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
Generalized eruptive histiocytoma Orphanet_157991
Non-Langerhans cell histiocytosis Orphanet_157987
Generalized eruptive histiocytosis Orphanet_157991
Benign cephalic histiocytosis Orphanet_157997
Common variable immunodeficiency Orphanet_1572
Incomplete situs inversus Orphanet_157769
Partial situs inversus Orphanet_157769
Hypotrichosis with juvenile macular degeneration Orphanet_1573
Hypotrichosis with juvenile macular dystrophy Orphanet_1573
LMNA-related congenital muscular dystrophy Orphanet_157973
Infantile striatonigral necrosis Orphanet_1576
Pantothenate kinase-associated neurodegeneration Orphanet_157850
Congenital pseudoarthrosis of the limbs Orphanet_157808
Isolated pseudoarthrosis of the limbs Orphanet_157808
Hereditary mixed polyposis syndrome Orphanet_157794