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
HA20-related monogenic Behcet-like disease Orphanet_674762
Deficiency in ELF4, X-linked Orphanet_676125
Mucopolysaccharidosis type IX Orphanet_67041
Stellate multiform amelanotic choroidopathy Orphanet_674958
Congenital dyserythropoietic anemia with thombocytopenia Orphanet_67044
Littoral cell angioma Orphanet_673538
Isolated retinal arteriovenous aneurysm 3 Orphanet_674924
Classic pilocytic astrocytoma Orphanet_673580
Juvenile pilocytic astrocytoma Orphanet_673580
Anaplastic pilocytic astrocytoma Orphanet_673585
Costeff optic atrophy syndrome Orphanet_67047
Infantile optic atrophy with chorea and spastic paraplegia Orphanet_67047
Atypical macular coloboma Orphanet_674935
Thrombocytopenia with congenital dyserythropoietic anemia Orphanet_67044
TCF12-related syndromic craniosynostosis Orphanet_672979