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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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CEVD
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Orphanet_231573 |
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PUAH
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Orphanet_231580 |
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Johanson-Blizzard syndrome
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Orphanet_2315 |
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Generalized DDEB
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Orphanet_231568 |
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Late-onset localized JEB-intellectual disability syndrome
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Orphanet_231556 |
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Primary unilateral adrenal hyperplasia
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Orphanet_231580 |
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Congenital erosive and vesicular dermatosis
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Orphanet_231573 |
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Hermansky-Pudlak syndrome due to BLOC-1 deficiency
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Orphanet_231531 |
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Hermansky-Pudlak syndrome due to BLOC-2 deficiency
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Orphanet_231512 |
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Hermansky-Pudlak syndrome due to BLOC-3 deficiency
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Orphanet_231500 |
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Autosomal dominant generalized dystrophic epidermolysis bullosa
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Orphanet_231568 |
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HPS with pulmonary fibrosis
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Orphanet_231500 |
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HPS without pulmonary fibrosis
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Orphanet_231512 |
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Hermansky-Pudlak syndrome with pulmonary fibrosis
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Orphanet_231500 |
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Hermansky-Pudlak syndrome without pulmonary fibrosis
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Orphanet_231512 |
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