ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
Autosomal dominant optic atrophy Orphanet_98672
Early-onset X-linked optic atrophy Orphanet_98890
Non-Leber type optic atrophy with early-onset Orphanet_98890
Autosomal dominant optic atrophy, Kjer type Orphanet_98673
Autosomal dominant optic atrophy, classic form Orphanet_98673
Coloboma of optic disc Orphanet_98947
Coloboma of optic papilla Orphanet_98947
Pulmonary artery or pulmonary branch anomaly Orphanet_98719
Rare systemic or rheumatologic disease Orphanet_98023
Southeast Asian ovalocytosis Orphanet_98868
Congenital CNIV palsy Orphanet_98686
Inverse Marcus-Gunn phenomenon Orphanet_98951
Syndromic retinitis pigmentosa Orphanet_98661
Idiopathic interstitial pneumonia Orphanet_98300
Desquamative interstitial pneumonia Orphanet_98852