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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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Neonatal renal venous thrombosis
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Orphanet_664912 |
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Transient left ventricular apical ballooning syndrome
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Orphanet_66529 |
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Primary cutis verticis gyrata
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Orphanet_671 |
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Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
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Orphanet_644 |
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Multiple evanescent white dot syndrome
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Orphanet_674953 |
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Non-syndromic ARM with H-type fistula
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Orphanet_601033 |
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Non-syndromic ARM with anal stenosis
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Orphanet_601008 |
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Fetomaternal alloimmunization with antenatal glomerulopathies
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Orphanet_69063 |
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Dilated cardiomyopathy with ataxia
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Orphanet_66634 |
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Spinocerebellar ataxia with axonal neuropathy type 2
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Orphanet_64753 |
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Non-syndromic ARM with bladder neck fistula
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Orphanet_600984 |
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Non-syndromic ARM with cutaneous fistula
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Orphanet_600952 |
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Angiolymphoid hyperplasia with eosinophilia
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Orphanet_675396 |
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POF associated with fragile X premutation
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Orphanet_642691 |
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POI associated with fragile X premutation
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Orphanet_642691 |
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