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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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Duplication of 20p
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Orphanet_261318 |
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Pure partial 20p deletion
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Orphanet_261992 |
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Paternal monosomy 20q13.2q13.3
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Orphanet_261304 |
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Distal monosomy 22q11.2
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Orphanet_261330 |
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Distal trisomy 22q11.2
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Orphanet_261337 |
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Distal trisomy 7q11.23
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Orphanet_261102 |
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Bird-headed dwarfism, Montreal type
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Orphanet_2617 |
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Brachydactylous dwarfism, Mseleni type
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Orphanet_2619 |
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Ring chromosome Y
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Orphanet_261529 |
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Ring chromosome Y syndrome
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Orphanet_261529 |
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Juvenile temporal arteritis
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Orphanet_26137 |
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Familial diffuse cancer of stomach
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Orphanet_26106 |
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Hereditary diffuse cancer of stomach
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Orphanet_26106 |
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Familial polyposis coli due to monosomy 5q22.2
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Orphanet_261584 |
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Nail-patella-like renal disease
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Orphanet_2613 |
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