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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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Ring chromosome 8
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Orphanet_1450 |
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Ring chromosome 8 syndrome
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Orphanet_1450 |
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Brachydactyly type B2
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Orphanet_140908 |
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Isolated CoQ-cytochrome C reductase deficiency
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Orphanet_1460 |
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Isolated ubiquinone-cytochrome C reductase deficiency
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Orphanet_1460 |
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Oral-facial-digital syndrome, Gabrielli type
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Orphanet_141000 |
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Orofaciodigital syndrome, Gabrielli type
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Orphanet_141000 |
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Skeletal dysplasia, Greenberg type
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Orphanet_1426 |
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Carbamoyl-phosphate synthetase I deficiency
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Orphanet_147 |
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Isolated complex III deficiency
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Orphanet_1460 |
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Palmoplantar hyperkeratosis, Nagashima type
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Orphanet_140966 |
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Palmoplantar keratoderma, Nagashima type
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Orphanet_140966 |
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Isolated coenzyme Q-cytochrome C reductase deficiency
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Orphanet_1460 |
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Titin-related LGMD R10
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Orphanet_140922 |
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Corpus callosum agenesis-cataract-immunodeficiency syndrome
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Orphanet_1493 |
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