diff --git a/annotations/maxo-annotations.tsv b/annotations/maxo-annotations.tsv new file mode 100644 index 0000000..81aba5e --- /dev/null +++ b/annotations/maxo-annotations.tsv @@ -0,0 +1,417 @@ +#description: MAxO therapeutic annotations for rare diseases +#date: 2023-07-13 +#tracker: https://github.com/monarch-initiative/MAxO/issues +disease_id disease_name citation maxo_id maxo_label hpo_id maxo_relation evidence_code extension_id extension_label attribute creator last_update created_on +MONDO:0008854 Bardet-biedl Syndrome 1 PMID:20301537 MAXO:0000088 dietary intervention HP:0000819 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-01-06 +MONDO:0008854 Bardet-biedl Syndrome 1 PMID:20301537 MAXO:0000011 physical therapy HP:0002141 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-01-06 +MONDO:0008854 Bardet-biedl Syndrome 1 PMID:20301537 MAXO:0000930 speech therapy HP:0000750 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-01-06 +MONDO:0008854 Bardet-biedl Syndrome 1 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-01-06 +MONDO:0021056 Adenomatous Polyposis Coli https://www.ncbi.nlm.nih.gov/books/NBK1345/ MAXO:0001110 tumorectomy HP:0100245 TREATS TAS ORCID:0000-0001-7941-2961 2023-04-06 2022-01-25 +MONDO:0021056 Adenomatous Polyposis Coli https://www.ncbi.nlm.nih.gov/books/NBK1345/ MAXO:0000885 surgical removal procedure HP:0030731 TREATS TAS ORCID:0000-0001-7941-2961 2023-04-06 2022-01-26 +MONDO:0021056 Adenomatous Polyposis Coli https://www.ncbi.nlm.nih.gov/books/NBK1345/ MAXO:0000885 surgical removal procedure HP:0004394 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-01-26 +MONDO:0021056 Adenomatous Polyposis Coli https://www.ncbi.nlm.nih.gov/books/NBK1345/ MAXO:0000885 surgical removal procedure HP:0006722 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-01-26 +MONDO:0009367 Mckusick-kaufman Syndrome PMID:20301675 MAXO:0000004 surgical procedure HP:0030010 TREATS TAS ORCID:0000-0001-5208-3432 2023-01-31 2022-02-10 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000011 physical therapy HP:0002355 PREVENTS TAS ORCID:0000-0002-4142-7153 2022-02-14 2022-02-14 +MONDO:0014432 Bardet-biedl Syndrome 2 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-02-15 +MONDO:0014432 Bardet-biedl Syndrome 2 PMID:20301537 MAXO:0000088 dietary intervention HP:0000819 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-02-15 +MONDO:0010832 Bardet-biedl Syndrome 3 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-15 +MONDO:0014433 Bardet-biedl Syndrome 4 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0011523 Bardet-biedl Syndrome 6 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-15 +MONDO:0014435 Bardet-biedl Syndrome 7 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-02-15 +MONDO:0014436 Bardet-biedl Syndrome 8 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-15 +MONDO:0014437 Bardet-biedl Syndrome 9 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0014437 Bardet-biedl Syndrome 9 PMID:20301537 MAXO:0000930 speech therapy HP:0000750 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0014438 Bardet-biedl Syndrome 10 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-15 +MONDO:0014439 Bardet-biedl Syndrome 11 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0014440 Bardet-biedl Syndrome 12 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0014441 Bardet-biedl Syndrome 13 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-15 +MONDO:0044308 Bardet-biedl Syndrome 21 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-17 +MONDO:0044308 Bardet-biedl Syndrome 21 PMID:20301537 MAXO:0000930 speech therapy HP:0000750 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-17 +MONDO:0014442 Bardet-biedl Syndrome 14 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-17 +MONDO:0010533 Arts Syndrome PMID:8498830 MAXO:0000011 physical therapy HP:0001251 TREATS TAS ORCID:0000-0001-5208-3432 2022-07-12 2022-02-22 +MONDO:0014444 Bardet-biedl Syndrome 16 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-25 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000011 physical therapy HP:0007340 PREVENTS TAS ORCID:0000-0002-4142-7153 2022-02-28 2022-02-28 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000011 physical therapy HP:0002061 PREVENTS TAS ORCID:0000-0002-4142-7153 2022-02-28 2022-02-28 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000011 physical therapy HP:0006986 PREVENTS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-02-28 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000930 speech therapy HP:0001260 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-02-28 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000324 skeletal muscle relaxant agent therapy HP:0002061 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-02-28 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000324 skeletal muscle relaxant agent therapy HP:0006986 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0000189 dyslipidemic agent therapy HP:0005177 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0000572 hypoglycemic agent therapy HP:0000819 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0000287 estrogen modifying agent therapy HP:0000939 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0000283 hormone modifying therapy HP:0000939 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0000110 vitamin D supplementation HP:0000939 PREVENTS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0001139 calcium supplementation HP:0000939 PREVENTS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-02-28 +MONDO:0021056 Adenomatous Polyposis Coli OMIM:175100 MAXO:0000221 nonsteroidal anti-inflammatory agent therapy HP:0005227 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-03-01 +MONDO:0021056 Adenomatous Polyposis Coli OMIM:175100 MAXO:0001042 colectomy HP:0005227 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-03-01 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0000930 speech therapy HP:0001263 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-03-17 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0000011 physical therapy HP:0001263 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-03-17 +MONDO:0007039 Neurofibromatosis, Type Ii PMID:20301380 MAXO:0000448 surgical resection HP:0009592 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0007039 Neurofibromatosis, Type Ii PMID:20301380 MAXO:0000448 surgical resection HP:0009590 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0007039 Neurofibromatosis, Type Ii PMID:20301380 MAXO:0000448 surgical resection HP:0002888 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0007039 Neurofibromatosis, Type Ii PMID:20301380 MAXO:0000448 surgical resection HP:0009593 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0007039 Neurofibromatosis, Type Ii PMID:20301380 MAXO:0000448 surgical resection HP:0009589 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0007042 Saethre-chotzen Syndrome PMID:20301368 MAXO:0000004 surgical procedure HP:0000175 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-03-17 +MONDO:0016862 Alagille Syndrome 1 PMID:20301450 MAXO:0001135 fat soluble vitamin supplementation HP:0001508 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-10 2022-05-06 +MONDO:0016862 Alagille Syndrome 1 PMID:20301450 MAXO:0001175 liver transplantation HP:0001399 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-10 2022-05-06 +MONDO:0007688 Myhre Syndrome PMID:28406602 MAXO:0000011 physical therapy HP:0001376 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-16 2022-05-06 +MONDO:0007688 Myhre Syndrome PMID:28406602 MAXO:0000011 physical therapy HP:0001387 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-16 2022-05-06 +MONDO:0007688 Myhre Syndrome PMID:28406602 MAXO:0000066 supplemental oxygen therapy HP:0002093 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-16 2022-05-06 +MONDO:0007688 Myhre Syndrome PMID:28406602 MAXO:0000504 tracheostomy HP:0004894 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-16 2022-05-06 +MONDO:0007510 Clouston Syndrome PMID:20301379 MAXO:0000159 analgesic therapy HP:0000972 TREATS TAS ORCID:0000-0001-5208-3432 2022-05-16 2022-04-27 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0009030 hearing aid usage HP:0000365 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0009025 cochlear device implantation HP:0000365 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0009031 auditory rehabilitation HP:0000365 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0009029 hearing therapy HP:0000365 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0013252 Warsaw Breakage Syndrome PMID:31169992 MAXO:0000930 speech therapy HP:0000365 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0010200 Wilson Disease PMID:20301685 MAXO:0001224 copper chelator agent therapy HP:0010838 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0010200 Wilson Disease PMID:20301685 MAXO:0001224 copper chelator agent therapy MONDO:0010200 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0010200 Wilson Disease PMID:20301685 MAXO:0000112 food antioxidant supplementation MONDO:0010200 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0010196 Werner Syndrome PMID:20301687 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0000518 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-06 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0009015 botulinum toxin therapy HP:0000012 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0009015 botulinum toxin therapy HP:0002061 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0009015 botulinum toxin therapy HP:0006986 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-06 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0001055 gonadectomy HP:0000149 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0001055 gonadectomy HP:0000149 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0003774 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000652 ACE inhibitor therapy HP:0003774 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0003774 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0003774 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000190 RAAS inhibitor therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0009733 Nephrotic Syndrome, Type 4 PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0001967 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0008682 Denys-drash Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0003774 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000097 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0007635 Frasier Syndrome PMID:32352694 MAXO:0000653 angiotensin receptor blocker therapy HP:0000100 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-06-07 +MONDO:0012589 Pitt-hopkins Syndrome PMID:22934316 MAXO:0000167 anticonvulsant agent therapy HP:0001250 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-12 2022-06-10 +MONDO:0012439 Alagille Syndrome 2 PMID:20301450 MAXO:0001124 anticholesteric agent therapy HP:0001396 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-10 +MONDO:0007064 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative,b Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency PMID:20301656 MAXO:0000061 antibacterial agent therapy HP:0002718 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-10 +MONDO:0007064 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative,b Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency PMID:20301656 MAXO:0000168 antiviral agent therapy HP:0004429 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-10 +MONDO:0007064 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative,b Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency PMID:20301656 MAXO:0000174 anti-fungal agent therapy HP:0002841 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-10 +MONDO:0018919 Mccune-albright Syndrome PMID:25719192 MAXO:0000294 antithyroid agent therapy HP:0000836 TREATS TAS ORCID:0000-0001-5208-3432 2022-12-03 2022-06-10 +MONDO:0018919 Mccune-albright Syndrome PMID:25719192 MAXO:0000234 aromatase inhibitor agent therapy HP:0000826 TREATS TAS ORCID:0000-0001-5208-3432 2022-12-03 2022-06-10 +MONDO:0018919 Mccune-albright Syndrome PMID:25719192 MAXO:0000283 hormone modifying therapy HP:0000845 TREATS TAS ORCID:0000-0001-5208-3432 2022-12-03 2022-06-10 +MONDO:0018919 Mccune-albright Syndrome PMID:25719192 MAXO:0001030 adrenalectomy HP:0003118 TREATS TAS ORCID:0000-0001-5208-3432 2022-12-03 2022-06-10 +MONDO:0008670 Waardenburg Syndrome, Type 1 PMID:20301703 MAXO:0009025 cochlear device implantation HP:0008527 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-11 +MONDO:0008221 Prolidase Deficiency PMID:26110198 MAXO:0000061 antibacterial agent therapy HP:0200042 TREATS TAS ORCID:0000-0001-5208-3432 2023-06-14 2022-06-11 +MONDO:0008953 Zellweger Syndrome PMID:20301621 MAXO:0009030 hearing aid usage HP:0000407 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-13 +MONDO:0009959 Refsum Disease, Infantile Form PMID:20301621 MAXO:0009030 hearing aid usage HP:0000407 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-06-13 +MONDO:0008736 Peroxisome Biogenesis Disorder 2b PMID:20301621 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0010696 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-06-13 +MONDO:0008953 Zellweger Syndrome PMID:20301621 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0000518 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-06-13 +MONDO:0008736 Peroxisome Biogenesis Disorder 2b PMID:20301621 MAXO:0001117 seizure prevention recommendation HP:0001250 PREVENTS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-06-13 +MONDO:0008953 Zellweger Syndrome PMID:20301621 MAXO:0001117 seizure prevention recommendation HP:0001250 PREVENTS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-06-13 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000160 antidepressant agent therapy HP:0000712 TREATS TAS ORCID:0000-0002-4142-7153 2022-06-28 2022-02-28 +MONDO:0010533 Arts Syndrome PMID:8498830 MAXO:0000946 neurosurgical procedure HP:0001057 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0013895 Adams-oliver Syndrome 3 PMID:27077170 MAXO:0000946 neurosurgical procedure HP:0001057 TREATS TAS comment: "reconstruction by a neurosurgeon" ORCID:0000-0001-5208-3432 2023-02-12 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000448 surgical resection HP:0011781 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000448 surgical resection HP:0002897 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000448 surgical resection HP:0002865 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000429 external beam radiation therapy HP:0002897 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000429 external beam radiation therapy HP:0002865 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000448 surgical resection HP:0000843 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008234 Multiple Endocrine Neoplasia, Type Iia PMID:20301434 MAXO:0000294 antithyroid agent therapy HP:0011781 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0008082 Multiple Endocrine Neoplasia, Type Iib PMID:20301434 MAXO:0000448 surgical resection HP:0011781 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0008082 Multiple Endocrine Neoplasia, Type Iib PMID:20301434 MAXO:0000429 external beam radiation therapy HP:0002865 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0012098 Spinocerebellar Ataxia 20 PMID:20301644 MAXO:0000930 speech therapy HP:0001260 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0012098 Spinocerebellar Ataxia 20 PMID:20301644 MAXO:0000930 speech therapy HP:0001618 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0012098 Spinocerebellar Ataxia 20 PMID:20301644 MAXO:0000011 physical therapy HP:0002066 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-06-30 +MONDO:0100252 Tumoral Calcinosis, Hyperphosphatemic, Familial PMID:29389098 MAXO:0010113 dietary phosphate intake avoidance HP:0002905 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0100252 Tumoral Calcinosis, Hyperphosphatemic, Familial PMID:29389098 MAXO:0000448 surgical resection HP:0003761 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0100252 Tumoral Calcinosis, Hyperphosphatemic, Familial PMID:29389098 MAXO:0010113 dietary phosphate intake avoidance HP:0003761 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0100252 Tumoral Calcinosis, Hyperphosphatemic, Familial PMID:29389098 MAXO:0000277 phosphate binders agent therapy HP:0003761 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0100252 Tumoral Calcinosis, Hyperphosphatemic, Familial PMID:29389098 MAXO:0000221 NSAID therapy HP:0100774 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-06-30 +MONDO:0007947 Marfan Syndrome PMID:20301510 MAXO:0000653 angiotensin-receptor blocker therapy HP:0002616 PREVENTS TAS ORCID:0000-0002-0736-9199 2022-07-05 2022-02-10 +MONDO:0007947 Marfan Syndrome PMID:25405392 MAXO:0000187 beta-adrenergic antagonist agent therapy HP:0002616 PREVENTS PCS ORCID:0000-0002-0736-9199 2022-07-05 2021-12-09 +MONDO:0007534 Beckwith-wiedemann Syndrome PMID:20301568 MAXO:0000500 airway management HP:0000158 TREATS TAS ORCID:0000-0001-7941-2961 2022-07-05 2022-01-26 +MONDO:0011182 Trimethylaminuria PMID:20301282 MAXO:0010103 dietary trimethylamine intake avoidance HP:0003614 PREVENTS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-07-06 +MONDO:0011182 Trimethylaminuria PMID:20301282 MAXO:0010105 dietary trimethylamine N-oxide intake avoidance HP:0003614 PREVENTS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-07-06 +MONDO:0011182 Trimethylaminuria PMID:20301282 MAXO:0010104 dietary choline intake avoidance HP:0003614 PREVENTS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-07-06 +MONDO:0011182 Trimethylaminuria PMID:20301282 MAXO:0000077 behavioral counseling HP:0000716 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-07-06 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000058 pharmacotherapy HP:0001332 TREATS TAS CHEBI:48873 cholinergic antagonist ORCID:0000-0002-4142-7153 2023-03-04 2022-07-29 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000058 pharmacotherapy HP:0001332 TREATS TAS CHEBI:22720 benzodiazepine ORCID:0000-0002-4142-7153 2023-03-04 2022-07-29 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000058 pharmacotherapy HP:0001332 TREATS TAS CHEBI:15765 L-dopa ORCID:0000-0002-4142-7153 2023-03-04 2022-07-29 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0009015 botulinum toxin therapy HP:0001332 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2022-07-29 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000943 deep brain stimulation HP:0001332 TREATS TAS comment: "stimulation of the globus pallidus interna" ORCID:0000-0002-4142-7153 2023-03-04 2022-07-29 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0001110 tumorectomy HP:0006880 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0001110 tumorectomy HP:0009713 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000453 laser ablation therapy HP:0009711 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000455 cryosurgery HP:0009711 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000429 external beam radiation therapy HP:0009711 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000448 surgical resection HP:0009711 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0001110 tumorectomy HP:0005584 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0001065 nephrectomy HP:0005584 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000455 cryosurgery HP:0005584 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000447 surgical excision HP:0002666 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0001110 tumorectomy HP:0002894 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000447 surgical excision HP:0001737 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-11 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0002666 TREATS TAS comment: "CHEBI:38940" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0005584 TREATS TAS comment: "CHEBI:38940" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0006880 TREATS TAS comment: "CHEBI:177023" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0009713 TREATS TAS comment: "CHEBI:177023" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0009713 PREVENTS TAS comment: "CHEBI:9513" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0010156 Spastic Paraplegia 20, Autosomal Recessive PMID:20301556 MAXO:0000275 urinary antispasmodic agent therapy HP:0000012 TREATS TAS CHEBI:27732 caffeine ORCID:0000-0002-4142-7153 2022-08-16 2022-02-28 +MONDO:0011236 Hyperinsulinemic Hypoglycemia, Familial, 3 PMID:9435328 MAXO:0000905 benzodiazepine agent therapy HP:0000825 TREATS TAS CHEBI:4495 diazoxide ORCID:0000-0002-0736-9199 2022-09-03 2022-09-03 +MONDO:0012382 Hyperinsulinemic Hypoglycemia, Familial, 4 PMID:11489939 MAXO:0000905 benzodiazepine agent therapy HP:0000825 TREATS TAS CHEBI:4495 diazoxide ORCID:0000-0002-0736-9199 2022-09-03 2022-09-03 +MONDO:0012382 Hyperinsulinemic Hypoglycemia, Familial, 4 PMID:11489939 MAXO:0000742 thiazide diuretic agent therapy HP:0000825 TREATS TAS CHEBI:3640 chlorothiazide ORCID:0000-0002-0736-9199 2022-09-03 2022-09-03 +MONDO:0009797 Orotic Aciduria PMID:9042911 MAXO:0010022 uridine supplementation MONDO:0009797 TREATS TAS ORCID:0000-0002-0736-9199 2022-09-06 2022-09-06 +MONDO:0013925 Methylmalonic Aciduria And Homocystinuria, Cblj Type PMID:22922874 MAXO:0010029 methylcobalamin supplementation MONDO:0013925 TREATS TAS ORCID:0000-0002-0736-9199 2022-09-06 2022-09-06 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000058 pharmacotherapy HP:0001332 TREATS TAS CHEBI:9720 Trihexyphenidyl ORCID:0000-0002-4142-7153 2023-03-04 2022-09-06 +MONDO:0009419 Woodhouse-sakati Syndrome PMID:27489925 MAXO:0000058 pharmacotherapy HP:0001332 TREATS TAS CHEBI:2972 baclofen ORCID:0000-0002-4142-7153 2023-03-04 2022-09-06 +MONDO:0008783 Tangier Disease PMID:31751110 MAXO:0010034 corneal transplantation HP:0007759 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-09-06 +MONDO:0008547 Thanatophoric Dysplasia, Type Ii PMID:20301540 MAXO:0000504 tracheostomy HP:0002093 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2022-09-06 +MONDO:0008546 Thanatophoric Dysplasia, Type I PMID:20301540 MAXO:0000504 tracheostomy HP:0002093 TREATS TAS ORCID:0000-0002-4142-7153 2023-02-07 2022-09-06 +MONDO:0013521 Dyskeratosis Congenita, Autosomal Dominant 2 PMID:27192671 MAXO:0000286 androgen modifying agent therapy MONDO:0013521 TREATS PCS CHEBI:4315 danazol comment: "multiple mechanisms of action" ORCID:0000-0001-7941-2961 2022-09-12 2022-09-12 +MONDO:0013878 Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 1 PMID:27192671 MAXO:0000286 androgen modifying agent therapy MONDO:0013878 TREATS PCS CHEBI:4315 danazol comment: "multiple mechanisms of action" ORCID:0000-0001-7941-2961 2022-09-12 2022-09-12 +MONDO:0014590 Myasthenic Syndrome, Congenital, 18 PMID:25381298 MAXO:0000434 calcium channel blocking agent therapy HP:0001324 TREATS TAS CHEBI:51599 2,4-diaminopyridine ORCID:0000-0002-0736-9199 2022-09-27 2022-09-27 +MONDO:0007765 Hyperostosis Cranialis Interna PMID:20140965 MAXO:0000004 surgical procedure HP:0010628 TREATS TAS ORCID:0000-0002-0736-9199 2022-10-01 2022-10-01 +MONDO:0013460 Osteogenesis Imperfecta, Type Xii PMID:20579626 MAXO:0000954 bisphosphonate agent therapy HP:0040160 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0014081 Card11 Immunodeficiency PMID:23561803 MAXO:0000747 hematopoietic stem cell transplantation HP:0002721 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0014081 Card11 Immunodeficiency PMID:23374270 MAXO:0000747 hematopoietic stem cell transplantation HP:0002721 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0009561 Mannosidosis, Alpha B, Lysosomal PMID:29716835 MAXO:0000933 enzyme replacement or supplementation therapy MONDO:0009561 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0009561 Mannosidosis, Alpha B, Lysosomal PMID:20301570 MAXO:0009030 hearing aid usage HP:0000407 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0009561 Mannosidosis, Alpha B, Lysosomal PMID:20301570 MAXO:0000747 hematopoietic stem cell transplantation MONDO:0009561 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0011399 Alpha-thalassemia PMID:20301608 MAXO:0000747 hematopoietic stem cell transplantation MONDO:0011399 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0011399 Alpha-thalassemia PMID:20301608 MAXO:0000756 blood transfusion HP:0004840 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0011399 Alpha-thalassemia PMID:20301608 MAXO:0001225 iron chelator agent therapy MONDO:0011399 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0008692 Abetalipoproteinemia PMID:30358967 MAXO:0010024 essential fatty acid supplementation HP:0002630 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0008692 Abetalipoproteinemia PMID:30358967 MAXO:0001135 fat soluble vitamin supplementation HP:0002630 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-06 2022-11-06 +MONDO:0013395 Retinitis Pigmentosa 4 PMID:35940643 MAXO:0001001 gene therapy MONDO:0013395 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-07 2022-11-07 +MONDO:0014462 Focal Segmental Glomerulosclerosis 8 PMID:24676636 MAXO:0000601 renal dialysis HP:0003774 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-07 2022-11-07 +MONDO:0013867 Brown-vialetto-van Laere Syndrome 2 PMID:24253200 MAXO:0010016 riboflavin supplementation HP:0007141 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-07 2022-11-07 +MONDO:0000902 Agenesis Of The Corpus Callosum With Peripheral Neuropathy PMID:20301546 MAXO:0000011 physical therapy HP:0001371 PREVENTS TAS ORCID:0000-0002-0736-9199 2022-11-08 2022-11-08 +MONDO:0000902 Agenesis Of The Corpus Callosum With Peripheral Neuropathy PMID:20301546 MAXO:0000482 orthotic device usage HP:0003690 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-08 2022-11-08 +MONDO:0000902 Agenesis Of The Corpus Callosum With Peripheral Neuropathy PMID:20301546 MAXO:0000166 antipsychotic agent therapy HP:0000709 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-08 2022-11-08 +MONDO:0011297 Epilepsy, Nocturnal Frontal Lobe, 2 PMID:20301348 MAXO:0000167 anticonvulsant agent therapy HP:0002133 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0011297 Epilepsy, Nocturnal Frontal Lobe, 2 PMID:20301348 MAXO:0000942 vagus nerve stimulation HP:0002133 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0011545 Epilepsy, Nocturnal Frontal Lobe, 3 PMID:11104662 MAXO:0000942 vagus nerve stimulation HP:0001250 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0011545 Epilepsy, Nocturnal Frontal Lobe, 3 PMID:11104662 MAXO:0000167 anticonvulsant agent therapy HP:0001250 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0010899 Epilepsy, Nocturnal Frontal Lobe, 1 PMID:7895015 MAXO:0000167 anticonvulsant agent therapy HP:0001250 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0010899 Epilepsy, Nocturnal Frontal Lobe, 1 PMID:7895015 MAXO:0000942 vagus nerve stimulation HP:0001250 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0014002 Epilepsy, Nocturnal Frontal Lobe, 5 PMID:20301348 MAXO:0000167 anticonvulsant agent therapy HP:0002133 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0014002 Epilepsy, Nocturnal Frontal Lobe, 5 PMID:20301348 MAXO:0000942 vagus nerve stimulation HP:0002133 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-07 2022-11-11 +MONDO:0009194 Immunodeficiency 32b PMID:21524210 MAXO:0000747 hematopoietic stem cell transplantation MONDO:0009194 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-11 2022-11-11 +MONDO:0013836 Coenzyme Q10 Deficiency, Primary, 6 PMID:21540551 MAXO:0010012 coenzyme Q10 supplementation MONDO:0013836 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-26 2022-11-26 +MONDO:0012784 Coenzyme Q10 Deficiency, Primary, 4 PMID:32337771 MAXO:0010012 coenzyme Q10 supplementation MONDO:0012784 TREATS TAS ORCID:0000-0002-0736-9199 2022-11-26 2022-11-26 +MONDO:0009591 Metachromatic Leukodystrophy PMID:32792226 MAXO:0000933 enzyme replacement or supplementation therapy MONDO:0009591 TREATS TAS ORCID:0000-0002-0736-9199 2022-12-12 2022-12-12 +MONDO:0009591 Metachromatic Leukodystrophy PMID:19067349 MAXO:0010033 umbilical cord blood transplantation MONDO:0009591 TREATS TAS ORCID:0000-0002-0736-9199 2022-12-12 2022-12-12 +MONDO:0012407 Pyridoxamine 5-prime-phosphate Oxidase Deficiency PMID:24645144 MAXO:0001131 pyridoxine supplementation HP:0001250 TREATS TAS ORCID:0000-0002-0736-9199 2022-12-18 2022-12-18 +MONDO:0011724 Glut1 Deficiency Syndrome 1 PMID:12555938 MAXO:0030010 ketogenic diet intake HP:0001250 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-17 2023-01-17 +MONDO:0011724 Glut1 Deficiency Syndrome 1 PMID:15622525 MAXO:0030010 ketogenic diet intake HP:0001250 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-17 2023-01-17 +MONDO:0009820 Osteoporosis-pseudoglioma Syndrome PMID:21407258 MAXO:0000954 bisphosphonate agent therapy HP:0000939 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-22 2023-01-22 +MONDO:0009820 Osteoporosis-pseudoglioma Syndrome PMID:35393770 MAXO:0000954 bisphosphonate agent therapy HP:0000939 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-22 2023-01-22 +MONDO:0007903 Li-fraumeni Syndrome PMID:27501770 MAXO:0000751 clinical surveilance MONDO:0007903 PREVENTS TAS ORCID:0000-0002-0736-9199 2023-01-23 2023-01-23 +MONDO:0010926 Hypocalciuric Hypercalcemia, Familial, Type Iii PMID:24081735 MAXO:0010115 dietary calcium avoidance HP:0003072 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-26 2023-01-26 +MONDO:0010998 Congenital Disorder Of Glycosylation, Type Id PMID:32389449 MAXO:0030010 ketogenic diet intake HP:0001250 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-26 2023-01-26 +MONDO:0060491 Neurodevelopmental Disorder With Involuntary Movements PMID:26060304 MAXO:0000943 deep brain stimulation HP:0004305 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-28 2023-01-28 +MONDO:0060491 Neurodevelopmental Disorder With Involuntary Movements PMID:28357411 MAXO:0000943 deep brain stimulation HP:0004305 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-28 2023-01-28 +MONDO:0018274 Amish Infantile Epilepsy Syndrome PMID:30691927 MAXO:0000167 anticonvulsant agent therapy HP:0002069 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-30 2023-01-30 +MONDO:0018274 Amish Infantile Epilepsy Syndrome PMID:15502825 MAXO:0000942 vagus nerve stimulation HP:0002069 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-30 2023-01-30 +MONDO:0014434 Bardet-biedl Syndrome 5 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-01-31 2022-02-15 +MONDO:0009174 Enteropathy, Protein-losing PMID:28657829 MAXO:0001262 micronutrient supplementation HP:0001510 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-31 2023-01-31 +MONDO:0009174 Enteropathy, Protein-losing PMID:28657829 MAXO:0001129 vitamin supplementation HP:0001510 TREATS TAS ORCID:0000-0002-0736-9199 2023-01-31 2023-01-31 +MONDO:0019014 Palmoplantar Keratoderma, Mutilating, With Periorificial Keratoticplaques PMID:22405088 MAXO:0000237 retinoid agent therapy HP:0000982 TREATS TAS CHEBI:50172 acitretin ORCID:0000-0002-0736-9199 2023-02-04 2023-02-04 +MONDO:0019014 Palmoplantar Keratoderma, Mutilating, With Periorificial Keratoticplaques PMID:22405088 MAXO:0000237 retinoid agent therapy HP:0000989 TREATS TAS CHEBI:50172 acitretin ORCID:0000-0002-0736-9199 2023-02-04 2023-02-04 +MONDO:0013458 Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis PMID:21255763 MAXO:0000908 phosphodiesterase inhibitor therapy HP:0002092 TREATS TAS CHEBI:9139 sildenafil ORCID:0000-0002-0736-9199 2023-02-04 2023-02-04 +MONDO:0014446 Bardet-biedl Syndrome 18 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-04 2022-02-22 +MONDO:0013840 Coenzyme Q10 Deficiency, Primary, 5 PMID:19375058 MAXO:0010012 coenzyme Q10 supplementation HP:0003128 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-07 2023-02-07 +MONDO:0014447 Bardet-biedl Syndrome 19 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-17 +MONDO:0014926 Bardet-biedl Syndrome 20 PMID:20301537 MAXO:0000088 dietary intervention HP:0001513 TREATS TAS ORCID:0000-0001-7941-2961 2023-02-07 2022-02-17 +MONDO:0009959 Refsum Disease, Infantile Form PMID:34664020 MAXO:0010119 dietary phytanic acid intake avoidance MONDO:0009959 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-07 2023-02-07 +MONDO:0009959 Refsum Disease, Infantile Form PMID:34664020 MAXO:0001142 docosahexaenoic acid supplementation MONDO:0009959 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-07 2023-02-07 +MONDO:0009959 Refsum Disease, Infantile Form PMID:34664020 MAXO:0001255 cholic acid supplementation MONDO:0009959 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-07 2023-02-07 +MONDO:0009959 Refsum Disease, Infantile Form PMID:15184617 MAXO:0010119 dietary phytanic acid intake avoidance MONDO:0009959 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-08 2023-02-08 +MONDO:0044316 Thrombocytopenia, Anemia, And Myelofibrosis PMID:27743390 MAXO:0000760 vitamin B12 supplementation HP:0001903 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0044316 Thrombocytopenia, Anemia, And Myelofibrosis PMID:27743390 MAXO:0001128 folic acid supplementation HP:0001903 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0044316 Thrombocytopenia, Anemia, And Myelofibrosis PMID:27743390 MAXO:0000108 iron supplementation HP:0001903 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0008668 Von Willebrand Disease, Type 1 PMID:20301765 MAXO:0000446 desmopressin agent therapy HP:0012147 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0008668 Von Willebrand Disease, Type 1 PMID:29200009 MAXO:0000445 antifibrinolytic agent therapy HP:0006298 PREVENTS TAS CHEBI:48669 tranexamic acid ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0008668 Von Willebrand Disease, Type 1 PMID:29200009 MAXO:0000445 antifibrinolytic agent therapy HP:0004846 PREVENTS TAS CHEBI:48669 tranexamic acid ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0013000 Porphyria, Acute Hepatic PMID:2063868 MAXO:0001175 liver transplantation MONDO:0013000 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0013607 Immunodeficiency 21 PMID:21816832 MAXO:0000747 hematopoietic stem cell transplantation HP:0002721 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0007064 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative,b Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency PMID:20301656 MAXO:0010030 bone marrow transplantation HP:0004430 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0007064 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative,b Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency PMID:20301656 MAXO:0000933 enzyme replacement or supplementation therapy HP:0004430 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0013607 Immunodeficiency 21 PMID:22996659 MAXO:0000441 granulocyte colony stimulating factor agent therapy HP:0001875 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0014423 Immunodeficiency 26 With Or Without Neurologic Abnormalities PMID:19075392 MAXO:0000747 hematopoietic stem cell transplantation HP:0004430 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0010533 Arts Syndrome PMID:8498830 MAXO:0009025 cochlear device implantation HP:0000365 TREATS TAS ORCID:0000-0001-5208-3432 2023-02-11 2022-02-22 +MONDO:0033014 Erythrokeratodermia Variabilis Et Progressiva 4 PMID:28575652 MAXO:0000237 retinoid agent therapy HP:0010783 TREATS TAS CHEBI:6067 isotretinoin ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0033014 Erythrokeratodermia Variabilis Et Progressiva 4 PMID:28575652 MAXO:0000237 retinoid agent therapy HP:0000962 TREATS TAS CHEBI:6067 isotretinoin ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0014168 Immunodeficiency 8 PMID:19097825 MAXO:0000747 hematopoietic stem cell transplantation HP:0002721 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0007158 Arthrogryposis, Distal, Type 5 PMID:23487782 MAXO:0000011 physical therapy HP:0005684 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0007688 Myhre Syndrome PMID:28406602 MAXO:0000930 speech therapy HP:0001608 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-11 2023-02-11 +MONDO:0008030 Facioscapulohumeral Muscular Dystrophy 1 PMID:33712050 MAXO:0000112 food antioxidant supplementation HP:0003547 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0008030 Facioscapulohumeral Muscular Dystrophy 1 PMID:33712050 MAXO:0000065 aerobic exercise therapy HP:0003547 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0012589 Pitt-hopkins Syndrome PMID:22934316 MAXO:0000011 physical therapy HP:0001270 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0012589 Pitt-hopkins Syndrome PMID:22934316 MAXO:0000058 pharmacotherapy HP:0002883 TREATS TAS CHEBI:27690 acetazolamide ORCID:0000-0001-5208-3432 2023-02-12 2022-06-10 +OMIM:277480 Von Willebrand Disease, Type 3 PMID:20301765 MAXO:0000446 desmopressin agent therapy HP:0008330 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +OMIM:277480 Von Willebrand Disease, Type 3 PMID:20301765 MAXO:0000445 antifibrinolytic agent therapy HP:0001892 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0008044 Myoclonic Dystonia PMID:21220679 MAXO:0000943 deep brain stimulation HP:0001336 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0008044 Myoclonic Dystonia PMID:21825253 MAXO:0000943 deep brain stimulation HP:0001336 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0014334 Immunodeficiency 22 PMID:9664084 MAXO:0010030 bone marrow transplantation HP:0002721 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0013456 Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency PMID:21310277 MAXO:0001128 folic acid supplementation HP:0001889 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-12 2023-02-12 +MONDO:0013531 Phosphoserine Phosphatase Deficiency PMID:25080166 MAXO:0010021 serine supplementation MONDO:0013531 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-13 2023-02-13 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0009089 stereotactic radiosurgery using Gamma Knife HP:0006880 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2023-02-13 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0009088 stereotactic radiosurgery HP:0006880 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2023-02-13 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0009088 stereotactic radiosurgery HP:0009713 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2023-02-13 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0009089 stereotactic radiosurgery using Gamma Knife HP:0009713 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-16 2023-02-13 +MONDO:0010200 Wilson Disease PMID:20301685 MAXO:0009095 zinc therapy MONDO:0010200 TREATS TAS ORCID:0000-0002-4142-7153 2023-03-04 2023-02-13 +MONDO:0012522 Diabetes Mellitus, Transient Neonatal, 3 PMID:15784703 MAXO:0000743 sulfonylurea agent therapy HP:0008255 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-18 2023-02-18 +MONDO:0012522 Diabetes Mellitus, Transient Neonatal, 3 PMID:15784703 MAXO:0000259 therapeutic insulin treatment HP:0008255 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-18 2023-02-18 +MONDO:0011214 Cholestasis, Progressive Familial Intrahepatic, 3 PMID:9419367 MAXO:0001175 liver transplantation MONDO:0011214 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-21 2023-02-21 +MONDO:0013166 Gaba-transaminase Deficiency PMID:28411234 MAXO:0000905 benzodiazepine agent therapy MONDO:0013166 TREATS TAS CHEBI:5103 flumazenil ORCID:0000-0002-0736-9199 2023-02-23 2023-02-23 +MONDO:0011787 Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 5 PMID:17200494 MAXO:0000065 aerobic exercise therapy HP:0003701 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-24 2023-02-24 +MONDO:0009666 Holocarboxylase Synthetase Deficiency PMID:8319716 MAXO:0010010 biotin supplementation MONDO:0009666 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-25 2023-02-25 +MONDO:0009666 Holocarboxylase Synthetase Deficiency PMID:8319716 MAXO:0000603 peritoneal dialysis MONDO:0009666 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-25 2023-02-25 +MONDO:0012041 Familial Adenomatous Polyposis, 2 PMID:35988966 MAXO:0001213 colorectal polypectomy HP:0005227 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-25 2023-02-25 +MONDO:0012041 Familial Adenomatous Polyposis, 2 PMID:35988966 MAXO:0001042 colectomy HP:0005227 TREATS TAS ORCID:0000-0002-0736-9199 2023-02-25 2023-02-25 +MONDO:0014584 Myasthenic Syndrome, Congenital, 3b, Fast-channel PMID:11435464 MAXO:0000210 cholinesteriase inhibitor therapy HP:0001324 TREATS TAS CHEBI:8665 Pyridostigmine ORCID:0000-0002-0736-9199 2023-02-26 2023-02-26 +MONDO:0020723 Vitamin D-dependent Rickets, Type I PMID:9486994 MAXO:0000110 vitamin D supplementation HP:0002748 TREATS TAS CHEBI:17823 calcitriol ORCID:0000-0002-0736-9199 2023-02-26 2023-02-26 +MONDO:0008104 Noonan Syndrome 1 PMID:11316696 MAXO:0000780 human growth hormone replacement therapy HP:0004322 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-02 2023-03-02 +MONDO:0008104 Noonan Syndrome 1 PMID:15956085 MAXO:0000780 human growth hormone replacement therapy HP:0004322 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-02 2023-03-02 +MONDO:0008104 Noonan Syndrome 1 PMID:11344190 MAXO:0000780 human growth hormone replacement therapy HP:0004322 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-02 2023-03-02 +MONDO:0007947 Marfan Syndrome PMID:8790089 MAXO:0001220 removal of lens HP:0001083 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-13 2023-03-13 +MONDO:0007947 Marfan Syndrome PMID:35902413 MAXO:0000653 angiotensin receptor blocker therapy HP:0002616 TREATS TAS CHEBI:6541 losartan ORCID:0000-0002-0736-9199 2023-03-13 2023-03-13 +MONDO:0009352 Homocystinuria Due To Cystathionine Beta-synthase Deficiency PMID:5658866 MAXO:0001128 folic acid supplementation HP:0002160 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-14 2023-03-14 +MONDO:0010626 Immunodeficiency, X-linked, With Hyper-igm PMID:14663287 MAXO:0000295 immunological agent therapy HP:0002721 TREATS PCS comment: "intravenous immunglobulin" ORCID:0000-0001-9969-9517 2023-04-09 2023-03-14 +MONDO:0010626 Immunodeficiency, X-linked, With Hyper-igm PMID:1757090 MAXO:0000640 corticosteroid agent therapy HP:0001875 TREATS PCS ORCID:0000-0001-9969-9517 2023-04-09 2023-03-14 +MONDO:0008967 Bile Acid Synthesis Defect, Congenital, 4 PMID:12512044 MAXO:0001255 cholic acid supplementation MONDO:0008967 TREATS TAS comment: "Reannotate to Decreased serum bile acid concentra" ORCID:0000-0002-0736-9199 2023-03-15 2023-03-15 +MONDO:0032735 Cataract 48 PMID:30290152 MAXO:0009043 cataract extraction with intraocular lens insertion MONDO:0032735 TREATS TAS comment: "reannotate with HPO Cataract" ORCID:0000-0002-0736-9199 2023-03-15 2023-03-15 +MONDO:0010626 Immunodeficiency, X-linked, With Hyper-igm PMID:7542361 MAXO:0010030 bone marrow transplantation HP:0002721 TREATS PCS ORCID:0000-0001-9969-9517 2023-04-09 2023-03-15 +MONDO:0033558 Autoinflammation, Immune Dysregulation, And Eosinophilia PMID:28111307 MAXO:0009096 Janus kinase inhibitor therapy HP:0001880 TREATS PCS ORCID:0000-0001-9969-9517 2023-04-09 2023-03-15 +MONDO:0010421 Agammaglobulinemia, X-linked PMID:26909497 MAXO:0000061 antibacterial agent therapy HP:0002090 PREVENTS TAS comment: "cotrimoxazole prophylaxis" ORCID:0000-0001-9969-9517 2023-03-16 2023-03-15 +MONDO:0007644 Immunoglobulin A Deficiency 1 PMID:9544978 MAXO:0010030 bone marrow transplantation HP:0002720 TREATS PCS ORCID:0000-0001-9969-9517 2023-03-16 2023-03-16 +MONDO:0009974 Hemophagocytic Lymphohistiocytosis, Familial, 1 PMID:9389690 MAXO:0010030 bone marrow transplantation HP:0012156 TREATS PCS ORCID:0000-0001-9969-9517 2023-03-16 2023-03-16 +MONDO:0009061 Cystic Fibrosis PMID:17018651 MAXO:0000780 human growth hormone replacement therapy HP:0001510 PREVENTS PCS ORCID:0000-0001-9969-9517 2023-03-16 2023-03-16 +MONDO:0011285 Macular Degeneration, Age-related, 1 PMID:14769599 MAXO:0000169 anti-inflammatory agent therapy HP:0000529 TREATS PCS CHEBI:9667 triamcinolone comment: "triamcinoloneacetonide" ORCID:0000-0003-4830-7530 2023-03-16 2023-03-15 +MONDO:0009861 Phenylketonuria PMID:20091517 MAXO:0010094 dietary phenylalanine intake avoidance HP:0004923 TREATS TAS ORCID:0000-0003-4830-7530 2023-03-21 2023-03-16 +MONDO:0010444 Anemia, X-linked, With Or Without Neutropenia And/or Platelet Abnormalities PMID:16783379 MAXO:0010030 bone marrow transplantation HP:0001875 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-21 2023-03-21 +MONDO:0010444 Anemia, X-linked, With Or Without Neutropenia And/or Platelet Abnormalities PMID:20301538 MAXO:0000756 blood transfusion HP:0001972 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-21 2023-03-21 +MONDO:0014306 Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome PMID:25075845 MAXO:0000747 hematopoietic stem cell transplantation HP:0001876 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-23 2023-03-23 +MONDO:0013653 Parkinson Disease 18 PMID:21907011 MAXO:0000157 antiparkinson agent therapy HP:0001300 TREATS TAS CHEBI:15765 L-dopa ORCID:0000-0002-0736-9199 2023-03-27 2023-03-27 +MONDO:0010520 Alport Syndrome, X-linked PMID:9195222 MAXO:0010043 kidney transplantation HP:0003774 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-29 2023-03-29 +MONDO:0010518 Wiskott-aldrich Syndrome PMID:3995178 MAXO:0001077 splenectomy HP:0001873 TREATS PCS ORCID:0000-0001-9969-9517 2023-06-14 2023-03-29 +MONDO:0010518 Wiskott-aldrich Syndrome PMID:21067383 MAXO:0000747 hematopoietic stem cell transplantation HP:0000964 TREATS PCS comment: "genetically modified hematopoietic stem cells" ORCID:0000-0001-9969-9517 2023-06-14 2023-03-29 +MONDO:0010916 Polycystic Kidney Disease 3 PMID:25292408 MAXO:0000603 peritoneal dialysis HP:0000083 TREATS PCS ORCID:0000-0001-9969-9517 2023-04-16 2023-03-29 +MONDO:0009669 Spinal Muscular Atrophy, Type I PMID:31371124 MAXO:0001001 gene therapy HP:0007269 TREATS PCS ORCID:0000-0001-9969-9517 2023-04-16 2023-03-29 +MONDO:0013619 Nephrotic Syndrome, Type 6 PMID:21722858 MAXO:0010043 kidney transplantation HP:0003774 TREATS TAS ORCID:0000-0002-0736-9199 2023-03-31 2023-03-31 +MONDO:0013619 Nephrotic Syndrome, Type 6 PMID:21722858 MAXO:0000640 corticosteroid agent therapy HP:0000100 TREATS TAS CHEBI:6889 methylprednisolone acetate ORCID:0000-0002-0736-9199 2023-03-31 2023-03-31 +MONDO:0013619 Nephrotic Syndrome, Type 6 PMID:21722858 MAXO:0000297 immune suppressant agent therapy HP:0000100 TREATS TAS CHEBI:4031 cyclosporin A ORCID:0000-0002-0736-9199 2023-03-31 2023-03-31 +MONDO:0011518 Wiedemann-steiner Syndrome PMID:35617449 MAXO:0000090 enteral nutrition intake HP:0001508 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-14 2023-04-05 +MONDO:0011518 Wiedemann-steiner Syndrome PMID:35617449 MAXO:0000780 human growth hormone replacement therapy HP:0001510 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-05 +MONDO:0011518 Wiedemann-steiner Syndrome PMID:35617449 MAXO:0000110 vitamin D supplementation HP:0002750 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-05 +MONDO:0012269 Chromosome 3q29 Deletion Syndrome PMID:27656750 MAXO:0000883 cognitive behavior therapy HP:0001249 TREATS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-05 +MONDO:0012269 Chromosome 3q29 Deletion Syndrome PMID:27656750 MAXO:0000732 occupational therapist evaluation HP:0000733 TREATS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-05 +MONDO:0012269 Chromosome 3q29 Deletion Syndrome PMID:27656750 MAXO:0000090 enteral nutrition intake HP:0001508 TREATS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-05 +MONDO:0012342 Williams-beuren Region Duplication Syndrome PMID:26610320 MAXO:0000930 speech therapy HP:0001263 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-05 +MONDO:0012774 Chromosome 15q13.3 Microdeletion Syndrome PMID:21290787 MAXO:0001117 seizure prevention recommendation HP:0001250 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-10 2023-04-05 +MONDO:0012774 Chromosome 15q13.3 Microdeletion Syndrome PMID:21290787 MAXO:0000883 cognitive behavior therapy HP:0000708 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-10 2023-04-05 +MONDO:0011426 Aceruloplasminemia PMID:20301666 MAXO:0001225 iron chelator agent therapy HP:0003281 TREATS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-05 +MONDO:0013869 Adenine Phosphoribosyltransferase Deficiency PMID:22934314 MAXO:0009072 surgical repair HP:0000787 TREATS TAS comment: "Remove kidney stones" ORCID:0000-0003-4830-7530 2023-06-10 2023-04-06 +MONDO:0009958 Refsum Disease PMID:20301527 MAXO:0010119 dietary phytanic acid intake avoidance HP:0001251 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0009958 Refsum Disease PMID:20301527 MAXO:0010119 dietary phytanic acid intake avoidance HP:0007141 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0009958 Refsum Disease PMID:20301527 MAXO:0000097 fasting avoidance HP:0010571 PREVENTS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0011382 Sickle Cell Anemia PMID:36992422 MAXO:0001001 gene therapy MONDO:0011382 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-07 2023-04-07 +MONDO:0011382 Sickle Cell Anemia PMID:25203083 MAXO:0000233 antimetabolite agent therapy HP:0008346 TREATS TAS CHEBI:44423 hydroxyurea ORCID:0000-0003-4830-7530 2023-04-07 2023-04-05 +MONDO:0029132 Liddle Syndrome 3 PMID:28710092 MAXO:0000741 potassium-sparing diuretic agent therapy HP:0000822 TREATS PCS CHEBI:9671 triamterene ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0009216 Fanconi-bickel Syndrome PMID:3153325 MAXO:0000110 vitamin D supplementation HP:0004915 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0009216 Fanconi-bickel Syndrome PMID:3153325 MAXO:0010097 dietary galactose intake avoidance HP:0004915 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0009216 Fanconi-bickel Syndrome PMID:7564233 MAXO:0030018 uncooked cornstarch supplementation HP:0004915 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0008765 Leber Congenital Amaurosis, Type Ii PMID:36672611 MAXO:0001001 gene therapy HP:0007663 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0009216 Fanconi-bickel Syndrome PMID:11044475 MAXO:0030018 uncooked cornstarch supplementation HP:0004915 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0009216 Fanconi-bickel Syndrome PMID:11044475 MAXO:0010097 dietary galactose intake avoidance HP:0004915 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-08 2023-04-08 +MONDO:0010292 Uruguay Faciocardiomusculoskeletal Syndrome PMID:26933038 MAXO:0000187 beta-adrenergic antagonist therapy HP:0001714 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-09 2023-04-09 +MONDO:0007637 Corneal Dystrophy, Fuchs Endothelial, 1 PMID:36637659 MAXO:0000024 surgical procedure on the eye MONDO:0007637 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-16 2023-04-10 +MONDO:0009633 Microspherophakia PMID:20617341 MAXO:0001220 removal of lens HP:0030961 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-10 2023-04-10 +MONDO:0007453 Maturity-onset Diabetes Of The Young, Type Ii PMID:1570017 MAXO:0000743 sulfonylurea agent therapy HP:0004904 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-10 2023-04-10 +MONDO:0024537 Brown-vialetto-van Laere Syndrome 1 PMID:20206331 MAXO:0010016 riboflavin supplementation MONDO:0024537 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-11 2023-04-11 +MONDO:0009215 Fanconi Anemia PMID:20301575 MAXO:0009030 hearing aid usage HP:0000365 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-12 +MONDO:0009215 Fanconi Anemia PMID:20301575 MAXO:0000291 androgen stimulant agent therapy HP:0001873 TREATS TAS comment: "Oral" ORCID:0000-0003-4830-7530 2023-06-15 2023-04-12 +MONDO:0009215 Fanconi Anemia PMID:20301575 MAXO:0000747 hematopoietic stem cell transplantation HP:0001876 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-12 +MONDO:0009215 Fanconi Anemia PMID:20301575 MAXO:0000441 granulocyte colony stimulating factor agent therapy HP:0001875 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-12 +MONDO:0011831 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 PMID:31078652 MAXO:0000185 antiarrythmic agent therapy MONDO:0011831 PREVENTS PCS morgan.similuk@nih.gov 2023-06-16 2023-04-12 +MONDO:0011831 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 PMID:31078652 MAXO:0000802 avoid excessive exercise HP:0001645 PREVENTS TAS morgan.similuk@nih.gov 2023-04-16 2023-04-12 +MONDO:0019569 Cockayne Syndrome A PMID:30252254 MAXO:0001220 removal of lens HP:0000518 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-14 +MONDO:0019569 Cockayne Syndrome A PMID:30252254 MAXO:0000055 sunlight avoidance HP:0003224 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-14 +MONDO:0019570 Cockayne Syndrome, Type B PMID:30252254 MAXO:0001220 removal of lens HP:0000518 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-14 +MONDO:0009613 Methylmalonic Aciduria, Cbla Type PMID:32754920 MAXO:0000760 vitamin B12 supplementation MONDO:0009613 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-15 2023-04-15 +MONDO:0009613 Methylmalonic Aciduria, Cbla Type PMID:32754920 MAXO:0010006 carnitine supplementation MONDO:0009613 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-15 2023-04-15 +MONDO:0007281 Cataract, Crystalline Aculeiform PMID:9718335 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0000519 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-16 2023-04-16 +MONDO:0007285 Cataract 1, Multiple Types PMID:14627691 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0100018 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-16 2023-04-16 +MONDO:0009549 Stargardt Disease 1 PMID:27491360 MAXO:0001001 gene therapy MONDO:0009549 TREATS TAS ORCID:0000-0002-6601-4486 2023-04-16 2023-04-16 +MONDO:0008294 Porphyria, Acute Intermittent PMID:20301372 MAXO:0000092 excessive alcohol avoidance MONDO:0008294 PREVENTS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-06 +MONDO:0011426 Aceruloplasminemia PMID:20301666 MAXO:0010100 dietary iron intake avoidance MONDO:0011426 TREATS TAS ORCID:0000-0003-4830-7530 2023-04-16 2023-04-05 +MONDO:0013700 Pancreatic Lipase Deficiency PMID:24262094 MAXO:0001135 fat-soluble vitamin supplementation MONDO:0013700 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-18 2023-04-18 +MONDO:0011303 Focal Segmental Glomerulosclerosis 1 PMID:26740551 MAXO:0000603 peritoneal dialysis HP:0003774 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-18 2023-04-18 +MONDO:0011303 Focal Segmental Glomerulosclerosis 1 PMID:26740551 MAXO:0010043 whole kidney transplantation HP:0003774 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-18 2023-04-18 +MONDO:0014887 Bone Marrow Failure Syndrome 3 PMID:28062395 MAXO:0001135 fat-soluble vitamin supplementation MONDO:0014887 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-18 2023-04-18 +MONDO:0014896 Muscular Dystrophy, Congenital, Davignon-chauveau Type PMID:27008887 MAXO:0000503 artificial respiration HP:0002747 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-18 2023-04-18 +MONDO:0008876 Bloom Syndrome PMID:20301572 MAXO:0000259 therapeutic insulin treatment HP:0005978 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0016368 Rothmund-thomson Syndrome, Type 1 PMID:20301415 MAXO:0000453 laser ablation therapy HP:0001029 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-10 2023-04-19 +MONDO:0016368 Rothmund-thomson Syndrome, Type 1 PMID:20301415 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0001118 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-10 2023-04-19 +MONDO:0016369 Rothmund-thomson Syndrome PMID:20301415 MAXO:0000453 laser ablation therapy HP:0001009 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0016369 Rothmund-thomson Syndrome PMID:20301415 MAXO:0009043 cataract extraction with intraocular lens insertion HP:0000518 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0008310 Hutchinson-gilford Progeria Syndrome PMID:20301300 MAXO:0000178 anticoagulant agent therapy HP:0001658 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0013921 Herpes Simplex Encephalitis, Susceptibility To, 4 PMID:22105173 MAXO:0000168 antiviral agent therapy HP:0012302 TREATS TAS CHEBI:59495 cidofovir dihydrate ORCID:0000-0002-0736-9199 2023-04-22 2023-04-22 +MONDO:0012014 Charcot-marie-tooth Disease, Recessive Intermediate A PMID:12499475 MAXO:0000482 orthotic device usage HP:0007340 TREATS TAS ORCID:0000-0002-0736-9199 2023-04-22 2023-04-22 +MONDO:0014911 Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy PMID:27426735 MAXO:0010026 zinc supplementation HP:0031831 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-07 2023-05-07 +MONDO:0014647 Epileptic Encephalopathy, Early Infantile, 50 PMID:28007989 MAXO:0010022 uridine supplementation HP:0001250 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-08 2023-05-08 +MONDO:0007494 Episodic Kinesigenic Dyskinesia 1 PMID:23535490 MAXO:0000208 sodium channel inhibitor therapy HP:0002268 TREATS TAS CHEBI:3387 carbamazepine ORCID:0000-0002-0736-9199 2023-05-08 2023-05-08 +MONDO:0007100 Amyloidosis Vii PMID:8097803 MAXO:0001175 liver transplantation HP:0011034 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-09 2023-05-09 +MONDO:0008310 Hutchinson-gilford Progeria Syndrome PMID:34281245 MAXO:0001469 farnesyltransferase inhibitor agent therapy MONDO:0008310 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-05-17 +MONDO:0009109 Lysinuric Protein Intolerance PMID:3917550 MAXO:0010018 citrulline supplementation HP:0004322 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-20 2023-05-20 +MONDO:0009109 Lysinuric Protein Intolerance PMID:18716612 MAXO:0010018 citrulline supplementation HP:0004322 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-20 2023-05-20 +MONDO:0013945 Peroxisome Biogenesis Disorder 9b PMID:17325280 MAXO:0010119 dietary phytanic acid intake avoidance HP:0010571 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-20 2023-05-20 +MONDO:0013945 Peroxisome Biogenesis Disorder 9b PMID:17325280 MAXO:0010032 cardiac transplantation HP:0001638 TREATS TAS ORCID:0000-0002-0736-9199 2023-05-20 2023-05-20 +MONDO:0013499 Fanconi Anemia, Complementation Group P PMID:21240277 MAXO:0000747 hematopoietic stem cell transplantation HP:0001876 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-04 2023-04-12 +MONDO:0012518 Myasthenia, Limb-girdle, With Tubular Aggregates PMID:30635494 MAXO:0000645 acetylcholinesterase inhibitor therapy HP:0003473 TREATS TAS CHEBI:8665 Pyridostigmine ORCID:0000-0002-0736-9199 2023-06-10 2023-06-10 +MONDO:0010421 Agammaglobulinemia, X-linked PMID:26909497 MAXO:0001480 immunoglobulin infusion therapy HP:0004432 TREATS PCS ORCID:0000-0001-9969-9517 2023-06-10 2023-03-15 +MONDO:0008564 Digeorge Syndrome PMID:28400115 MAXO:0010042 thymic transplantation HP:0000777 TREATS PCS comment: "thymus transplantation" ORCID:0000-0001-9969-9517 2023-06-10 2023-03-29 +MONDO:0009437 Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate PMID:9697705 MAXO:0001474 thyroid hormone therapy HP:0000851 TREATS TAS CHEBI:30660 thyroxine ORCID:0000-0002-0736-9199 2023-06-10 2023-06-10 +MONDO:0008221 Prolidase Deficiency PMID:26110198 MAXO:0000756 blood transfusion HP:0001903 TREATS TAS ORCID:0000-0001-5208-3432 2023-06-14 2022-06-11 +MONDO:0008221 Prolidase Deficiency PMID:26110198 MAXO:0010020 amino acid supplementation MONDO:0008221 TREATS TAS CHEBI:26271 proline ORCID:0000-0001-5208-3432 2023-06-14 2022-06-11 +MONDO:0008667 Von Hippel-lindau Syndrome PMID:20301636 MAXO:0000058 pharmacotherapy HP:0009711 TREATS TAS comment: "ranibizumab" ORCID:0000-0002-4142-7153 2023-06-14 2022-08-01 +MONDO:0007037 Achondroplasia PMID:20301331 MAXO:0000479 orthopedic surgery HP:0005733 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0007037 Achondroplasia PMID:20301331 MAXO:0000479 orthopedic surgery HP:0008414 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0009958 Refsum Disease PMID:20301527 MAXO:0010119 dietary phytanic acid intake avoidance HP:0010571 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-15 2023-04-06 +MONDO:0009958 Refsum Disease PMID:20301527 MAXO:0010119 dietary phytanic acid intake avoidance HP:0008064 TREATS TAS ORCID:0000-0002-0736-9199 2023-06-15 2023-06-15 +MONDO:0012180 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PMID:26320108 MAXO:0000474 implantable cardioverter-defibrillator placement HP:0004308 PREVENTS PCS morgan.similuk@nih.gov 2023-06-15 2023-04-12 +MONDO:0012180 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PMID:29084731 MAXO:0000185 antiarrythmic agent therapy HP:0004308 PREVENTS PCS comment: "PMID: 29084731" morgan.similuk@nih.gov 2023-06-15 2023-04-12 +MONDO:0012180 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PMID:31078652 MAXO:0000802 avoid excessive exercise HP:0004308 PREVENTS PCS morgan.similuk@nih.gov 2023-06-15 2023-04-12 +MONDO:0012342 Williams-beuren Region Duplication Syndrome PMID:26610320 MAXO:0001117 seizure prevention recommendation HP:0001250 PREVENTS TAS ORCID:0000-0003-4830-7530 2023-06-16 2023-04-05 +MONDO:0008876 Bloom Syndrome PMID:20301572 MAXO:0000054 radiation exposure avoidance MONDO:0008876 PREVENTS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0008876 Bloom Syndrome PMID:20301572 MAXO:0000055 sunlight avoidance MONDO:0008876 PREVENTS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-18 +MONDO:0008840 Ataxia-telangiectasia PMID:20301790 MAXO:0001480 immunoglobulin infusion therapy HP:0004315 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-19 +MONDO:0007665 Glaucoma, Primary Open Angle PMID:15474813 MAXO:0000960 viscocanalostomy HP:0012108 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-30 +MONDO:0007665 Glaucoma, Primary Open Angle PMID:30488337 MAXO:0000959 canaloplasty HP:0012108 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-30 +MONDO:0007665 Glaucoma, Primary Open Angle PMID:28237137 MAXO:0001082 trabeculectomy HP:0012108 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-30 +MONDO:0010896 Glaucoma-related Pigment Dispersion Syndrome PMID:33444629 MAXO:0000187 beta-adrenergic antagonist therapy HP:0012108 TREATS TAS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-30 +MONDO:0010896 Glaucoma-related Pigment Dispersion Syndrome PMID:33444629 MAXO:0000309 ophthalmic prostaglandin and prostamide agent therapy HP:0012108 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-30 +MONDO:0019570 Cockayne Syndrome, Type B PMID:30252254 MAXO:0000090 enteral nutrition intake HP:0001525 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-14 +MONDO:0019569 Cockayne Syndrome A PMID:30252254 MAXO:0000090 enteral nutrition intake HP:0008850 TREATS TAS ORCID:0000-0003-4830-7530 2023-06-22 2023-04-14 +MONDO:0012043 Corneal Dystrophy, Reis-bucklers Type PMID:36977302 MAXO:0010034 corneal transplantation HP:0001131 TREATS PCS ORCID:0000-0002-6601-4486 2023-06-22 2023-04-17 +MONDO:0009662 Mucopolysaccharidosis Type Vii PMID:29478819 MAXO:0000933 enzyme replacement or supplementation therapy HP:0003541 TREATS TAS ORCID:0000-0002-0736-9199 2023-07-08 2023-07-08 +MONDO:0009662 Mucopolysaccharidosis Type Vii PMID:9543069 MAXO:0001479 allogeneic hematopoietic stem cell transplantation HP:0003541 TREATS TAS ORCID:0000-0002-0736-9199 2023-07-08 2023-07-08 +MONDO:0021056 Adenomatous Polyposis Coli PMID:20301519 MAXO:0000014 radiation therapy HP:0100245 TREATS TAS ORCID:0000-0001-7941-2961 2023-07-08 2022-01-25 +MONDO:0021056 Adenomatous Polyposis Coli PMID:20301519 MAXO:0000646 cancer chemotherapy HP:0100245 TREATS TAS ORCID:0000-0001-7941-2961 2023-07-08 2022-01-25 +MONDO:0021056 Adenomatous Polyposis Coli PMID:20301519 MAXO:0000635 anti-estrogen agent therapy HP:0100245 TREATS TAS ORCID:0000-0001-7941-2961 2023-07-08 2022-01-25 +MONDO:0021056 Adenomatous Polyposis Coli PMID:20301519 MAXO:0000221 nonsteroidal anti-inflammatory agent therapy HP:0100245 TREATS TAS ORCID:0000-0001-7941-2961 2023-07-08 2022-01-25 +MONDO:0011971 Immunodeficiency With Hyper-igm, Type 5 PMID:12958596 MAXO:0001480 immunoglobulin infusion therapy HP:0004315 TREATS TAS ORCID:0000-0002-0736-9199 2023-07-11 2023-07-11 +MONDO:0100079 Epileptic Encephalopathy, Early Infantile, 6 (dravet Syndrome) PMID:9596203 MAXO:0000208 sodium channel inhibitor therapy HP:0032794 CONTRAINDICATED TAS CHEBI:6367 lamotrigine comment: "Seizures can worsen on withdrawing lamotrigine." ORCID:0000-0002-1735-8178 2023-07-12 2023-07-12 diff --git a/docs/index.rst b/docs/index.rst index bee4b78..066cb99 100644 --- a/docs/index.rst +++ b/docs/index.rst @@ -4,7 +4,8 @@ MAxO Annotations ================ -This repository contains annotations for the +The `maxo-annotations repository `_ +contains annotations for the `Medical Action Ontology `_ project. @@ -41,6 +42,8 @@ the `POET `_ tool. relations adding guidelines + format_diagnostic + format_annots team