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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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APS2
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Orphanet_3143 |
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Dup(X)(q12-q13.3)
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Orphanet_314389 |
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HSAN6
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Orphanet_314381 |
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Schmidt syndrome
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Orphanet_3143 |
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Kaya-Prontera syndrome
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Orphanet_314389 |
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SOFT syndrome
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Orphanet_314394 |
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APS type 2
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Orphanet_3143 |
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Hereditary sensory and autonomic neuropathy type 6
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Orphanet_314381 |
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Hereditary sensory and autonomic neuropathy type VI
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Orphanet_314381 |
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Autosomal dominant aplasia and myelodysplasia
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Orphanet_314399 |
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Autosomal dominant aplastic anemia and myelodysplasia
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Orphanet_314399 |
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Meconium ileus due to guanylate cyclase 2C deficiency
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Orphanet_314376 |
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Xq12-q13.3 duplication syndrome
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Orphanet_314389 |
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Autoimmune polyendocrine syndrome type 2
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Orphanet_3143 |
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Autoimmune polyglandular syndrome type 2
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Orphanet_3143 |
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