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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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MIH type HPE
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Orphanet_93926 |
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X-linked intellectual disability, Golabi-Ito-Hall type
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Orphanet_93947 |
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X-linked intellectual disability, Hedera type
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Orphanet_93952 |
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X-linked intellectual disability, Porteous type
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Orphanet_93945 |
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X-linked intellectual disability, Sutherland-Haan type
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Orphanet_93950 |
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Familial thyroglossal duct cyst
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Orphanet_93953 |
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Open spinal dysraphism with a myelomeningocele
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Orphanet_93969 |
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Middle interhemispheric fusion variant
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Orphanet_93926 |
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Classic exstrophy of the bladder
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Orphanet_93930 |
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Hamel cerebro-palato-cardiac syndrome
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Orphanet_93946 |
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Blepharospasm-oromandibular dystonia syndrome
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Orphanet_93964 |
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FG syndrome type 1
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Orphanet_93932 |
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Laryngo-tracheo-esophageal cleft type 1
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Orphanet_93938 |
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Laryngotracheoesophageal cleft type 1
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Orphanet_93938 |
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Laryngo-tracheo-esophageal cleft type 2
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Orphanet_93939 |
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