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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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CID due to Moesin deficiency
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Orphanet_504530 |
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Leukodystrophy due to alkaline ceramidase 3 deficiency
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Orphanet_502444 |
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Functioning neuroendocrine tumor of pancreas
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Orphanet_506060 |
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Non-functioning neuroendocrine tumor of pancreas
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Orphanet_506075 |
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Serotonin-producing neuroendocrine tumor of pancreas
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Orphanet_506090 |
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Chondrodysplasia, Blomstrand type
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Orphanet_50945 |
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Oral-facial-digital syndrome type 18
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Orphanet_508501 |
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Orofaciodigital syndrome type 18
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Orphanet_508501 |
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Trichorhinophalangeal syndrome type 2
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Orphanet_502 |
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3-methylglutaconic aciduria type 8
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Orphanet_505208 |
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3-methylglutaconic aciduria type 9
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Orphanet_505216 |
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Keratosis palmoplantaris varians of Wachters
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Orphanet_50942 |
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Cerebellar ataxia with bilateral vestibulopathy syndrome
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Orphanet_504476 |
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Intermediate EBS with cardiomyopathy
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Orphanet_508529 |
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Noonan syndrome with multiple lentigines
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Orphanet_500 |
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