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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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Albright hereditary osteodystrophy-PHP syndrome Ia
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Orphanet_79443 |
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Albright hereditary osteodystrophy-PPHP syndrome
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Orphanet_79445 |
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Localized DEB, pretibial form
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Orphanet_79410 |
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Epidermolysis bullosa progressiva
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Orphanet_79406 |
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JEB with pyloric atresia
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Orphanet_79403 |
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Generalized RDEB, severe form
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Orphanet_79408 |
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Epidermolysis bullosa simplex of palms and soles
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Orphanet_79400 |
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Epidermolysis bullosa simplex, Weber-Cockayne type
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Orphanet_79400 |
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Atypical Werner syndrome
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Orphanet_79474 |
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Atypical progeroid syndrome
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Orphanet_79474 |
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Hypopigmentation-neurologic impairment syndrome
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Orphanet_79476 |
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CYLD cutaneous syndrome
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Orphanet_79493 |
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RDEB, Hallopeau-Siemens type
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Orphanet_79408 |
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Griscelli syndrome type 1
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Orphanet_79476 |
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Griscelli-Pruniéras syndrome type 1
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Orphanet_79476 |
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