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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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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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Juvenile temporal arteritis
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Orphanet_26137 |
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Nail-patella-like renal disease
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Orphanet_2613 |
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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 22q11.2 microduplication syndrome
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Orphanet_261337 |
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Partial duplication of chromosome 20p
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Orphanet_261318 |
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Partial trisomy of chromosome 20p
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Orphanet_261318 |
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Partial duplication of the short arm of chromosome 20
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Orphanet_261318 |
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Partial trisomy of the short arm of chromosome 20
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Orphanet_261318 |
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20q13.33 microdeletion syndrome
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Orphanet_261311 |
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21q22.11q22.12 microdeletion syndrome
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Orphanet_261323 |
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2p15p16.1 microdeletion syndrome
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Orphanet_261349 |
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