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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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Microcephalic primordial dwarfism, Montreal type
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Orphanet_2617 |
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Emery-Dreifuss muscular dystrophy
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Orphanet_261 |
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Hereditary diffuse gastric adenocarcinoma
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Orphanet_26106 |
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Familial diffuse gastric cancer
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Orphanet_26106 |
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Hereditary diffuse gastric cancer
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Orphanet_26106 |
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Xp21 contiguous gene deletion syndrome
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Orphanet_261476 |
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Complex glycerol kinase deficiency
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Orphanet_261476 |
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15q11.2 BP1-BP2 microdeletion syndrome
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Orphanet_261183 |
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Proximal 16p11.2 microdeletion syndrome
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Orphanet_261197 |
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Distal 16p11.2 microdeletion syndrome
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Orphanet_261222 |
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Distal 17p13.3 microdeletion syndrome
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Orphanet_261257 |
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Paternal 20q13.2q13.3 microdeletion syndrome
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Orphanet_261304 |
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Distal 22q11.2 microdeletion syndrome
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Orphanet_261330 |
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Distal 7q11.23 microduplication syndrome
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Orphanet_261102 |
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Distal 22q11.2 microduplication syndrome
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Orphanet_261337 |
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