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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.
PLA2G4A-related platelet dysfunction
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Orphanet_477787 |
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Limb-girdle muscular dystrophy 2X
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Orphanet_476084 |
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Asphyxiating thoracic dystrophy of the newborn
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Orphanet_474 |
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PMP22-RAI1 contiguous gene duplication syndrome
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Orphanet_477817 |
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Primary condylar hyperplasia
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Orphanet_477781 |
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Congenital hypogonadotropic hypogonadism with anosmia
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Orphanet_478 |
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TFRC-related combined immunodeficiency
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Orphanet_476113 |
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IL21-related infantile inflammatory bowel disease
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Orphanet_477661 |
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Type 1 interferonopathy
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Orphanet_477647 |
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Lysinuric protein intolerance
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Orphanet_470 |
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Genetic cardiac malformation
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Orphanet_477805 |
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Axonal hereditary motor and sensory neuropathy
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Orphanet_476109 |
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Demyelinating hereditary motor and sensory neuropathy
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Orphanet_476116 |
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Intermediate hereditary motor and sensory neuropathy
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Orphanet_476123 |
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PMP2-related hereditary motor and sensory neuropathy type 1
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Orphanet_476394 |
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