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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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Symptomatic form of XLCNM in female carriers
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Orphanet_604680 |
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Symptomatic form of XLMTM in female carriers
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Orphanet_604680 |
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Combined deficiency of factor VII and factor X
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Orphanet_600691 |
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Pudendal neuropathic pain syndrome
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Orphanet_60039 |
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Recurrent respiratory papillomatosis
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Orphanet_60032 |
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Foramina parietalia permagna
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Orphanet_60015 |
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KLHL7-related Crisponi/cold-induced sweating-like syndrome
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Orphanet_603694 |
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Fenestrae parietales symmetricae
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Orphanet_60015 |
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Macrocephaly-capillary malformation syndrome
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Orphanet_60040 |
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Megalencephaly-capillary malformation syndrome
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Orphanet_60040 |
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Megalencephaly-capillary malformation-polymicrogyria syndrome
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Orphanet_60040 |
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KLHL7-related BOS-like syndrome
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Orphanet_603689 |
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KLHL7-related Bohring-Opitz-like syndrome
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Orphanet_603689 |
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KLHL7-related Crisponi-like syndrome
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Orphanet_603694 |
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Aortic aneurysm syndrome due to TGF-beta receptors anomalies
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Orphanet_60030 |
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