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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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Xanthous oculocutaneous albinism
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Orphanet_79433 |
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Platinum oculocutaneous albinism
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Orphanet_79434 |
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Yellow oculocutaneous albinism
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Orphanet_79434 |
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Protoporphyrinogen oxidase deficiency
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Orphanet_79473 |
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AHO-PHP syndrome Ia
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Orphanet_79443 |
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Intermediate generalized JEB
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Orphanet_79402 |
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Severe generalized JEB
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Orphanet_79404 |
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Transient bullous dermolysis of the newborn
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Orphanet_79411 |
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Severe generalized RDEB
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Orphanet_79408 |
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X-linked congenital generalized hypertrichosis
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Orphanet_79495 |
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Generalized atrophic benign epidermolysis bullosa
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Orphanet_79402 |
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Junctional epidermolysis bullosa generalisata gravis
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Orphanet_79404 |
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Junctional epidermolysis bullosa generalisata mitis
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Orphanet_79402 |
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Junctional epidermolysis bullosa inversa
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Orphanet_79405 |
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Localized epidermolysis bullosa simplex
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Orphanet_79400 |
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