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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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11-beta-hydroxysteroid dehydrogenase deficiency type 1
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Orphanet_168588 |
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Fatal mitochondrial disease due to COXPD3
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Orphanet_168566 |
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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
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Orphanet_168563 |
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X-linked spondylometaphyseal dysplasia
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Orphanet_168544 |
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Axial spondylometaphyseal dysplasia
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Orphanet_168549 |
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Native American myopathy
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Orphanet_168572 |
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Congenital myopathy-cleft palate-malignant hyperthermia syndrome
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Orphanet_168572 |
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XY sex reversal-adrenal failure
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Orphanet_168558 |
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Hyperandrogenism due to cortisone reductase deficiency
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Orphanet_168588 |
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Hereditary cryohydrocytosis type 2
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Orphanet_168577 |
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Hereditary cryohydrocytosis with reduced stomatin
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Orphanet_168577 |
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