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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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Bessel-Hagen disease
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Orphanet_321 |
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Multiple osteochondromas
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Orphanet_321 |
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Warburg-Thomsen syndrome
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Orphanet_3214 |
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Mengel-Konigsmark syndrome
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Orphanet_3216 |
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Groll-Hirschowitz syndrome
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Orphanet_3217 |
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Chitty-Hall-Baraitser syndrome
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Orphanet_3218 |
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Fountain syndrome
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Orphanet_3219 |
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Hearing loss-small bowel diverticulosis-neuropathy syndrome
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Orphanet_3217 |
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Deafness-small bowel diverticulosis-neuropathy syndrome
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Orphanet_3217 |
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Hearing loss-skeletal dysplasia-lip granuloma syndrome
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Orphanet_3219 |
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Hearing loss-epiphyseal dysplasia-short stature syndrome
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Orphanet_3218 |
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Multiple cartilaginous exostoses
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Orphanet_321 |
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Conductive deafness-malformed external ear syndrome
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Orphanet_3216 |
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Deafness-skeletal dysplasia-coarse face with full lips syndrome
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Orphanet_3219 |
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Deafness-skeletal dysplasia-lip granuloma syndrome
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Orphanet_3219 |
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