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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
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Lissencephaly type 2
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Orphanet_51577 |
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Familial short QT syndrome
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Orphanet_51083 |
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Autosomal recessive anterior segment dysgenesis
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Orphanet_519388 |
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Idiopathic infantile arterial calcification
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Orphanet_51608 |
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Idiopathic obliterative arteriopathy
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Orphanet_51608 |
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Occlusive infantile arteriopathy
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Orphanet_51608 |
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Congenital cerebellar ataxia due to RNU12 mutation
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Orphanet_512260 |
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Encephalopathy with basal ganglia calcification
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Orphanet_51 |
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Generalized arterial calcification of infancy
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Orphanet_51608 |
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Rare inflammatory/autoimmune corneal disorder
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Orphanet_519290 |
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HPRT complete deficiency
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Orphanet_510 |
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Arylsulfatase A deficiency
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Orphanet_512 |
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Formiminotransferase cyclodeaminase deficiency
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Orphanet_51208 |
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Glutamate formiminotransferase deficiency
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Orphanet_51208 |
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Terrien marginal degeneration
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Orphanet_519410 |
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