation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spotty increased pigmentation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patchy hyperpigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806179"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005586",
- "lbl": "Hyperpigmentation in sun-exposed areas",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased pigmentation in sun-exposed areas",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperpigmentation of exposed areas"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3805877"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005587",
- "lbl": "Profuse pigmented skin lesions",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834424"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005588",
- "lbl": "Patchy palmoplantar hyperkeratosis",
- "meta": {
- "comments": [
- "Patchy palmoplantar keratoderma may develop at sites of recurrent friction."
- ],
- "definition": {
- "val": "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Palmoplantar keratoderma, patchy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patchy palmoplantar keratoderma"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021633"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005590",
- "lbl": "Spotty hypopigmentation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy hypopigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spotty decreased pigmentation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patchy depigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806178"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005592",
- "lbl": "Giant melanosomes in melanocytes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003342"
- }
- ],
- "comments": [
- "Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin."
- ],
- "definition": {
- "val": "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Macromelanosomes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806221"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005593",
- "lbl": "Macular hypopigmented whorls, streaks, and patches",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3806616"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005595",
- "lbl": "Generalized hyperkeratosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hyperkeratosis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hyperkeratosis, generalised"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis, generalized"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969913"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005597",
- "lbl": "Congenital alopecia totalis",
- "meta": {
- "definition": {
- "val": "Loss of all scalp hair with congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025175"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005598",
- "lbl": "Facial telangiectasia in butterfly midface distribution",
- "meta": {
- "definition": {
- "val": "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Butterfly facial telangiectasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005599",
- "lbl": "Hypopigmentation of hair",
- "meta": {
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Loss of hair colour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of hair color",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hair hypopigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3278401"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005600",
- "lbl": "Congenital giant melanocytic nevus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005604"
- }
- ],
- "comments": [
- "Between 4% and 6% of these lesions will develop into a malignant melanoma."
- ],
- "definition": {
- "val": "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21139903"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Giant pigmented mole",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Giant pigmented hairy nevus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Giant pigmented nevus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536819"
- },
- {
- "val": "SNOMEDCT_US:10291008"
- },
- {
- "val": "SNOMEDCT_US:254815002"
- },
- {
- "val": "UMLS:C1842036"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005602",
- "lbl": "Progressive vitiligo",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3806428"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005603",
- "lbl": "Numerous congenital melanocytic nevi",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3806415"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005605",
- "lbl": "Large cafe-au-lait macules with irregular margins",
- "meta": {
- "comments": [
- "This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California."
- ],
- "definition": {
- "val": "Large hypermelanotic macules with jagged borders.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025174"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005606",
- "lbl": "Hyperpigmented nevi and streak",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3805692"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005607",
- "lbl": "Abnormal tracheobronchial morphology",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-28T09:03:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005940"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tracheobronchial anomalies"
- }
- ],
- "xrefs": [
- {
- "val": "Fyler:4232"
- },
- {
- "val": "UMLS:C4021631"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005608",
- "lbl": "Bilobate gallbladder",
- "meta": {
- "comments": [
- "During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders."
- ],
- "definition": {
- "val": "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.",
- "xrefs": [
- "HPO:probinson",
- "PMID:14571173",
- "PMID:16553121",
- "PMID:21170223"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilobed gallbladder"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Double gallbladder"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gallbladder duplication"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Gallbladder septated"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846422"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005609",
- "lbl": "Gallbladder dysfunction",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gallbladder dysfunction"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:51047007"
- },
- {
- "val": "UMLS:C0232769"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005612",
- "lbl": "Arthrogryposis-like hand anomaly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025173"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005613",
- "lbl": "Aplasia/hypoplasia of the femur",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006396"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006425"
- }
- ],
- "definition": {
- "val": "Absence or underdevelopment of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic to absent femora"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/aplastic femora"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851310"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005616",
- "lbl": "Accelerated skeletal maturation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002649"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005854"
- }
- ],
- "definition": {
- "val": "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Advanced bone age"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early bone maturation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:123982003"
- },
- {
- "val": "UMLS:C0545053"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005617",
- "lbl": "Bilateral camptodactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4021830"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005619",
- "lbl": "Thoracolumbar kyphosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003439"
- }
- ],
- "definition": {
- "val": "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Thoracolumbar gibbus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Thoracolumbar gibbus deformity"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855418"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005620",
- "lbl": "Hypermobility of interphalangeal joints",
- "meta": {
- "definition": {
- "val": "The ability of the interphalangeal joints to move beyond their normal range of motion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased mobility of hinge joints",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025172"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005621",
- "lbl": "Trapezoidal vertebral body",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/hp#is_observable_through",
- "val": "http://purl.obolibrary.org/obo/MAXO_0010356"
- }
- ],
- "comments": [
- "See Figure 1d in PMID:33247084."
- ],
- "definition": {
- "val": "An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side.",
- "xrefs": [
- "PMID:33247084"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Trapezoidal shaped vertebral bodies"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Trapezoidal vertebral bodies"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025171"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005622",
- "lbl": "Broad long bones",
- "meta": {
- "definition": {
- "val": "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad long bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide long bones"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widened long bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021630"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005623",
- "lbl": "Absent ossification of calvaria",
- "meta": {
- "definition": {
- "val": "Absent ossification of the calvaria (vault of the skull).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent bone maturation of skullcap",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent ossification of skull vault"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021629"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005625",
- "lbl": "Osteoporosis of vertebrae",
- "meta": {
- "definition": {
- "val": "Osteoporosis affecting predominantly the vertebrae.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025170"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005626",
- "lbl": "Posterior fusion of lumbosacral vertebrae",
- "meta": {
- "definition": {
- "val": "Bony fusion of the posterior part of the L5 vertebral body with the sacrum.",
- "xrefs": [
- "PMID:5443339"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025169"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005627",
- "lbl": "Type D brachydactyly",
- "meta": {
- "definition": {
- "val": "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Brachydactyly type D"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562420"
- },
- {
- "val": "UMLS:C0220664"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005632",
- "lbl": "Absent forearm",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent forearm"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent forearms",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1408532"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005638",
- "lbl": "Decreased anterioposterior diameter of lumbar vertebral bodies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025168"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005639",
- "lbl": "Hyperextensible hand joints",
- "meta": {
- "definition": {
- "val": "The ability of the joints of the hand to move beyond their normal range of motion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1856877"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005640",
- "lbl": "Abnormal vertebral segmentation and fusion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025167"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005643",
- "lbl": "Short 3rd toe",
- "meta": {
- "definition": {
- "val": "Underdevelopment (hypoplasia) of the third toe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short 3rd toe"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short third toe"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Brachydactyly of third toes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021628"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005645",
- "lbl": "Intervertebral disk calcification",
- "meta": {
- "definition": {
- "val": "The presence of abnormal calcium deposition of the intervertebral disk.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intervertebral disc calcification"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Multiple intervertebral disc calcifications"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple intervertebral disk calcifications"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:240211000"
- },
- {
- "val": "UMLS:C0410607"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005648",
- "lbl": "Bilateral ulnar hypoplasia",
- "meta": {
- "comments": [
- "May be a symmetric finding."
- ],
- "definition": {
- "val": "Underdevelopment of the ulna on both sides.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025166"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005650",
- "lbl": "2-5 finger cutaneous syndactyly",
- "meta": {
- "definition": {
- "val": "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous syndactyly between fingers 2 and 5"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025165"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005652",
- "lbl": "Cortical sclerosis",
- "meta": {
- "definition": {
- "val": "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025164"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005653",
- "lbl": "Moderate generalized osteoporosis",
- "meta": {
- "definition": {
- "val": "Moderate osteoporosis.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Moderate generalised osteoporosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025163"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005655",
- "lbl": "Multiple digital exostoses",
- "meta": {
- "comments": [
- "This feature is characteristic of metachondromatosis (MIM:156250)."
- ],
- "definition": {
- "val": "Multiple exostoses originating in the fingers and toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025162"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005656",
- "lbl": "Positional foot deformity",
- "meta": {
- "definition": {
- "val": "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025161"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005659",
- "lbl": "Thoracic kyphoscoliosis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4015465"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005661",
- "lbl": "Salmonella osteomyelitis",
- "meta": {
- "definition": {
- "val": "Osteomyelitis caused by infection with the bacteria, salmonella.",
- "xrefs": [
- "PMID:26668420"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Salmonella bone infection"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:6803002"
- },
- {
- "val": "UMLS:C0152491"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005665",
- "lbl": "Massively thickened long bone cortices",
- "meta": {
- "definition": {
- "val": "Extreme thickening of the cortex of long bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005667",
- "lbl": "Os odontoideum",
- "meta": {
- "comments": [
- "With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits."
- ],
- "definition": {
- "val": "Separation of the odontoid process from the body of the axis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21543665",
- "PMID:22224150"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:445242006"
- },
- {
- "val": "UMLS:C2919848"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005671",
- "lbl": "Bilateral intracerebral calcifications",
- "meta": {
- "definition": {
- "val": "Deposition of calcium salts on both sides of the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral intracranial calcifications"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025159"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005676",
- "lbl": "Rudimentary postaxial polydactyly of hands",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025158"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005678",
- "lbl": "Anterior atlanto-occipital dislocation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025157"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005679",
- "lbl": "Dupuytren contracture",
- "meta": {
- "comments": [
- "A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers."
- ],
- "definition": {
- "val": "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D004387"
- },
- {
- "val": "SNOMEDCT_US:203045001"
- },
- {
- "val": "SNOMEDCT_US:203047009"
- },
- {
- "val": "SNOMEDCT_US:274142002"
- },
- {
- "val": "SNOMEDCT_US:410813000"
- },
- {
- "val": "UMLS:C0013312"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005680",
- "lbl": "Tongue-like lumbar vertebral deformities",
- "meta": {
- "definition": {
- "val": "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.",
- "xrefs": [
- "PMID:25349664"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025156"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005681",
- "lbl": "Juvenile rheumatoid arthritis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Juvenile RA"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rheumatoid arthritis, juvenile"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Juvenile idiopathic arthritis",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/subtalar_joint"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:410795001"
- },
- {
- "val": "UMLS:C3714757"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005682",
- "lbl": "Talocalcaneal synostosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fusion of foot joint",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/subtalar_joint"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fusion of the subtalar joint",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "https://en.wikipedia.org/wiki/subtalar_joint"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025155"
- },
- {
- "val": "UMLS:C4255214"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005684",
- "lbl": "Distal arthrogryposis",
- "meta": {
- "definition": {
- "val": "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.",
- "xrefs": [
- "HPO:probinson",
- "PMID:8923935"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:24269006"
- },
- {
- "val": "UMLS:C0265213"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005686",
- "lbl": "Patchy osteosclerosis",
- "meta": {
- "definition": {
- "val": "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Uneven increase in bone density",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patchy increase of bone mineral density",
- "xrefs": [
- "HPO:curators"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855845"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005687",
- "lbl": "Deformed humeral heads",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deformed head of long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025154"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005688",
- "lbl": "Dysplastic distal thumb phalanges with a central hole",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025153"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005689",
- "lbl": "Dermatoglyphic ridges abnormal",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025152"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005692",
- "lbl": "Joint hyperflexibility",
- "meta": {
- "definition": {
- "val": "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Joints move beyond expected range of motion",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3553764"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005694",
- "lbl": "Partial fusion of proximal row of carpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial fusion of innermost row of wrist bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3152021"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005696",
- "lbl": "Postaxial polydactyly type A",
- "meta": {
- "definition": {
- "val": "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C562429"
- },
- {
- "val": "SNOMEDCT_US:715704001"
- },
- {
- "val": "UMLS:C3887487"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005700",
- "lbl": "Increased bone density with cystic changes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025151"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005701",
- "lbl": "Multiple enchondromatosis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D004687"
- },
- {
- "val": "SNOMEDCT_US:268274005"
- },
- {
- "val": "UMLS:C0014084"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005707",
- "lbl": "Bilateral triphalangeal thumbs",
- "meta": {
- "definition": {
- "val": "A bilateral form of triphalangeal thumb.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral digitalized thumb"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021627"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005709",
- "lbl": "2-3 toe cutaneous syndactyly",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed skin of 2nd-3rd toes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complete cutaneous syndactyly of second and third toes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous 2,3 toe syndactyly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous syndactyly of second and third toes"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:205145001"
- },
- {
- "val": "UMLS:C0432040"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005715",
- "lbl": "Flattened knee epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened end part of knee bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025150"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005716",
- "lbl": "Lethal skeletal dysplasia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0008898"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lethal dwarfism identifiable at birth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021626"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005720",
- "lbl": "Shortening of all metacarpals",
- "meta": {
- "definition": {
- "val": "Abnormal reduction in length of all metacarpal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025149"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005722",
- "lbl": "Hyperextensible thumb",
- "meta": {
- "definition": {
- "val": "The ability of the thumb joints to move beyond their normal range of motion.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Double jointed thumb",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025148"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005723",
- "lbl": "Shoe-shaped sella turcica",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025147"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005725",
- "lbl": "Nonopposable triphalangeal thumb",
- "meta": {
- "definition": {
- "val": "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C536562"
- },
- {
- "val": "UMLS:C2931238"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005726",
- "lbl": "Thumbs hypoplastic with bulbous tips",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short thumbs with bulbous tips",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025146"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005731",
- "lbl": "Cortical irregularity",
- "meta": {
- "definition": {
- "val": "An abnormal irregularity of cortical bone.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025145"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005733",
- "lbl": "Spinal stenosis with reduced interpedicular distance",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004597"
- }
- ],
- "comments": [
- "The pedicles are two short, thick processes that connect the body of the vertebrae to the arch."
- ],
- "definition": {
- "val": "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spinal stenosis due to short pedicles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021625"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005736",
- "lbl": "Short tibia",
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- "val": "HP:0006436"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006445"
- }
- ],
- "definition": {
- "val": "Underdevelopment (reduced size) of the tibia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short shinbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short skankbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of the tibia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic tibia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short tibiae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortening of the shankbone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortening of the shinbone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shortening of the tibia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850259"
- },
- {
- "val": "UMLS:C1855277"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005739",
- "lbl": "Posterior subluxation of radial head",
- "meta": {
- "definition": {
- "val": "Partial dislocation of the head of the radius in the posterior direction.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3149878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005743",
- "lbl": "Avascular necrosis of the capital femoral epiphysis",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003280"
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- "val": "HP:0006448"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010887"
- }
- ],
- "comments": [
- "In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh."
- ],
- "definition": {
- "val": "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.",
- "xrefs": [
- "HPO:probinson",
- "PMID:29481348",
- "PMID:30020602"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Osteochondrosis of the femoral head"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Osteonecrosis of the femoral head"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Perthes-like femoral head changes"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Coxa plana"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Legg-Calve-Perthes syndrome"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Legg-Perthes disease"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Morbus Legg-Calve-Perthes"
- }
- ],
- "xrefs": [
- {
- "val": "ICD-10:M91.1"
- },
- {
- "val": "MSH:D007873"
- },
- {
- "val": "SNOMEDCT_US:111255008"
- },
- {
- "val": "SNOMEDCT_US:240241003"
- },
- {
- "val": "UMLS:C0023234"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005744",
- "lbl": "obsolete Generalized osteoporosis with pathologic fractures",
- "meta": {
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0040160"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005745",
- "lbl": "Congenital foot contractures",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025144"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005746",
- "lbl": "Osteosclerosis of the base of the skull",
- "meta": {
- "comments": [
- "Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull."
- ],
- "definition": {
- "val": "An increase in bone density affecting the basicranium (base of the skull).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Osteosclerosis of the skull base"
- }
- ],
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- {
- "val": "UMLS:C4021624"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005747",
- "lbl": "Easily subluxated first metacarpophalangeal joints",
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- {
- "val": "UMLS:C4025143"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005750",
- "lbl": "Lower-limb joint contracture",
- "meta": {
- "definition": {
- "val": "A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Contractures of the joints of the lower limbs"
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- {
- "pred": "hasExactSynonym",
- "val": "Contractures, lower limbs"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859523"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005752",
- "lbl": "Flattened moderately deformed vertebrae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025142"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005756",
- "lbl": "Neonatal epiphyseal stippling",
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- "definition": {
- "val": "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Speckled calcifications in bone end parts in neonates",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Epiphyseal stippling in neonates"
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- ],
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- {
- "val": "UMLS:C4021623"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005758",
- "lbl": "Basilar impression",
- "meta": {
- "definition": {
- "val": "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.",
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- "HPO:probinson",
- "PMID:10084535"
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- },
- "xrefs": [
- {
- "val": "MSH:D010985"
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- {
- "val": "SNOMEDCT_US:86587003"
- },
- {
- "val": "UMLS:C0032209"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005759",
- "lbl": "Small flat posterior fossa",
- "meta": {
- "definition": {
- "val": "An abnormally small and flat configuration of the posterior cranial fossa.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Small and flat posterior fossa of skull",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small and flat posterior skull bones",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025141"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005764",
- "lbl": "Polyarticular arthritis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D001168"
- },
- {
- "val": "SNOMEDCT_US:416956002"
- },
- {
- "val": "SNOMEDCT_US:417373000"
- },
- {
- "val": "UMLS:C0162323"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005765",
- "lbl": "Sacral meningocele",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95478002"
- },
- {
- "val": "UMLS:C0521556"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005766",
- "lbl": "Disproportionate shortening of the tibia",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionate shortening of the shankbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disproportionate shortening of the shinbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Marked shortening of tibia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806516"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005767",
- "lbl": "1-2 toe complete cutaneous syndactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025140"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005768",
- "lbl": "2-4 toe cutaneous syndactyly",
- "meta": {
- "definition": {
- "val": "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed 2nd, 3rd and 4th toes",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed second, third and fourth toes",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Soft tissue syndactyly of toes 2, 3, and 4"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021622"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005769",
- "lbl": "Fifth finger distal phalanx clinodactyly",
- "meta": {
- "definition": {
- "val": "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curvature of outermost bone of little finger",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curvature of outermost bone of pinkie finger",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curvature of outermost bone of pinky finger",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025139"
- },
- {
- "val": "UMLS:C4280477"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005772",
- "lbl": "Aplasia/Hypoplasia of the tibia",
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- "definition": {
- "val": "Absence or underdevelopment of the tibia.",
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- "HPO:curators"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small shankbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small shinbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped shankbone",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped shinbone",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/hypoplastic tibia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic/hypoplastic tibia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969181"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005773",
- "lbl": "Short forearm",
- "meta": {
- "definition": {
- "val": "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short forearm"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855299"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005775",
- "lbl": "Multiple skeletal anomalies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025138"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005776",
- "lbl": "Carpal bone malsegmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025137"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005780",
- "lbl": "Absent fourth finger distal interphalangeal crease",
- "meta": {
- "definition": {
- "val": "Absence of the distal interphalangeal flexion creases of the fourth finger.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "No fourth finger distal interphalangeal crease"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021621"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005781",
- "lbl": "Contractures of the large joints",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1859698"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005787",
- "lbl": "Lumbar platyspondyly",
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- "val": "HP:0004588"
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- ],
- "definition": {
- "val": "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025136"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005788",
- "lbl": "Abnormal cervical myelogram",
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- "xrefs": [
- {
- "val": "UMLS:C4025135"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005789",
- "lbl": "Generalized osteosclerosis",
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- "val": "HP:0005805"
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- "definition": {
- "val": "An abnormal increase of bone mineral density with generalized involvement of the skeleton.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised osteosclerosis"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased bone density in skeletal bones",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse, symmetrical osteosclerosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Osteosclerosis, diffuse symmetrical"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843331"
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- {
- "val": "UMLS:C4280476"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005790",
- "lbl": "Short mandibular condyles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral hypoplasia of condylar process of mandible",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral hypoplasia of mandibular condylar head",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral hypoplasia of mandibular condylar neck",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased height of condylar process of mandible",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased length of condylar process of mandible",
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- },
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- "pred": "hasExactSynonym",
- "val": "Short condylar process of mandible",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasNarrowSynonym",
- "val": "Short condylar head of mandible",
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Short condylar neck of mandible",
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- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
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- "val": "UMLS:C4025134"
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- {
- "val": "UMLS:C4280474"
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- {
- "val": "UMLS:C4280475"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005791",
- "lbl": "Cortical thickening of long bone diaphyses",
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- "definition": {
- "val": "Abnormal thickening of the cortex of the diaphyseal region of long bones.",
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- },
- "xrefs": [
- {
- "val": "UMLS:C4025133"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005792",
- "lbl": "Short humerus",
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- "val": "HP:0003014"
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- "val": "HP:0003064"
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- "val": "HP:0006468"
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- "definition": {
- "val": "Underdevelopment of the humerus.",
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- },
- "subsets": [
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- "synonyms": [
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- "val": "Short humerus"
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- "pred": "hasExactSynonym",
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- "val": "Short upper arms"
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- "pred": "hasExactSynonym",
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- "val": "Short long bone of upper arm",
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- },
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- "pred": "hasExactSynonym",
- "val": "Humeral hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Humeral shortening"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic humerus"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Short humeri"
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- ],
- "xrefs": [
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- "val": "UMLS:C1832117"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005793",
- "lbl": "Shortening of all distal phalanges of the toes",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005794",
- "lbl": "obsolete Arterial disease of legs",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005798",
- "lbl": "Posterior radial head dislocation",
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- "definition": {
- "val": "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.",
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- "val": "UMLS:C1867398"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005802",
- "lbl": "Coalescence of tarsal bones",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005807",
- "lbl": "Absent distal phalanges",
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Absent outermost digital bones",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005815",
- "lbl": "Supernumerary ribs",
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- "lbl": "Superior rib anomalies",
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- "lbl": "Clinodactyly of the 2nd toe",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005825",
- "lbl": "Mixed sclerosis of humeral metaphyses",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005828",
- "lbl": "Transient pulmonary infiltrates",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005829",
- "lbl": "Maldevelopment of radioulnar joint",
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- "type": "CLASS"
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- "lbl": "Flexion contracture of toe",
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- "type": "CLASS"
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- "lbl": "Type B brachydactyly",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005833",
- "lbl": "obsolete Joint swelling onset late infancy",
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- "lbl": "obsolete Thumbs hypo/aplastic",
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- "lbl": "obsolete Joint dislocations in young adult",
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- "lbl": "Rounded middle phalanx of finger",
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- "lbl": "obsolete Bifid thumb distal phalanx",
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- "id": "http://purl.obolibrary.org/obo/HP_0005849",
- "lbl": "Diffuse cerebral calcification",
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- "val": "Generalized deposition of calcium salts within the brain.",
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- "lbl": "Congenital talipes calcaneovalgus",
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- "lbl": "Limited elbow extension and supination",
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- "lbl": "Congenital foot contraction deformities",
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- "lbl": "Multiple prenatal fractures",
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- "lbl": "Ulnar radial head dislocation",
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- "lbl": "Cervical spina bifida",
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- "id": "http://purl.obolibrary.org/obo/HP_0005864",
- "lbl": "Pseudoarthrosis",
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- "val": "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\").",
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- "lbl": "Opposable triphalangeal thumb",
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- "val": "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.",
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- "type": "CLASS"
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- "val": "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.",
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- "definition": {
- "val": "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.",
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- "lbl": "Increased dermatoglyphic whorls",
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- "lbl": "Progressive flexion contractures",
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- "val": "Progressively worsening joint contractures.",
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- "lbl": "Congenital finger flexion contractures",
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- "definition": {
- "val": "Multiple bent (flexed) finger joints that cannot be straightened actively or passively.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005880",
- "lbl": "Metacarpophalangeal synostosis",
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- "val": "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005881",
- "lbl": "Spinal instability",
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- "lbl": "Dermatoglyphic variants",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005885",
- "lbl": "Absent ossification of cervical vertebral bodies",
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- "val": "A lack of bone mineralization of one or more body of cervical vertebra.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005886",
- "lbl": "Aphalangy of the hands",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005890",
- "lbl": "Hyperostosis cranialis interna",
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- },
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- "val": "MSH:C564168"
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- "val": "UMLS:C1840404"
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- "val": "UMLS:C4280468"
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- "val": "UMLS:C4280469"
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- "val": "UMLS:C4280470"
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- "val": "UMLS:C4280471"
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- "val": "UMLS:C4280472"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005891",
- "lbl": "Progressive forearm bowing",
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- "val": "Progressive bending or abnormal curvature of the forearm skeleton.",
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- },
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- "type": "CLASS"
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- "lbl": "Proximal tibial and fibular fusion",
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- "val": "Fusion of innermost shinbone and calf bone",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005894",
- "lbl": "Double first metacarpals",
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- "val": "Duplication of the metacarpal I bones.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Double 1st long bones of hand",
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- ],
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- "val": "UMLS:C4025112"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005895",
- "lbl": "Radial deviation of thumb terminal phalanx",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005897",
- "lbl": "Severe generalized osteoporosis",
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- "val": "Severe degree of osteoporosis.",
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- "synonyms": [
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- "val": "Severe generalised osteoporosis"
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- "val": "Severe, generalised osteoporosis"
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- "pred": "hasExactSynonym",
- "val": "Severe, generalized osteoporosis"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005899",
- "lbl": "obsolete Metaphyseal dysostosis",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005900",
- "lbl": "Fifth metacarpal with ulnar notch",
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- "definition": {
- "val": "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Fifth metacarpal notched on ulnar side"
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- "xrefs": [
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- "val": "UMLS:C3276324"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005901",
- "lbl": "obsolete Chronic recurrent multifocal osteomyelitis",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005905",
- "lbl": "Abnormal cervical curvature",
- "meta": {
- "definition": {
- "val": "The presence of an abnormal curvature of the cervical vertebral column.",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal neck curve",
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- "val": "UMLS:C3151523"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005906",
- "lbl": "Delayed pneumatization of the mastoid process",
- "meta": {
- "definition": {
- "val": "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Mastoid processes poorly pneumatized"
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- "val": "UMLS:C4021617"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005910",
- "lbl": "Rhomboid or triangular shaped 5th finger middle phalanx",
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- "definition": {
- "val": "Rhomboid or triangular shaped 5th (little) finger middle phalanx.",
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- "pred": "hasExactSynonym",
- "val": "Rhomboid or triangular shaped fifth finger middle phalanx"
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- "val": "UMLS:C4021616"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005912",
- "lbl": "Biliary atresia",
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- "val": "2008-03-27T02:07:00Z"
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- ],
- "definition": {
- "val": "Atresia of the biliary tree.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Biliary duct atresia"
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- "xrefs": [
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- "val": "MSH:D001656"
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- "val": "SNOMEDCT_US:77480004"
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- "val": "SNOMEDCT_US:82821008"
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- "val": "UMLS:C0005411"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005913",
- "lbl": "Abnormal metacarpal epiphysis morphology",
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- "val": "Abnormality of end part of long bone of hand",
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- "type": "CLASS"
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- "lbl": "Aplasia/Hypoplasia involving the metacarpal bones",
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- "val": "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4021613"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005921",
- "lbl": "obsolete Abnormal ossification of hand bones",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0010660"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005922",
- "lbl": "Abnormal hand morphology",
- "meta": {
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- "val": "2008-03-27T02:25:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003098"
- }
- ],
- "comments": [
- "This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions."
- ],
- "definition": {
- "val": "Any structural anomaly of the hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025109"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005923",
- "lbl": "Abnormal hand metaphysis morphology",
- "meta": {
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- "val": "2008-03-27T02:27:00Z"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the wide portion of the hand bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormalities of the metaphyses of the hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025108"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005924",
- "lbl": "Abnormal hand epiphysis morphology",
- "meta": {
- "basicPropertyValues": [
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- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-27T02:28:00Z"
- }
- ],
- "definition": {
- "val": "Any abnormality of the epiphyses of the phalanges or metacarpal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the end part of the hand bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the end part of the hand bones"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiphyses of the fingers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiphyses of the hand"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiphyses of the phalanges of the hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025107"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005925",
- "lbl": "Abnormal hand diaphysis morphology",
- "meta": {
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- "val": "2008-03-27T02:28:00Z"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormalities of shaft of long bone of the hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormalities of the diaphyses of the hand"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025106"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005926",
- "lbl": "Abnormal hand cortical bone morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "2008-03-27T02:29:00Z"
- }
- ],
- "definition": {
- "val": "An anomaly of the outer shell (cortex) of a hand bone."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of hand cortical bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the cortex of hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025105"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005927",
- "lbl": "Aplasia/hypoplasia involving bones of the hand",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
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- {
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- "val": "2008-03-27T02:29:00Z"
- }
- ],
- "definition": {
- "val": "Absence (due to failure to form) or underdevelopment of the bones of the hand.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped hand bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia/absence of hand bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021612"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005928",
- "lbl": "Synostosis involving the fibula",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-03-27T02:34:00Z"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone fusion involving the calf bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025104"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005929",
- "lbl": "Synostosis involving the tibia",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
- },
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- "val": "2008-03-27T02:34:00Z"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bone fusion involving the shinbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025103"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005930",
- "lbl": "Abnormal epiphysis morphology",
- "meta": {
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- "val": "2008-03-27T03:00:00Z"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000936"
- }
- ],
- "definition": {
- "val": "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal shape of end part of bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of epiphysis morphology"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the epiphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anomaly of the epiphyses"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epiphyseal abnormality"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005932",
- "lbl": "Abnormal renal corticomedullary differentiation",
- "meta": {
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- "val": "2008-03-27T03:21:00Z"
- }
- ],
- "comments": [
- "On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. Progressive corticomedullary differentiation (CMD) can be visualized as an echogenic cortex and a hypoechoic medulla. This CMD should be visible during the midtrimester sonographic evaluation."
- ],
- "definition": {
- "val": "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.",
- "xrefs": [
- "HPO:probinson",
- "PMID:22528889"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025102"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005934",
- "lbl": "Imperfect vocal cord adduction",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025101"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005938",
- "lbl": "Abnormal respiratory motile cilium morphology",
- "meta": {
- "definition": {
- "val": "Abnormal arrangement of the structures of the motile cilium.",
- "xrefs": [
- "HPO:probinson",
- "MP:0011050"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025100"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005939",
- "lbl": "Multiple bilateral pneumothoraces",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025099"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005941",
- "lbl": "Intermittent hyperpnea at rest",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025098"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005942",
- "lbl": "Desquamative interstitial pneumonitis",
- "meta": {
- "comments": [
- "The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP."
- ],
- "definition": {
- "val": "Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.",
- "xrefs": [
- "LMU:crapp",
- "PMID:14338290",
- "PMID:16728712",
- "PMID:16738196",
- "PMID:23728865",
- "PMID:25657025"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Filling of the alveoli with alveolar macrophages"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Filling of the alveoli with desquamated epithelial cells"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Intra-alveolar accumulation of macrophages"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562470"
- },
- {
- "val": "SNOMEDCT_US:8549006"
- },
- {
- "val": "UMLS:C0238378"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005943",
- "lbl": "Respiratory arrest",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Breathing cessation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:87317003"
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- {
- "val": "UMLS:C0162297"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005944",
- "lbl": "Bilateral lung agenesis",
- "meta": {
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- "val": "HP:0006550"
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- ],
- "definition": {
- "val": "Bilateral lack of development of the lungs.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent lungs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Bilateral pulmonary agenesis"
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- ],
- "xrefs": [
- {
- "val": "Fyler:4206"
- },
- {
- "val": "UMLS:C4021610"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005945",
- "lbl": "Laryngeal obstruction",
- "meta": {
- "definition": {
- "val": "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:61169001"
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- {
- "val": "UMLS:C0264306"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005946",
- "lbl": "Ventilator dependence with inability to wean",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025097"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005947",
- "lbl": "Decreased sensitivity to hypoxemia",
- "meta": {
- "comments": [
- "Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood)."
- ],
- "definition": {
- "val": "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased sensitivity to hypoxemia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased sensitivity to hypoxaemia",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3806286"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005948",
- "lbl": "Multiple pulmonary cysts",
- "meta": {
- "comments": [
- "Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH."
- ],
- "definition": {
- "val": "The presence of multiple lung cysts.",
- "xrefs": [
- "PMID:20028879"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cystic lung disease"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple lung cysts"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563237"
- },
- {
- "val": "UMLS:C1384901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005949",
- "lbl": "Apneic episodes in infancy",
- "meta": {
- "definition": {
- "val": "Recurrent episodes of apnea occurring during infancy.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3807980"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005950",
- "lbl": "Laryngeal web",
- "meta": {
- "comments": [
- "Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry)."
- ],
- "definition": {
- "val": "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Partial laryngeal atresia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Laryngeal webs",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:297159008"
- },
- {
- "val": "UMLS:C0281890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005951",
- "lbl": "Progressive inspiratory stridor",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025096"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005952",
- "lbl": "obsolete Decreased pulmonary function",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002795"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005954",
- "lbl": "Pulmonary capillary hemangiomatosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary hemangiomas"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C0340548"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005956",
- "lbl": "Anteroposteriorly shortened larynx",
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- "val": "Abnormal shortening of the larynx in the anteroposterior (front to back) axis.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C3805994"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005957",
- "lbl": "Breathing dysregulation",
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- {
- "val": "UMLS:C3808046"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005959",
- "lbl": "Impaired gluconeogenesis",
- "meta": {
- "definition": {
- "val": "An impairment of gluconeogenesis.",
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- "HPO:gcarletti"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Gluconeogenesis impaired"
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- ],
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- {
- "val": "UMLS:C3279336"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005961",
- "lbl": "Hypoargininemia",
- "meta": {
- "definition": {
- "val": "A decreased concentration of arginine in the blood.",
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- "HPO:gcarletti"
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- },
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- {
- "pred": "hasExactSynonym",
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- "val": "Low blood arginine levels",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Arginine deficiency"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1859735"
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- {
- "val": "UMLS:C4025095"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005964",
- "lbl": "Intermittent hypothermia",
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- "definition": {
- "val": "Episodes of reduced body termperature.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- "val": "Intermittent abnormally low body temperature",
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- "val": "UMLS:C1837639"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005967",
- "lbl": "Mixed respiratory and metabolic acidosis",
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- {
- "val": "UMLS:C1840372"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005968",
- "lbl": "Temperature instability",
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- "definition": {
- "val": "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.",
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- "HPO:curators"
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- "val": "Temperature instability"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Body temperature instability",
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1820737"
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- {
- "val": "UMLS:C3279038"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005972",
- "lbl": "Respiratory acidosis",
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- "definition": {
- "val": "Acidosis because of respiratory retention of carbon dioxide.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D000142"
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- {
- "val": "SNOMEDCT_US:12326000"
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- {
- "val": "UMLS:C0001127"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005973",
- "lbl": "Fructose intolerance",
- "meta": {
- "definition": {
- "val": "Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.",
- "xrefs": [
- "PMID:24357350"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Fructose malabsorption"
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- ],
- "xrefs": [
- {
- "val": "MSH:D005633"
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- {
- "val": "SNOMEDCT_US:20052008"
- },
- {
- "val": "UMLS:C0016751"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005974",
- "lbl": "Episodic ketoacidosis",
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- "val": "HP:0005983"
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- ],
- "definition": {
- "val": "Intermittent episodes of ketoacidosis.",
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- },
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- {
- "pred": "hasExactSynonym",
- "val": "Ketoacidosis, episodic"
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- "val": "UMLS:C1859860"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005976",
- "lbl": "Hyperkalemic metabolic acidosis",
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- "val": "UMLS:C1865880"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005977",
- "lbl": "Hypochloremic metabolic alkalosis",
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- "val": "UMLS:C0740895"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005978",
- "lbl": "Type II diabetes mellitus",
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- ],
- "comments": [
- "Persons with type II diabetes mellitus rarely develop ketoacidosis."
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- "definition": {
- "val": "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.",
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- "HPO:probinson"
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Noninsulin-dependent diabetes"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Type 2 diabetes"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Type II diabetes"
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "NIDDM",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Diabetes mellitus Type II"
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- {
- "pred": "hasExactSynonym",
- "val": "Diabetes mellitus, noninsulin-dependent"
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- {
- "pred": "hasExactSynonym",
- "val": "NIDDM diabetes mellitus"
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- {
- "pred": "hasExactSynonym",
- "val": "Non-insulin dependent diabetes"
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- {
- "pred": "hasExactSynonym",
- "val": "Noninsulin dependent diabetes mellitus"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Diabetes mellitus type 2"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Noninsulin-dependent diabetes mellitus"
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- ],
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- "val": "MSH:D003924"
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- "val": "SNOMEDCT_US:44054006"
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- {
- "val": "UMLS:C0011860"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005979",
- "lbl": "Metabolic ketoacidosis",
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- "definition": {
- "val": "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake."
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- {
- "pred": "hasExactSynonym",
- "val": "Starvation ketoacidosis"
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- "val": "MSH:D007662"
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- "val": "UMLS:C1854704"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005982",
- "lbl": "Reduced phenylalanine hydroxylase level",
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- "definition": {
- "val": "A reduction in phenylalanine 4-monooxygenase level.",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasRelatedSynonym",
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- "val": "MSH:D010661"
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- "val": "SNOMEDCT_US:7573000"
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- "val": "UMLS:C0751434"
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- "val": "UMLS:C4025094"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005984",
- "lbl": "Elevated maternal serum alpha-fetoprotein",
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- "definition": {
- "val": "An elevation of alpha-feto protein in the maternal serum.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C0740927"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005986",
- "lbl": "Limitation of neck motion",
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- "pred": "hasExactSynonym",
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- "val": "Limited neck mobility",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Restricted neck movement"
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- "val": "MSH:D009127"
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- "val": "SNOMEDCT_US:161882006"
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- "val": "SNOMEDCT_US:405947006"
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- "val": "UMLS:C0151315"
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- "val": "UMLS:C1320474"
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- "val": "UMLS:C1847392"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005987",
- "lbl": "Multinodular goiter",
- "meta": {
- "definition": {
- "val": "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.",
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- "DDD:spark"
- ]
- },
- "synonyms": [
- {
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- "val": "SNOMEDCT_US:237570007"
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- "val": "UMLS:C0342208"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005988",
- "lbl": "Congenital muscular torticollis",
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- "comments": [
- "Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis."
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- "definition": {
- "val": "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.",
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- "HPO:probinson"
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- "pred": "hasExactSynonym",
- "val": "Torticollis, congenital"
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- "val": "MSH:C535425"
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- "val": "SNOMEDCT_US:268240006"
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- "val": "UMLS:C0079352"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005989",
- "lbl": "Redundant neck skin",
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- "comments": [
- "With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used."
- ],
- "definition": {
- "val": "Excess skin around the neck, often lying in horizontal folds.",
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- "PMID:19125436"
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- "val": "Redundant skin over the neck"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005990",
- "lbl": "Thyroid hypoplasia",
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- "val": "Hypoplastic thyroid"
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- "id": "http://purl.obolibrary.org/obo/HP_0005991",
- "lbl": "Limited neck flexion",
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- "definition": {
- "val": "Reduced abilty to lower the chin towards the chest by bending the neck."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Limited cervical flexion",
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- "type": "CLASS"
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- "lbl": "Nodular goiter",
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- "definition": {
- "val": "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.",
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- "HPO:probinson"
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- },
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- "val": "SNOMEDCT_US:419153005"
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- "val": "UMLS:C0018023"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0005995",
- "lbl": "Decreased adipose tissue around neck",
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- "definition": {
- "val": "Reduced amount of adipose tissue in the region of the neck.",
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- "val": "Loss of adipose tissue around the neck"
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- ]
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0005997",
- "lbl": "Neck joint contracture",
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- "val": "Neck joint contracture"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0005999",
- "lbl": "Ureteral atresia",
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- "definition": {
- "val": "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.",
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- "HPO:probinson"
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- "lbl": "Ureteral obstruction",
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- "val": "Obstruction of the flow of urine through the ureter.",
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- "HPO:probinson"
- ]
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- "val": "Fyler:4492"
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- "val": "UMLS:C0041956"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006006",
- "lbl": "Hypotrophy of the small hand muscles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Degeneration of small hand muscles",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843228"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006008",
- "lbl": "Unilateral brachydactyly",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short digits on one side",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1868164"
- },
- {
- "val": "UMLS:C4280467"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006009",
- "lbl": "Broad phalanx",
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- "val": "HP:0006030"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006249"
- }
- ],
- "definition": {
- "val": "Increased side-to-side width of one or more phalanges of the fingers or toes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide digital bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Broad phalanges"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide phalanges"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened phalanges"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855185"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006011",
- "lbl": "Cuboidal metacarpal",
- "meta": {
- "comments": [
- "The metacarpals are normally tubular in appearance."
- ],
- "definition": {
- "val": "Severely shortened metacarpal with a cuboidal appearance.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short, cube shaped long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025093"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006012",
- "lbl": "Widened metacarpal shaft",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad shaft of long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850159"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006014",
- "lbl": "Abnormally shaped carpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally shaped wrist bones",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860111"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006016",
- "lbl": "Delayed phalangeal epiphyseal ossification",
- "meta": {
- "definition": {
- "val": "Delay in the process of formation and maturation of the epiphysis of one or more phalanx.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed bone maturation of end part of digital bone",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed phalangeal epiphyseal bone maturation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021609"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006019",
- "lbl": "Reduced proximal interphalangeal joint space",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased space in hinge joint",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861396"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006026",
- "lbl": "Rounded epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rounded end part of bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850632"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006028",
- "lbl": "Metaphyseal cupping of metacarpals",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006131"
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- ],
- "definition": {
- "val": "Metaphyseal cupping affecting the metacarpal bones.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cupping of wide portion of long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Metacarpal/metaphyseal cupping"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855171"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006035",
- "lbl": "Cone-shaped epiphyses of phalanges 2 to 5",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone-shaped end part of digital bones 2 to 5",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857005"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006040",
- "lbl": "Long second metacarpal",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long 2nd long bone of hand",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1861531"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006042",
- "lbl": "Y-shaped metacarpals",
- "meta": {
- "definition": {
- "val": "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Y-shaped long bone of hand",
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- "ORCID:0000-0001-5208-3432"
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- ],
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- {
- "val": "UMLS:C1861373"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006045",
- "lbl": "Short pointed phalanges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short pointed digital bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849740"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006048",
- "lbl": "Distal widening of metacarpals",
- "meta": {
- "definition": {
- "val": "Abnormal increase in width of the distal region of the metacarpal bones.",
- "xrefs": [
- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide outermost end of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865254"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006051",
- "lbl": "Metacarpal periosteal thickening",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834347"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006055",
- "lbl": "Ulnar deviated club hands",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1833881"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006059",
- "lbl": "Cone-shaped metacarpal epiphyses",
- "meta": {
- "definition": {
- "val": "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone-shaped end part of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Metacarpal cone-shaped epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855239"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006060",
- "lbl": "Tombstone-shaped proximal phalanges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tombstone-shaped innermost digital bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862420"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006064",
- "lbl": "Limited interphalangeal movement",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited movement of hinge joints",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840089"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006067",
- "lbl": "Multiple carpal ossification centers",
- "meta": {
- "definition": {
- "val": "A delay in the process of formation and maturation of the epiphysis of one or more long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Multiple carpal ossification centres"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006069",
- "lbl": "obsolete Severe carpal ossification delay",
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- "val": "HP:0001216"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006070",
- "lbl": "Metacarpophalangeal joint contracture",
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005674"
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- ],
- "comments": [
- "In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint."
- ],
- "definition": {
- "val": "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Metacarpal/phalangeal joint contractures"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2677209"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006077",
- "lbl": "Absent proximal finger flexion creases",
- "meta": {
- "definition": {
- "val": "Absence of the proximal interphalangeal flexion creases of the fingers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1850048"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006086",
- "lbl": "Thin metacarpal cortices",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006088",
- "lbl": "1-5 finger complete cutaneous syndactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861357"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006089",
- "lbl": "Palmar hyperhidrosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive sweating of hands",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856953"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006092",
- "lbl": "Malaligned carpal bone",
- "meta": {
- "definition": {
- "val": "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Incorrect alignment of wrist bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856742"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006094",
- "lbl": "Finger joint hypermobility",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased mobility in finger joint",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:298193009"
- },
- {
- "val": "UMLS:C0574974"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006095",
- "lbl": "Wide tufts of distal phalanges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide tips of outermost digital bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835101"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006097",
- "lbl": "3-4 finger syndactyly",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006133"
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- ],
- "definition": {
- "val": "Syndactyly with fusion of fingers three and four.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Webbed 3rd-4th fingers",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial or complete syndactyly 3rd-4th fingers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Webbed 3rd-4th finger"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856889"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006099",
- "lbl": "Metacarpophalangeal joint hyperextensibility",
- "meta": {
- "definition": {
- "val": "Increased mobility of one ore more metacarpophalangeal joint.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025092"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006101",
- "lbl": "Finger syndactyly",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006057"
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- ],
- "definition": {
- "val": "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Partial syndactyly"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249769001"
- },
- {
- "val": "SNOMEDCT_US:268251006"
- },
- {
- "val": "SNOMEDCT_US:34048007"
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- {
- "val": "UMLS:C0221352"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006106",
- "lbl": "Absent trapezoid bone",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1847191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006107",
- "lbl": "Fingerpad telangiectases",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006246"
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- ],
- "definition": {
- "val": "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Small dilated blood vessels in fingerpads",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Finger pad telangiectases"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861248"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006108",
- "lbl": "Tapered metacarpals",
- "meta": {
- "definition": {
- "val": "Metacarpal that becomes thinner toward the distal end.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapered long bones of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025091"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006109",
- "lbl": "Absent phalangeal crease",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006031"
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- ],
- "definition": {
- "val": "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent interphalangeal creases"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Aplasia of the interphalangeal creases"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862479"
- },
- {
- "val": "UMLS:C4020821"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006110",
- "lbl": "Shortening of all middle phalanges of the fingers",
- "meta": {
- "definition": {
- "val": "Short, hypoplastic middle phalanx of finger, affecting all fingers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1856912"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006112",
- "lbl": "Expanded phalanges with widened medullary cavities",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1969287"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006114",
- "lbl": "Multiple palmar creases",
- "meta": {
- "definition": {
- "val": "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple palm lines",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861872"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006118",
- "lbl": "Shortening of all distal phalanges of the fingers",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005658"
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- ],
- "definition": {
- "val": "Hypoplasia of all of the distal phalanx of finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortening of all outermost bones of the fingers",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Brachytelephalangy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021608"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006119",
- "lbl": "Proximal tapering of metacarpals",
- "meta": {
- "definition": {
- "val": "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pointed innermost long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pointed proximal metacarpals",
- "xrefs": [
- "HPO:sdoelken"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854749"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006121",
- "lbl": "Acral ulceration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001226"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001862"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0005040"
- }
- ],
- "definition": {
- "val": "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.",
- "xrefs": [
- "PMID:20862203"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1860099"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006127",
- "lbl": "Long proximal phalanx of finger",
- "meta": {
- "definition": {
- "val": "Increased length of the proximal phalanx of finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long innermost finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025090"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006129",
- "lbl": "Drumstick terminal phalanges",
- "meta": {
- "comments": [
- "This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg)."
- ],
- "definition": {
- "val": "Rounding and broadening of the tufts of the distal phalanges.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Drumstick shaped digital bones",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844822"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006134",
- "lbl": "Enlarged metacarpal epiphyses",
- "meta": {
- "definition": {
- "val": "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlarged end part of long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865035"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006135",
- "lbl": "Decreased finger mobility",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased finger mobility"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased finger movement",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862133"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006136",
- "lbl": "Bilateral postaxial polydactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1855003"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006140",
- "lbl": "Premature fusion of phalangeal epiphyses",
- "meta": {
- "definition": {
- "val": "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature fusion of end part of digital bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855620"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006143",
- "lbl": "Abnormal finger flexion creases",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1859481"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006144",
- "lbl": "Shortening of all proximal phalanges of the fingers",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006021"
- }
- ],
- "definition": {
- "val": "Congenital hypoplasia of proximal phalanx of finger or all fingers.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shortening of all innermost bones of the fingers",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4025089"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006145",
- "lbl": "Central Y-shaped metacarpal",
- "meta": {
- "definition": {
- "val": "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Y-shaped central long bones of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848597"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006146",
- "lbl": "Broad metacarpal epiphyses",
- "meta": {
- "definition": {
- "val": "Increased side-to-side width of the metacarpal epiphyses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad end part of long bone of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025088"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006147",
- "lbl": "Progressive fusion 2nd-5th pip joints",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861310"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006149",
- "lbl": "Increased laxity of fingers",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850855"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006150",
- "lbl": "Swan neck-like deformities of the fingers",
- "meta": {
- "definition": {
- "val": "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1849152"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006152",
- "lbl": "Proximal symphalangism of hands",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006005"
- }
- ],
- "definition": {
- "val": "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fused innermost hinge joints",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Proximal interphalangeal joint synostoses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021607"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006153",
- "lbl": "Disharmonious carpal bone",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Disharmonious wrist bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2675549"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006155",
- "lbl": "Long phalanx of finger",
- "meta": {
- "definition": {
- "val": "Increased length of multiple or a single phalanx of finger.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long finger bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025087"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006156",
- "lbl": "Ulnar deviation of thumb",
- "meta": {
- "definition": {
- "val": "Bending or curvature of a thumb towards the ulnar side (towards the ring finger).",
- "xrefs": [
- "HPO:probinson",
- "PMID:10955488"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Curved thumb deviated towards palm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ulnar deviation of the 1st finger"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:299137000"
- },
- {
- "val": "UMLS:C0575904"
- },
- {
- "val": "UMLS:C4280465"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006157",
- "lbl": "Prominent palmar flexion creases",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent life line",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865131"
- },
- {
- "val": "UMLS:C4280464"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006158",
- "lbl": "obsolete Finger joint hyperextensibility",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006159",
- "lbl": "Mesoaxial hand polydactyly",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001496"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004056"
- }
- ],
- "definition": {
- "val": "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Interdigital finger polydactyly"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Central hand polydactyly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021606"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006160",
- "lbl": "Irregular metacarpals",
- "meta": {
- "definition": {
- "val": "Irregular morphology of one or more metacarpal bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular long bones of hand",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025086"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006161",
- "lbl": "Short metacarpals with rounded proximal ends",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short long bone of hand with rounded innermost ends",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856471"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006162",
- "lbl": "Soft tissue swelling of interphalangeal joints",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Soft tissue swelling of hinge joints",
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- "ORCID:0000-0001-5208-3432"
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- ],
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- {
- "val": "UMLS:C1854913"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006163",
- "lbl": "Enlarged metacarpophalangeal joints",
- "meta": {
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- {
- "val": "UMLS:C1859700"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006165",
- "lbl": "Proportionate shortening of all digits",
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- {
- "pred": "hasExactSynonym",
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- "val": "Proportionate shortening of all digits"
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- ],
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- {
- "val": "UMLS:C1862157"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006166",
- "lbl": "Tubular metacarpal bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cylindrical shaped long bones of hand",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "UMLS:C1859369"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006167",
- "lbl": "Prominent proximal interphalangeal joints",
- "meta": {
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prominent innermost hinge joints",
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- "ORCID:0000-0001-5208-3432"
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- "val": "UMLS:C4025085"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006169",
- "lbl": "Decreased mobility 3rd-5th fingers",
- "meta": {
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased mobility 3rd-5th fingers"
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- "val": "UMLS:C1833882"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006170",
- "lbl": "Chess-pawn distal phalanges",
- "meta": {
- "definition": {
- "val": "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Chess-pawn shaped outermost bone",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1862097"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006172",
- "lbl": "Flattened, squared-off epiphyses of tubular bones",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattened, squared-off end part of tubular bones",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834961"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006174",
- "lbl": "Metacarpal diaphyseal endosteal sclerosis",
- "meta": {
- "definition": {
- "val": "Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1840419"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006175",
- "lbl": "Proximal phalangeal periosteal thickening",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thickening of connective tissue of innermost finger bone",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834348"
- },
- {
- "val": "UMLS:C4280463"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006176",
- "lbl": "Two carpal ossification centers present at birth",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Two carpal ossification centres present at birth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1839285"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006179",
- "lbl": "Pseudoepiphyses of second metacarpal",
- "meta": {
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- {
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- "val": "HP:0010221"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra bone on end of second long bone of hand",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pseudoepiphysis of the 2nd metacarpal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862693"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006180",
- "lbl": "Crowded carpal bones",
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- {
- "pred": "hasBroadSynonym",
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- "val": "Crowded wrist bones",
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- "ORCID:0000-0001-5208-3432"
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- {
- "val": "UMLS:C1863317"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006184",
- "lbl": "Decreased palmar creases",
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- "val": "Poorly defined or shallow palmar creases.",
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- "PMID:19125433"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic palmar creases"
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- {
- "pred": "hasExactSynonym",
- "val": "Poorly formed palmar creases"
- },
- {
- "pred": "hasExactSynonym",
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- "HPO:skoehler"
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- "val": "UMLS:C1857483"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006185",
- "lbl": "Enlarged proximal interphalangeal joints",
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- {
- "pred": "hasExactSynonym",
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- "val": "Enlarged innermost hinge joint",
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- "val": "UMLS:C1861350"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006187",
- "lbl": "obsolete Fusion of midphalangeal joints",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0009773"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006189",
- "lbl": "Prominent interdigital folds",
- "meta": {
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- {
- "val": "UMLS:C1866000"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006190",
- "lbl": "Radially deviated wrists",
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- {
- "val": "UMLS:C1861316"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006191",
- "lbl": "Deep palmar crease",
- "meta": {
- "definition": {
- "val": "Excessively deep creases of the palm.",
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- "PMID:19125433"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Deep palm line",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deep palmar creases"
- }
- ],
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- {
- "val": "UMLS:C1857539"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006192",
- "lbl": "Tapered phalanx of finger",
- "meta": {
- "definition": {
- "val": "Phalanges of the fingers becoming thinner toward the distal end.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Tapered finger bone",
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- "val": "UMLS:C4025084"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006193",
- "lbl": "Thimble-shaped middle phalanges of hand",
- "meta": {
- "definition": {
- "val": "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.",
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- "HPO:probinson"
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- "val": "Thimble-shaped middle bones of hand",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025083"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006200",
- "lbl": "Widened distal phalanges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widened outermost bone of limb",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862421"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006201",
- "lbl": "Hypermobility of distal interphalangeal joints",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased mobility of outermost hinge joint",
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- "ORCID:0000-0001-5208-3432"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1851811"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006202",
- "lbl": "Osteolysis of scaphoids",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025082"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006203",
- "lbl": "Decreased movement range in interphalangeal joints",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased range of movement range in hinge joints",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
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- "val": "UMLS:C1836772"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006205",
- "lbl": "Irregular phalanges",
- "meta": {
- "definition": {
- "val": "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular finger bones",
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- "ORCID:0000-0001-6908-9849"
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- "val": "UMLS:C4025081"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006206",
- "lbl": "Hypersegmentation of proximal phalanx of second finger",
- "meta": {
- "comments": [
- "This anomaly is characteristic for brachydactyly type C."
- ],
- "definition": {
- "val": "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.",
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- },
- "xrefs": [
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- "val": "UMLS:C4025080"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006207",
- "lbl": "Partial fusion of carpals",
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- {
- "val": "UMLS:C1844519"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006208",
- "lbl": "Metaphyseal cupping of proximal phalanges",
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- "definition": {
- "val": "Metaphyseal cupping affecting the proximal phalanges.",
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- "HPO:curators"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006209",
- "lbl": "Partial-complete absence of 5th phalanges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial-complete absence of 5th digital bone",
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- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
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- "val": "UMLS:C1867928"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006210",
- "lbl": "Postaxial oligodactyly",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1867927"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006213",
- "lbl": "Thin proximal phalanges with broad epiphyses of the hand",
- "meta": {
- "comments": [
- "removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal))"
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- "synonyms": [
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasBroadSynonym",
- "val": "Thin proximal phalanges with broad epiphyses"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1862156"
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- {
- "val": "UMLS:C4025079"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006216",
- "lbl": "Single interphalangeal crease of fifth finger",
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- ],
- "definition": {
- "val": "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006217",
- "lbl": "Limited mobility of proximal interphalangeal joint",
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- {
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- }
- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006224",
- "lbl": "Tapering pointed ends of distal finger phalanges",
- "meta": {
- "definition": {
- "val": "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).",
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006226",
- "lbl": "Osteoarthritis of the first carpometacarpal joint",
- "meta": {
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- {
- "val": "UMLS:C0409956"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006228",
- "lbl": "Valgus hand deformity",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006230",
- "lbl": "Unilateral oligodactyly",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C3805861"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006232",
- "lbl": "Expanded metacarpals with widened medullary cavities",
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- "val": "UMLS:C1969288"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006233",
- "lbl": "Osteoarthritis of the distal interphalangeal joint",
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- "val": "SNOMEDCT_US:239869009"
- },
- {
- "val": "UMLS:C0409957"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006234",
- "lbl": "Osteolysis involving tarsal bones",
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- "lbl": "Slender metacarpals",
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- "lbl": "Prominent interphalangeal joints",
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006248",
- "lbl": "Limited wrist movement",
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- "val": "An abnormal limitation of the mobility of the wrist.",
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- "id": "http://purl.obolibrary.org/obo/HP_0006252",
- "lbl": "Interphalangeal joint erosions",
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- "id": "http://purl.obolibrary.org/obo/HP_0006253",
- "lbl": "Swelling of proximal interphalangeal joints",
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- "val": "UMLS:C1860841"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006254",
- "lbl": "Elevated alpha-fetoprotein",
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- "val": "UMLS:C0476489"
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- "id": "http://purl.obolibrary.org/obo/HP_0006256",
- "lbl": "Abnormality of hand joint mobility",
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- "id": "http://purl.obolibrary.org/obo/HP_0006257",
- "lbl": "Abnormality of carpal bone ossification",
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- "id": "http://purl.obolibrary.org/obo/HP_0006261",
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- "id": "http://purl.obolibrary.org/obo/HP_0006262",
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- "id": "http://purl.obolibrary.org/obo/HP_0006263",
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- {
- "val": "MSH:D050500"
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- "val": "SNOMEDCT_US:233870001"
- },
- {
- "val": "SNOMEDCT_US:234689009"
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- {
- "val": "SNOMEDCT_US:235494005"
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- {
- "val": "UMLS:C0149521"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006282",
- "lbl": "Generalized hypoplasia of dental enamel",
- "meta": {
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- "val": "A generalized form of developmental hypoplasia of the dental enamel.",
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- "HPO:ibailleulforestier"
- ]
- },
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- "val": "Generalised hypoplasia of dental enamel"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hypoplasia of tooth enamel"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised dysplasia of tooth enamel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized hypoplasia of tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Generalized dysplasia of tooth enamel",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
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- {
- "val": "UMLS:C4025070"
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- {
- "val": "UMLS:C4280462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006283",
- "lbl": "Multiple unerupted teeth",
- "meta": {
- "definition": {
- "val": "The presence of multiple embedded tooth germs which have failed to erupt.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple unerupted teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple non-erupting teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of eruption of multiple teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
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- {
- "val": "UMLS:C4025069"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006285",
- "lbl": "Enamel hypomineralization",
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- "val": "HP:0006359"
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- ],
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- "Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars)."
- ],
- "definition": {
- "val": "A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.",
- "xrefs": [
- "HPO:probinson",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Poorly mineralized tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased enamel mineralisation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypomineralization of enamel"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Mottled tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Increased porosity of tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Fluorosis of tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "White spot lesions of tooth enamel",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:109487003"
- },
- {
- "val": "UMLS:C3665628"
- },
- {
- "val": "UMLS:C4280253"
- },
- {
- "val": "UMLS:C4280460"
- },
- {
- "val": "UMLS:C4280461"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006286",
- "lbl": "Yellow-brown discoloration of the teeth",
- "meta": {
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Yellow-brown discoloration of the teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Yellow-brown discoloured teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Yellow-brown discolored teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Yellow-brown tooth shade",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863008"
- }
- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006288",
- "lbl": "Advanced eruption of teeth",
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- "val": "HP:0006317"
- }
- ],
- "comments": [
- "There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum."
- ],
- "definition": {
- "val": "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:19125428"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early eruption of teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Advanced tooth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Eruption, advanced"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature eruption of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature tooth eruption"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Advanced dental eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early dental eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature dental eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:16000003"
- },
- {
- "val": "UMLS:C0266054"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006289",
- "lbl": "Agenesis of central incisor",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006320"
- }
- ],
- "definition": {
- "val": "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent central incisor"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent central incisors"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing central incisors"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of central incisor",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855000"
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- {
- "val": "UMLS:C4020819"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006290",
- "lbl": "Discolored lateral incisors",
- "meta": {
- "definition": {
- "val": "The presence of discolored lateral incisors.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of colour of front teeth"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormality of colour of lateral incisor"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Discoloured front teeth"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Discoloured lateral incisors"
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- "val": "Abnormality of color of front teeth",
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- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Discolored front teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Abnormality of color of lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Abnormality of shade of lateral incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866510"
- },
- {
- "val": "UMLS:C4280459"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006291",
- "lbl": "Marked delay in eruption of permanent teeth",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severe delay of eruption of adult teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severe delay of eruption of permanent teeth",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Very late eruption of adult teeth",
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- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Very late eruption of permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863009"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006292",
- "lbl": "Abnormality of dental eruption",
- "meta": {
- "comments": [
- "The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars."
- ],
- "definition": {
- "val": "An abnormality of tooth eruption.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of tooth eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Disturbance of tooth eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal dental eruption"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of dental eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Anomaly of tooth eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Disorder of dental eruption",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Disorder of tooth eruption",
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- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Disturbance of dental eruption",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
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- "xrefs": [
- {
- "val": "SNOMEDCT_US:1086101000119107"
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- "val": "SNOMEDCT_US:234949000"
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- {
- "val": "UMLS:C0012767"
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- {
- "val": "UMLS:C1859363"
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- {
- "val": "UMLS:C3874458"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006293",
- "lbl": "Agenesis of maxillary central incisor",
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- ]
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- "pred": "hasRelatedSynonym",
- "val": "Absence of maxillary central incisor",
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- ]
- },
- {
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- "val": "Missing maxillary central incisor",
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- {
- "val": "UMLS:C4025068"
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- {
- "val": "UMLS:C4280458"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006297",
- "lbl": "Enamel hypoplasia",
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- "comments": [
- "Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue."
- ],
- "definition": {
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- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
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- "val": "Thin dental enamel"
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- "val": "Thin tooth enamel",
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- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Enamel hypotrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enamel, underdeveloped"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of dental enamel"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Enamel dysplasia"
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- {
- "pred": "hasBroadSynonym",
- "val": "Defective enamel matrix",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of tooth enamel",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Dysplasia of tooth enamel",
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- "ORCID:0000-0001-5889-4463"
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- "val": "MSH:D003744"
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- "val": "SNOMEDCT_US:26597004"
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- "val": "SNOMEDCT_US:699382004"
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- "val": "SNOMEDCT_US:699421005"
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- "val": "UMLS:C0011351"
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- {
- "val": "UMLS:C1851854"
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- {
- "val": "UMLS:C4280456"
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- {
- "val": "UMLS:C4280457"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006298",
- "lbl": "Prolonged bleeding after dental extraction",
- "meta": {
- "definition": {
- "val": "Prolonged bleeding post dental extraction sufficient to require medical intervention.",
- "xrefs": [
- "HPO:probinson",
- "WWW:wouwehand"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prolonged bleeding after dental extraction"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006302",
- "lbl": "Dagger-shaped pulp calcifications",
- "meta": {
- "definition": {
- "val": "Dagger-shaped calcifications in the dental pulp.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dagger shaped pulp denticles",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dagger shaped pulp stones",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025067"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006304",
- "lbl": "Widely-spaced incisors",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Gap between front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Anterior diastema of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Diastema between front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Diastema between incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:196409003"
- },
- {
- "val": "UMLS:C0399545"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006308",
- "lbl": "Atrophy of alveolar ridges",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shrinking of gum ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flattening of gum ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Alveolar bone loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrophy of alveolar margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrophy of alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Resorption of alveolar margins",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Resorption of alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Resorption of alveolar ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shrinking of alveolar ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Flattening of alveolar margin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Flattening of alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Flattening of alveolar ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855642"
- },
- {
- "val": "UMLS:C4280454"
- },
- {
- "val": "UMLS:C4280455"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006311",
- "lbl": "Generalized microdontia",
- "meta": {
- "definition": {
- "val": "A generalized form of microdontia.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised microdontia"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of all teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased tooth mass",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of all teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Hypotrophy of all teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Tooth mass insufficiency",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025065"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006313",
- "lbl": "Widely spaced primary teeth",
- "meta": {
- "definition": {
- "val": "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised spacing of primary teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide gaps between baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widely spaced deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized spacing of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide gaps between primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021603"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006315",
- "lbl": "Solitary median maxillary central incisor",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001568"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001573"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006356"
- }
- ],
- "comments": [
- "The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations."
- ],
- "definition": {
- "val": "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.",
- "xrefs": [
- "PMID:19125428"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Only one upper front tooth",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single central incisor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single central upper incisor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single maxillary central incisor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single median incisor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single median maxillary incisor"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single midline maxillary incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Single midline upper front tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Solitary median maxillary central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Solitary midline maxillary central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Solitary median maxillary central incisor syndrome",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537342"
- },
- {
- "val": "SNOMEDCT_US:707609006"
- },
- {
- "val": "UMLS:C1840235"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006316",
- "lbl": "Irregularly spaced teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0009081"
- }
- ],
- "definition": {
- "val": "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregularly spaced teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular dental spacing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Variability of spacing between teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Variability of dental spacing",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1845878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006321",
- "lbl": "Multiple non-erupting secondary teeth",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Failure of eruption of multiple adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of eruption of multiple permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple non-erupting adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple non-erupting permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple unerupted adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Multiple unerupted permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848904"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006323",
- "lbl": "Premature loss of primary teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006319"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006351"
- }
- ],
- "comments": [
- "The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth."
- ],
- "definition": {
- "val": "Loss of the primary (also known as deciduous) teeth before the usual age.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early loss of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature loss of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature deciduous tooth loss"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature loss of deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early loss of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early loss of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Premature exfoliation of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Premature exfoliation of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:122483006"
- },
- {
- "val": "SNOMEDCT_US:39034005"
- },
- {
- "val": "UMLS:C0266052"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006326",
- "lbl": "Buried teeth encased in mucopolysaccharide",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Failure of dental eruption due to mucopolysaccharidoses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of tooth eruption due to mucopolysaccharidoses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impacted teeth due to mucopolysaccharidoses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Unerupted dentition due to mucopolysaccharidoses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Unerupted teeth due to mucopolysaccharidoses",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025064"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006329",
- "lbl": "Alveolar process hypoplasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006312"
- }
- ],
- "comments": [
- "The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla."
- ],
- "definition": {
- "val": "Underdevelopment of the alveolar process (also known as alveolar bone).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of alveolar ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic alveolar bone"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of alveolar process of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of alveolar ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small alveolar process of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small alveolar ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of alveolar process of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of alveolar ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Deficiency of alveolar process of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Deficiency of alveolar ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic alveolar process of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic alveolar ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:708494003"
- },
- {
- "val": "UMLS:C1848905"
- },
- {
- "val": "UMLS:C3872671"
- },
- {
- "val": "UMLS:C4280451"
- },
- {
- "val": "UMLS:C4280452"
- },
- {
- "val": "UMLS:C4280453"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006330",
- "lbl": "Rotated maxillary central incisors",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rotated upper central incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Rotated upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Turned upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Twisted upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025063"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006332",
- "lbl": "Supernumerary maxillary incisor",
- "meta": {
- "definition": {
- "val": "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra upper front tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025062"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006333",
- "lbl": "Crowded maxillary incisors",
- "meta": {
- "definition": {
- "val": "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crowded upper incisors"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crowded upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Overlapped upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Overlapped maxillary incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021602"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006334",
- "lbl": "Hypoplasia of the primary teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006318"
- }
- ],
- "definition": {
- "val": "Developmental hypoplasia of the primary teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdevelopment of primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855694"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006335",
- "lbl": "Persistence of primary teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003772"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006299"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006305"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006341"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006354"
- }
- ],
- "comments": [
- "The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars."
- ],
- "definition": {
- "val": "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Delayed loss of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure to lose baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Retained baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Deciduous teeth retention"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed loss of primary teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistence of deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent primary dentition"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent primary teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retained deciduous teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Delayed loss of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure to exfoliate deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure to exfoliate primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent deciduous dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retained primary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:57650002"
- },
- {
- "val": "UMLS:C0266050"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006336",
- "lbl": "Short dental root",
- "meta": {
- "definition": {
- "val": "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.",
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- "HPO:probinson",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short dental roots"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped dental roots"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped tooth roots",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of dental roots",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased length of tooth roots",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short tooth roots",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dental root hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dental root hypotrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rhizomicry"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Root dwarfism"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2678330"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006337",
- "lbl": "Premature eruption of permanent teeth",
- "meta": {
- "definition": {
- "val": "Premature tooth eruption of the permanent dentition.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early eruption of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early eruption of permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature eruption of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Precocious eruption of secondary dentition"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Precocious eruption of secondary teeth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021601"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006338",
- "lbl": "Malformation of mandibular premolar",
- "meta": {
- "definition": {
- "val": "An abnormality of the morphology of secondary premolar tooth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformation of lower premolar",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformation of mandibular bicuspid",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025061"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006339",
- "lbl": "Conical mandibular incisor",
- "meta": {
- "definition": {
- "val": "An abnormal conical morphology of the primary or permanent mandibular incisors.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Cone shaped lower front tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lower front shark tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Peg shaped lower front tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pointed mandibular incisors"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Conoid mandibular incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Peg shaped mandibular incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pointed mandibular incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020818"
- },
- {
- "val": "UMLS:C4280449"
- },
- {
- "val": "UMLS:C4280450"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006342",
- "lbl": "Peg-shaped maxillary lateral incisors",
- "meta": {
- "comments": [
- "A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately."
- ],
- "definition": {
- "val": "A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Peg-shaped tooth"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Peg laterals",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Peg shaped upper lateral incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Cone shaped upper lateral incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Conical maxillary lateral incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Conoid upper lateral incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pointed upper lateral incisors",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025060"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006344",
- "lbl": "Abnormality of primary molar morphology",
- "meta": {
- "definition": {
- "val": "An abnormality of morphology of primary molar.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of shape of baby molar",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of deciduous molar morphology",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of shape of primary molar",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025059"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006346",
- "lbl": "Screwdriver-shaped incisors",
- "meta": {
- "definition": {
- "val": "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Screwdriver-shaped incisors"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Screwdriver shaped front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025058"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006347",
- "lbl": "Microdontia of primary teeth",
- "meta": {
- "definition": {
- "val": "Decreased size of the primary teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of baby teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased width of milk teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small deciduous teeth"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Decreased size of primary tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased width of primary tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Microdontia of deciduous teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855694"
- },
- {
- "val": "UMLS:C1856203"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006349",
- "lbl": "Agenesis of permanent teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000681"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006287"
- }
- ],
- "definition": {
- "val": "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of development of permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absence of permanent teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent permanent teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of permanent dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Agenesis of secondary dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of secondary teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563203"
- },
- {
- "val": "SNOMEDCT_US:109444001"
- },
- {
- "val": "SNOMEDCT_US:234948008"
- },
- {
- "val": "UMLS:C0457756"
- },
- {
- "val": "UMLS:C1290511"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006350",
- "lbl": "Pulp obliteration",
- "meta": {
- "comments": [
- "The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present."
- ],
- "definition": {
- "val": "Mineralized substance filling the entire dental pulp space.",
- "xrefs": [
- "PMID:162890",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Obliteration of the pulp chamber"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Crescent/chevron-shaped pulp chambers"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulp canal obliteration",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced size of pulp chamber of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small pulp chamber of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Narrowing of pulp chamber of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020817"
- },
- {
- "val": "UMLS:C4025057"
- },
- {
- "val": "UMLS:C4280448"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006352",
- "lbl": "Failure of eruption of permanent teeth",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006309"
- }
- ],
- "definition": {
- "val": "Lack of tooth eruption of the secondary dentition.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unerupted adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unerupted permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Unerupted adult dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Unerupted permanent dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of eruption of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025056"
- },
- {
- "val": "UMLS:C4280447"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006353",
- "lbl": "Hypoplasia of the tooth germ",
- "meta": {
- "definition": {
- "val": "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of tooth bud",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of tooth bud",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small tooth bud",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypoplastic tooth buds"
- },
- {
- "pred": "hasBroadSynonym",
- "val": "Underdevelopment of tooth germ",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of tooth germ",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrophic tooth germ",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small tooth germ",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025055"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006355",
- "lbl": "Agenesis of mandibular central incisor",
- "meta": {
- "definition": {
- "val": "Agenesis of lower secondary incisor or lower primary incisor.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of lower central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing lower central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of mandibular central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Absence of mandibular central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Missing mandibular central incisor",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840225"
- },
- {
- "val": "UMLS:C4025054"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006357",
- "lbl": "Premature loss of permanent teeth",
- "meta": {
- "definition": {
- "val": "Premature loss of the permanent teeth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early loss of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early loss of permanent teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature loss of adult teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Premature loss of secondary teeth"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Early loss of secondary dentition",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1969738"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006358",
- "lbl": "Shovel-shaped maxillary central incisors",
- "meta": {
- "definition": {
- "val": "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.",
- "xrefs": [
- "PMID:2212205",
- "PMID:31468724"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Shovel-shaped upper front teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Shovel tooth"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1833168"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006361",
- "lbl": "Irregular femoral epiphysis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular thighbone end part",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850658"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006362",
- "lbl": "Varus deformity of humeral neck",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1854948"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006366",
- "lbl": "Adductor longus contractures",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1859524"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006367",
- "lbl": "Crumpled long bones",
- "meta": {
- "definition": {
- "val": "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Crumpled long bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1970497"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006368",
- "lbl": "Forearm reduction defects",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849327"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006369",
- "lbl": "Irregular patellae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006458"
- }
- ],
- "definition": {
- "val": "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular patellar contour"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Irregular patellar margins"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836870"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006370",
- "lbl": "Distal ulnar epiphyseal stippling",
- "meta": {
- "definition": {
- "val": "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Distal ulnar epiphyseal calcifications"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021600"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006371",
- "lbl": "Broad long bone diaphyses",
- "meta": {
- "definition": {
- "val": "Increased width of the diaphysis of long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025053"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006375",
- "lbl": "Dumbbell-shaped femur",
- "meta": {
- "definition": {
- "val": "The femur is shortened and displays flaring (widening) of the metaphyses.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dumbbell-shaped thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025052"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006376",
- "lbl": "Limited elbow flexion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1856922"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006378",
- "lbl": "Osteolysis of patellae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025051"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006379",
- "lbl": "Proximal tibial hypoplasia",
- "meta": {
- "comments": [
- "Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia'"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Proximal tibial hypopolasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856029"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006380",
- "lbl": "Knee flexion contracture",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0002978"
- }
- ],
- "definition": {
- "val": "A bent (flexed) knee joint that cannot be straightened actively or passively.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to straighten knee",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Contractures of knees"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Contractures of the knees"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flexion contracture of knees"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flexion contractures of knees"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flexion deformity of the knee"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Knee contracture"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Knee contractures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Knee flexion contractures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Knee flexion deformity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flexion contractures at both knees",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:202289003"
- },
- {
- "val": "UMLS:C0409355"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006381",
- "lbl": "Rudimentary fibula",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0004986"
- }
- ],
- "definition": {
- "val": "Absent or nearly absent fibula. (Does not include aplastic)"
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small to absent calf bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Rudimentary to absent fibulae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small to absent fibula"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844706"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006383",
- "lbl": "Progressive bowing of long bones",
- "meta": {
- "definition": {
- "val": "Progressive bending or abnormal curvature of a long bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1857137"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006384",
- "lbl": "Club-shaped distal femur",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006447"
- }
- ],
- "comments": [
- "previous def: 'has part' some \n(clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Club-shaped outermost end of thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Club-shaped distal femora"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857505"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006385",
- "lbl": "Short lower limbs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0003054"
- }
- ],
- "definition": {
- "val": "Shortening of the legs related to developmental hypoplasia of the bones of the leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short legs"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short lower limbs"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249786007"
- },
- {
- "val": "UMLS:C0426901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006386",
- "lbl": "Hypoplastic distal radial epiphyses",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the distal epiphysis of the radius.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1969286"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006387",
- "lbl": "Wide distal femoral metaphysis",
- "meta": {
- "definition": {
- "val": "Increased width of the distal part of the shaft (metaphysis) of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad outermost wide portion of thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide distal metaphysis of femur"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849309"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006389",
- "lbl": "Limited knee flexion",
- "meta": {
- "definition": {
- "val": "Reduced ability to flex (bend) the knee joint."
- },
- "xrefs": [
- {
- "val": "UMLS:C1839512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006390",
- "lbl": "Anterior tibial bowing",
- "meta": {
- "definition": {
- "val": "An abnormal anterior bending or curvature of the tibia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Anterior bowing of tibia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861937"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006391",
- "lbl": "Overtubulated long bones",
- "meta": {
- "definition": {
- "val": "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1848769"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006392",
- "lbl": "Increased density of long bones",
- "meta": {
- "definition": {
- "val": "An abnormal increase in the bone density of the long bones.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased density of long bones"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849307"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006394",
- "lbl": "Limited pronation/supination of forearm",
- "meta": {
- "definition": {
- "val": "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited pronation/supination of forearm"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861331"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006397",
- "lbl": "Lateral displacement of patellae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1860156"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006398",
- "lbl": "Flat distal femoral epiphysis",
- "meta": {
- "definition": {
- "val": "An abnormal flattening of the distal epiphysis of femur.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flat end part of outermost thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Flattened distal femoral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021599"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006400",
- "lbl": "Absent knee epiphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent knee end part",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006402",
- "lbl": "Distal shortening of limbs",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short outer part of limbs",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1840307"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006406",
- "lbl": "Club-shaped proximal femur",
- "meta": {
- "comments": [
- "previous def: 'has part' some \n(clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal))"
- ],
- "definition": {
- "val": "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Club-shaped innermost end of thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968611"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006407",
- "lbl": "Irregular distal femoral epiphysis",
- "meta": {
- "definition": {
- "val": "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular outermost thighbone end part",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025050"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006408",
- "lbl": "Distal tapering femur",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tapering of outermost end of thighbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025049"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006409",
- "lbl": "Progressive leg bowing",
- "meta": {
- "definition": {
- "val": "Progressive bending or abnormal curvature of the leg.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1855191"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006413",
- "lbl": "Broad tibial metaphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad wide portion of shankbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad wide portion of shinbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2678328"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006414",
- "lbl": "Distal tibial bowing",
- "meta": {
- "definition": {
- "val": "A bending or abnormal curvature of the distal portion of the tibia.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bowing of the distal tibia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tibial bowing at ankle"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021598"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006415",
- "lbl": "Cortically dense long tubular bones",
- "meta": {
- "comments": [
- "Note that compact bone and cortical bone are synonymous."
- ],
- "definition": {
- "val": "Increased density of the compact bone of long bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1849276"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006417",
- "lbl": "Broad femoral metaphyses",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Broad wide portion of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1864854"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006420",
- "lbl": "Asymmetric radial dysplasia",
- "meta": {
- "definition": {
- "val": "The presence of asymmetric developmental dysplasia of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1969396"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006423",
- "lbl": "Peg-like central prominence of distal tibial metaphyses",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1846160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006424",
- "lbl": "Elongated radius",
- "meta": {
- "definition": {
- "val": "Increased length of the radius.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025048"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006426",
- "lbl": "Rudimentary to absent tibiae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968943"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006429",
- "lbl": "Broad femoral neck",
- "meta": {
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- "val": "HP:0003372"
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- "val": "HP:0008836"
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- ],
- "definition": {
- "val": "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Broadening of femoral neck"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide femoral neck"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Widened femoral necks"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Wide neck of thigh bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- "xrefs": [
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- "val": "UMLS:C1849016"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006431",
- "lbl": "Proximal femoral metaphyseal abnormality",
- "meta": {
- "definition": {
- "val": "An anomaly of the metaphysis of the proximal femur (close to the hip).",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal wide portion of innermost thighbone",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025047"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006432",
- "lbl": "Trapezoidal distal femoral condyles",
- "meta": {
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- "val": "UMLS:C1843983"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006433",
- "lbl": "Radial dysplasia",
- "meta": {
- "definition": {
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- "PMID:29257019"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dysplastic radii",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Radial longitudinal deficiency",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4025046"
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- ]
- },
- "type": "CLASS"
- },
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- "id": "http://purl.obolibrary.org/obo/HP_0006434",
- "lbl": "Hypoplasia of proximal radius",
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- "val": "HP:0006365"
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- ],
- "definition": {
- "val": "Proximal radial shortening owing to a congenital defect of development.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Proximal radial shortening"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1859477"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006436",
- "lbl": "obsolete Shortening of the tibia",
- "meta": {
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006437",
- "lbl": "Disproportionate prominence of the femoral medial condyle",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834392"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006438",
- "lbl": "Enlargement of the distal femoral epiphysis",
- "meta": {
- "definition": {
- "val": "An abnormal enlargement of the distal epiphysis of the femur.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Enlargement of the outermost thighbone end part",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Large distal femoral epiphyses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1843105"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006439",
- "lbl": "Radioulnar dislocation",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0003972"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dislocated radioulnar joints"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2673394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006440",
- "lbl": "Increased density of long bone diaphyses",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased density of shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844516"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006441",
- "lbl": "Lateral humeral condyle aplasia",
- "meta": {
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- {
- "val": "UMLS:C1833878"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006442",
- "lbl": "Hypoplasia of proximal fibula",
- "meta": {
- "definition": {
- "val": "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.",
- "xrefs": [
- "PMID:880750"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small innermost upper end of calf bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped innermost upper end of calf bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859478"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006443",
- "lbl": "Patellar aplasia",
- "meta": {
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- "val": "Absence of the patella.",
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- "val": "Absent kneecap",
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- "ORCID:0000-0001-6908-9849"
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- {
- "pred": "hasExactSynonym",
- "val": "Absent patella"
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- {
- "pred": "hasExactSynonym",
- "val": "Absent patellae"
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- {
- "pred": "hasExactSynonym",
- "val": "Absent patellas"
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- {
- "pred": "hasExactSynonym",
- "val": "Aplastic patellae"
- }
- ],
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- "val": "UMLS:C1868578"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006446",
- "lbl": "Dysplastic patella",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006449",
- "lbl": "Distal radial epiphyseal osteolysis",
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- {
- "val": "UMLS:C1850145"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006450",
- "lbl": "Multicentric ossification of proximal femoral epiphyses",
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- {
- "val": "UMLS:C1857193"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006453",
- "lbl": "Lateral displacement of the femoral head",
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- "val": "A developmental anomaly with lateral displacement of the femoral head.",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasExactSynonym",
- "val": "Laterally displaced femoral heads"
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- "val": "UMLS:C1855758"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006454",
- "lbl": "Delayed patellar ossification",
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- "The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496)."
- ],
- "definition": {
- "val": "Formation of bone in the patella later than normal.",
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- "HPO:probinson",
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- "synonyms": [
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- "val": "Delayed bone maturation of the knee cap",
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Delayed patellae ossification"
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- ],
- "xrefs": [
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- "val": "UMLS:C4021597"
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- "val": "UMLS:C4280446"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006456",
- "lbl": "Irregular proximal tibial epiphyses",
- "meta": {
- "definition": {
- "val": "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular innermost shankbone end part",
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- "ORCID:0000-0001-5208-3432"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Irregular innermost shinbone end part",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
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- {
- "val": "UMLS:C4025045"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006459",
- "lbl": "Dorsal subluxation of ulna",
- "meta": {
- "definition": {
- "val": "Partial dislocation of the ulna in the dorsal direction.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1851988"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006460",
- "lbl": "Increased laxity of ankles",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850854"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006461",
- "lbl": "Proximal femoral epiphysiolysis",
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- "definition": {
- "val": "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
- {
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- "val": "Slipped end part of innermost thighbone",
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- "ORCID:0000-0001-5208-3432"
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- "pred": "hasExactSynonym",
- "val": "Slipped capital femoral epiphyses"
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- {
- "pred": "hasExactSynonym",
- "val": "Slipped capital femoral epiphysis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D060048"
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- {
- "val": "UMLS:C0149887"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006462",
- "lbl": "Generalized bone demineralization",
- "meta": {
- "comments": [
- "The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future."
- ],
- "definition": {
- "val": "A generalized decrease in bone mineral density.",
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- "HPO:curators"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Generalised bone demineralization"
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- "val": "UMLS:C1833326"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006463",
- "lbl": "Rickets of the lower limbs",
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- {
- "val": "UMLS:C1833323"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006465",
- "lbl": "Periosteal thickening of long tubular bones",
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- "definition": {
- "val": "Thickening of the periosteum of long bone.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1834345"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006466",
- "lbl": "Ankle flexion contracture",
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- "val": "HP:0006403"
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- ],
- "definition": {
- "val": "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.",
- "xrefs": [
- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Ankle contracture"
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- {
- "pred": "hasExactSynonym",
- "val": "Ankle contractures"
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- {
- "pred": "hasExactSynonym",
- "val": "Contractures of the ankles"
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- ],
- "xrefs": [
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- "val": "UMLS:C1837407"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006467",
- "lbl": "Limited shoulder movement",
- "meta": {
- "definition": {
- "val": "A limitation of the range of movement of the shoulder joint.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Limited shoulder movement"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1851313"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006470",
- "lbl": "Thin long bone diaphyses",
- "meta": {
- "definition": {
- "val": "Decreased width of the diaphysis of long bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin shaft of long bone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Thin diaphyses of long bones"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1859449"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006471",
- "lbl": "Fixed elbow flexion",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025044"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006473",
- "lbl": "Anterior bowing of long bones",
- "meta": {
- "definition": {
- "val": "An abnormal anterior curvature of a long bone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1850644"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006476",
- "lbl": "Abnormality of the pancreatic islet cells",
- "meta": {
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- "val": "2008-03-28T04:41:00Z"
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- "val": "HP:0100567"
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- ],
- "definition": {
- "val": "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.",
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- "HPO:probinson"
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- "xrefs": [
- {
- "val": "UMLS:C4025043"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006477",
- "lbl": "Abnormality of the alveolar ridges",
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- "val": "2008-03-28T04:44:00Z"
- }
- ],
- "definition": {
- "val": "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of gum ridge",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Defect in alveolar ridge"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of alveolar margin",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of dentoalveolar ridges",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of alveolar processes of jaw",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:235013007"
- },
- {
- "val": "UMLS:C0341007"
- },
- {
- "val": "UMLS:C4280445"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006479",
- "lbl": "Abnormal dental pulp morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
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- "val": "2008-03-28T04:46:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the dental pulp.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the dental pulp"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of tooth pulp",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Endodontic abnormality",
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- "val": "UMLS:C4025042"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006480",
- "lbl": "Premature loss of teeth",
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- "val": "2008-03-28T05:03:00Z"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000701"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001564"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006343"
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- ],
- "definition": {
- "val": "Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.",
- "xrefs": [
- "HPO:ibailleulforestier",
- "PMID:31468724"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Early tooth loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature teeth loss"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Premature tooth loss"
- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Premature exfoliation of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:234974002"
- },
- {
- "val": "SNOMEDCT_US:42756003"
- },
- {
- "val": "UMLS:C0232513"
- },
- {
- "val": "UMLS:C0399385"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006481",
- "lbl": "Abnormality of primary teeth",
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- ],
- "comments": [
- "Primary teeth are also called temporary teeth or deciduous teeth."
- ],
- "definition": {
- "val": "Any abnormality of the primary tooth.",
- "xrefs": [
- "HPO:ibailleulforestier"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of baby teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of milk teeth",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of deciduous teeth"
- }
- ],
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- {
- "val": "UMLS:C4021596"
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- ]
- },
- "type": "CLASS"
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- {
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- "lbl": "Abnormality of dental morphology",
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- "HPO:ibailleulforestier"
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- },
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormally shaped teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformed teeth"
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- {
- "pred": "hasExactSynonym",
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- "val": "Misshapen teeth"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Misshapened teeth"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental deformity",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dental malformations",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of shape of tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Malformation of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014071"
- },
- {
- "val": "SNOMEDCT_US:422775003"
- },
- {
- "val": "UMLS:C0040427"
- },
- {
- "val": "UMLS:C0262444"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006483",
- "lbl": "Abnormal number of teeth",
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- "val": "2008-03-28T05:44:00Z"
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- ],
- "comments": [
- "Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth."
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- "definition": {
- "val": "The presence of an altered number of of teeth.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Abnormal number of teeth"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal tooth count",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal complement of teeth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- "xrefs": [
- {
- "val": "SNOMEDCT_US:335443002"
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- {
- "val": "UMLS:C1290508"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006485",
- "lbl": "Agenesis of incisor",
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- "val": "2008-03-28T05:49:00Z"
- }
- ],
- "comments": [
- "Failure of one or more incisors to develop."
- ],
- "definition": {
- "val": "Agenesis of incisor.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of incisors"
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- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing incisors"
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absence of front tooth",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing front tooth",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Failure of development of incisor",
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- "ORCID:0000-0001-5889-4463"
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- "xrefs": [
- {
- "val": "UMLS:C4020815"
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- {
- "val": "UMLS:C4020816"
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- {
- "val": "UMLS:C4083290"
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- ]
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006486",
- "lbl": "Abnormal dental root morphology",
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- "val": "2008-03-28T05:52:00Z"
- }
- ],
- "definition": {
- "val": "An abnormality of the dental root.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the dental root"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of tooth root",
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- "ORCID:0000-0001-5889-4463"
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- {
- "pred": "hasExactSynonym",
- "val": "Dental root anomaly"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025041"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006487",
- "lbl": "Bowing of the long bones",
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- "val": "HP:0002976"
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- "val": "HP:0005087"
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- "val": "HP:0005908"
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- "val": "HP:0006404"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006451"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006452"
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- ],
- "comments": [
- "Curvatures of a long bone such as femur, tibia, or fibula."
- ],
- "definition": {
- "val": "A bending or abnormal curvature of a long bone.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowed long bones"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowing of long bones"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bowing of the long bones"
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- {
- "pred": "hasExactSynonym",
- "val": "Camptomelia"
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- {
- "pred": "hasExactSynonym",
- "val": "Diaphyseal bowing"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Diaphyseal bowing of long bones"
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- "xrefs": [
- {
- "val": "UMLS:C1855340"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006488",
- "lbl": "Bowing of the arm",
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- "val": "2008-03-28T05:57:00Z"
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- "definition": {
- "val": "A bending or abnormal curvature affecting a long bone of the arm.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Bowing of the arm"
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- {
- "pred": "hasExactSynonym",
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- "val": "Bending of the arm",
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- {
- "val": "UMLS:C0426863"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006489",
- "lbl": "Abnormal femoral metaphysis morphology",
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- "val": "2008-03-28T06:02:00Z"
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- ],
- "definition": {
- "val": "An anomaly of the femoral metaphysis.",
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- "HPO:probinson"
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of the wide portion of the femoral bone",
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the femoral metaphysis"
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- "val": "UMLS:C4025040"
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- "val": "UMLS:C4280444"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006490",
- "lbl": "Abnormal lower-limb metaphysis morphology",
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- "pred": "hasExactSynonym",
- "val": "Abnormality of lower-limb metaphyses"
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- "val": "UMLS:C4025039"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006491",
- "lbl": "Abnormal tibial metaphysis morphology",
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- "pred": "hasBroadSynonym",
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- "val": "Abnormality of the wide portion of shinbone",
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the tibial metaphysis"
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- "xrefs": [
- {
- "val": "UMLS:C4025038"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006492",
- "lbl": "Aplasia/Hypoplasia of the fibula",
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- "definition": {
- "val": "Absence or underdevelopment of the fibula.",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small calf bone",
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- {
- "pred": "hasExactSynonym",
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- "val": "Absent/underdeveloped calf bone",
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- {
- "pred": "hasExactSynonym",
- "val": "Fibular aplasia/hypoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic/aplastic fibulae"
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- "xrefs": [
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- "type": "CLASS"
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- {
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- "lbl": "Aplasia/Hypoplasia involving bones of the feet",
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped kneecap",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent or hypoplastic patellae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/hypoplastic patella"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Aplastic or hypoplastic patellae"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic or absent patella"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Patellar aplasia/hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small to absent patellae"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C535568"
- },
- {
- "val": "UMLS:C1868577"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006499",
- "lbl": "Abnormality of femoral epiphysis",
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- "val": "HP:0006412"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008811"
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- ],
- "definition": {
- "val": "An anomaly of a growth plate of a femur.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of thighbone end part",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025034"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006500",
- "lbl": "Abnormality of lower limb epiphysis morphology",
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- "val": "2008-03-28T06:31:00Z"
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- ],
- "definition": {
- "val": "An anomaly of one or more epiphyses of one or both legs."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality involving the epiphyses of the lower limbs"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4021595"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006501",
- "lbl": "Aplasia/Hypoplasia of the radius",
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- "val": "2008-03-28T06:32:00Z"
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- "val": "HP:0005718"
- }
- ],
- "definition": {
- "val": "A small/hypoplastic or absent/aplastic radius.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence or underdevelopment of the radius bone of the arm"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Radial aplasia/hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/small radius",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/underdeveloped radius",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2749463"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006502",
- "lbl": "Aplasia/Hypoplasia involving the carpal bones",
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- "val": "2008-03-28T06:35:00Z"
- }
- ],
- "definition": {
- "val": "Absence or underdevelopment of the carpal bones.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small wrist bones",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
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- "val": "Absent/underdeveloped wrist bones",
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- }
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- {
- "val": "UMLS:C4025033"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006503",
- "lbl": "Aplasia/hypoplasia involving forearm bones",
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- "val": "2008-03-28T06:45:00Z"
- }
- ],
- "definition": {
- "val": "Absence (due to failure to form) or underdevelopment of one or more forearm bones.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small forearm bones",
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- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped forearm bones",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "UMLS:C4025032"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006504",
- "lbl": "obsolete Anomaly of the limb diaphyses morphology",
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- "val": "2008-03-28T06:47:00Z"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of shaft of long bone of the limbs",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006505",
- "lbl": "Abnormal limb epiphysis morphology",
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- "val": "2008-03-28T06:48:00Z"
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- "comments": [
- "An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk."
- ],
- "definition": {
- "val": "An anomaly of one or more epiphyses of a limb."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality involving the epiphyses of the limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of limb epiphysis morphology"
- }
- ],
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- {
- "val": "UMLS:C4021593"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006507",
- "lbl": "Aplasia/hypoplasia of the humerus",
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- "val": "2008-03-29T09:15:00Z"
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- ],
- "definition": {
- "val": "Absence (due to failure to form) or underdevelopment of the humerus.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/small long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped long bone in upper arm",
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- "ORCID:0000-0001-5208-3432"
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- {
- "val": "UMLS:C4025031"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006508",
- "lbl": "Abnormality of tibial epiphyses",
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- "val": "2008-03-29T09:19:00Z"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of end part of shinbone",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025030"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006509",
- "lbl": "Diverticulosis of trachea",
- "meta": {
- "definition": {
- "val": "Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).",
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- "PMID:18544671",
- "PMID:27867581"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Tracheal diverticulosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tracheocele"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Paratracheal air cyst"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Tracheal diverticulum",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "http://radiopaedia.org/articles/tracheal-diverticulum"
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- }
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- "xrefs": [
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- "val": "SNOMEDCT_US:14011008"
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- {
- "val": "UMLS:C0340213"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006510",
- "lbl": "Chronic pulmonary obstruction",
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- "comments": [
- "COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases."
- ],
- "definition": {
- "val": "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.",
- "xrefs": [
- "PMID:25943942"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "COPD"
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- {
- "pred": "hasExactSynonym",
- "val": "Chronic obstructive pulmonary disease"
- }
- ],
- "xrefs": [
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- "val": "MSH:D029424"
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- "val": "SNOMEDCT_US:13645005"
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- "val": "UMLS:C0024117"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006511",
- "lbl": "Laryngeal stridor",
- "meta": {
- "comments": [
- "The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids."
- ],
- "definition": {
- "val": "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.",
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- "val": "MSH:D007826"
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- "val": "UMLS:C0023066"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006514",
- "lbl": "Intraalveolar nodular calcifications",
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- "xrefs": [
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- "val": "UMLS:C4025028"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006515",
- "lbl": "Interstitial pneumonitis",
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- "xrefs": [
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- "val": "MSH:D017563"
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- "val": "SNOMEDCT_US:64667001"
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- "val": "UMLS:C0206061"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006516",
- "lbl": "Hypersensitivity pneumonitis",
- "meta": {
- "comments": [
- "Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen."
- ],
- "definition": {
- "val": "Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).",
- "xrefs": [
- "LMU:mgriese",
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- "PMID:18051218"
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- "val": "MSH:D000542"
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- "val": "SNOMEDCT_US:37471005"
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- {
- "val": "UMLS:C0002390"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006517",
- "lbl": "Intraalveolar phospholipid accumulation",
- "meta": {
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- "comments": [
- "The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP)."
- ],
- "definition": {
- "val": "Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.",
- "xrefs": [
- "HPO:probinson",
- "PMID:21900000",
- "PMID:22891182"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Alveolar proteinosis"
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- {
- "pred": "hasExactSynonym",
- "val": "Detection of PAS-positive extracellular material in broncho-alveolar lavage"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary alveolar proteinosis"
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- ],
- "xrefs": [
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- "val": "MSH:D011649"
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- {
- "val": "SNOMEDCT_US:10501004"
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- "val": "UMLS:C0034050"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006518",
- "lbl": "Pulmonary venous occlusion",
- "meta": {
- "comments": [
- "This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough."
- ],
- "definition": {
- "val": "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.",
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- "HPO:probinson",
- "NIHR:ldaugherty",
- "PMID:20456932",
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- {
- "pred": "hasExactSynonym",
- "val": "Pulmonary venous stenosis"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Pulmonary venoocclusive disease"
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- ],
- "xrefs": [
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- "val": "Fyler:3002"
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- "val": "MSH:D011668"
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- },
- {
- "val": "UMLS:C0034091"
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- "val": "UMLS:C4280802"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006519",
- "lbl": "Alveolar cell carcinoma",
- "meta": {
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- "val": "HP:0006757"
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- "definition": {
- "val": "Adenocarcinoma of the Bronchus.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D002282"
- },
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- "val": "SNOMEDCT_US:112677002"
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- "val": "SNOMEDCT_US:36310008"
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- {
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006520",
- "lbl": "Progressive pulmonary function impairment",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849570"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006521",
- "lbl": "Pulmonary lymphangiectasia",
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- "val": "HP:0006551"
- }
- ],
- "definition": {
- "val": "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.",
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- "val": "Pulmonary lymphangiectasis"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006522",
- "lbl": "Repeated pneumothoraces",
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- {
- "pred": "hasExactSynonym",
- "val": "Repeated pneumothorax",
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- "ORCID:0000-0001-6908-9849"
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- "val": "UMLS:C4025027"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006524",
- "lbl": "Tracheobronchial leiomyomatosis",
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- {
- "val": "UMLS:C3806786"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006525",
- "lbl": "obsolete Lung segmentation defects",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006527",
- "lbl": "Lymphocytic interstitial pneumonia",
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- "Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath."
- ],
- "definition": {
- "val": "Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.",
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- "pred": "hasExactSynonym",
- "val": "Lymphoid interstitial pneumonia"
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- {
- "pred": "hasExactSynonym",
- "val": "Lymphoid interstitial pneumonitis"
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- ],
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- "val": "MSH:C562489"
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- "val": "SNOMEDCT_US:44274007"
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- "val": "UMLS:C0264511"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006528",
- "lbl": "Chronic lung disease",
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- "val": "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.",
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- "val": "UMLS:C0746102"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006529",
- "lbl": "Abnormal pulmonary lymphatics",
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- "definition": {
- "val": "An abnormality of the pulmonary lymphatic chain.",
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- "HPO:probinson"
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- },
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- {
- "val": "UMLS:C4025026"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006530",
- "lbl": "Abnormal pulmonary interstitial morphology",
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- "definition": {
- "val": "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.",
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- "pred": "hasExactSynonym",
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- "val": "Interstitial lung disease"
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- "pred": "hasExactSynonym",
- "val": "Interstitial pulmonary disease"
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- "val": "MSH:D017563"
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- "val": "UMLS:C0206062"
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- "id": "http://purl.obolibrary.org/obo/HP_0006531",
- "lbl": "Pleural lymphangiectasia",
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- "val": "UMLS:C1856139"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006532",
- "lbl": "Recurrent pneumonia",
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- "Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences."
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- "val": "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.",
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- "val": "Multiple pulmonary infections"
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- "pred": "hasExactSynonym",
- "val": "Pneumonia, recurrent episodes"
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- "pred": "hasExactSynonym",
- "val": "Pulmonary infection"
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- "pred": "hasExactSynonym",
- "val": "Pulmonary infections"
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Pneumonia, recurrent",
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- "val": "UMLS:C0748140"
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- "val": "UMLS:C0876973"
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- "val": "UMLS:C1859117"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006533",
- "lbl": "Bronchodysplasia",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006535",
- "lbl": "Recurrent intrapulmonary hemorrhage",
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- "val": "A recurrent hemorrhage occurring within the lung.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006536",
- "lbl": "Airway obstruction",
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- "val": "Obstruction of conducting airways of the lung.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Pulmonary obstruction"
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- "val": "MSH:D008173"
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- "val": "UMLS:C0600260"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006538",
- "lbl": "Recurrent bronchopulmonary infections",
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- "definition": {
- "val": "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.",
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- "HPO:probinson"
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- "val": "UMLS:C2169795"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006539",
- "lbl": "Bronchial cartilage hypoplasia",
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- "val": "Underdevelopment of the bronical cartilage",
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- "val": "UMLS:C4025024"
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- "id": "http://purl.obolibrary.org/obo/HP_0006541",
- "lbl": "obsolete Chronic obstructive airway disease from birth",
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- "lbl": "Cardiorespiratory arrest",
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006544",
- "lbl": "Extrapulmonary sequestrum",
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- "comments": [
- "Extrapulmonary sequestra nearly all appear on the left side."
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- "val": "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.",
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- "val": "UMLS:C4020814"
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- "val": "UMLS:C4025023"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006548",
- "lbl": "Pulmonary arteriovenous malformation",
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- "val": "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.",
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- "lbl": "Unilateral primary pulmonary dysgenesis",
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- "type": "CLASS"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006554",
- "lbl": "Acute hepatic failure",
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- "definition": {
- "val": "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.",
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- "lbl": "Diffuse hepatic steatosis",
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- "val": "A diffuse form of hepatic steatosis.",
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- "lbl": "Hepatic calcification",
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- "lbl": "Biliary hyperplasia",
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- "lbl": "Viral hepatitis",
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- "lbl": "Fluctuating hepatomegaly",
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- "val": "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.",
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- "lbl": "Neonatal cholestatic liver disease",
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- "lbl": "Increased hepatic glycogen content",
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- "definition": {
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006571",
- "lbl": "Reduced number of intrahepatic bile ducts",
- "meta": {
- "definition": {
- "val": "The presence of reduced numbers of intrahepatic bile duct than normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hepatic ductopenia"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Intrahepatic duct deficiency"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861621"
- },
- {
- "val": "UMLS:C4021591"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006572",
- "lbl": "Subacute progressive viral hepatitis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006573",
- "lbl": "Acute hepatic steatosis",
- "meta": {
- "definition": {
- "val": "An acute form of hepatic steatosis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Acute fatty liver",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025020"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006574",
- "lbl": "Hepatic arteriovenous malformation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006569"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Liver arteriovenous malformation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:84150000"
- },
- {
- "val": "UMLS:C0520557"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006575",
- "lbl": "Intrahepatic cholestasis with episodic jaundice",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4025019"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006576",
- "lbl": "Hepatic vascular malformations",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Liver vascular malformations",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006577",
- "lbl": "Macronodular cirrhosis",
- "meta": {
- "comments": [
- "In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm."
- ],
- "definition": {
- "val": "A type of cirrhosis characterized by the presence of large regenerative nodules.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:43904005"
- },
- {
- "val": "SNOMEDCT_US:86454000"
- },
- {
- "val": "UMLS:C2004456"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006579",
- "lbl": "Prolonged neonatal jaundice",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000986"
- }
- ],
- "definition": {
- "val": "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prolonged yellowing of skin in newborn",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Neonatal jaundice"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Jaundice, neonatal",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D007567"
- },
- {
- "val": "SNOMEDCT_US:387712008"
- },
- {
- "val": "UMLS:C0022353"
- },
- {
- "val": "UMLS:C1859236"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006580",
- "lbl": "Portal fibrosis",
- "meta": {
- "comments": [
- "Portal fibrosis can be seen in viral hepatitis and other types of liver disease."
- ],
- "definition": {
- "val": "Fibroblast proliferation and fiber expansion from the portal areas to the lobule.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Portal fibrosis shown on biopsy",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2677002"
- },
- {
- "val": "UMLS:C3805083"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006581",
- "lbl": "Depletion of mitochondrial DNA in liver",
- "meta": {
- "definition": {
- "val": "An abnormal reduction in the number of mitochondria in hepatocytes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4025018"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006582",
- "lbl": "Reye syndrome-like episodes",
- "meta": {
- "comments": [
- "This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]."
- ],
- "definition": {
- "val": "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure."
- },
- "xrefs": [
- {
- "val": "UMLS:C1850413"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006583",
- "lbl": "Fatal liver failure in infancy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fatal liver failure in infancy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025017"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006584",
- "lbl": "Small abnormally formed scapulae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006629"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small abnormally formed shoulder blade",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Small abnormally formed scapula"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861226"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006585",
- "lbl": "Congenital pseudoarthrosis of the clavicle",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006612"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006661"
- }
- ],
- "comments": [
- "In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature."
- ],
- "definition": {
- "val": "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.",
- "xrefs": [
- "HPO:probinson",
- "PMID:22295044"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Clavicle pseudoarthrosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pseudoarthrosis of clavicle"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Bipartite clavicle"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:249685004"
- },
- {
- "val": "SNOMEDCT_US:249690001"
- },
- {
- "val": "UMLS:C0426806"
- },
- {
- "val": "UMLS:C0426811"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006587",
- "lbl": "Straight clavicles",
- "meta": {
- "definition": {
- "val": "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Straight collarbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025016"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006589",
- "lbl": "Flaring of lower rib cage",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flaring of lower rib cage"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855196"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006590",
- "lbl": "Premature sternal synostosis",
- "meta": {
- "definition": {
- "val": "Prematurely closed sternal sutures.",
- "xrefs": [
- "HPO:probinson",
- "PMID:13542801"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Prematurely closed sternal sutures"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021590"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006591",
- "lbl": "Absent glenoid fossa",
- "meta": {
- "definition": {
- "val": "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Aplasia of the glenoid fossa"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021589"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006593",
- "lbl": "Anomalous rib insertion to vertebrae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861704"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006595",
- "lbl": "Scapulohumeral synostosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0010792"
- }
- ],
- "definition": {
- "val": "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fusion of shoulder blade to long bone in upper arm",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Humero-scapulo synostosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Humeroscapular synostosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Synostosis of shoulder joint"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865362"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006596",
- "lbl": "Restricted chest movement",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Restricted chest movement"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4025015"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006597",
- "lbl": "Diaphragmatic paralysis",
- "meta": {
- "comments": [
- "Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue."
- ],
- "definition": {
- "val": "The presence of a paralyzed diaphragm.",
- "xrefs": [
- "HPO:probinson",
- "PMID:3612666"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Diaphragmatic paralysis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Paralysed diaphragm"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Paralyzed diaphragm",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012133"
- },
- {
- "val": "SNOMEDCT_US:64228003"
- },
- {
- "val": "UMLS:C0035232"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006598",
- "lbl": "Irregular ossification at anterior rib ends",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850083"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006599",
- "lbl": "Medial widening of clavicles",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1866729"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006600",
- "lbl": "Progressive calcification of costochondral cartilage",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1968577"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006603",
- "lbl": "Flared, irregular rib ends",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Flared, irregular rib ends"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1865833"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006606",
- "lbl": "Irregular chondrocostal junctions",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0006658"
- }
- ],
- "comments": [
- "The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum."
- ],
- "definition": {
- "val": "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Irregular costochondral margins"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1861199"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006607",
- "lbl": "Precocious costochondral ossification",
- "meta": {
- "comments": [
- "The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients."
- ],
- "definition": {
- "val": "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.",
- "xrefs": [
- "HPO:probinson",
- "PMID:10489169"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1849049"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006608",
- "lbl": "Midclavicular hypoplasia",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the middle portion of the clavicle.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped middle portion of the collarbone",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844530"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006610",
- "lbl": "Wide intermamillary distance",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0000779"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001554"
- }
- ],
- "definition": {
- "val": "A larger than usual distance between the left and right nipple.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wide-spaced nipples"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely spaced nipples"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Widely-spaced nipples"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:423230008"
- },
- {
- "val": "UMLS:C1827524"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006611",
- "lbl": "Decreased number of sternal ossification centers",
- "meta": {
- "definition": {
- "val": "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.",
- "xrefs": [
- "HPO:probinson",
- "PMID:10204210"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Decreased number of sternal ossification centres"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856223"
- }
- ]
- },
- "type": "CLASS"
- },
- {
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- "id": "http://purl.obolibrary.org/obo/HP_0006625",
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- "val": "UMLS:C2986662"
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- "lbl": "Multiple rib fractures",
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- "lbl": "Coat hanger sign of ribs",
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- "lbl": "Paroxysmal atrial tachycardia",
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- ],
- "definition": {
- "val": "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.",
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- "lbl": "Coronary artery dissection",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006758",
- "lbl": "Malignant genitourinary tract tumor",
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- "definition": {
- "val": "The presence of a malignant neoplasm of the genital system.",
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- },
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- "pred": "hasExactSynonym",
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- "val": "Malignant GU tract tumour"
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- {
- "pred": "hasExactSynonym",
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- "val": "Malignant genitourinary tract tumour"
- }
- ],
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- "val": "UMLS:C1834728"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006762",
- "lbl": "Renal pelvic carcinoma",
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- "val": "The presence of a carcinoma in the renal pelvis.",
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- "HPO:probinson"
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- },
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- "val": "NCIT:C2916"
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- {
- "val": "UMLS:C4024983"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006763",
- "lbl": "Anal canal squamous carcinoma",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024982"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006765",
- "lbl": "Chondrosarcoma",
- "meta": {
- "definition": {
- "val": "A slowly growing malignant neoplasm derived from cartilage cells.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D002813"
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- {
- "val": "NCIT:C2946"
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- {
- "val": "SNOMEDCT_US:14990007"
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- {
- "val": "SNOMEDCT_US:443520009"
- },
- {
- "val": "UMLS:C0008479"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006766",
- "lbl": "Papillary renal cell carcinoma",
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- "definition": {
- "val": "The presence of renal cell carcinoma in the renal papilla.",
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- },
- "xrefs": [
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- "val": "MSH:D002292"
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- "val": "NCIT:C2916"
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- "val": "UMLS:C1306837"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006767",
- "lbl": "Pituitary prolactin cell adenoma",
- "meta": {
- "definition": {
- "val": "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.",
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- "DDD:spark"
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- "val": "Pituitary prolactinoma"
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- {
- "pred": "hasExactSynonym",
- "val": "Prolactin-secreting pituitary adenoma"
- }
- ],
- "xrefs": [
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- "val": "MSH:D015175"
- },
- {
- "val": "SNOMEDCT_US:134209002"
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- {
- "val": "SNOMEDCT_US:34337008"
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- {
- "val": "UMLS:C0033375"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006768",
- "lbl": "Localized neuroblastoma",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Localised neuroblastoma"
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- ],
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- {
- "val": "UMLS:C4024981"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006769",
- "lbl": "Myxoid subcutaneous tumors",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Myxoid subcutaneous tumours"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834421"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006770",
- "lbl": "Clear cell renal cell carcinoma",
- "meta": {
- "definition": {
- "val": "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.",
- "xrefs": [
- "DDD:rscott"
- ]
- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Nonpapillary renal cell carcinoma"
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- ],
- "xrefs": [
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- "val": "MSH:D002292"
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- {
- "val": "SNOMEDCT_US:188251003"
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- {
- "val": "SNOMEDCT_US:254915003"
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- {
- "val": "SNOMEDCT_US:41607009"
- },
- {
- "val": "UMLS:C0279702"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006771",
- "lbl": "Duodenal adenocarcinoma",
- "meta": {
- "definition": {
- "val": "A malignant epithelial tumor with a glandular organization that originates in the duodenum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Duodenal cancer",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
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- "val": "MSH:D004379"
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- {
- "val": "NCIT:C2852"
- },
- {
- "val": "SNOMEDCT_US:254570009"
- },
- {
- "val": "SNOMEDCT_US:408644002"
- },
- {
- "val": "UMLS:C0278804"
- },
- {
- "val": "UMLS:C0541912"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006772",
- "lbl": "Renal angiomyolipoma",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0100873"
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- ],
- "comments": [
- "Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements."
- ],
- "definition": {
- "val": "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.",
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- "pred": "hasExactSynonym",
- "val": "Angiomyolipoma"
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- {
- "pred": "hasExactSynonym",
- "val": "Kidney angiomyolipoma",
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- "xrefs": [
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- "val": "NCIT:C3734"
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- "val": "SNOMEDCT_US:254921004"
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- "val": "UMLS:C0241961"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006773",
- "lbl": "Cutaneous angiolipomas",
- "meta": {
- "xrefs": [
- {
- "val": "NCIT:C3733"
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- {
- "val": "UMLS:C4024980"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006774",
- "lbl": "Ovarian papillary adenocarcinoma",
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- "definition": {
- "val": "The presence of a papillary adenocarcinoma of the ovary.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "NCIT:C2853"
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- {
- "val": "UMLS:C4024979"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006775",
- "lbl": "Multiple myeloma",
- "meta": {
- "definition": {
- "val": "A malignant plasma cell tumor growing within soft tissue or within the skeleton.",
- "xrefs": [
- "HPO:sdoelken"
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- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Plasmocytoma"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Kahler's disease",
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- "ORCID:0000-0001-6908-9849"
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- ],
- "xrefs": [
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- "val": "MSH:D009101"
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- {
- "val": "MSH:D010954"
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- {
- "val": "SNOMEDCT_US:10639003"
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- {
- "val": "SNOMEDCT_US:109989006"
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- {
- "val": "SNOMEDCT_US:415112005"
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- {
- "val": "SNOMEDCT_US:55921005"
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- {
- "val": "UMLS:C0026764"
- },
- {
- "val": "UMLS:C0032131"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006778",
- "lbl": "Benign genitourinary tract neoplasm",
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- "definition": {
- "val": "A non-malignant neoplasm of the genitourinary system.",
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- "val": "Benign GU tract neoplasm"
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- "val": "Benign genitourinary tract tumour"
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- "pred": "hasExactSynonym",
- "val": "Benign genitourinary tract tumor"
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- ],
- "xrefs": [
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- "val": "UMLS:C3804991"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006779",
- "lbl": "Alveolar rhabdomyosarcoma",
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- "xrefs": [
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- "val": "MSH:D018232"
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- {
- "val": "NCIT:C3749"
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- {
- "val": "SNOMEDCT_US:404053004"
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- "val": "SNOMEDCT_US:63449009"
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- {
- "val": "UMLS:C0206655"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006780",
- "lbl": "Parathyroid carcinoma",
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- "definition": {
- "val": "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.",
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- "val": "Parathyroid Cancer"
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- ],
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- "val": "MSH:D010282"
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- "val": "NCIT:C2916"
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- "val": "SNOMEDCT_US:255037004"
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- {
- "val": "SNOMEDCT_US:363481002"
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- {
- "val": "UMLS:C0687150"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006781",
- "lbl": "Hurthle cell thyroid adenoma",
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- "comments": [
- "Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells."
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- "definition": {
- "val": "A kind of thyroid adenoma characterized by the presence of oxyphil cells.",
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- "HPO:probinson"
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- {
- "val": "UMLS:C1336750"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006782",
- "lbl": "Malignant eosinophil proliferation",
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- "xrefs": [
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- "val": "MSH:C565054"
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- {
- "val": "UMLS:C1851585"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006783",
- "lbl": "Posterior pharyngeal cleft",
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- "xrefs": [
- {
- "val": "UMLS:C1848389"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006784",
- "lbl": "Paranasal sinus hypoplasia",
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- "definition": {
- "val": "Underdevelopment of the paranasal sinuses.",
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- "HPO:probinson"
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- },
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- "pred": "hasBroadSynonym",
- "val": "Small paranasal sinus",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased size of paranasal sinus",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasExactSynonym",
- "val": "Decreased volume of paranasal sinus",
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- "ORCID:0000-0001-5889-4463"
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- },
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- "pred": "hasExactSynonym",
- "val": "Underdevelopment of paranasal sinus",
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- "ORCID:0000-0001-5889-4463"
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- "pred": "hasNarrowSynonym",
- "val": "Decreased growth of paranasal sinus",
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- "pred": "hasNarrowSynonym",
- "val": "Decreased pneumatization of paranasal sinus",
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- },
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- "pred": "hasRelatedSynonym",
- "val": "Atelectasis of paranasal sinus",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic paranasal sinus",
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- "val": "UMLS:C2749161"
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- "val": "UMLS:C4280256"
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- {
- "val": "UMLS:C4280441"
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- "val": "UMLS:C4280442"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006785",
- "lbl": "Limb-girdle muscular dystrophy",
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- "val": "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006789",
- "lbl": "Mitochondrial encephalopathy",
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- "id": "http://purl.obolibrary.org/obo/HP_0006790",
- "lbl": "Cerebral cortex with spongiform changes",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006794",
- "lbl": "Loss of ability to walk in first decade",
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- "val": "UMLS:C1846133"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006799",
- "lbl": "Basal ganglia cysts",
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- "pred": "hasExactSynonym",
- "val": "Cystic lesions in the basal ganglia"
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- "val": "UMLS:C1837251"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006801",
- "lbl": "Hyperactive deep tendon reflexes",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006802",
- "lbl": "Abnormal anterior horn cell morphology",
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- "definition": {
- "val": "Any anomaly of the anterior horn cell.",
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- "pred": "hasExactSynonym",
- "val": "Anomaly of the anterior horn cells"
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- "pred": "hasExactSynonym",
- "val": "Anterior horn cell disease"
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- "val": "SNOMEDCT_US:85672005"
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- "val": "UMLS:C0154681"
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- "val": "UMLS:C4020812"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006803",
- "lbl": "Vivid hallucinations",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006808",
- "lbl": "Cerebral hypomyelination",
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- "definition": {
- "val": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.",
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- "HPO:probinson"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006812",
- "lbl": "White mater abnormalities in the posterior periventricular region",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006813",
- "lbl": "Focal hemiclonic seizure",
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- "comments": [
- "A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures."
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- "definition": {
- "val": "A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset."
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- "val": "Unilateral clonic seizures"
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- "val": "Hemiclonic seizure"
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- {
- "pred": "hasExactSynonym",
- "val": "Unilateral clonic seizure"
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- ],
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- "val": "UMLS:C1846620"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006817",
- "lbl": "Aplasia/Hypoplasia of the cerebellar vermis",
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- "definition": {
- "val": "Absence or underdevelopment of the vermis of cerebellum.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Hypo/aplastic vermis"
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- "pred": "hasRelatedSynonym",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006818",
- "lbl": "4-layered lissencephaly",
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- "definition": {
- "val": "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.",
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- "val": "Four-layered lissencephaly"
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- {
- "pred": "hasExactSynonym",
- "val": "Lissencephaly, type I"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type 1 lissencephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type I lissencephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Classic lissencephaly",
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- "val": "UMLS:C0431375"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006821",
- "lbl": "Frontal polymicrogyria",
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- "definition": {
- "val": "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.",
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- "COST:neuromig",
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- "pred": "hasExactSynonym",
- "val": "Polymicrogyria, anterior to posterior gradient"
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- "val": "UMLS:C1847356"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006824",
- "lbl": "Cranial nerve paralysis",
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- "val": "HP:0002377"
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- "pred": "hasExactSynonym",
- "val": "Cranial nerve palsy"
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- "pred": "hasExactSynonym",
- "val": "Cranial nerve paresis"
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- "val": "MSH:D003389"
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- "val": "UMLS:C0151311"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006825",
- "lbl": "Pallor of dorsal columns of the spinal cord",
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- "definition": {
- "val": "An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination."
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- "val": "UMLS:C1865416"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006827",
- "lbl": "Atrophy of the spinal cord",
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- "val": "Degeneration of the spinal cord",
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- "ORCID:0000-0001-5208-3432"
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- "val": "UMLS:C1389102"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006829",
- "lbl": "Severe muscular hypotonia",
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- "definition": {
- "val": "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.",
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- },
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Severely decreased muscle tone",
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- "ORCID:0000-0002-6548-5200"
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- "pred": "hasExactSynonym",
- "val": "Hypotonia, severe"
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- "val": "UMLS:C1839630"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0006830",
- "lbl": "obsolete Severe neonatal hypotonia in males",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006834",
- "lbl": "Developmental stagnation at onset of seizures",
- "meta": {
- "definition": {
- "val": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C1836829"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006837",
- "lbl": "Congenital Horner syndrome",
- "meta": {
- "definition": {
- "val": "A type of Horner syndrome with congenital onset.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "MSH:C564178"
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- "val": "UMLS:C1840475"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006844",
- "lbl": "Absent patellar reflexes",
- "meta": {
- "definition": {
- "val": "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Absent knee jerk reflex",
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- "ORCID:0000-0001-6908-9849"
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- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:274817009"
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- {
- "val": "UMLS:C0558844"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006846",
- "lbl": "Acute encephalopathy",
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- "xrefs": [
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- "val": "SNOMEDCT_US:2776000"
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- {
- "val": "UMLS:C1306587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006849",
- "lbl": "Hypodysplasia of the corpus callosum",
- "meta": {
- "definition": {
- "val": "Developmental defect characterized by a small and malformed corpus callosum."
- },
- "xrefs": [
- {
- "val": "UMLS:C1850348"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006850",
- "lbl": "Hypoplasia of the ventral pons",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the ventral portion of the pons.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped ventral pons",
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- "ORCID:0000-0001-6908-9849"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C1843507"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006851",
- "lbl": "Symmetric spinal nerve root neurofibromas",
- "meta": {
- "definition": {
- "val": "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Spinal nerve root neurofibromas, symmetric, multiple"
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- ],
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- {
- "val": "UMLS:C1834236"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006852",
- "lbl": "Episodic generalized hypotonia",
- "meta": {
- "definition": {
- "val": "The occurrence of repeated episodes of generalized muscular hypotonia.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Episodic generalised hypotonia"
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- "val": "UMLS:C4024976"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006855",
- "lbl": "Cerebellar vermis atrophy",
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- "val": "HP:0007312"
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- ],
- "comments": [
- "This sign can be visualized with brain MRI."
- ],
- "definition": {
- "val": "Wasting (atrophy) of the vermis of cerebellum.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Atrophy of cerebellar vermis"
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- {
- "pred": "hasExactSynonym",
- "val": "Atrophy of the cerebellar vermis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vermian atrophy"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C0742028"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006858",
- "lbl": "Impaired distal proprioception",
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- "val": "HP:0007148"
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- ],
- "definition": {
- "val": "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Distal sensory loss of proprioception"
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- ],
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- "val": "UMLS:C4021585"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006859",
- "lbl": "Posterior leukoencephalopathy",
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- "val": "UMLS:C4024975"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006863",
- "lbl": "Severe expressive language delay",
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- "definition": {
- "val": "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.",
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- "DDD:hvfirth"
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- "val": "UMLS:C1851085"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006865",
- "lbl": "Sensorimotor polyneuropathy affecting arms more than legs",
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- {
- "val": "UMLS:C4024974"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006866",
- "lbl": "Midline central nervous system lipomas",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Midline CNS lipomas"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006870",
- "lbl": "Lobar holoprosencephaly",
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- "definition": {
- "val": "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.",
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- "gc:hpe"
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- "val": "MSH:D016142"
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- "val": "SNOMEDCT_US:253136007"
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- "val": "UMLS:C0431362"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006872",
- "lbl": "Cerebral hypoplasia",
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- ],
- "definition": {
- "val": "Underdevelopment of the cerebrum.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006873",
- "lbl": "Symmetrical progressive peripheral demyelination",
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- "definition": {
- "val": "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006877",
- "lbl": "obsolete Mental retardation, in some",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006879",
- "lbl": "Pontocerebellar atrophy",
- "meta": {
- "definition": {
- "val": "Atrophy affecting the pons and the cerebellum.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebellopontine atrophy"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006880",
- "lbl": "Cerebellar hemangioblastoma",
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- ],
- "definition": {
- "val": "A hemangioblastoma of the cerebellum.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hemangioblastoma, sporadic cerebellar"
- }
- ],
- "xrefs": [
- {
- "val": "NCIT:C3801"
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- "val": "UMLS:C1332900"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006881",
- "lbl": "Diffuse peripheral demyelination",
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- "definition": {
- "val": "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.",
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- "HPO:probinson"
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- },
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006882",
- "lbl": "Severe hydrocephalus",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006886",
- "lbl": "Impaired distal vibration sensation",
- "meta": {
- "definition": {
- "val": "A decrease in the ability to perceive vibration in the distal portions of the limbs.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- },
- "type": "CLASS"
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- "lbl": "Intellectual disability, progressive",
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- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006888",
- "lbl": "Meningoencephalocele",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:52330001"
- },
- {
- "val": "UMLS:C0266456"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006889",
- "lbl": "Intellectual disability, borderline",
- "meta": {
- "comments": [
- "We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification."
- ],
- "definition": {
- "val": "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.",
- "xrefs": [
- "HPO:probinson",
- "PMID:20537050"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Intellectual disability, borderline"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Mental retardation, borderline"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:77287004"
- },
- {
- "val": "UMLS:C0006009"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006891",
- "lbl": "Thick cerebral cortex",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024970"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006892",
- "lbl": "Frontotemporal cerebral atrophy",
- "meta": {
- "definition": {
- "val": "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral atrophy, frontotemporal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021584"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006893",
- "lbl": "obsolete Severely dysplastic cerebellum",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007033"
- }
- ],
- "comments": [
- "Use Cerebellar dysplasia (HP:0007033) with the modifier Severe."
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006894",
- "lbl": "Hypoplastic olfactory lobes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1859231"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006895",
- "lbl": "Lower limb hypertonia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1845245"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006896",
- "lbl": "Hypnopompic hallucinations",
- "meta": {
- "definition": {
- "val": "Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.",
- "xrefs": [
- "PMID:27358492"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D006212"
- },
- {
- "val": "SNOMEDCT_US:69690008"
- },
- {
- "val": "UMLS:C0424082"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006897",
- "lbl": "Abducens palsy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0011349"
- }
- ],
- "comments": [
- "Affected individuals may experience diplopia as well as esotropia or convergent strabismus."
- ],
- "definition": {
- "val": "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.",
- "xrefs": [
- "PMID:29489275"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cranial nerve VI palsy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Sixth nerve palsy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abducens nerve palsy",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abducens nerve paralysis",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abducens nerve paresis",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lateral rectus muscle denervation paresis",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C564661"
- },
- {
- "val": "MSH:D020434"
- },
- {
- "val": "SNOMEDCT_US:398760006"
- },
- {
- "val": "SNOMEDCT_US:398925009"
- },
- {
- "val": "SNOMEDCT_US:398963001"
- },
- {
- "val": "UMLS:C0271355"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006899",
- "lbl": "Fusion of the cerebellar hemispheres",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1866131"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006901",
- "lbl": "obsolete Impaired thermal sensitivity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0010829"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006903",
- "lbl": "Congenital peripheral neuropathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024967"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006904",
- "lbl": "Late-onset spinocerebellar degeneration",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1856604"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006906",
- "lbl": "Congenital intracerebral calcification",
- "meta": {
- "definition": {
- "val": "The presence of calcium deposition within brain structures that is present already at the time of birth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024966"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006913",
- "lbl": "Frontal cortical atrophy",
- "meta": {
- "definition": {
- "val": "Atrophy of the frontal cortex.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Frontal cortex degeneration",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024965"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006915",
- "lbl": "Inability to walk by childhood/adolescence",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Inability to walk by childhood/adolescence"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859200"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006916",
- "lbl": "Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material",
- "meta": {
- "definition": {
- "val": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Intraaxonal accumulation of curvilinear profiles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1832339"
- },
- {
- "val": "UMLS:C4024964"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006918",
- "lbl": "Diffuse cerebral sclerosis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D002549"
- },
- {
- "val": "SNOMEDCT_US:49692006"
- },
- {
- "val": "UMLS:C0007795"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006919",
- "lbl": "Abnormal aggressive, impulsive or violent behavior",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Aggressive/violent behavior"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Aggressive/violent behaviour"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Abnormal aggressive, impulsive or violent behaviour"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024963"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006921",
- "lbl": "Axial muscle stiffness",
- "meta": {
- "definition": {
- "val": "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024962"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006926",
- "lbl": "Metachromatic leukodystrophy variant",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007079"
- }
- ],
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- "val": "UMLS:C4024961"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006927",
- "lbl": "Unilateral polymicrogyria",
- "meta": {
- "definition": {
- "val": "Excessive number of small gyri (convolutions) on the surface of one side of the brain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:715905006"
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- {
- "val": "UMLS:C4024960"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006929",
- "lbl": "Hypoglycemic encephalopathy",
- "meta": {
- "definition": {
- "val": "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:64624009"
- },
- {
- "val": "UMLS:C0149877"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006930",
- "lbl": "Frontoparietal cortical dysplasia",
- "meta": {
- "definition": {
- "val": "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024959"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006931",
- "lbl": "Pericallosal lipoma",
- "meta": {
- "definition": {
- "val": "Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.",
- "xrefs": [
- "ORCID:0000-0002-3302-4610",
- "PMID:30104143"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Lipoma of corpus callosum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1333160"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006932",
- "lbl": "Transient psychotic episodes",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024958"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006934",
- "lbl": "Congenital nystagmus",
- "meta": {
- "definition": {
- "val": "Nystagmus dating from or present at birth.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Nystagmus, congenital",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020417"
- },
- {
- "val": "SNOMEDCT_US:64635004"
- },
- {
- "val": "UMLS:C0700501"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006937",
- "lbl": "Impaired distal tactile sensation",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0006981"
- }
- ],
- "definition": {
- "val": "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased touch sensation in extremities",
- "xrefs": [
- "orcid.org/0000-0002-6548-5200"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased distal touch sense"
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- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006938",
- "lbl": "Impaired vibration sensation at ankles",
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- ],
- "definition": {
- "val": "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased vibration sense in feet"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Impaired vibration sensation at ankles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854372"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006943",
- "lbl": "Diffuse spongiform leukoencephalopathy",
- "meta": {
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006944",
- "lbl": "Abolished vibration sense",
- "meta": {
- "definition": {
- "val": "A complete loss of the ability to perceive vibration.",
- "xrefs": [
- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Apallesthesia"
- }
- ],
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006946",
- "lbl": "Recurrent meningitis",
- "meta": {
- "definition": {
- "val": "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006949",
- "lbl": "Episodic peripheral neuropathy",
- "meta": {
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006951",
- "lbl": "Retrocerebellar cyst",
- "meta": {
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006955",
- "lbl": "Olivopontocerebellar hypoplasia",
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- ],
- "definition": {
- "val": "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.",
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- "HPO:probinson"
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- },
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- {
- "val": "UMLS:C1859341"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006956",
- "lbl": "Lateral ventricle dilatation",
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- "val": "HP:0006945"
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- "val": "HP:0007173"
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- ],
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Dilatation of lateral cerebral ventricles"
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- {
- "pred": "hasExactSynonym",
- "val": "Dilation of lateral ventricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Enlarged lateral ventricles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lateral ventricle dilatation"
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- ],
- "xrefs": [
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006957",
- "lbl": "obsolete Loss of ability to walk",
- "meta": {
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0006958",
- "lbl": "Abnormal auditory evoked potentials",
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- "val": "HP:0004462"
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- "val": "HP:0006923"
- }
- ],
- "comments": [
- "Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea."
- ],
- "definition": {
- "val": "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.",
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- "HPO:probinson"
- ]
- },
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormal brainstem auditory-evoked potentials"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:102971006"
- },
- {
- "val": "UMLS:C0522216"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006959",
- "lbl": "Proximal spinal muscular atrophy",
- "meta": {
- "definition": {
- "val": "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.",
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- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024957"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006960",
- "lbl": "Choroid plexus calcification",
- "meta": {
- "definition": {
- "val": "The presence of calcium deposition in the choroid plexus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Calcified choroid plexus"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863184"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006961",
- "lbl": "Jerky head movements",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Head jerking"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Jerking head movements"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1855568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006962",
- "lbl": "Gait instability, worse in the dark",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unstable walking, worse in the dark",
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837016"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006964",
- "lbl": "Cerebral cortical neurodegeneration",
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- "xrefs": [
- {
- "val": "UMLS:C1859863"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006965",
- "lbl": "Acute necrotizing encephalopathy",
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- {
- "val": "UMLS:C1855020"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006970",
- "lbl": "Periventricular leukomalacia",
- "meta": {
- "comments": [
- "Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter."
- ],
- "definition": {
- "val": "Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.",
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- },
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- "val": "PVL"
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- ],
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- "val": "MSH:D007969"
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- {
- "val": "SNOMEDCT_US:230769007"
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- {
- "val": "UMLS:C0023529"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006976",
- "lbl": "Necrotizing encephalopathy",
- "meta": {
- "comments": [
- "The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted."
- ],
- "definition": {
- "val": "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.",
- "xrefs": [
- "KI:phemming",
- "PMID:23705127"
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- },
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- "val": "UMLS:C1396481"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006977",
- "lbl": "Grammar-specific speech disorder",
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Grammar-specific speech disorder"
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- ],
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- "val": "UMLS:C4024956"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006978",
- "lbl": "Dysmyelinating leukodystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3278204"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006979",
- "lbl": "Sleep-wake cycle disturbance",
- "meta": {
- "definition": {
- "val": "Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sleep-wake cycle disturbance"
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- ],
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- "val": "UMLS:C1833362"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006980",
- "lbl": "Progressive leukoencephalopathy",
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- "definition": {
- "val": "Leukoencephalopathy that gets more severe with time.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Leukoencephalopathy, progressive"
- }
- ],
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- "val": "UMLS:C1855010"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006983",
- "lbl": "obsolete Slowly progressive spastic quadriparesis",
- "meta": {
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- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0002510"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006984",
- "lbl": "obsolete Distal sensory loss of all modalities",
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- "val": "HP:0003409"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006986",
- "lbl": "Upper limb spasticity",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Uncontrollable movement in upper arms",
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- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:394680009"
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- {
- "val": "UMLS:C1273957"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006988",
- "lbl": "Alobar holoprosencephaly",
- "meta": {
- "definition": {
- "val": "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.",
- "xrefs": [
- "gc:hpe"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D016142"
- },
- {
- "val": "SNOMEDCT_US:253137003"
- },
- {
- "val": "UMLS:C0431363"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006989",
- "lbl": "Dysplastic corpus callosum",
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- "definition": {
- "val": "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.",
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- },
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- "pred": "hasExactSynonym",
- "val": "Dysgenesis of corpus callosum"
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- "pred": "hasExactSynonym",
- "val": "Dysplasia of corpus callosum"
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- ],
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- "val": "UMLS:C0431369"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006990",
- "lbl": "Myelin-dependent gliosis",
- "meta": {
- "definition": {
- "val": "A type of gliosis that occurs in the vicinity of injured neurons.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024954"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006992",
- "lbl": "Anterior basal encephalocele",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C1850961"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006994",
- "lbl": "Diffuse leukoencephalopathy",
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- {
- "val": "UMLS:C1868514"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0006999",
- "lbl": "Basal ganglia gliosis",
- "meta": {
- "comments": [
- "Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue."
- ],
- "definition": {
- "val": "Focal proliferation of glial cells in the basal ganglia.",
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- "HPO:probinson"
- ]
- },
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- "pred": "hasExactSynonym",
- "val": "Gliosis in the basal ganglia"
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- ],
- "xrefs": [
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- "val": "UMLS:C1864114"
- },
- {
- "val": "UMLS:C2750915"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007000",
- "lbl": "Morning myoclonic jerks",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1847164"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007001",
- "lbl": "Loss of Purkinje cells in the cerebellar vermis",
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- "xrefs": [
- {
- "val": "UMLS:C1849146"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007002",
- "lbl": "Motor axonal neuropathy",
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- "comments": [
- "Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available."
- ],
- "definition": {
- "val": "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.",
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- "pred": "hasRelatedSynonym",
- "val": "Distal motor neuropathy"
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- "pred": "hasRelatedSynonym",
- "val": "Length dependent motor neuropathy"
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- ],
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- "val": "UMLS:C1854570"
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- {
- "val": "UMLS:C2749625"
- },
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- "val": "UMLS:C4020811"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007006",
- "lbl": "Dorsal column degeneration",
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- "xrefs": [
- {
- "val": "UMLS:C4024953"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007007",
- "lbl": "Cavitation of the basal ganglia",
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- "comments": [
- "This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images."
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- "definition": {
- "val": "The formation of small cavities in the tissue of the basal ganglia.",
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- "HPO:probinson",
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- },
- "xrefs": [
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- "val": "UMLS:C4024952"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007009",
- "lbl": "Central nervous system degeneration",
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "CNS degeneration"
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- "val": "UMLS:C3277687"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007010",
- "lbl": "Poor fine motor coordination",
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- "definition": {
- "val": "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes."
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Fine motor impairment"
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- "pred": "hasExactSynonym",
- "val": "Fine motor skill dysfunction"
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- "pred": "hasExactSynonym",
- "val": "Impaired fine motor skills"
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- "val": "UMLS:C1867864"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007011",
- "lbl": "Fourth cranial nerve palsy",
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- "comments": [
- "The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit."
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- "definition": {
- "val": "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.",
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- "ORCID:0000-0001-5208-3432"
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- "val": "MSH:D020432"
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- "val": "SNOMEDCT_US:20610004"
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- "val": "UMLS:C0271375"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007015",
- "lbl": "Poor gross motor coordination",
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- "definition": {
- "val": "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts."
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- "id": "http://purl.obolibrary.org/obo/HP_0007016",
- "lbl": "Corticospinal tract hypoplasia",
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007017",
- "lbl": "Progressive forgetfulness",
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- "pred": "hasBroadSynonym",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007018",
- "lbl": "Attention deficit hyperactivity disorder",
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- "id": "http://purl.obolibrary.org/obo/HP_0007023",
- "lbl": "Antenatal intracerebral hemorrhage",
- "meta": {
- "definition": {
- "val": "Cerebral hemorrhage that occurs before birth.",
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- "HPO:probinson"
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- },
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- "pred": "hasExactSynonym",
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- "val": "Antenatal intracerebral haemorrhage"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007024",
- "lbl": "Pseudobulbar paralysis",
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- "val": "HP:0006819"
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- "definition": {
- "val": "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007027",
- "lbl": "Poorly formed metencephalon",
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- "The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain."
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- "val": "A morphological abnormality of the metencephalon.",
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- "val": "UMLS:C4024951"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007029",
- "lbl": "Cerebral berry aneurysm",
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- "Saccular aneurysms are often said to have a berry-shaped appearance, whence the name."
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- "definition": {
- "val": "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.",
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- "val": "Cerebral saccular aneurysm"
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- "type": "CLASS"
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- "lbl": "Nonprogressive encephalopathy",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007033",
- "lbl": "Cerebellar dysplasia",
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- "comments": [
- "Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations."
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- "definition": {
- "val": "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007034",
- "lbl": "Generalized hyperreflexia",
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- "val": "UMLS:C4024949"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007035",
- "lbl": "Anterior encephalocele",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C4024948"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007036",
- "lbl": "Hypoplasia of olfactory tract",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Underdeveloped olfactory tract",
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- "ORCID:0000-0001-5208-3432"
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- "val": "UMLS:C1856655"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007039",
- "lbl": "Symmetric lesions of the basal ganglia",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007041",
- "lbl": "Chronic lymphocytic meningitis",
- "meta": {
- "definition": {
- "val": "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).",
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- "PMID:27608867"
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- },
- "xrefs": [
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- "val": "SNOMEDCT_US:230154004"
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- "val": "UMLS:C0393441"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007042",
- "lbl": "Focal white matter lesions",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007045",
- "lbl": "Midline brain calcifications",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007047",
- "lbl": "Atrophy of the dentate nucleus",
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- "val": "Partial or complete wasting (loss) of dentate nucleus.",
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- "val": "UMLS:C1857788"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007048",
- "lbl": "Large basal ganglia",
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- "definition": {
- "val": "Increased size of the basal ganglia.",
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- },
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- "val": "UMLS:C1859470"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007052",
- "lbl": "Multifocal cerebral white matter abnormalities",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007054",
- "lbl": "Proximal hyperreflexia",
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- "definition": {
- "val": "Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee)."
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Hyperreflexia proximally"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007057",
- "lbl": "Poor hand-eye coordination",
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007058",
- "lbl": "Generalized cerebral atrophy/hypoplasia",
- "meta": {
- "definition": {
- "val": "Generalized atrophy or hypoplasia of the cerebrum.",
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- "val": "Generalised cerebral degeneration/underdevelopment"
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- "val": "Generalized cerebral degeneration/underdevelopment",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007063",
- "lbl": "Aplasia of the inferior half of the cerebellar vermis",
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- "val": "Absent inferior half of the cerebellar vermis",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007064",
- "lbl": "Progressive language deterioration",
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- "definition": {
- "val": "Progressive loss of previously present language abilities.",
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- },
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- "val": "UMLS:C1843793"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007065",
- "lbl": "Disorganization of the anterior cerebellar vermis",
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- ],
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007066",
- "lbl": "Proximal limb muscle stiffness",
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- "comments": [
- "Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb"
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- "definition": {
- "val": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007067",
- "lbl": "Distal peripheral sensory neuropathy",
- "meta": {
- "definition": {
- "val": "Peripheral sensory neuropathy affecting primarily distal sensation.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "UMLS:C4021582"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007068",
- "lbl": "Inferior cerebellar vermis hypoplasia",
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Inferior vermis hypoplasia"
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- "xrefs": [
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- "val": "UMLS:C1855350"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007069",
- "lbl": "Profound static encephalopathy",
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- "val": "UMLS:C4024944"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007074",
- "lbl": "Thick corpus callosum",
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- "val": "HP:0200010"
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- "definition": {
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- "pred": "hasExactSynonym",
- "val": "Large corpus callosum"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007076",
- "lbl": "Extrapyramidal muscular rigidity",
- "meta": {
- "comments": [
- "This is a classic type of extrapyramidal movement disorder."
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- "definition": {
- "val": "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).",
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- "type": "CLASS"
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- "lbl": "Decreased amplitude of sensory action potentials",
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- "lbl": "Late-onset muscular dystrophy",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007082",
- "lbl": "Dilated third ventricle",
- "meta": {
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- "The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle."
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- "definition": {
- "val": "An increase in size of the third ventricle.",
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- "type": "CLASS"
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- "lbl": "Hyperactive patellar reflex",
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- "synonyms": [
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- "val": "Brisk knee jerk"
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- {
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- "val": "Overactive knee reflex",
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- "pred": "hasExactSynonym",
- "val": "Hyperreflexia in knees"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007086",
- "lbl": "Social and occupational deterioration",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007087",
- "lbl": "obsolete Involuntary jerking movements",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007089",
- "lbl": "Facial-lingual fasciculations",
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- "type": "CLASS"
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- "lbl": "obsolete Frontoparietal polymicrogyria",
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- "lbl": "Hypoplasia of the optic tract",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007097",
- "lbl": "Cranial nerve motor loss",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007098",
- "lbl": "Paroxysmal choreoathetosis",
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- "lbl": "Chiari type I malformation",
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- "val": "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)",
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- "pred": "hasExactSynonym",
- "val": "Arnold Chiari type I malformation"
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- {
- "pred": "hasExactSynonym",
- "val": "Arnold-Chiari type I malformation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Chiari I malformation"
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- ],
- "xrefs": [
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- "val": "MSH:D001139"
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- {
- "val": "SNOMEDCT_US:253185002"
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- "val": "UMLS:C0750929"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007100",
- "lbl": "Progressive ventriculomegaly",
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- {
- "val": "UMLS:C1865119"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007103",
- "lbl": "Hypointensity of cerebral white matter on MRI",
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- "definition": {
- "val": "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007104",
- "lbl": "Prolonged somatosensory evoked potentials",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007105",
- "lbl": "Infantile encephalopathy",
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- "val": "Encephalopathy with onset in the infantile period.",
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- "id": "http://purl.obolibrary.org/obo/HP_0007107",
- "lbl": "Segmental peripheral demyelination",
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- "definition": {
- "val": "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.",
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- "val": "UMLS:C4024938"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007108",
- "lbl": "Demyelinating peripheral neuropathy",
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- "definition": {
- "val": "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.",
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- "HPO:probinson"
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- "xrefs": [
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- "val": "SNOMEDCT_US:23414001"
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- "val": "UMLS:C0270922"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007109",
- "lbl": "Periventricular cysts",
- "meta": {
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- "val": "UMLS:C1839858"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007110",
- "lbl": "Central hypoventilation",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C3805839"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007111",
- "lbl": "Chronic hepatic encephalopathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024937"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007112",
- "lbl": "Temporal cortical atrophy",
- "meta": {
- "definition": {
- "val": "Atrophy of the temporal cortex.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024936"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007115",
- "lbl": "Orbital encephalocele",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:15671007"
- },
- {
- "val": "UMLS:C0271330"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007117",
- "lbl": "Corticospinal tract atrophy",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C1838868"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007123",
- "lbl": "Subcortical dementia",
- "meta": {
- "definition": {
- "val": "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.",
- "xrefs": [
- "HPO:probinson",
- "PMID:4819905"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024935"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007126",
- "lbl": "Proximal amyotrophy",
- "meta": {
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- "val": "HP:0006966"
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- "val": "HP:0008943"
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- "val": "HP:0008980"
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- "Proximal amyotrophy usually has a roughly symmetric distribution."
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- "val": "Amyotrophy (muscular atrophy) affecting the proximal musculature.",
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- "synonyms": [
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- "val": "Wasting of muscles near the body",
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- "val": "Muscle atrophy, proximal"
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- "pred": "hasExactSynonym",
- "val": "Proximal muscle atrophy"
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- "pred": "hasExactSynonym",
- "val": "Proximal muscle wasting"
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- "pred": "hasExactSynonym",
- "val": "Symmetric proximal muscular atrophy"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Symmetrical, proximal limb muscle atrophy"
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- ],
- "xrefs": [
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- "val": "UMLS:C1850794"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007129",
- "lbl": "Cerebellar medulloblastoma",
- "meta": {
- "xrefs": [
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- "val": "UMLS:C4024934"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007131",
- "lbl": "Acute demyelinating polyneuropathy",
- "meta": {
- "comments": [
- "This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome."
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- "definition": {
- "val": "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.",
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- "val": "UMLS:C4024933"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007132",
- "lbl": "Pallidal degeneration",
- "meta": {
- "definition": {
- "val": "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.",
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- "xrefs": [
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- "val": "SNOMEDCT_US:230302004"
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- {
- "val": "UMLS:C0393577"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007133",
- "lbl": "Progressive peripheral neuropathy",
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- "pred": "hasExactSynonym",
- "val": "Progressive polyneuropathy"
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- "xrefs": [
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- "val": "UMLS:C1859178"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007141",
- "lbl": "Sensorimotor neuropathy",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Nerve damage causing decreased feeling and movement",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Mixed polyneuropathy"
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- {
- "pred": "hasExactSynonym",
- "val": "Sensorimotor peripheral neuropathy"
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- "xrefs": [
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- "val": "UMLS:C1112256"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007146",
- "lbl": "Bilateral basal ganglia lesions",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007149",
- "lbl": "Distal upper limb amyotrophy",
- "meta": {
- "definition": {
- "val": "Muscular atrophy of distal arm muscles.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Distal upper limb muscle atrophy"
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- "val": "UMLS:C4021581"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007153",
- "lbl": "Progressive extrapyramidal movement disorder",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007156",
- "lbl": "Asymmetric limb muscle stiffness",
- "meta": {
- "definition": {
- "val": "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.",
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- "xrefs": [
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007158",
- "lbl": "Progressive extrapyramidal muscular rigidity",
- "meta": {
- "definition": {
- "val": "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).",
- "xrefs": [
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- "val": "Progressive extrapyramidal rigidity"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007159",
- "lbl": "Fluctuations in consciousness",
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- "val": "UMLS:C1851959"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007162",
- "lbl": "Diffuse demyelination of the cerebral white matter",
- "meta": {
- "definition": {
- "val": "A diffuse loss of myelin from nerve fibers in the central nervous system.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "UMLS:C4024930"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007163",
- "lbl": "obsolete Corticospinal tract disease in lower limbs",
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- "deprecated": true
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007164",
- "lbl": "Slowed slurred speech",
- "meta": {
- "synonyms": [
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Slowed slurred speech"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007165",
- "lbl": "Periventricular heterotopia",
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- "comments": [
- "Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome."
- ],
- "definition": {
- "val": "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007166",
- "lbl": "Paroxysmal dyskinesia",
- "meta": {
- "definition": {
- "val": "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.",
- "xrefs": [
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- "synonyms": [
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- "pred": "hasRelatedSynonym",
- "val": "Involuntary dystonic or choreiform movements"
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- "xrefs": [
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- "val": "MSH:D002819"
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- {
- "val": "UMLS:C0752210"
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- {
- "val": "UMLS:C1836174"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007178",
- "lbl": "Motor polyneuropathy",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Peripheral motor neuropathy"
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- ],
- "xrefs": [
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- "val": "MSH:D009443"
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- {
- "val": "MSH:D011115"
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- {
- "val": "SNOMEDCT_US:85423005"
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- {
- "val": "SNOMEDCT_US:95663000"
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- {
- "val": "UMLS:C0235025"
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- {
- "val": "UMLS:C0271683"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007179",
- "lbl": "Absent smooth pursuit",
- "meta": {
- "definition": {
- "val": "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "UMLS:C4024928"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007181",
- "lbl": "Interosseus muscle atrophy",
- "meta": {
- "comments": [
- "This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles."
- ],
- "definition": {
- "val": "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.",
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Interosseous muscular atrophy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846829"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007182",
- "lbl": "Peripheral hypomyelination",
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- "val": "HP:0007160"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007226"
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- ],
- "comments": [
- "This finding can be demonstrated by nerve biopsy."
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- "definition": {
- "val": "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.",
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- "HPO:probinson"
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- "xrefs": [
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007183",
- "lbl": "Focal T2 hyperintense basal ganglia lesion",
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- "definition": {
- "val": "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.",
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- {
- "val": "UMLS:C4024926"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007185",
- "lbl": "Loss of consciousness",
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- {
- "pred": "hasExactSynonym",
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- "val": "Loss of consciousness"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Passing out"
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- ],
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- "val": "MSH:D014474"
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- "val": "SNOMEDCT_US:418107008"
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- {
- "val": "SNOMEDCT_US:419045004"
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- {
- "val": "UMLS:C0041657"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007187",
- "lbl": "Focal lissencephaly",
- "meta": {
- "definition": {
- "val": "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.",
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- "KI:phemming"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1855230"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007188",
- "lbl": "Congenital facial diplegia",
- "meta": {
- "definition": {
- "val": "Facial diplegia (that is, bilateral facial palsy) with congenital onset.",
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- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital bilateral facial palsy",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital bilateral facial weakness",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
- "xrefs": [
- {
- "val": "MSH:C531747"
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- {
- "val": "UMLS:C0853240"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007190",
- "lbl": "Neuronal loss in the cerebral cortex",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849485"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007193",
- "lbl": "Bilateral tonic-clonic seizure on awakening",
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- "val": "HP:0007008"
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- ],
- "definition": {
- "val": "Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).",
- "xrefs": [
- "HPO:probinson",
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- },
- "synonyms": [
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- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised tonic-clonic seizures on awakening"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Morning generalised tonic-clonic seizures"
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- "pred": "hasExactSynonym",
- "val": "Generalized tonic-clonic seizures on awakening"
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- ],
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- "val": "UMLS:C1847165"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007199",
- "lbl": "Progressive spastic paraparesis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C0747251"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007200",
- "lbl": "Episodic hypersomnia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024925"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007201",
- "lbl": "Cerebral artery atherosclerosis",
- "meta": {
- "definition": {
- "val": "The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.",
- "xrefs": [
- "HPO:probinson",
- "PMID:31420554"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Plaque build-up in cerebral artery",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
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- {
- "val": "UMLS:C4024924"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007204",
- "lbl": "Diffuse white matter abnormalities",
- "meta": {
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- ],
- "comments": [
- "This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging."
- ],
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- {
- "val": "UMLS:C4024923"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007206",
- "lbl": "Hemimegalencephaly",
- "meta": {
- "comments": [
- "The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia."
- ],
- "definition": {
- "val": "Enlargement of all or parts of one cerebral hemisphere.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17416820"
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- },
- "xrefs": [
- {
- "val": "MSH:D065705"
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- {
- "val": "SNOMEDCT_US:253170008"
- },
- {
- "val": "UMLS:C0431391"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007207",
- "lbl": "Photosensitive tonic-clonic seizure",
- "meta": {
- "definition": {
- "val": "Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.",
- "xrefs": [
- "HPO:probinson",
- "PMID:28276060"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Photosensitive tonic-clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Photically induced tonic-clonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Seizures, tonic-clonic, photosensitive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1846131"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007208",
- "lbl": "Irregular myelin loops",
- "meta": {
- "definition": {
- "val": "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.",
- "xrefs": [
- "PMID:20301641",
- "PMID:8817346"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024922"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007209",
- "lbl": "Facial paralysis",
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- "basicPropertyValues": [
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- "comments": [
- "Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment."
- ],
- "definition": {
- "val": "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).",
- "xrefs": [
- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Facial paralysis"
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- {
- "pred": "hasExactSynonym",
- "val": "Facial paresis",
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- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D005158"
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- {
- "val": "SNOMEDCT_US:280816001"
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- {
- "val": "SNOMEDCT_US:95666008"
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- {
- "val": "UMLS:C0015469"
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- {
- "val": "UMLS:C0427055"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007210",
- "lbl": "Lower limb amyotrophy",
- "meta": {
- "definition": {
- "val": "Muscular atrophy affecting the lower limb.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024921"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007215",
- "lbl": "Periodic hyperkalemic paralysis",
- "meta": {
- "definition": {
- "val": "Episodes of muscle weakness associated with elevated levels of potassium in the blood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkalemic periodic paralysis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D020513"
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- "val": "SNOMEDCT_US:304737009"
- },
- {
- "val": "UMLS:C0238357"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007220",
- "lbl": "Demyelinating motor neuropathy",
- "meta": {
- "comments": [
- "Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies."
- ],
- "definition": {
- "val": "Demyelination of peripheral motor nerves.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1969462"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007221",
- "lbl": "Progressive truncal ataxia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1849143"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007227",
- "lbl": "Macrogyria",
- "meta": {
- "definition": {
- "val": "Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D054082"
- },
- {
- "val": "SNOMEDCT_US:23024003"
- },
- {
- "val": "UMLS:C0266483"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007229",
- "lbl": "Intracerebral periventricular calcifications",
- "meta": {
- "definition": {
- "val": "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1837246"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007230",
- "lbl": "Decreased distal sensory nerve action potential",
- "meta": {
- "definition": {
- "val": "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024920"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007232",
- "lbl": "Spinocerebellar tract disease in lower limbs",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024919"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007233",
- "lbl": "Clusters of axonal regeneration",
- "meta": {
- "definition": {
- "val": "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.",
- "xrefs": [
- "HPO:jbaets"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1843169"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007236",
- "lbl": "Recurrent subcortical infarcts",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024918"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007238",
- "lbl": "Nonarteriosclerotic cerebral calcification",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cerebral calcification, nonarteriosclerotic"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021579"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007239",
- "lbl": "Congenital encephalopathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024917"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007240",
- "lbl": "Progressive gait ataxia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0002142"
- }
- ],
- "definition": {
- "val": "A type of gait ataxia displaying progression of clinical severity.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- ],
- "xrefs": [
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- "val": "UMLS:C1843885"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007249",
- "lbl": "Decreased number of small peripheral myelinated nerve fibers",
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- "val": "UMLS:C4024916"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007250",
- "lbl": "Recurrent external ophthalmoplegia",
- "meta": {
- "definition": {
- "val": "Alternating and recurrent weakness of the external ocular muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
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- "val": "UMLS:C4024915"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007256",
- "lbl": "Abnormal pyramidal sign",
- "meta": {
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- "val": "HP:0007161"
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- "val": "HP:0007225"
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- "val": "HP:0007275"
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- "val": "HP:0007324"
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- "val": "HP:0007347"
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- ],
- "comments": [
- "Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts."
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- "definition": {
- "val": "Functional neurological abnormalities related to dysfunction of the pyramidal tract.",
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- "HPO:probinson"
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Corticospinal signs"
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- {
- "pred": "hasExactSynonym",
- "val": "Pyramidal signs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Pyramidal tract signs"
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- "xrefs": [
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- "val": "SNOMEDCT_US:14648003"
- },
- {
- "val": "UMLS:C0234132"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007258",
- "lbl": "Severe demyelination of the white matter",
- "meta": {
- "definition": {
- "val": "A severe loss of myelin from nerve fibers in the central nervous system.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C1856001"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007260",
- "lbl": "Type II lissencephaly",
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- "definition": {
- "val": "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.",
- "xrefs": [
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- "synonyms": [
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- "val": "Cobblestone lissencephaly"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Lissencephaly type II"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Type 2 lissencephaly"
- }
- ],
- "xrefs": [
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- "val": "MSH:D054222"
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- {
- "val": "SNOMEDCT_US:253149002"
- },
- {
- "val": "UMLS:C0431376"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007262",
- "lbl": "Symmetric peripheral demyelination",
- "meta": {
- "definition": {
- "val": "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.",
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- "HPO:probinson"
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- "xrefs": [
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- "val": "UMLS:C4024914"
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- ]
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007263",
- "lbl": "Spinocerebellar atrophy",
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- "definition": {
- "val": "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.",
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- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "SNOMEDCT_US:129609000"
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- {
- "val": "UMLS:C0087012"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007265",
- "lbl": "Absent mesencephalon",
- "meta": {
- "comments": [
- "Midbrain and mesencephalon are synonymous."
- ],
- "definition": {
- "val": "Agenesis of the midbrain.",
- "xrefs": [
- "KI:phemming"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024913"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007266",
- "lbl": "Cerebral dysmyelination",
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- "val": "HP:0007217"
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- ],
- "definition": {
- "val": "Defective structure and function of myelin sheaths of the white matter of the brain.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
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- "val": "Areas of dysmyelination on MRI"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dysmyelination of the brain"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "White matter dysmyelination/demyelination"
- }
- ],
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007267",
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- "This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves."
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- "id": "http://purl.obolibrary.org/obo/HP_0007269",
- "lbl": "Spinal muscular atrophy",
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- "val": "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.",
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- "val": "SNOMEDCT_US:5262007"
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- "type": "CLASS"
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- "lbl": "Atypical absence seizure",
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- "val": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007271",
- "lbl": "Occipital myelomeningocele",
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- "val": "UMLS:C4024912"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007272",
- "lbl": "Progressive psychomotor deterioration",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007274",
- "lbl": "Recurrent bacterial meningitis",
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- "definition": {
- "val": "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.",
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- "xrefs": [
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- "val": "UMLS:C1845604"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007277",
- "lbl": "Paucity of anterior horn motor neurons",
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- "val": "UMLS:C2673351"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007280",
- "lbl": "Acute infantile spinal muscular atrophy",
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- "val": "UMLS:C4024911"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007281",
- "lbl": "Developmental stagnation",
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- "val": "HP:0007198"
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- ],
- "definition": {
- "val": "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.",
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- },
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- "val": "Developmental arrest"
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- ],
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- "val": "UMLS:C1848980"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007285",
- "lbl": "Facial palsy secondary to cranial hyperostosis",
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- "definition": {
- "val": "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.",
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- },
- "synonyms": [
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- "val": "Facial palsy caused by enlargement of cranial bones",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Facial palsy caused by excessive growth of facial bones",
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- },
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- "val": "Facial palsy caused by overgrowth of cranial bones",
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- "pred": "hasExactSynonym",
- "val": "Facial palsy secondary to hypertrophy of cranial bones",
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- "val": "UMLS:C1849260"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007286",
- "lbl": "Horizontal jerk nystagmus",
- "meta": {
- "comments": [
- "Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other."
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- "definition": {
- "val": "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.",
- "xrefs": [
- "HPO:probinson"
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- },
- "xrefs": [
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- "val": "UMLS:C4024910"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007289",
- "lbl": "Limb fasciculations",
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- "definition": {
- "val": "Fasciculations affecting the musculature of the arms and legs.",
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- "HPO:curators"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Limb fasciculation"
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- "val": "UMLS:C1854657"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007291",
- "lbl": "Posterior fossa cyst",
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- "definition": {
- "val": "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.",
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- "HPO:probinson",
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- },
- "xrefs": [
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- "val": "UMLS:C1857353"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007293",
- "lbl": "Anterior sacral meningocele",
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- "xrefs": [
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- "val": "UMLS:C1867776"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007295",
- "lbl": "Chaotic rapid conjugate ocular movements",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024909"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007299",
- "lbl": "Dysfunction of lateral corticospinal tracts",
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- "val": "UMLS:C1832671"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007301",
- "lbl": "Oromotor apraxia",
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- "comments": [
- "Affected individuals may experience difficulty in performing movements involving the muscles that also are involved in speech (e.g., clicking the tongue, licking the lips, whistling)."
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- "definition": {
- "val": "Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.",
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- "pred": "hasExactSynonym",
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007302",
- "lbl": "Bipolar affective disorder",
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- "val": "Bipolar disorder"
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- "val": "MSH:D001714"
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- "val": "SNOMEDCT_US:13746004"
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- "val": "UMLS:C0005586"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007305",
- "lbl": "CNS demyelination",
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- "CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes."
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- "definition": {
- "val": "A loss of myelin from nerve fibers in the central nervous system.",
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- "id": "http://purl.obolibrary.org/obo/HP_0007307",
- "lbl": "Rapid neurologic deterioration",
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007308",
- "lbl": "Extrapyramidal dyskinesia",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007311",
- "lbl": "Short stepped shuffling gait",
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- "type": "CLASS"
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- "lbl": "Cerebral degeneration",
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- "val": "SNOMEDCT_US:52522001"
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- "val": "UMLS:C0154671"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007314",
- "lbl": "obsolete White matter neuronal heterotopia",
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- "type": "CLASS"
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- "lbl": "obsolete Involuntary writhing movements",
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- "definition": {
- "val": "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007325",
- "lbl": "Generalized dystonia",
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- "val": "A type of dystonia that affects all or most of the body.",
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- },
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- "val": "UMLS:C1848954"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007326",
- "lbl": "Progressive choreoathetosis",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007327",
- "lbl": "Mixed demyelinating and axonal polyneuropathy",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007328",
- "lbl": "Impaired pain sensation",
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- "val": "Reduced ability to perceive painful stimuli.",
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- },
- "synonyms": [
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- "val": "Decreased pain sensation"
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- "val": "Impaired pain sensation"
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- "pred": "hasExactSynonym",
- "val": "Decreased pinprick sensation"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007330",
- "lbl": "Frontal encephalocele",
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- "val": "SNOMEDCT_US:253103006"
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- "type": "CLASS"
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- "definition": {
- "val": "Focal seizure characterized at onset by clonic movements affecting half of the face.",
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- "pred": "hasExactSynonym",
- "val": "Frontal lobe hypoplasia"
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- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- "The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset."
- ],
- "definition": {
- "val": "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.",
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- "HPO:probinson",
- "PMID:28276060",
- "PMID:28276064"
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- },
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- },
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- "pred": "hasExactSynonym",
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- "val": "Secondary generalised tonic clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "Secondary generalised tonic-clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure with secondary generalisation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal seizure with secondary generalization"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal to bilateral tonic-clonic seizure"
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- {
- "pred": "hasExactSynonym",
- "val": "Generalised tonic-clonic seizure with focal onset"
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- {
- "pred": "hasExactSynonym",
- "val": "Generalised tonic-clonic seizure with partial onset"
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- {
- "pred": "hasExactSynonym",
- "val": "Generalized tonic-clonic seizure with focal onset"
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- {
- "pred": "hasExactSynonym",
- "val": "Generalized tonic-clonic seizure with partial onset"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure with secondary generalisation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure with secondary generalization"
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- {
- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Secondarily generalised tonic-clonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Secondarily generalised tonic-clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Secondarily generalized tonic-clonic seizure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Secondary generalized tonic clonic seizures"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Secondary generalized tonic-clonic seizures"
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- {
- "val": "UMLS:C0877017"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007335",
- "lbl": "Recurrent encephalopathy",
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- "val": "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.",
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- "HPO:probinson"
- ]
- },
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007338",
- "lbl": "Hypermetric saccades",
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- "val": "A saccade that overshoots the target with the dynamic saccade.",
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- "HPO:probinson",
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- "type": "CLASS"
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- "Inability to perform rapid, alternating movements."
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- "HPO:curators"
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- "type": "CLASS"
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- "lbl": "Diffuse swelling of cerebral white matter",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007343",
- "lbl": "Abnormal morphology of the limbic system",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007344",
- "lbl": "Atrophy/Degeneration involving the spinal cord",
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- "pred": "hasExactSynonym",
- "val": "Atrophic and degenerative changes in the spinal cord"
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- ],
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- "val": "UMLS:C1843858"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007346",
- "lbl": "Subcortical white matter calcifications",
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- "lbl": "Hypoplasia of the pyramidal tract",
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007350",
- "lbl": "Hyperreflexia in upper limbs",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007351",
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- "val": "A type of tremors that is triggered by holding an arm in a fixed position.",
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- "lbl": "Cerebellar calcifications",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007354",
- "lbl": "Amyotrophic lateral sclerosis",
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- "val": "MSH:D000690"
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- "type": "CLASS"
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- "HPO:jalbers",
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- },
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Focal seizure"
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- {
- "pred": "hasExactSynonym",
- "val": "Partial seizure"
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- "id": "http://purl.obolibrary.org/obo/HP_0007360",
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- "type": "CLASS"
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- {
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- "definition": {
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- "val": "HP:0007003"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007060"
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- "val": "HP:0007061"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007137"
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- ],
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- "val": "Absence or underdevelopment of the corpus callosum.",
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Agenesis/hypoplastic corpus callosum"
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- {
- "pred": "hasExactSynonym",
- "val": "Complete or partial absence of the corpus callosum"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia or absence of the corpus callosum"
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- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic or absent corpus callosum"
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- "val": "UMLS:C1861866"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007371",
- "lbl": "Corpus callosum atrophy",
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- "val": "2008-04-01T10:36:00Z"
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- "val": "HP:0005712"
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- ],
- "definition": {
- "val": "The presence of atrophy (wasting) of the corpus callosum.",
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Atrophy of the corpus callosum"
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- {
- "pred": "hasExactSynonym",
- "val": "Atrophy/Degeneration of the corpus callosum"
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- "val": "SNOMEDCT_US:253142006"
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- "val": "UMLS:C0431370"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007372",
- "lbl": "Atrophy/Degeneration involving the corticospinal tracts",
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- "val": "2008-04-01T10:38:00Z"
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- ],
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- "val": "UMLS:C4024897"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007373",
- "lbl": "Motor neuron atrophy",
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- "val": "2008-04-01T10:39:00Z"
- }
- ],
- "definition": {
- "val": "Wasting involving the motor neuron.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Motor neuron degeneration",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024896"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007374",
- "lbl": "Atrophy/Degeneration involving the caudate nucleus",
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- "val": "2008-04-01T10:47:00Z"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007375",
- "lbl": "Abnormal septum pellucidum morphology",
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- "val": "2008-04-01T10:48:00Z"
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- "definition": {
- "val": "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.",
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- "pred": "hasExactSynonym",
- "val": "Abnormality of the septum pellucidum"
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- ],
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- "val": "UMLS:C4024894"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007376",
- "lbl": "Abnormal choroid plexus morphology",
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- "val": "2008-04-01T10:52:00Z"
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- ],
- "comments": [
- "The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced."
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- "definition": {
- "val": "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C4024893"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007377",
- "lbl": "Abnormality of somatosensory evoked potentials",
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- "val": "2008-04-01T11:23:00Z"
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- "definition": {
- "val": "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.",
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of SSEPs"
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- ],
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- "val": "UMLS:C4021577"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007378",
- "lbl": "Neoplasm of the gastrointestinal tract",
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- "val": "2008-04-01T11:55:00Z"
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- ],
- "definition": {
- "val": "A tumor (abnormal growth of tissue) of the gastrointestinal tract.",
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- },
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- {
- "pred": "hasExactSynonym",
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- "val": "Gastrointestinal tract tumor"
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- {
- "pred": "hasExactSynonym",
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- "val": "GI tract tumour"
- },
- {
- "pred": "hasExactSynonym",
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- {
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- "val": "GI tract tumor",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Gastrointestinal tract neoplasia"
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- {
- "pred": "hasExactSynonym",
- "val": "Gastrointestinal tract neoplasm"
- }
- ],
- "xrefs": [
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- "val": "MSH:D005770"
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- {
- "val": "NCIT:C3262"
- },
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- "val": "SNOMEDCT_US:126768004"
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- {
- "val": "UMLS:C0017185"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007379",
- "lbl": "Neoplasm of the genitourinary tract",
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- "val": "2008-04-01T12:00:00Z"
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- "definition": {
- "val": "A tumor (abnormal growth of tissue) of the genitourinary system.",
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- "synonyms": [
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- "val": "Genitourinary tract neoplasm"
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- {
- "pred": "hasRelatedSynonym",
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- "xrefs": [
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- "val": "MSH:D014565"
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- "val": "NCIT:C3262"
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- "val": "UMLS:C0042065"
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- "val": "UMLS:C4020809"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007380",
- "lbl": "Facial telangiectasia",
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- "definition": {
- "val": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.",
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- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia, facial"
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- "xrefs": [
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- "val": "UMLS:C0858684"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007381",
- "lbl": "Congenital exfoliative erythroderma",
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- "type": "CLASS"
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- "lbl": "Congenital localized absence of skin",
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- "lbl": "Aberrant melanosome maturation",
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- "type": "CLASS"
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- "lbl": "Hypoplastic sweat glands",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007390",
- "lbl": "Hyperkeratosis with erythema",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007392",
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- "type": "CLASS"
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- "lbl": "Prominent superficial blood vessels",
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- "type": "CLASS"
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- "lbl": "Postnatal-onset ichthyosiform erythroderma",
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- "lbl": "Early cutaneous photosensitivity",
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- "type": "CLASS"
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- "lbl": "Axillary apocrine gland hypoplasia",
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- "type": "CLASS"
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- "lbl": "Macular atrophy",
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- "lbl": "Nonepidermolytic palmoplantar hyperkeratosis",
- "meta": {
- "definition": {
- "val": "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.",
- "xrefs": [
- "PMID:7528239"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nonepidermolytic palmoplantar keratoderma"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563422"
- },
- {
- "val": "UMLS:C1833030"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007406",
- "lbl": "Hyperpigmentation of eyelids",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Dark eyelids",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Brown eyelids",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentation of eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C562400"
- },
- {
- "val": "SNOMEDCT_US:41115008"
- },
- {
- "val": "UMLS:C0155211"
- },
- {
- "val": "UMLS:C0854438"
- },
- {
- "val": "UMLS:C4280440"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007407",
- "lbl": "Excessive skin wrinkling on dorsum of hands and fingers",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive skin wrinkling on back of hands and fingers",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837467"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007408",
- "lbl": "Tegumentary leishmaniasis susceptibility",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to infection by the protozan parasite of the genus Leishmania.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C2748501"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007409",
- "lbl": "obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0003758"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007410",
- "lbl": "Palmoplantar hyperhidrosis",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007624"
- }
- ],
- "definition": {
- "val": "An abnormally increased perspiration on palms and soles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive sweating of palms and soles",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperhidrosis of palms and soles"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C563185"
- },
- {
- "val": "SNOMEDCT_US:403375001"
- },
- {
- "val": "UMLS:C1274743"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007411",
- "lbl": "Hypoplastic-absent sebaceous glands",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1844617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007412",
- "lbl": "Macular hyperpigmented dermopathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024885"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007413",
- "lbl": "Nevus flammeus of the forehead",
- "meta": {
- "definition": {
- "val": "Naevus flammeus localised in the skin of the forehead.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Port-wine stain on forehead",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848850"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007414",
- "lbl": "Neonatal wrinkled skin of hands and feet",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wrinkled skin of hands and feet in newborn",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007417",
- "lbl": "Discoid lupus rash",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#created_by",
- "val": "ORCID:0000-0002-5316-1399"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000981"
- }
- ],
- "comments": [
- "This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases."
- ],
- "definition": {
- "val": "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Discoid lupus erythematosus"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D008179"
- },
- {
- "val": "SNOMEDCT_US:200938002"
- },
- {
- "val": "SNOMEDCT_US:238927000"
- },
- {
- "val": "UMLS:C0024138"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007418",
- "lbl": "Alopecia totalis",
- "meta": {
- "definition": {
- "val": "Loss of all scalp hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Total alopecia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:19754005"
- },
- {
- "val": "UMLS:C0263504"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007420",
- "lbl": "Spontaneous hematomas",
- "meta": {
- "definition": {
- "val": "Spontaneous development of hematomas (hematoma) or bruises without significant trauma.",
- "xrefs": [
- "DDD:akelly"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1697453"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007421",
- "lbl": "Telangiectases of the cheeks",
- "meta": {
- "definition": {
- "val": "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Telangiectasia on the cheeks",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3554587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007425",
- "lbl": "Hyperextensible skin of face",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Hyperelastic face skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stretchable face skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024883"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007427",
- "lbl": "Reticulated skin pigmentation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Reticular pigmentation pattern",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Reticulate skin pigmentation",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3279575"
- },
- {
- "val": "UMLS:C3279601"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007428",
- "lbl": "Telangiectasia of the oral mucosa",
- "meta": {
- "definition": {
- "val": "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Spider veins of the oral mucosa",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioectasia of the oral mucosa",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Angioectasia of the oral mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectasia of the oral mucous membrane",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007429",
- "lbl": "Few cafe-au-lait spots",
- "meta": {
- "definition": {
- "val": "The presence of two to five cafe-au-lait macules.",
- "xrefs": [
- "DDD:cmoss"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024881"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007430",
- "lbl": "Generalized edema",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007575"
- }
- ],
- "definition": {
- "val": "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised oedema"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised tissue oedema"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized tissue edema"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:271808008"
- },
- {
- "val": "UMLS:C1850534"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007431",
- "lbl": "Congenital ichthyosiform erythroderma",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007478"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007484"
- }
- ],
- "definition": {
- "val": "An ichthyosiform abnormality of the skin with congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital ichthyosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ichthyosis, congenital"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D016113"
- },
- {
- "val": "SNOMEDCT_US:254156001"
- },
- {
- "val": "SNOMEDCT_US:268282005"
- },
- {
- "val": "UMLS:C0079583"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007432",
- "lbl": "Intermittent generalized erythematous papular rash",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Intermittent generalised erythematous papular rash"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2749995"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007434",
- "lbl": "Plaque-like facial hemangioma",
- "meta": {
- "definition": {
- "val": "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hemangioma, facial, plaque-like"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1847884"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007435",
- "lbl": "obsolete Diffuse palmoplantar keratoderma",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007447"
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- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007436",
- "lbl": "Hair-nail ectodermal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024880"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007437",
- "lbl": "Multiple cutaneous leiomyomas",
- "meta": {
- "definition": {
- "val": "The presence of multiple leiomyomas of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C535516"
- },
- {
- "val": "NCIT:C3157"
- },
- {
- "val": "UMLS:C1708350"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007438",
- "lbl": "Mottled pigmentation of the trunk and proximal extremities",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1851551"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007439",
- "lbl": "Generalized keratosis follicularis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised keratosis follicularis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024879"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007440",
- "lbl": "Generalized hyperpigmentation",
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- "pred": "hasExactSynonym",
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- "val": "Generalised hyperpigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024878"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007441",
- "lbl": "Hyperpigmented/hypopigmented macules",
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- "val": "UMLS:C4024877"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007443",
- "lbl": "Partial albinism",
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- "val": "HP:0001044"
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- ],
- "definition": {
- "val": "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.",
- "xrefs": [
- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Partial absent skin pigmentation",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital partial albinism on face, trunk, or limbs"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital partial leucoderma"
- }
- ],
- "xrefs": [
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- "val": "MSH:D016116"
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- {
- "val": "SNOMEDCT_US:6479008"
- },
- {
- "val": "SNOMEDCT_US:718122005"
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- {
- "val": "UMLS:C0080024"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007446",
- "lbl": "Palmoplantar blistering",
- "meta": {
- "definition": {
- "val": "A type of blistering that affects the skin of the palms of the hands and the soles of the feet.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024876"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007447",
- "lbl": "Diffuse palmoplantar hyperkeratosis",
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- ],
- "comments": [
- "The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature."
- ],
- "definition": {
- "val": "Diffuse abnormal thickening of the skin on the palms and soles.",
- "xrefs": [
- "PMID:17298101"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse palmoplantar keratoderma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis, diffuse palmoplantar"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015776"
- },
- {
- "val": "UMLS:C4021575"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007448",
- "lbl": "Hyperkeratosis over edematous areas",
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- {
- "val": "UMLS:C1835253"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007449",
- "lbl": "Confetti-like hypopigmented macules",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1851705"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007450",
- "lbl": "Increased groin pigmentation with raindrop depigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024875"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007451",
- "lbl": "Ipsilateral lack of facial sweating",
- "meta": {
- "definition": {
- "val": "Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.",
- "xrefs": [
- "PMID:29763176"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024874"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007452",
- "lbl": "Midface capillary hemangioma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007611"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Midfacial capillary hemangioma"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849377"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007453",
- "lbl": "Flexural lichenification",
- "meta": {
- "comments": [
- "The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces."
- ],
- "definition": {
- "val": "Lichenification affecting primarily flexural areas of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007455",
- "lbl": "Adermatoglyphia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:C565010"
- },
- {
- "val": "UMLS:C1852150"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007456",
- "lbl": "Progressive reticulate hyperpigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024872"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007457",
- "lbl": "Prominent veins on trunk",
- "meta": {
- "definition": {
- "val": "Prominent thoracic and abdominal veins.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024871"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007458",
- "lbl": "Focal hyperextensible skin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024870"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007459",
- "lbl": "Generalized anhidrosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised anhidrosis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised anhydrosis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised inability to sweat"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized anhydrosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized inability to sweat",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024869"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007460",
- "lbl": "Autoamputation of digits",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1852289"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007461",
- "lbl": "Hemangiomatosis",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:254785001"
- },
- {
- "val": "SNOMEDCT_US:47669001"
- },
- {
- "val": "UMLS:C1384590"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007462",
- "lbl": "Bitot spots of the conjunctiva",
- "meta": {
- "comments": [
- "Bitot spots can be a feature of vitamin A deficiency."
- ],
- "definition": {
- "val": "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Bitot's spots"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:246871006"
- },
- {
- "val": "UMLS:C0423178"
- },
- {
- "val": "UMLS:C4024868"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007464",
- "lbl": "Sparse facial hair",
- "meta": {
- "definition": {
- "val": "Reduced number or density of facial hair.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sparse facial hair"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2017869"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007465",
- "lbl": "Honeycomb palmoplantar hyperkeratosis",
- "meta": {
- "definition": {
- "val": "Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.",
- "xrefs": [
- "PMID:9326323"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866032"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007466",
- "lbl": "Midfrontal capillary hemangioma",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1859339"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007468",
- "lbl": "Perifollicular hyperkeratosis",
- "meta": {
- "definition": {
- "val": "Increased amount of keratin (visible as white scales) surrounding hair follicles.",
- "xrefs": [
- "PMID:23044575"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024867"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007469",
- "lbl": "Palmoplantar cutis gyrata",
- "meta": {
- "definition": {
- "val": "Cutis gyrata of palms and soles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cutis gyrata of palms and soles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851797"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007470",
- "lbl": "Periarticular subcutaneous nodules",
- "meta": {
- "definition": {
- "val": "Subcutaneous nodules that are located in the vicinity of joints.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3806306"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007471",
- "lbl": "Axillary and groin hyperpigmentation and hypopigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024866"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007473",
- "lbl": "Crusting erythematous dermatitis",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1868496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007475",
- "lbl": "Congenital bullous ichthyosiform erythroderma",
- "meta": {
- "comments": [
- "Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature."
- ],
- "definition": {
- "val": "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bullous congenital ichthyosiform erythroderma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Epidermolytic hyperkeratosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017488"
- },
- {
- "val": "SNOMEDCT_US:239071005"
- },
- {
- "val": "SNOMEDCT_US:254167000"
- },
- {
- "val": "UMLS:C0079153"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007476",
- "lbl": "Anhidrotic ectodermal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D004476"
- },
- {
- "val": "SNOMEDCT_US:7731005"
- },
- {
- "val": "UMLS:C1706004"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007477",
- "lbl": "Abnormal dermatoglyphics",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007422"
- }
- ],
- "definition": {
- "val": "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal fingerprints",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Dermatoglyphic abnormalities"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:83145004"
- },
- {
- "val": "UMLS:C0432333"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007479",
- "lbl": "Congenital nonbullous ichthyosiform erythroderma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001021"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007388"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007512"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007619"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007625"
- }
- ],
- "definition": {
- "val": "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Collodion baby"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital lamellar ichthyosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital non-bullous ichthyosis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ichthyosis lammellaris"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ichthyosis, congenital, nonblistering"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nonbullous congenital ichthyosiform erythroderma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Nonbullous congenital ichthyosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D017490"
- },
- {
- "val": "SNOMEDCT_US:205550003"
- },
- {
- "val": "SNOMEDCT_US:267372009"
- },
- {
- "val": "SNOMEDCT_US:268245001"
- },
- {
- "val": "UMLS:C0079154"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007480",
- "lbl": "Decreased sweating due to autonomic dysfunction",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1868527"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007481",
- "lbl": "Hyperpigmented nevi",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C0746889"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007482",
- "lbl": "Generalized papillary lesions",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised papillary lesions"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024865"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007483",
- "lbl": "Depigmentation/hyperpigmentation of skin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024864"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007485",
- "lbl": "Absence of subcutaneous fat",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007519"
- }
- ],
- "definition": {
- "val": "Lack of subcutaneous adipose tissue.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lack of fatty tissue below the skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent fat below the skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "General absence of subcutaneous fat"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0241267"
- },
- {
- "val": "UMLS:C4024855"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007486",
- "lbl": "Cavernous hemangioma of the face",
- "meta": {
- "xrefs": [
- {
- "val": "NCIT:C3086"
- },
- {
- "val": "UMLS:C1332863"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007488",
- "lbl": "Diffuse skin atrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024863"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007489",
- "lbl": "Diffuse telangiectasia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007405"
- }
- ],
- "definition": {
- "val": "Telangiectases (small dilated blood vessels) with a diffuse localization.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Diffuse telangiectases"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Telangiectases, random body distribution"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:125279001"
- },
- {
- "val": "UMLS:C1265776"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007490",
- "lbl": "Linear arrays of macular hyperkeratoses in flexural areas",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1866031"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007494",
- "lbl": "Discrete 2 to 5-mm hyper- and hypopigmented macules",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1851552"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007495",
- "lbl": "Prematurely aged appearance",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001599"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Precociously senile appearance"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Prematurely aged appearance"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857656"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007497",
- "lbl": "Focal friction-related palmoplantar hyperkeratosis",
- "meta": {
- "definition": {
- "val": "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis, palmoplantar, focal friction-related"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835654"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007499",
- "lbl": "Recurrent staphylococcal infections",
- "meta": {
- "definition": {
- "val": "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.",
- "xrefs": [
- "ORCID:0000-0001-7941-2961"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Recurrent staphylococcal infections"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024862"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007500",
- "lbl": "Decreased number of sweat glands",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007555"
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007594"
- }
- ],
- "definition": {
- "val": "The presence of fewer than normal sweat glands.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased sweat glands"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased sweat pores"
- }
- ],
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- {
- "val": "UMLS:C4021574"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007501",
- "lbl": "Streaks of hyperkeratosis along each finger onto the palm",
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- {
- "val": "UMLS:C4024861"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007502",
- "lbl": "Follicular hyperkeratosis",
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007600"
- }
- ],
- "definition": {
- "val": "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.",
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- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hyperkeratosis follicularis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:238629004"
- },
- {
- "val": "SNOMEDCT_US:402341008"
- },
- {
- "val": "SNOMEDCT_US:81845009"
- },
- {
- "val": "UMLS:C0334013"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007503",
- "lbl": "Generalized ichthyosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised ichthyosis"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3552528"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007504",
- "lbl": "Diffuse slow skin atrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024860"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007505",
- "lbl": "Progressive hyperpigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024859"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007506",
- "lbl": "Congenital absence of skin of limbs",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing skin on limbs since birth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024858"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007508",
- "lbl": "Punctate palmar hyperkeratosis",
- "meta": {
- "definition": {
- "val": "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands."
- },
- "xrefs": [
- {
- "val": "UMLS:C4024857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007509",
- "lbl": "Patchy hypo- and hyperpigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007487"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Patchy hypo- and hyper-pigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007510",
- "lbl": "Focal dermal aplasia/hypoplasia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1834069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007511",
- "lbl": "Mottled pigmentation of photoexposed areas",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3151964"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007513",
- "lbl": "Generalized hypopigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000984"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007419"
- }
- ],
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Fair skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pale pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised hypopigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849923"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007514",
- "lbl": "Edema of the dorsum of hands",
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- "basicPropertyValues": [
- {
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- "val": "HP:0007528"
- }
- ],
- "definition": {
- "val": "An abnormal accumulation of fluid beneath the skin on the back of the hands.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Oedema of dorsum of hands"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Oedema of the dorsum of hands"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Edema of dorsum of hands"
- }
- ],
- "xrefs": [
- {
- "val": "MEDDRA:10058204"
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- {
- "val": "SNOMEDCT_US:443710002"
- },
- {
- "val": "UMLS:C2732374"
- },
- {
- "val": "UMLS:C2751873"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007515",
- "lbl": "Hypoplastic pilosebaceous units",
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- "xrefs": [
- {
- "val": "UMLS:C1832454"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007516",
- "lbl": "Redundant skin on fingers",
- "meta": {
- "definition": {
- "val": "Loose and sagging skin of the fingers.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Extra skin on fingers",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024856"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007517",
- "lbl": "Palmoplantar cutis laxa",
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- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001016"
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- ],
- "definition": {
- "val": "Loose, wrinkled skin of hands and feet.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excessive wrinkled skin of palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased wrinkles of palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wrinkled palms and soles"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Wrinkled skin of hands and feet"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Furrowed palms and soles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856714"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007519",
- "lbl": "obsolete Lack of subcutaneous fatty tissue",
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- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007485"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007521",
- "lbl": "Irregular hyperpigmentation of back",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024854"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007522",
- "lbl": "Increased number of skin folds",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased number of skin folds"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024853"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007524",
- "lbl": "Atypical neurofibromatosis",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:C537392"
- },
- {
- "val": "UMLS:C0220695"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007525",
- "lbl": "Yellow subcutaneous tissue covered by thin, scaly skin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1850533"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007526",
- "lbl": "Hypopigmented skin patches on arms",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Patchy loss of skin colour on arms"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Patchy loss of skin color on arms",
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- "https://orcid.org/0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypopigmented upper extremeity skin patches"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C4024852"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007529",
- "lbl": "Hidrotic ectodermal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D004476"
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- {
- "val": "SNOMEDCT_US:54209007"
- },
- {
- "val": "UMLS:C0162361"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007530",
- "lbl": "Punctate palmoplantar hyperkeratosis",
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- "xrefs": [
- {
- "val": "UMLS:C4024851"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007534",
- "lbl": "Congenital posterior occipital alopecia",
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- "definition": {
- "val": "Loss of hair in the occipital region of the scalp with congenital onset.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024850"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007535",
- "lbl": "Hypopigmented streaks",
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- "xrefs": [
- {
- "val": "UMLS:C1866244"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007536",
- "lbl": "Aplasia cutis congenita of midline scalp vertex",
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- {
- "val": "UMLS:C4024849"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007537",
- "lbl": "Severe photosensitivity",
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- "definition": {
- "val": "A severe degree of photosensitivity of the skin.",
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- "HPO:curators"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Severe sun sensitivity",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1849186"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007541",
- "lbl": "Frontal cutaneous lipoma",
- "meta": {
- "definition": {
- "val": "Presence of a cutaneous lipoma on the forehead.",
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- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "NCIT:C3192"
- },
- {
- "val": "UMLS:C1850970"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007542",
- "lbl": "Absent pigmentation of the ventral chest",
- "meta": {
- "definition": {
- "val": "Lack of skin pigmentation (coloring) of the anterior chest.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024848"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007543",
- "lbl": "Epidermal hyperkeratosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased thickness of skin epidermis",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1848773"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007544",
- "lbl": "Piebaldism",
- "meta": {
- "definition": {
- "val": "Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.",
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- "HPO:probinson"
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- },
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- "val": "MSH:D016116"
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- {
- "val": "SNOMEDCT_US:6479008"
- },
- {
- "val": "SNOMEDCT_US:718122005"
- },
- {
- "val": "UMLS:C0080024"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007545",
- "lbl": "Congenital palmoplantar hyperkeratosis",
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- "definition": {
- "val": "Abnormal thickening of the skin on the palms and soles that is present at birth."
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital palmoplantar keratoderma"
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- {
- "pred": "hasExactSynonym",
- "val": "Congenital palmoplantar keratodermia"
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- {
- "pred": "hasExactSynonym",
- "val": "Congenital palmoplantar keratosis"
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- ],
- "xrefs": [
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- "val": "UMLS:C1855633"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007546",
- "lbl": "Linear hyperpigmentation",
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- "val": "UMLS:C3278658"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007548",
- "lbl": "obsolete Palmoplantar keratosis with erythema and scale",
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- "val": "HP:0000972"
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- "deprecated": true
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007549",
- "lbl": "Desquamation of skin soon after birth",
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- "xrefs": [
- {
- "val": "UMLS:C1842714"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007550",
- "lbl": "Hypohidrosis or hyperhidrosis",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021831"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007552",
- "lbl": "Abnormal subcutaneous fat tissue distribution",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormal fat tissue distribution below the skin",
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- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859347"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007553",
- "lbl": "Congenital symmetrical palmoplantar keratosis",
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- "xrefs": [
- {
- "val": "UMLS:C1855459"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007554",
- "lbl": "Confetti hypopigmentation pattern of lower leg skin",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Confetti hypopigmentation pattern of lower leg skin"
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- "val": "UMLS:C4024847"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007556",
- "lbl": "Plantar hyperkeratosis",
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- "val": "HP:0007445"
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- ],
- "definition": {
- "val": "Hyperkeratosis affecting the sole of the foot.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Plantar hyperkeratoses"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1856954"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007559",
- "lbl": "Localized epidermolytic hyperkeratosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Localised epidermolytic hyperkeratosis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D053546"
- },
- {
- "val": "UMLS:C1721006"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007560",
- "lbl": "Unusual dermatoglyphics",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024846"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007561",
- "lbl": "obsolete Telangiectases in sun-exposed and nonexposed skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0100585"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007565",
- "lbl": "Multiple cafe-au-lait spots",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007416"
- }
- ],
- "definition": {
- "val": "The presence of six or more cafe-au-lait spots.",
- "xrefs": [
- "DDD:cmoss"
- ]
- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple birthmarks"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Multiple flat light-brown marks on skin",
- "xrefs": [
- "https://orcid.org/0000-0001-5208-3432",
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537421"
- },
- {
- "val": "UMLS:C1861975"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007566",
- "lbl": "Index finger dermatoglyphic radial loop",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024845"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007569",
- "lbl": "Generalized seborrheic dermatitis",
- "meta": {
- "definition": {
- "val": "Seborrheic dermatitis that is not localized to any one particular region."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised seborrheic dermatitis"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised seborrheic eczema"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Generalized seborrheic eczema",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024844"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007570",
- "lbl": "Hyperkeratosis lenticularis perstans",
- "meta": {
- "definition": {
- "val": "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Flegel disease"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C538377"
- },
- {
- "val": "SNOMEDCT_US:28488007"
- },
- {
- "val": "UMLS:C0263420"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007572",
- "lbl": "Hyperpigmented streaks",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1866245"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007573",
- "lbl": "Late onset atopic dermatitis",
- "meta": {
- "definition": {
- "val": "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.",
- "xrefs": [
- "PMID:23984225",
- "PMID:27904186"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Late onset baby eczema",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024843"
- },
- {
- "val": "UMLS:C4280439"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007574",
- "lbl": "Generalized bronze hyperpigmentation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised bronze hyperpigmentation"
- },
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Bronze skin",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2939074"
- },
- {
- "val": "UMLS:C4024842"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007576",
- "lbl": "Palmar neurofibromas",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024841"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007581",
- "lbl": "Mediosternal, longitudinal streak of hypopigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024840"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007583",
- "lbl": "Telangiectasia macularis eruptiva perstans",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:8214000"
- },
- {
- "val": "UMLS:C0263402"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007585",
- "lbl": "Skin fragility with non-scarring blistering",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1851562"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007586",
- "lbl": "Telangiectases producing 'marbled' skin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024839"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007587",
- "lbl": "Numerous pigmented freckles",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Numerous pigmented freckles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968565"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007588",
- "lbl": "Reticular hyperpigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007579"
- }
- ],
- "definition": {
- "val": "Increased pigmentation of the skin with a netlike (reticular) pattern.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Reticulate hyperpigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1851972"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007589",
- "lbl": "Aplasia cutis congenita on trunk or limbs",
- "meta": {
- "comments": [
- "In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs."
- ],
- "definition": {
- "val": "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1863496"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007590",
- "lbl": "Aplasia cutis congenita over posterior parietal area",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1863495"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007592",
- "lbl": "Aplasia/Hypoplastia of the eccrine sweat glands",
- "meta": {
- "definition": {
- "val": "Absence or developmental hypoplasia of the eccrine sweat glands.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic-absent eccrine sweat glands"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007595",
- "lbl": "Redundant skin in infancy",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Excess skin in infancy",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835587"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007596",
- "lbl": "Painful subcutaneous lipomas",
- "meta": {
- "definition": {
- "val": "The presence of multiple subcutaneous lipoma that cause pain.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Painful noncancerous fat tissue tumour under the skin"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Painful noncancerous fat tissue tumor under the skin",
- "xrefs": [
- "ORCID:0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024838"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007597",
- "lbl": "obsolete Congenital palmoplantar keratodermia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007545"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007598",
- "lbl": "Bilateral single transverse palmar creases",
- "meta": {
- "definition": {
- "val": "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1862095"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007599",
- "lbl": "Generalized reticulate brown pigmentation",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Generalised reticulate brown pigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024836"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007601",
- "lbl": "Midline facial capillary hemangioma",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1840310"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007602",
- "lbl": "Complex palmar dermatoglyphic pattern",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024835"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007603",
- "lbl": "Freckles in sun-exposed areas",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Freckles in sun-exposed areas"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859923"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007605",
- "lbl": "Excessive wrinkling of palmar skin",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007531"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Redundant, wrinkled skin of palms"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007606",
- "lbl": "Multiple cutaneous malignancies",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024834"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007607",
- "lbl": "Hypohidrotic ectodermal dysplasia",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D053358"
- },
- {
- "val": "SNOMEDCT_US:239007005"
- },
- {
- "val": "SNOMEDCT_US:7731005"
- },
- {
- "val": "UMLS:C0162359"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007608",
- "lbl": "Abnormal palmar dermal ridges",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024833"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007609",
- "lbl": "Hypoproteinemic edema",
- "meta": {
- "definition": {
- "val": "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Hypoproteinemic oedema"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024832"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007610",
- "lbl": "Blotching pigmentation of the skin",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024831"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007613",
- "lbl": "Spinous keratoses of palms and soles",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024830"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007616",
- "lbl": "Nevus flammeus nuchae",
- "meta": {
- "comments": [
- "The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area."
- ],
- "definition": {
- "val": "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.",
- "xrefs": [
- "HPO:sdoelken"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Port-wine stain on neck",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Stork bite",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Angel's kiss",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- },
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Salmon patch",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0860468"
- },
- {
- "val": "UMLS:C4024829"
- },
- {
- "val": "UMLS:C4280438"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007617",
- "lbl": "Fine, reticulate skin pigmentation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024828"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007618",
- "lbl": "Subcutaneous calcification",
- "meta": {
- "definition": {
- "val": "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Skin calcification"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:17141001"
- },
- {
- "val": "UMLS:C0263625"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007620",
- "lbl": "Cutaneous leiomyoma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007507"
- }
- ],
- "comments": [
- "Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin."
- ],
- "definition": {
- "val": "The presence of leiomyoma of the skin.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous leiomyomas"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Cutaneous leiomyomata"
- }
- ],
- "xrefs": [
- {
- "val": "NCIT:C3157"
- },
- {
- "val": "SNOMEDCT_US:254767008"
- },
- {
- "val": "UMLS:C0346064"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007621",
- "lbl": "Telangiectasia of extensor surfaces",
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- {
- "val": "UMLS:C4024827"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007623",
- "lbl": "Pigmentation anomalies of sun-exposed skin",
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- "ORCID:0000-0001-5208-3432"
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- {
- "val": "UMLS:C4024826"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007626",
- "lbl": "Mandibular osteomyelitis",
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- "definition": {
- "val": "Osteomyelitis of the lower jaw."
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lower jaw bone infection"
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- "pred": "hasExactSynonym",
- "val": "Osteomyelitis, especially of the mandible"
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- ],
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- "val": "SNOMEDCT_US:109695005"
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- "val": "UMLS:C1290708"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007627",
- "lbl": "Mandibular condyle aplasia",
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- "val": "UMLS:C0399570"
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- "val": "UMLS:C4280429"
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- {
- "val": "UMLS:C4280430"
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- {
- "val": "UMLS:C4280431"
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- "val": "UMLS:C4280432"
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- {
- "val": "UMLS:C4280433"
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- "val": "UMLS:C4280434"
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- {
- "val": "UMLS:C4280435"
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- {
- "val": "UMLS:C4280436"
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- "val": "UMLS:C4280437"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007628",
- "lbl": "Mandibular condyle hypoplasia",
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- "val": "Decreased size of mandibular condyle",
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- "val": "Hypoplasia of condylar process of mandible",
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- "pred": "hasExactSynonym",
- "val": "Hypoplasia of mandibular condyle",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplasia of subcondylar region of mandible",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Small mandibular condyle",
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- "val": "Hypoplasia of condylar head of mandible",
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- "val": "Hypoplasia of condylar neck of mandible",
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- "val": "Small condylar neck of mandible",
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- },
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- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic condylar process of mandible",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic mandibular condyle",
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- "ORCID:0000-0001-5889-4463"
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- }
- ],
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- "val": "SNOMEDCT_US:235120003"
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- {
- "val": "UMLS:C0399572"
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- {
- "val": "UMLS:C4280423"
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- {
- "val": "UMLS:C4280424"
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- {
- "val": "UMLS:C4280425"
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- {
- "val": "UMLS:C4280426"
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- {
- "val": "UMLS:C4280427"
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- {
- "val": "UMLS:C4280428"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007633",
- "lbl": "Bilateral microphthalmos",
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- "val": "HP:0001585"
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- "definition": {
- "val": "A developmental anomaly characterized by abnormal smallness of both eyes.",
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- "val": "Abnormally small eyeball on both sides",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Microphthalmia, bilateral"
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- "pred": "hasBroadSynonym",
- "val": "Decreased size of globes of eyes",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Bilateral nanophthalmos",
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- "xrefs": [
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- "val": "UMLS:C1843496"
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- "val": "UMLS:C4280421"
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- "val": "UMLS:C4280422"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007634",
- "lbl": "Nonarteritic anterior ischemic optic neuropathy",
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- "Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling."
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- "definition": {
- "val": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.",
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- "val": "Nonarteritic anterior ischaemic optic neuropathy"
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- ],
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- "val": "UMLS:C1852242"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007641",
- "lbl": "Dyschromatopsia",
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- "definition": {
- "val": "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.",
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Colour blindness"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Color blindness",
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- }
- ],
- "xrefs": [
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- "val": "UMLS:C0858618"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007642",
- "lbl": "Congenital stationary night blindness",
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- "val": "HP:0007861"
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- "val": "HP:0007953"
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- ],
- "comments": [
- "Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors."
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- "definition": {
- "val": "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.",
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- },
- "synonyms": [
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- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Night blindness since birth",
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- },
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- "val": "Congenital night blindness"
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- "pred": "hasExactSynonym",
- "val": "Static congenital hemeralopia"
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- "pred": "hasRelatedSynonym",
- "val": "Night blindness, congenital",
- "xrefs": [
- "HPO:skoehler"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Night blindness, congenital stationary",
- "xrefs": [
- "HPO:skoehler"
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- },
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- "pred": "hasRelatedSynonym",
- "val": "Night blindness, congenital stationary, complete",
- "xrefs": [
- "HPO:skoehler"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Night blindness, stationary",
- "xrefs": [
- "HPO:skoehler"
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- }
- ],
- "xrefs": [
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- "val": "MSH:C536122"
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- {
- "val": "MSH:C537743"
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- {
- "val": "SNOMEDCT_US:193687000"
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- {
- "val": "SNOMEDCT_US:232061009"
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- {
- "val": "UMLS:C0339535"
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- {
- "val": "UMLS:C1306122"
- },
- {
- "val": "UMLS:C3551052"
- },
- {
- "val": "UMLS:C4048798"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007643",
- "lbl": "Peripheral tractional retinal detachment",
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- "definition": {
- "val": "Tractional retinal detachment at the periphery of the retina."
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- "synonyms": [
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- "pred": "hasExactSynonym",
- "val": "Peripheral traction retinal detachment"
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- {
- "pred": "hasExactSynonym",
- "val": "Tractional retinal detachment at the periphery of the retina"
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- ],
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- "val": "UMLS:C4024825"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007646",
- "lbl": "Absent lower eyelashes",
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- "definition": {
- "val": "Lack of eyelashes on the lower lid.",
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- "HPO:probinson"
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- },
- "synonyms": [
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- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent lower eyelashes"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Failure of development of lower eyelashes",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Atrichia of lower eyelashes"
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- {
- "pred": "hasNarrowSynonym",
- "val": "Agenesis of lower eyelashes",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "val": "Aplasia of lower eyelashes",
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- {
- "val": "UMLS:C4024824"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007647",
- "lbl": "Congenital extraocular muscle anomaly",
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- "definition": {
- "val": "Congenital abnormality of the extraocular muscles.",
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- "val": "UMLS:C4024823"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007648",
- "lbl": "Punctate cataract",
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- "definition": {
- "val": "A type of cataract with punctate opacities of the lens.",
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- "pred": "hasRelatedSynonym",
- "val": "Punctate lenticular opacities"
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- "xrefs": [
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- "val": "SNOMEDCT_US:40714009"
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- {
- "val": "UMLS:C0271165"
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- {
- "val": "UMLS:C1969675"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007649",
- "lbl": "Congenital hypertrophy of retinal pigment epithelium",
- "meta": {
- "comments": [
- "This feature is found in around 3-5% of the population and is of no functional significance."
- ],
- "definition": {
- "val": "Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.",
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- "DDD:ncarter"
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- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:232074003"
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- {
- "val": "UMLS:C0339555"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007650",
- "lbl": "Progressive ophthalmoplegia",
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- {
- "val": "UMLS:C2062713"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007651",
- "lbl": "Ectropion of lower eyelids",
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- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lower eyelid folded out",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Lower eyelid turned out",
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Everted lower eyelids"
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- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:95758006"
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- {
- "val": "UMLS:C0521736"
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- {
- "val": "UMLS:C4020808"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007654",
- "lbl": "obsolete Retinal striation",
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- "deprecated": true
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007655",
- "lbl": "Eversion of lateral third of lower eyelids",
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- "val": "UMLS:C1835801"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007656",
- "lbl": "Lacrimal gland aplasia",
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- "definition": {
- "val": "A congenital defect of development characterized by absence of the lacrimal gland.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent tear gland",
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- "ORCID:0000-0001-5208-3432"
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- }
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- {
- "val": "UMLS:C4024822"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007657",
- "lbl": "Diffuse nuclear cataract",
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- "definition": {
- "val": "Opacity of the entire lens nucleus.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4024821"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007658",
- "lbl": "Large hyperpigmented retinal spots",
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- "xrefs": [
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- "val": "UMLS:C4024820"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007659",
- "lbl": "obsolete Decreased retinal pigmentation with dispersion",
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- "id": "http://purl.obolibrary.org/obo/HP_0007661",
- "lbl": "Abnormality of chorioretinal pigmentation",
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- "val": "UMLS:C4024819"
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- },
- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007663",
- "lbl": "Reduced visual acuity",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Decreased central vision"
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased visual acuity"
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- {
- "pred": "hasExactSynonym",
- "val": "Poor visual acuity"
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- "val": "SNOMEDCT_US:13164000"
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- "val": "UMLS:C0234632"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007665",
- "lbl": "Curly eyelashes",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007667",
- "lbl": "Peripheral cystoid retinal degeneration",
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- "val": "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.",
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- "ORCID:0000-0003-0986-4123"
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- "val": "Cystic retinal degeneration"
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- {
- "pred": "hasExactSynonym",
- "val": "Peripheral cystoid degeneration"
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- "val": "UMLS:C1839362"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007668",
- "lbl": "Impaired pursuit initiation and maintenance",
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- {
- "val": "UMLS:C1969722"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007670",
- "lbl": "Abnormal vestibulo-ocular reflex",
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- "definition": {
- "val": "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.",
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- "HPO:probinson",
- "PMID:3625219"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormal vestibuloocular reflex"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021571"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007675",
- "lbl": "Progressive night blindness",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressive night blindness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024818"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007676",
- "lbl": "Hypoplasia of the iris",
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- "val": "HP:0007998"
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- ],
- "definition": {
- "val": "Congenital underdevelopment of the iris.",
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- "HPO:probinson"
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- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
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- "val": "Underdeveloped iris",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic iris"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Iris hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95714006"
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- {
- "val": "UMLS:C0344539"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007677",
- "lbl": "Vitelliform-like macular lesions",
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- "definition": {
- "val": "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.",
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- "DDD:gblack",
- "PMID:18289629"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Vitelliform macular lesions"
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- {
- "pred": "hasRelatedSynonym",
- "val": "Vitelliform macular dystrophy"
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- ],
- "xrefs": [
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- "val": "MSH:D057826"
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- "val": "SNOMEDCT_US:90036004"
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- {
- "val": "UMLS:C0339510"
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- "val": "UMLS:C4024817"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007678",
- "lbl": "Lacrimal duct stenosis",
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- "val": "Narrowing of a tear duct (lacrimal duct).",
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- "HPO:probinson"
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- },
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- {
- "pred": "hasExactSynonym",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Nasolacrimal duct stenosis"
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- "val": "SNOMEDCT_US:231841004"
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- {
- "val": "UMLS:C0238300"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007680",
- "lbl": "Depigmented fundus",
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- "val": "UMLS:C4024816"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007685",
- "lbl": "Peripheral retinal avascularization",
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- "val": "UMLS:C1851406"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007686",
- "lbl": "Abnormal pupillary function",
- "meta": {
- "comments": [
- "It is preferable to describe the functional defect precisely."
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- "definition": {
- "val": "A functional abnormality of the pupil.",
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- "HPO:probinson"
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- },
- "xrefs": [
- {
- "val": "MSH:D011681"
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- {
- "val": "SNOMEDCT_US:72124005"
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- "val": "UMLS:C0917967"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007687",
- "lbl": "Unilateral ptosis",
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- "definition": {
- "val": "A unilateral form of ptosis.",
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- },
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- "pred": "hasExactSynonym",
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- "val": "Dropping of one upper eyelid",
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- }
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- "val": "UMLS:C1866806"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007688",
- "lbl": "Undetectable light- and dark-adapted electroretinogram",
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- "definition": {
- "val": "Absence of the combined rod-and-cone response on electroretinogram.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absent cone and rod functions by electroretinogram"
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- {
- "pred": "hasExactSynonym",
- "val": "Absent rod-and cone-mediated responses on ERG"
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- ],
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- "val": "UMLS:C4021570"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007690",
- "lbl": "Map-dot-fingerprint corneal dystrophy",
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- "val": "SNOMEDCT_US:32935005"
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- "val": "UMLS:C0271285"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007691",
- "lbl": "obsolete Short curly eyelashes",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007692",
- "lbl": "obsolete Nonnuclear polymorphic congenital cataract",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007695",
- "lbl": "Abnormal pupillary light reflex",
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- "definition": {
- "val": "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007697",
- "lbl": "Hypoplasia of the lower eyelids",
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- "definition": {
- "val": "Underdevelopment of the lower eyelid.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Small lower eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Decreased size of lower eyelid",
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- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdevelopment of lower eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasNarrowSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Short lower eyelid",
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- "ORCID:0000-0001-5889-4463"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Hypotrophic lower eyelid",
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- "ORCID:0000-0001-5889-4463"
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- "val": "UMLS:C4024814"
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- {
- "val": "UMLS:C4280270"
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- "type": "CLASS"
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- "lbl": "obsolete Retinal pigment epithelial atrophy",
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- "type": "CLASS"
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- "lbl": "Ocular anterior segment dysgenesis",
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- "comments": [
- "In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures."
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- "definition": {
- "val": "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.",
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- },
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- "pred": "hasExactSynonym",
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- "pred": "hasExactSynonym",
- "val": "Anterior chamber malformation"
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
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- {
- "pred": "hasExactSynonym",
- "val": "Anterior segment dysgenesis"
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- {
- "pred": "hasExactSynonym",
- "val": "Anterior segment mesencyhmal dysgenesis"
- },
- {
- "pred": "hasExactSynonym",
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- "val": "UMLS:C0266525"
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- "lbl": "obsolete Pigmentary retinal deposits",
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- "type": "CLASS"
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- "synonyms": [
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- "val": "Abnormal retinal pigmentation"
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- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of RPE"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of retinal pigment epithelium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigmentary anomaly"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormality of the retinal pigment epithelium"
- }
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- {
- "val": "UMLS:C1720508"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007704",
- "lbl": "Paroxysmal involuntary eye movements",
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- },
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- {
- "pred": "hasExactSynonym",
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- "type": "CLASS"
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- {
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- "lbl": "Corneal degeneration",
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- "val": "UMLS:C0155118"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007707",
- "lbl": "Congenital aphakia",
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- "val": "Absence of the crystalline lens of the eye as a result of a developmental defect.",
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "UMLS:C1853230"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007708",
- "lbl": "Absent inner eyelashes",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007709",
- "lbl": "Band-shaped corneal dystrophy",
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- "val": "A type of genetically determined disease of the cornea with corneal lesions with a band-like shape."
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- "val": "MSH:C562399"
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- {
- "val": "SNOMEDCT_US:35055000"
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- "type": "CLASS"
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- "lbl": "Peripheral vitreous opacities",
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- "type": "CLASS"
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- "lbl": "obsolete Choroidal dystrophy",
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- "lbl": "obsolete Juvenile zonular cataracts",
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- "lbl": "Weak extraocular muscles",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007716",
- "lbl": "Uveal melanoma",
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- "comments": [
- "WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid."
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- "definition": {
- "val": "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).",
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- "HPO:curators"
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- },
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- "pred": "hasExactSynonym",
- "val": "Intraocular melanoma"
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- ],
- "xrefs": [
- {
- "val": "MSH:C536494"
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- {
- "val": "NCIT:C3224"
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- {
- "val": "UMLS:C0220633"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007717",
- "lbl": "Chronic irritative conjunctivitis",
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- "definition": {
- "val": "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.",
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- },
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007720",
- "lbl": "Flat cornea",
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- "definition": {
- "val": "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.",
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- {
- "pred": "hasExactSynonym",
- "val": "Cornea plana"
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- ],
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- {
- "val": "SNOMEDCT_US:204145006"
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- {
- "val": "UMLS:C0344529"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007721",
- "lbl": "Saccular conjunctival dilatations",
- "meta": {
- "definition": {
- "val": "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasNarrowSynonym",
- "val": "Saccular conjunctival aneurysms"
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- ],
- "xrefs": [
- {
- "val": "UMLS:C3277464"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007722",
- "lbl": "Retinal pigment epithelial atrophy",
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- "definition": {
- "val": "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007727",
- "lbl": "Opacification of the corneal epithelium",
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- "definition": {
- "val": "Lack of transparency of the corneal epithelium.",
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- "DDD:gblack"
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- "pred": "hasExactSynonym",
- "val": "Superficial corneal opacities"
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- "val": "UMLS:C1849198"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007728",
- "lbl": "Congenital miosis",
- "meta": {
- "definition": {
- "val": "Abnormal (non-physiological) constriction of the pupil of congenital onset.",
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- "val": "MSH:C537550"
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- "val": "SNOMEDCT_US:400962005"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007730",
- "lbl": "Iris hypopigmentation",
- "meta": {
- "definition": {
- "val": "An abnormal reduction in the amount of pigmentation of the iris.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Light eye colour"
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Light eye color",
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced iris pigmentation"
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- ],
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- "val": "SNOMEDCT_US:247032003"
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- {
- "val": "SNOMEDCT_US:70397008"
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- "val": "UMLS:C0154920"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007731",
- "lbl": "Chorioretinal dysplasia",
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- "definition": {
- "val": "Abnormal development of the choroid and retina.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C4024809"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007732",
- "lbl": "Lacrimal gland hypoplasia",
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- "definition": {
- "val": "Underdevelopment of the lacrimal gland.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- "val": "Underdeveloped tear gland",
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- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic lacrimal gland"
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- {
- "val": "UMLS:C1863200"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007733",
- "lbl": "Laterally curved eyebrow",
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- {
- "val": "UMLS:C1846266"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007734",
- "lbl": "Enlarged lacrimal glands",
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- "definition": {
- "val": "Abnormally big lacrimal glands.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
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- {
- "val": "UMLS:C1867030"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007736",
- "lbl": "obsolete Pericentral retinal dystrophy",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007737",
- "lbl": "Bone spicule pigmentation of the retina",
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- "val": "HP:0007683"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007823"
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- ],
- "definition": {
- "val": "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Bone corpuscle fundus pigmentation"
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- {
- "pred": "hasExactSynonym",
- "val": "Fundus with peripheral bony spicules"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal bone corpuscle pigmentation"
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- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigmented bone spicules"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Retinal 'bone corpuscle' pigmentation",
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- "HPO:skoehler"
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- }
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- "xrefs": [
- {
- "val": "UMLS:C1836926"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007738",
- "lbl": "Uncontrolled eye movements",
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- "val": "UMLS:C1854686"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007739",
- "lbl": "obsolete Mildly reduced visual acuity",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007740",
- "lbl": "Long eyelashes in irregular rows",
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- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long eyelashes in irregular rows"
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- "val": "UMLS:C1850640"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007744",
- "lbl": "obsolete Iridoretinal coloboma",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007747",
- "lbl": "Monocular horizontal nystagmus",
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- "val": "UMLS:C4024807"
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- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007748",
- "lbl": "obsolete Irido-fundal coloboma",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007750",
- "lbl": "Hypoplasia of the fovea",
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- "comments": [
- "A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea."
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- "val": "Underdevelopment of the fovea centralis.",
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- {
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007754",
- "lbl": "Macular dystrophy",
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- "definition": {
- "val": "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007755",
- "lbl": "Juvenile epithelial corneal dystrophy",
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007756",
- "lbl": "obsolete Slitlike anterior chamber angles in children",
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- "type": "CLASS"
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- "lbl": "obsolete Hypoplasia of choroid",
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- "lbl": "obsolete Congenital visual impairment",
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007759",
- "lbl": "Opacification of the corneal stroma",
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- "val": "HP:0007966"
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- "definition": {
- "val": "Reduced transparency of the stroma of cornea.",
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- "pred": "hasExactSynonym",
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- "lbl": "Pericentral scotoma",
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- "lbl": "Retinal telangiectasia",
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- "val": "Dilatation of small blood vessels of the retina.",
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- "lbl": "Deep anterior chamber",
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- "Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos."
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- "definition": {
- "val": "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.",
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- "definition": {
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- "val": "SNOMEDCT_US:61536007"
- },
- {
- "val": "UMLS:C1320640"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007770",
- "lbl": "Hypoplasia of the retina",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped retina",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal hypoplasia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1854685"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007772",
- "lbl": "Impaired smooth pursuit",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008029"
- }
- ],
- "definition": {
- "val": "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Abnormal visual pursuit"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of visual tracking",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Impairment of visual pursuit",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837458"
- },
- {
- "val": "UMLS:C1848530"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007773",
- "lbl": "Vitreoretinopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0000655"
- }
- ],
- "definition": {
- "val": "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.",
- "xrefs": [
- "HPO:probinson",
- "ORCID:0000-0003-0986-4123",
- "PMID:18179896"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Vitreoretinal abnormality"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vitreoretinal degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850109"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007774",
- "lbl": "Hypoplasia of the ciliary body",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the ciliary body.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1836890"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007776",
- "lbl": "Sparse lower eyelashes",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007785"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Scanty lower eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Sparse lower eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Thin lower eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Partial absence of lower eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Hypotrichosis of lower eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835148"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007777",
- "lbl": "Chorioretinal scar",
- "meta": {
- "definition": {
- "val": "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye."
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:53854005"
- },
- {
- "val": "UMLS:C0008512"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007778",
- "lbl": "Posterior retinal neovascularization",
- "meta": {
- "definition": {
- "val": "A type of retinal neovascularization that affects the posterior pole of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Neovascularization of peripheral and posterior retina"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Posterior retinal neovascularisation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024803"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007779",
- "lbl": "Anterior segment of eye aplasia",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1853234"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007780",
- "lbl": "Cortical pulverulent cataract",
- "meta": {
- "definition": {
- "val": "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cataracts, cortical pulverulent"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007782",
- "lbl": "obsolete Peripheral retinal cone degeneration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007769"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007783",
- "lbl": "obsolete Butterfly retinal pigment epithelial dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000556"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007786",
- "lbl": "obsolete Lacunar retinal depigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0007858"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007787",
- "lbl": "Posterior subcapsular cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007666"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007857"
- }
- ],
- "definition": {
- "val": "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Posterior subcapsular opacities of the lens"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Posterior subcapsular cataracts",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:315353005"
- },
- {
- "val": "UMLS:C0858617"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007791",
- "lbl": "Patchy atrophy of the retinal pigment epithelium",
- "meta": {
- "definition": {
- "val": "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas."
- },
- "xrefs": [
- {
- "val": "UMLS:C4024800"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007792",
- "lbl": "Microsaccadic pursuit",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843892"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007793",
- "lbl": "Granular macular appearance",
- "meta": {
- "definition": {
- "val": "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Macular retinal pigment epithelial mottling"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024799"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007795",
- "lbl": "Anterior cortical cataract",
- "meta": {
- "definition": {
- "val": "A cataract that affects the anterior part of the cortex of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1857308"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007797",
- "lbl": "Retinal vascular malformation",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1861791"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007798",
- "lbl": "obsolete Foveal dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000493"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007799",
- "lbl": "Conjunctival whitish salt-like deposits",
- "meta": {
- "definition": {
- "val": "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1968901"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007800",
- "lbl": "Increased axial length of the globe",
- "meta": {
- "definition": {
- "val": "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased front to back length of eyeball",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Globe elongated"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased axial globe length"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835117"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007801",
- "lbl": "obsolete Fishnet retinal pigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0007703"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007802",
- "lbl": "Granular corneal dystrophy",
- "meta": {
- "definition": {
- "val": "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D003317"
- },
- {
- "val": "SNOMEDCT_US:45283008"
- },
- {
- "val": "UMLS:C0018179"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007803",
- "lbl": "Monochromacy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007954"
- }
- ],
- "comments": [
- "Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey."
- ],
- "definition": {
- "val": "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.",
- "xrefs": [
- "DDD:gblack"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Total colorblindness",
- "xrefs": [
- "HPO:skoehler"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Complete achromatopsia"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C536128"
- },
- {
- "val": "MSH:D003117"
- },
- {
- "val": "SNOMEDCT_US:56852002"
- },
- {
- "val": "UMLS:C0152200"
- },
- {
- "val": "UMLS:C1857618"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007807",
- "lbl": "Optic nerve compression",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008495"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:72983001"
- },
- {
- "val": "UMLS:C0271344"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007808",
- "lbl": "obsolete Bilateral retinal coloboma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000480"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007809",
- "lbl": "Punctate corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024796"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007810",
- "lbl": "obsolete Progressive bifocal chorioretinal atrophy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000533"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007811",
- "lbl": "Horizontal pendular nystagmus",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0200069"
- }
- ],
- "comments": [
- "Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other."
- ],
- "definition": {
- "val": "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866180"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007812",
- "lbl": "Herpetiform corneal ulceration",
- "meta": {
- "definition": {
- "val": "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Dendritic corneal epithelial ulcer"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Herpetiform corneal ulcers"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4020911"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007813",
- "lbl": "Nongranulomatous uveitis",
- "meta": {
- "definition": {
- "val": "A form of uveitis that is not associated with the formation of granulomas.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024795"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007814",
- "lbl": "Retinal pigment epithelial mottling",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0001124"
- }
- ],
- "definition": {
- "val": "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "RPE irregularity"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "RPE mottling"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Focal hypopigmentation of the retinal pigment epithelium"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal pigment epithelium irregularity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Salt and pepper retinal pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Salt and pepper retinopathy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1857644"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007815",
- "lbl": "Abnormal distribution of retinal arterioles and venules",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C3277463"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007817",
- "lbl": "Horizontal supranuclear gaze palsy",
- "meta": {
- "definition": {
- "val": "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024794"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007818",
- "lbl": "Central heterochromia",
- "meta": {
- "definition": {
- "val": "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Ring iris heterochromia"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021567"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007819",
- "lbl": "Presenile cataracts",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007848"
- }
- ],
- "comments": [
- "Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age."
- ],
- "definition": {
- "val": "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.",
- "xrefs": [
- "HPO:probinson",
- "PMID:17030721"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Presenile cataract"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:441622000"
- },
- {
- "val": "UMLS:C0154971"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007820",
- "lbl": "Lacrimal punctal atresia",
- "meta": {
- "definition": {
- "val": "Congenital absence or closure of the opening of the lacrimal punctum.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Atretic lacrimal puncta"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Atretic lacrimal punctum"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1863201"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007822",
- "lbl": "Central retinal exudate",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024793"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007824",
- "lbl": "Total ophthalmoplegia",
- "meta": {
- "definition": {
- "val": "Paralysis of both the extrinsic and intrinsic ocular muscles.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Complete ophthalmoplegia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Global paralysis of gaze"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Total internal and external ophthalmoplegia"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:78097002"
- },
- {
- "val": "UMLS:C0155338"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007825",
- "lbl": "obsolete Cataracts develop in second or third decade",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000518"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007827",
- "lbl": "Nodular corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024792"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007829",
- "lbl": "obsolete Diffuse retinal cone degeneration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000546"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007830",
- "lbl": "Adult-onset night blindness",
- "meta": {
- "definition": {
- "val": "Inability to see well at night or in poor light with onset in adulthood.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Adult-onset night blindness"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024790"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007831",
- "lbl": "Nonprogressive restrictive external ophthalmoplegia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007682"
- }
- ],
- "definition": {
- "val": "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024789"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007832",
- "lbl": "Pigmentation of the sclera",
- "meta": {
- "synonyms": [
- {
- "pred": "hasBroadSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Pigmentation of the outer white part of the eyeball",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1859882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007833",
- "lbl": "Anterior chamber synechiae",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024788"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007834",
- "lbl": "Progressive cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007828"
- }
- ],
- "definition": {
- "val": "A kind of cataract that progresses with age.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cataract, progressive"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021566"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007835",
- "lbl": "S-shaped palpebral fissures",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "S-shaped eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "S-shaped opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024787"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007836",
- "lbl": "Mosaic corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024786"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007838",
- "lbl": "Progressive ptosis",
- "meta": {
- "definition": {
- "val": "A progressive form of ptosis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Progressive drooping of upper eyelid",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834015"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007840",
- "lbl": "Long upper eyelashes",
- "meta": {
- "definition": {
- "val": "Increased length of the upper eyelashes.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Long upper eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Increased length of upper eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ciliary trichomegaly of upper eyelashes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024785"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007841",
- "lbl": "Amyloid deposition in the vitreous humor",
- "meta": {
- "definition": {
- "val": "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Amyloid deposition in the vitreous humour"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Vitreous amyloid deposits"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024784"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007843",
- "lbl": "Attenuation of retinal blood vessels",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Narrowing of blood vessels in back of eye",
- "xrefs": [
- "https://orcid.org/0000-0002-6548-5200"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3278975"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007850",
- "lbl": "Retinal vascular proliferation",
- "meta": {
- "xrefs": [
- {
- "val": "MSH:D015861"
- },
- {
- "val": "SNOMEDCT_US:61267008"
- },
- {
- "val": "UMLS:C0035320"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007851",
- "lbl": "obsolete Temporal displacement of maculae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0001103"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007852",
- "lbl": "obsolete Pericentral pigmentary retinopathy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000580"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007854",
- "lbl": "Glaucomatous visual field defect",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:370961005"
- },
- {
- "val": "UMLS:C1299694"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007856",
- "lbl": "Punctate opacification of the cornea",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008004"
- }
- ],
- "definition": {
- "val": "Punctate opacification (reduced transparency) of the corneal stroma.",
- "xrefs": [
- "DDD:gblack"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Punctate corneal opacities"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021565"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007858",
- "lbl": "Chorioretinal lacunae",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007786"
- }
- ],
- "comments": [
- "A chorioretinal lacuna can have the appearance of a pseudodisk in the retina."
- ],
- "definition": {
- "val": "Punched out lesions in the pigmented layer of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Lacunar retinal depigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1844751"
- },
- {
- "val": "UMLS:C4072866"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007859",
- "lbl": "Congenital horizontal nystagmus",
- "meta": {
- "definition": {
- "val": "Horizontal nystagmus dating from or present at birth.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nystagmus, congenital horizontal"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866180"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007862",
- "lbl": "Retinal calcification",
- "meta": {
- "definition": {
- "val": "Deposition of calcium salts in the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1867289"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007866",
- "lbl": "Retinal infarction",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C0281967"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007867",
- "lbl": "Restrictive partial external ophthalmoplegia",
- "meta": {
- "definition": {
- "val": "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024781"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007868",
- "lbl": "obsolete Age-related macular degeneration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000608"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007869",
- "lbl": "obsolete Peripheral retinopathy",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007872",
- "lbl": "Choroidal hemangioma",
- "meta": {
- "comments": [
- "Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic."
- ],
- "definition": {
- "val": "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "NCIT:C3086"
- },
- {
- "val": "SNOMEDCT_US:255022003"
- },
- {
- "val": "UMLS:C0346390"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007873",
- "lbl": "Abnormally prominent line of Schwalbe",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007940"
- }
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Prominent Schwalbe lines"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1862376"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007874",
- "lbl": "Almond-shaped palpebral fissure",
- "meta": {
- "comments": [
- "The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow."
- ],
- "definition": {
- "val": "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.",
- "xrefs": [
- "PMID:19125427"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Almond shaped eyes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Almond-shaped opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024780"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007875",
- "lbl": "Congenital blindness",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007706"
- }
- ],
- "definition": {
- "val": "Blindness with onset at birth.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blindness present at birth",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital amaurosis"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95486002"
- },
- {
- "val": "UMLS:C0005754"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007876",
- "lbl": "obsolete Juvenile cortical cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0100019"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007879",
- "lbl": "Allergic conjunctivitis",
- "meta": {
- "definition": {
- "val": "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D003233"
- },
- {
- "val": "SNOMEDCT_US:231854006"
- },
- {
- "val": "SNOMEDCT_US:473460002"
- },
- {
- "val": "UMLS:C0009766"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007880",
- "lbl": "Marginal corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024779"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007881",
- "lbl": "Central corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024778"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007885",
- "lbl": "Slowed horizontal saccades",
- "meta": {
- "comments": [
- "Saccades are rapid eye movements that align the fovea with the target."
- ],
- "definition": {
- "val": "An abnormally slow velocity of horizontal saccadic eye movements.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1856477"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007886",
- "lbl": "Absent extraocular muscles",
- "meta": {
- "definition": {
- "val": "Congenital absence of the extraocular muscles.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Missing eye muscles",
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- "ORCID:0000-0001-6908-9849"
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- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Absent ocular muscles"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1408781"
- },
- {
- "val": "UMLS:C4024777"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007889",
- "lbl": "Iridescent posterior subcapsular cataract",
- "meta": {
- "definition": {
- "val": "A type of posterior subcapsular cataract characterized by an iridescent color.",
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- "HPO:probinson",
- "PMID:7826272"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cataracts, posterior, subcapsular, iridescent"
- }
- ],
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- {
- "val": "UMLS:C1864573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007892",
- "lbl": "Hypoplasia of the lacrimal punctum",
- "meta": {
- "definition": {
- "val": "Underdevelopment of the lacrimal puncta.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Hypoplasia of the lacrimal puncta"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#plural_form",
- "val": "Hypoplastic lacrimal puncta"
- }
- ],
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- {
- "val": "UMLS:C4021564"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007893",
- "lbl": "obsolete Progressive retinal degeneration",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007894",
- "lbl": "Hypopigmentation of the fundus",
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- "val": "HP:0007752"
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- ],
- "definition": {
- "val": "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).",
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- {
- "pred": "hasExactSynonym",
- "val": "Decreased fundus pigmentation"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Fundus hypopigmentation"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:95694000"
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- {
- "val": "UMLS:C0151891"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007898",
- "lbl": "Exudative retinopathy",
- "meta": {
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- {
- "val": "MSH:D058456"
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- {
- "val": "SNOMEDCT_US:25506007"
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- "val": "SNOMEDCT_US:360455002"
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- "val": "UMLS:C0154832"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007899",
- "lbl": "Retinal nonattachment",
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- ],
- "definition": {
- "val": "Failure of attachment of the retina during development.",
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- "HPO:probinson",
- "PMID:21441919"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Congenital retinal non-attachment"
- }
- ],
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- "val": "UMLS:C4021563"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007900",
- "lbl": "Hypoplastic lacrimal duct",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Underdeveloped tear duct",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1968574"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007901",
- "lbl": "obsolete Retinal malformation",
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- "val": "HP:0000479"
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- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007902",
- "lbl": "Vitreous hemorrhage",
- "meta": {
- "comments": [
- "The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others."
- ],
- "definition": {
- "val": "Bleeding within the vitreous compartment of the eye.",
- "xrefs": [
- "DDD:akelly",
- "PMID:16882398"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
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- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Vitreous haemorrhage"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D014823"
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- {
- "val": "SNOMEDCT_US:31341008"
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- {
- "val": "UMLS:C0042909"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007903",
- "lbl": "Paravenous chorioretinal atrophy",
- "meta": {
- "definition": {
- "val": "Chorioretinal atrophy along the retinal veins.",
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- "HPO:probinson",
- "PMID:15623792"
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- },
- "xrefs": [
- {
- "val": "UMLS:C4072868"
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- ]
- },
- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007905",
- "lbl": "Abnormal iris vasculature",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of iris blood vessels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C3275963"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007906",
- "lbl": "Ocular hypertension",
- "meta": {
- "definition": {
- "val": "Intraocular pressure that is 2 standard deviations above the population mean."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Elevated IOP"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Increased IOP"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Raised IOP"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "High eye pressure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Elevated intraocular pressure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Increased intraocular pressure"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Raised intraocular pressure"
- }
- ],
- "xrefs": [
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- "val": "SNOMEDCT_US:112222000"
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- "val": "UMLS:C0234708"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007910",
- "lbl": "obsolete Nonprogressive congenital retinal dystrophy",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007911",
- "lbl": "Congenital bilateral ptosis",
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- "val": "HP:0007955"
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- "synonyms": [
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- "pred": "hasExactSynonym",
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- "val": "Congenital drooping of both upper eyelids",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
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- },
- {
- "pred": "hasExactSynonym",
- "val": "Ptosis, bilateral congenital"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Ptosis, congenital bilateral"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1836264"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007913",
- "lbl": "Reticular retinal dystrophy",
- "meta": {
- "definition": {
- "val": "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation."
- },
- "xrefs": [
- {
- "val": "UMLS:C4024776"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007915",
- "lbl": "Polymorphous posterior corneal dystrophy",
- "meta": {
- "definition": {
- "val": "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.",
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- "val": "MSH:C562745"
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- "val": "SNOMEDCT_US:29504002"
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- "val": "UMLS:C0339284"
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- "type": "CLASS"
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- "id": "http://purl.obolibrary.org/obo/HP_0007916",
- "lbl": "obsolete Small anterior lens surface opacities",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007917",
- "lbl": "Tractional retinal detachment",
- "meta": {
- "definition": {
- "val": "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.",
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- "HPO:probinson",
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- },
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- "val": "UMLS:C1866178"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007920",
- "lbl": "obsolete Congenital chorioretinal dystrophy",
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- "val": "HP:0001135"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007922",
- "lbl": "Hypermyelinated retinal nerve fibers",
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- "val": "Hypermyelinated retinal nerve fibres"
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- {
- "pred": "hasExactSynonym",
- "val": "Retinal striation"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C1849151"
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007923",
- "lbl": "obsolete Foveal hyperplasia",
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- "val": "HP:0000493"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007924",
- "lbl": "Slow decrease in visual acuity",
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- "val": "HP:0007652"
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- "val": "Slow decrease in sharpness of vision",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Subacute deterioration of visual acuity"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Decreased visual acuity, slowly progressive",
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- "HPO:skoehler"
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- "val": "UMLS:C1853141"
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- "val": "UMLS:C3278981"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007925",
- "lbl": "Lacrimal duct aplasia",
- "meta": {
- "definition": {
- "val": "A congenital defect resulting in absence of the lacrimal duct.",
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- {
- "pred": "hasExactSynonym",
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- "val": "Absent tear duct",
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007928",
- "lbl": "Abnormal flash visual evoked potentials",
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- "definition": {
- "val": "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.",
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- "HPO:probinson"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007929",
- "lbl": "Peripheral retinal detachment",
- "meta": {
- "definition": {
- "val": "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina."
- },
- "xrefs": [
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- "val": "UMLS:C4024771"
- }
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007930",
- "lbl": "obsolete Prominent epicanthal folds",
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- "val": "HP:0000286"
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- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007932",
- "lbl": "Bilateral congenital mydriasis",
- "meta": {
- "definition": {
- "val": "Congenital abnormal dilation of the pupil on both sides.",
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- "HPO:probinson"
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- },
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- "val": "UMLS:C4024770"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007933",
- "lbl": "Broad lateral eyebrow",
- "meta": {
- "definition": {
- "val": "Regional increase in the width (height) of the lateral eyebrow.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- "val": "Wide lateral eyebrow",
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- "ORCID:0000-0001-5889-4463"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007935",
- "lbl": "Juvenile posterior subcapsular lenticular opacities",
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- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007936",
- "lbl": "Restrictive external ophthalmoplegia",
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- "val": "HP:0007959"
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- "definition": {
- "val": "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.",
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- {
- "pred": "hasRelatedSynonym",
- "val": "Restrictive external ophthalmoplegia, bilateral"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007937",
- "lbl": "Reticular pigmentary degeneration",
- "meta": {
- "definition": {
- "val": "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.",
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- "HPO:fprobst",
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- "synonyms": [
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- "val": "Fishnet retinal pigmentation"
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- {
- "pred": "hasExactSynonym",
- "val": "Honeycomb retinal degeneration"
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- ],
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007939",
- "lbl": "Blue cone monochromacy",
- "meta": {
- "definition": {
- "val": "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.",
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- "HPO:probinson"
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- },
- "synonyms": [
- {
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- {
- "pred": "hasExactSynonym",
- "val": "Incomplete achromatopsia"
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- {
- "pred": "hasExactSynonym",
- "val": "S-cone monochromacy"
- }
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- "val": "SNOMEDCT_US:24704003"
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- "val": "UMLS:C0339537"
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- "type": "CLASS"
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- {
- "id": "http://purl.obolibrary.org/obo/HP_0007941",
- "lbl": "Limited extraocular movements",
- "meta": {
- "definition": {
- "val": "Limited mobility of the eye within its socket."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Limited extraocular movement"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1858427"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007942",
- "lbl": "Internal ophthalmoplegia",
- "meta": {
- "comments": [
- "Paralysis of the internal ocular muscles, the iris and ciliary apparatus."
- ],
- "definition": {
- "val": "Paralysis of the iris and ciliary apparatus.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:D009886"
- },
- {
- "val": "SNOMEDCT_US:232146005"
- },
- {
- "val": "UMLS:C0339693"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007943",
- "lbl": "Congenital stapes ankylosis",
- "meta": {
- "definition": {
- "val": "A form of stapes ankylosis with congenital onset.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1866657"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007944",
- "lbl": "Intermittent microsaccadic pursuits",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024768"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007945",
- "lbl": "obsolete Choroidal degeneration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0200065"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007946",
- "lbl": "Unilateral narrow palpebral fissure",
- "meta": {
- "definition": {
- "val": "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Unequal size of opening between the eyelids",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow palpebral fissure, unilateral"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1866805"
- },
- {
- "val": "UMLS:C4280419"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007947",
- "lbl": "Pericentral retinitis pigmentosa",
- "meta": {
- "definition": {
- "val": "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.",
- "xrefs": [
- "ORCID:0000-0003-0986-4123",
- "PMID:28981474"
- ]
- },
- "xrefs": [
- {
- "val": "MSH:C564838"
- },
- {
- "val": "UMLS:C1849398"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007948",
- "lbl": "Dense posterior cortical cataract",
- "meta": {
- "definition": {
- "val": "A type of posterior cortical cataract characterized by dense lenticular opacities.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024767"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007949",
- "lbl": "obsolete Progressive macular scarring",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007950",
- "lbl": "Peripapillary chorioretinal atrophy",
- "meta": {
- "definition": {
- "val": "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024765"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007956",
- "lbl": "obsolete Bilateral choroid coloboma",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000567"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007957",
- "lbl": "Corneal opacity",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007844"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007883"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008502"
- }
- ],
- "definition": {
- "val": "A reduction of corneal clarity.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Corneal clouding"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Corneal opacities"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduction of corneal clarity"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Scarring or clouding of the cornea of the eye"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D003318"
- },
- {
- "val": "SNOMEDCT_US:413921009"
- },
- {
- "val": "SNOMEDCT_US:64634000"
- },
- {
- "val": "SNOMEDCT_US:95735008"
- },
- {
- "val": "UMLS:C0010038"
- },
- {
- "val": "UMLS:C0521719"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007958",
- "lbl": "Optic atrophy from cranial nerve compression",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024763"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007961",
- "lbl": "obsolete Rarefaction of retinal pigmentation",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000580"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007962",
- "lbl": "Speckled corneal dystrophy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4021857"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007963",
- "lbl": "Pattern dystrophy of the retina",
- "meta": {
- "definition": {
- "val": "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).",
- "xrefs": [
- "ORCID:0000-0003-0986-4123"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024762"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007964",
- "lbl": "Degenerative vitreoretinopathy",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1843486"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007965",
- "lbl": "Undetectable visual evoked potentials",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Absence of visual evoked potentials"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Non-detectable VEP"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Undetectable VEP"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1850069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007968",
- "lbl": "Remnants of the hyaloid vascular system",
- "meta": {
- "definition": {
- "val": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Persistent foetal vasculature"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#uk_spelling",
- "val": "Persistent posterior foetal fibrovascular sheath of the lens"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Congenital retinal septum"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent hyperplasia of primary vitreous"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent hyperplastic primary vitreous"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent hypertrophic primary vitreous"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent posterior fetal fibrovascular sheath of the lens"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent tunica vasculosa lentis"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Persistent fetal vasculature",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D054514"
- },
- {
- "val": "SNOMEDCT_US:314270008"
- },
- {
- "val": "SNOMEDCT_US:44647001"
- },
- {
- "val": "SNOMEDCT_US:69927002"
- },
- {
- "val": "UMLS:C0266568"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007970",
- "lbl": "Congenital ptosis",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Congenital drooping upper eyelid",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:268163008"
- },
- {
- "val": "SNOMEDCT_US:61989004"
- },
- {
- "val": "UMLS:C0266573"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007971",
- "lbl": "Lamellar cataract",
- "meta": {
- "definition": {
- "val": "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:204128001"
- },
- {
- "val": "SNOMEDCT_US:21590003"
- },
- {
- "val": "UMLS:C0266537"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007973",
- "lbl": "Retinal dysplasia",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007901"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008022"
- }
- ],
- "comments": [
- "This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately."
- ],
- "definition": {
- "val": "The presence of developmental dysplasia of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Retinal dysgenesis"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D015792"
- },
- {
- "val": "SNOMEDCT_US:95494009"
- },
- {
- "val": "UMLS:C0035313"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007975",
- "lbl": "Hypometric horizontal saccades",
- "meta": {
- "definition": {
- "val": "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.",
- "xrefs": [
- "HPO:probinson",
- "PMID:572501"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C1856478"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007976",
- "lbl": "Cerulean cataract",
- "meta": {
- "definition": {
- "val": "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.",
- "xrefs": [
- "HPO:probinson",
- "PMID:19496508",
- "PMID:9158139"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cataracts, congenital, cerulean"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:C537955"
- },
- {
- "val": "SNOMEDCT_US:204138006"
- },
- {
- "val": "UMLS:C0344523"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007979",
- "lbl": "Gaze-evoked horizontal nystagmus",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007639"
- }
- ],
- "definition": {
- "val": "Horizontal nystagmus made apparent by looking to the right or to the left.",
- "xrefs": [
- "HPO:curators"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Nystagmus, horizontal, gaze-evoked"
- },
- {
- "pred": "hasRelatedSynonym",
- "val": "Nystagmus, horizontal gaze-evoked",
- "xrefs": [
- "HPO:skoehler"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853394"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007980",
- "lbl": "Absent retinal pigment epithelium",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1852548"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007981",
- "lbl": "obsolete Concentric narrowing of visual field",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001133"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007982",
- "lbl": "obsolete Central tapetoretinal dystrophy",
- "meta": {
- "basicPropertyValues": [
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- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000556"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007984",
- "lbl": "Electronegative electroretinogram",
- "meta": {
- "comments": [
- "Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave."
- ],
- "definition": {
- "val": "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#abbreviation",
- "val": "Electronegative ERG"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Electroretinogram: reduced b-wave amplitude"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced ERG amplitude of b-wave"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced electroretinogram rod b-wave"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021561"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007985",
- "lbl": "Retinal arteriolar occlusion",
- "meta": {
- "definition": {
- "val": "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Blocked retinal artery",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024761"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007986",
- "lbl": "Increased retinal vascularity",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1847882"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007987",
- "lbl": "Progressive visual field defects",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024760"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007988",
- "lbl": "Macular hypopigmentation",
- "meta": {
- "definition": {
- "val": "Decreased amount of pigmentation in the macula lutea.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024759"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007989",
- "lbl": "Intraretinal exudate",
- "meta": {
- "definition": {
- "val": "Retinal exudate within the retinal tissue itself.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024758"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007990",
- "lbl": "Hypoplastic iris stroma",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007991"
- },
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- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008027"
- }
- ],
- "definition": {
- "val": "Underdevelopment of the stroma of iris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Hypoplastic iris stoma"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Iris stromal hypoplasia"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Underdeveloped iris stroma",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860344"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007992",
- "lbl": "Lattice retinal degeneration",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:3577000"
- },
- {
- "val": "UMLS:C0154856"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007993",
- "lbl": "Malformed lacrimal duct",
- "meta": {
- "definition": {
- "val": "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Malformed tear ducts",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024757"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0007994",
- "lbl": "Peripheral visual field loss",
- "meta": {
- "definition": {
- "val": "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Tunnel vision"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Loss of peripheral vision",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Kalnienk vision",
- "xrefs": [
- "ORCID:0000-0001-5208-3432",
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:420990001"
- },
- {
- "val": "UMLS:C0241688"
- },
- {
- "val": "UMLS:C2937228"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008000",
- "lbl": "Decreased corneal reflex",
- "meta": {
- "definition": {
- "val": "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Decreased blink reflex"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Reduced corneal reflex"
- }
- ],
- "xrefs": [
- {
- "val": "MSH:D012021"
- },
- {
- "val": "SNOMEDCT_US:103254005"
- },
- {
- "val": "UMLS:C0151572"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008001",
- "lbl": "Foveal hyperpigmentation",
- "meta": {
- "definition": {
- "val": "Increased amount of pigmentation in the fovea centralis.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C3809301"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008002",
- "lbl": "Abnormality of macular pigmentation",
- "meta": {
- "definition": {
- "val": "Abnormality of macular or foveal pigmentation.",
- "xrefs": [
- "DDD:ncarter"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "synonyms": [
- {
- "pred": "hasRelatedSynonym",
- "val": "Macular pigmentary changes"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1837087"
- },
- {
- "val": "UMLS:C4024756"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008003",
- "lbl": "Jerky ocular pursuit movements",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007897"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Jerky smooth pursuit"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1853558"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008005",
- "lbl": "obsolete Congenital corneal dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0001131"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008007",
- "lbl": "Primary congenital glaucoma",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:415176004"
- },
- {
- "val": "UMLS:C1533041"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008008",
- "lbl": "obsolete Progressive central visual loss",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008009",
- "lbl": "Three rows of eyelashes",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Three rows of eyelashes"
- },
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Triple row of eyelashes",
- "xrefs": [
- "ORCID:0000-0001-5889-4463"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1860785"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008011",
- "lbl": "Peripheral opacification of the cornea",
- "meta": {
- "definition": {
- "val": "Reduced transparency of the peripheral region of the cornea.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Peripheral corneal opacity"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:55713007"
- },
- {
- "val": "UMLS:C0155100"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008012",
- "lbl": "obsolete Congenital myopia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0000545"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008014",
- "lbl": "Central fundal arteriolar microaneurysms",
- "meta": {
- "definition": {
- "val": "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "xrefs": [
- {
- "val": "UMLS:C4024755"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008017",
- "lbl": "obsolete Depigmented lesions of the retinal pigment epithelium",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#consider",
- "val": "HP:0007680"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008019",
- "lbl": "Superior lens subluxation",
- "meta": {
- "definition": {
- "val": "Partial dislocation of the lens in a superior direction.",
- "xrefs": [
- "HPO:probinson",
- "PMID:5087595"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Superior subluxated lens",
- "xrefs": [
- "ORCID:0000-0001-6908-9849"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2036843"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008020",
- "lbl": "Cone dystrophy",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007789"
- }
- ],
- "definition": {
- "val": "Inherited progressive cone degeneration."
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Progressive cone degeneration"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Progressive cone dystrophy"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C0730290"
- },
- {
- "val": "UMLS:C3665342"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008024",
- "lbl": "obsolete Congenital nuclear cataract",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0100018"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008026",
- "lbl": "Horizontal opticokinetic nystagmus",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C4024754"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008028",
- "lbl": "Cystoid macular degeneration",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0007673"
- }
- ],
- "definition": {
- "val": "A form of macular degeneration characterized by the presence of multiple cysts in the macula.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Cystic macular degeneration"
- }
- ],
- "xrefs": [
- {
- "val": "SNOMEDCT_US:14046000"
- },
- {
- "val": "UMLS:C0154850"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008030",
- "lbl": "Retinal arteritis",
- "meta": {
- "xrefs": [
- {
- "val": "SNOMEDCT_US:11255009"
- },
- {
- "val": "UMLS:C0271069"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008031",
- "lbl": "Posterior Y-sutural cataract",
- "meta": {
- "definition": {
- "val": "A type of sutural cataract in which the opacity follows the posterior Y suture.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Posterior Y-sutural cataracts"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021560"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008033",
- "lbl": "obsolete Congenital exotropia",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://purl.obolibrary.org/obo/IAO_0100001",
- "val": "HP:0000577"
- }
- ],
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008034",
- "lbl": "Abnormal iris pigmentation",
- "meta": {
- "definition": {
- "val": "Abnormal pigmentation of the iris.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "subsets": [
- "http://purl.obolibrary.org/obo/hp#hposlim_core"
- ],
- "xrefs": [
- {
- "val": "UMLS:C1834387"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008035",
- "lbl": "Retinitis pigmentosa inversa",
- "meta": {
- "basicPropertyValues": [
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008506"
- }
- ],
- "definition": {
- "val": "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).",
- "xrefs": [
- "ORCID:0000-0003-0986-4123",
- "PMID:9734800"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Central retinitis pigmentosa"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021559"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008036",
- "lbl": "obsolete Rod-cone dystrophy",
- "meta": {
- "deprecated": true
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008037",
- "lbl": "Absent anterior chamber of the eye",
- "meta": {
- "definition": {
- "val": "Absence of the anterior chamber of the eye owing to a developmental defect."
- },
- "xrefs": [
- {
- "val": "SNOMEDCT_US:404675003"
- },
- {
- "val": "SNOMEDCT_US:55457007"
- },
- {
- "val": "UMLS:C0271004"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008038",
- "lbl": "Aplastic/hypoplastic lacrimal glands",
- "meta": {
- "definition": {
- "val": "Absence or underdevelopment of the lacrimal gland.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Absent/underdeveloped tear glands",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Absent/underdeveloped lacrimal glands",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C1835602"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008039",
- "lbl": "Subepithelial corneal opacities",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1857307"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008041",
- "lbl": "Late onset congenital glaucoma",
- "meta": {
- "xrefs": [
- {
- "val": "UMLS:C1856441"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008043",
- "lbl": "Retinal arteriolar constriction",
- "meta": {
- "basicPropertyValues": [
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- "val": "HP:0007952"
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- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId",
- "val": "HP:0008510"
- }
- ],
- "comments": [
- "Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery."
- ],
- "definition": {
- "val": "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Constricted retinal arterioles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Narrow retinal arterioles"
- },
- {
- "pred": "hasExactSynonym",
- "val": "Retinal arteriolar narrowing"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C2176208"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008045",
- "lbl": "Enlarged flash visual evoked potentials",
- "meta": {
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "High flash visual evoked potentials"
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4021558"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008046",
- "lbl": "Abnormal retinal vascular morphology",
- "meta": {
- "basicPropertyValues": [
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- "val": "peter"
- },
- {
- "pred": "http://www.geneontology.org/formats/oboInOwl#creation_date",
- "val": "2008-04-02T12:09:00Z"
- }
- ],
- "definition": {
- "val": "A structural abnormality of retinal vasculature.",
- "xrefs": [
- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of retina blood vessels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- },
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the retinal vasculature"
- }
- ],
- "xrefs": [
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- "val": "UMLS:C4024753"
- }
- ]
- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008047",
- "lbl": "Abnormality of the vasculature of the eye",
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- "val": "2008-04-02T12:10:00Z"
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- ],
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "synonymType": "http://purl.obolibrary.org/obo/hp#layperson",
- "val": "Abnormality of eye blood vessels",
- "xrefs": [
- "ORCID:0000-0001-5208-3432"
- ]
- }
- ],
- "xrefs": [
- {
- "val": "UMLS:C4024752"
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- },
- "type": "CLASS"
- },
- {
- "id": "http://purl.obolibrary.org/obo/HP_0008048",
- "lbl": "Abnormal line of Schwalbe morphology",
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- }
- ],
- "comments": [
- "Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer."
- ],
- "definition": {
- "val": "An abnormality of the line of Schwalbe.",
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- "HPO:probinson"
- ]
- },
- "synonyms": [
- {
- "pred": "hasExactSynonym",
- "val": "Abnormality of the line of Schwalbe"
-