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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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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Orphanet_69735 |
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Navajo brainstem syndrome
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Orphanet_69739 |
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Pearson marrow-pancreas syndrome
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Orphanet_699 |
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Early-onset autoinflammatory syndrome associated with TNFAIP3
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Orphanet_674762 |
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Aortic aneurysm syndrome due to TGF-beta receptors anomalies
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Orphanet_60030 |
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Long QT syndrome type 8
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Orphanet_65283 |
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Genetic autoinflammatory syndrome with skin involvement
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Orphanet_622720 |
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Long QT syndrome-syndactyly syndrome
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Orphanet_65283 |
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X-linked severe syndromic TAAD
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Orphanet_622925 |
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Non-syndromic anterior synostotic plagiocephaly
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Orphanet_620102 |
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Non-syndromic posterior synostotic plagiocephaly
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Orphanet_620113 |
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Pigmented villonodular synovitis
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Orphanet_66627 |
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Functional methionine synthase deficiency
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Orphanet_622 |
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Central nervous system tuberculosis
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Orphanet_641396 |
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Macrocephaly-cutis marmorata telangiectatica congenita syndrome
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Orphanet_60040 |
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