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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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CMT1E
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Orphanet_90658 |
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Eczema-thrombocytopenia-immunodeficiency syndrome
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Orphanet_906 |
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Wiskott-Aldrich syndrome
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Orphanet_906 |
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Deafness-hypogonadism syndrome
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Orphanet_90646 |
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Taybi syndrome
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Orphanet_90650 |
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Genetic panhypopituitarism
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Orphanet_90695 |
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Non-acquired panhypopituitarism
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Orphanet_90695 |
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OPD syndrome 1
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Orphanet_90650 |
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OPD syndrome 2
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Orphanet_90652 |
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Jervell and Lange-Nielsen syndrome
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Orphanet_90647 |
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Syndromic genetic deafness
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Orphanet_90642 |
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Isolated TSH deficiency
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Orphanet_90674 |
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Isolated thyrotropin deficiency
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Orphanet_90674 |
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Rare endocrine growth disease
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Orphanet_90692 |
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Syndromic genetic hearing loss
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Orphanet_90642 |
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