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
Confetti-like macular atrophy Orphanet_221142
Maternal hyperthermia-induced birth defects Orphanet_2216
Familial cerebral cavernoma Orphanet_221061
Hereditary cerebral cavernoma Orphanet_221061
Familial brain cavernous angioma Orphanet_221061
Hereditary brain cavernous angioma Orphanet_221061
Familial cerebral cavernous malformation Orphanet_221061
Hereditary cerebral cavernous malformation Orphanet_221061
Autosomal recessive cutis laxa type 1C Orphanet_221145
Combined hyperactive dysfunction syndrome of the cranial nerves Orphanet_221078
Cerebral proliferative glomeruloid vasculopathy Orphanet_221126
Multiple pterygium-malignant hyperthermia syndrome Orphanet_2215
Acquired peripheral movement disorder Orphanet_221114
Cervical hypertrichosis-peripheral neuropathy syndrome Orphanet_2218
Poikiloderma with neutropenia Orphanet_221046