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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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Spondylometaphyseal dysplasia, Sedaghatian-like type
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Orphanet_622934 |
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Follicular helper T-cell lymphoma, follicular type
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Orphanet_652650 |
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Distal myopathy, Udd type
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Orphanet_609 |
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Intermediate collagen VI-related muscular dystrophy
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Orphanet_646113 |
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Syndrome de Volkmann congénital
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Orphanet_641829 |
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Nabais Sa-de Vries type 1 syndrome
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Orphanet_662179 |
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Nabais Sa-de Vries type 2 syndrome
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Orphanet_662175 |
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Distal myopathy, Welander type
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Orphanet_603 |
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Chronic neurovisceral acid sphingomyelinase deficiency
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Orphanet_618891 |
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Isolated micronodular adrenocortical disease
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Orphanet_647782 |
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AMKL in adult
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Orphanet_662934 |
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Gamstorp episodic adynamy
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Orphanet_682 |
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Congenital central alveolar hypoventilation syndrome
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Orphanet_661 |
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Leber congenital amaurosis
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Orphanet_65 |
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Stellate multiform amelanotic choroidopathy
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Orphanet_674958 |
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