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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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HSD10 deficiency, neonatal type
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Orphanet_391457 |
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HSD10 disease, neonatal type
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Orphanet_391457 |
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MHBD deficiency, neonatal type
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Orphanet_391457 |
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Fatal post-viral neurodegenerative disorder
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Orphanet_391343 |
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Mucinous adenocarcinoma of the appendix
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Orphanet_391723 |
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Familial episodic pain syndrome
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Orphanet_391384 |
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Atypical juvenile parkinsonism
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Orphanet_391411 |
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Predisposition to severe viral infection due to STAT1 deficiency
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Orphanet_391311 |
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Brachydactyly-short stature-microcephaly syndrome
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Orphanet_391646 |
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Frontonasal dysplasia type 1
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Orphanet_391474 |
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Brunner-Winter syndrome type 1
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Orphanet_391641 |
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Feingold syndrome type 1
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Orphanet_391641 |
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MODED syndrome type 1
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Orphanet_391641 |
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ODED syndrome type 1
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Orphanet_391641 |
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Oculo-digito-esophageal-duodenal syndrome type 1
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Orphanet_391641 |
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