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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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Cutaneous lymphangioma circumscriptum
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Orphanet_79490 |
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Autosomal dominant deafness-onychodystrophy syndrome
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Orphanet_79499 |
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Protoporphyrinogen oxidase deficiency
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Orphanet_79473 |
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Transient bullous dermolysis of the newborn
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Orphanet_79411 |
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Late-onset junctional epidermolysis bullosa
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Orphanet_79406 |
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Self-improving dystrophic epidermolysis bullosa
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Orphanet_79411 |
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Recessive dystrophic epidermolysis bullosa inversa
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Orphanet_79409 |
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Generalized junctional epidermolysis bullosa, non-Herlitz type
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Orphanet_79402 |
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Localized dystrophic epidermolysis bullosa, pretibial form
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Orphanet_79410 |
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X-linked congenital generalized hypertrichosis
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Orphanet_79495 |
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RDEB generalisata gravis
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Orphanet_79408 |
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Autosomal dominant hearing loss-onychodystrophy syndrome
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Orphanet_79499 |
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Congenital generalized hypertrichosis, Macias-Flores type
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Orphanet_79495 |
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Intermediate generalized junctional epidermolysis bullosa
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Orphanet_79402 |
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Severe generalized junctional epidermolysis bullosa
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Orphanet_79404 |
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