From 66f4ce325b05e6d146abd09da9218e2607f15bce Mon Sep 17 00:00:00 2001 From: "J. Allen Baron" Date: Sat, 7 Oct 2023 14:51:19 -0400 Subject: [PATCH] Add diphthamide deficiency syndrome and 3 subtypes Closes #1239 --- src/ontology/doid-edit.owl | 64 ++++++++++++++++++++++++++++++++++++++ 1 file changed, 64 insertions(+) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 6ec6c67e0..e87a1fc0c 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -2361,6 +2361,10 @@ Declaration(Class(obo:DOID_0070469)) Declaration(Class(obo:DOID_0070471)) Declaration(Class(obo:DOID_0070472)) Declaration(Class(obo:DOID_0070475)) +Declaration(Class(obo:DOID_0070476)) +Declaration(Class(obo:DOID_0070477)) +Declaration(Class(obo:DOID_0070478)) +Declaration(Class(obo:DOID_0070479)) Declaration(Class(obo:DOID_0080000)) Declaration(Class(obo:DOID_0080001)) Declaration(Class(obo:DOID_0080005)) @@ -46355,6 +46359,66 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070475 "UMLS_CUI:C4049328") SubClassOf(obo:DOID_0070475 obo:DOID_4450) SubClassOf(obo:DOID_0070475 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0000362)) +# Class: obo:DOID_0070476 (diphthamide deficiency syndrome) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32576952/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35482014/") obo:IAO_0000115 obo:DOID_0070476 "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070476 "OMIM:PS616901") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070476 "ORDO:459061") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "DEDSSH") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070476 "developmental delay with short stature, dysmorphic facial features, and sparse hair") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070476 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070476 "DOID:0070476") +AnnotationAssertion(rdfs:label obo:DOID_0070476 "diphthamide deficiency syndrome") +AnnotationAssertion(skos:exactMatch obo:DOID_0070476 "OMIM:PS616901") +AnnotationAssertion(skos:exactMatch obo:DOID_0070476 "ORDO:459061") +SubClassOf(obo:DOID_0070476 obo:DOID_9252) +SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)) +SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0001263)) +SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0004322)) +SubClassOf(obo:DOID_0070476 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0008070)) + +# Class: obo:DOID_0070477 (diphthamide deficiency syndrome 1) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30877278/") obo:IAO_0000115 obo:DOID_0070477 "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070477 "OMIM:616901") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "DEDSSH1") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "DPH1 syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "Loucks-Innes syndrome") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070477 "developmental delay with short stature, dysmorphic facial features, and sparse hair 1") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070477 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070477 "DOID:0070477") +AnnotationAssertion(rdfs:label obo:DOID_0070477 "diphthamide deficiency syndrome 1") +AnnotationAssertion(skos:exactMatch obo:DOID_0070477 "OMIM:616901") +SubClassOf(obo:DOID_0070477 obo:DOID_0070476) + +# Class: obo:DOID_0070478 (diphthamide deficiency syndrome 2) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32576952/") obo:IAO_0000115 obo:DOID_0070478 "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070478 "OMIM:620062") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070478 "DEDSSH2") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070478 "developmental delay with short stature, dysmorphic facial features, and sparse hair 2") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070478 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070478 "DOID:0070478") +AnnotationAssertion(rdfs:label obo:DOID_0070478 "diphthamide deficiency syndrome 2") +AnnotationAssertion(skos:exactMatch obo:DOID_0070478 "OMIM:620062") +SubClassOf(obo:DOID_0070478 obo:DOID_0070476) + +# Class: obo:DOID_0070479 (neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties) + +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35482014/") obo:IAO_0000115 obo:DOID_0070479 "An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.") +AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070479 "OMIM:620070") +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070479 "NEDSFF") +AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070479 "disease_ontology") +AnnotationAssertion(oboInOwl:id obo:DOID_0070479 "DOID:0070479") +AnnotationAssertion(rdfs:label obo:DOID_0070479 "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties") +AnnotationAssertion(skos:exactMatch obo:DOID_0070479 "OMIM:620070") +SubClassOf(obo:DOID_0070479 obo:DOID_0070476) +SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0001344)) +SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0002355)) +SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0011968)) +SubClassOf(obo:DOID_0070479 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0031936)) + # Class: obo:DOID_0080000 (muscular disease) AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")