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
AD OSMED Orphanet_166100
Acrokeratosis paraneoplastica Orphanet_166113
Bazex syndrome Orphanet_166113
Isolated osteopoikilosis Orphanet_166119
Acrokeratosis of Bazex Orphanet_166113
Intellectual disability, Birk-Barel type Orphanet_166108
X-linked corneal dermoid Orphanet_1661
Intellectual disability-hypotonia-facial dysmorphism syndrome Orphanet_166108
Corneal dystrophy epithelial-short stature syndrome Orphanet_1661
FASTKD2-related infantile mitochondrial encephalomyopathy Orphanet_166105
Stickler syndrome, non-ocular type Orphanet_166100
Acrokeratosis paraneoplastica of Bazex Orphanet_166113
Autosomal dominant otospondylomegaepiphyseal dysplasia Orphanet_166100
Guízar Vázquez-Luengas-Muñoz syndrome Orphanet_1661
Stickler syndrome type 3 Orphanet_166100