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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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Long QT interval-deafness syndrome
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Orphanet_90647 |
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Long QT interval-hearing loss syndrome
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Orphanet_90647 |
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Autosomal dominant isolated neurosensory deafness type DFNA
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Orphanet_90635 |
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Autosomal recessive isolated neurosensory deafness type DFNB
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Orphanet_90636 |
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Autosomal dominant isolated neurosensory hearing loss type DFNA
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Orphanet_90635 |
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Autosomal recessive isolated neurosensory hearing loss type DFNB
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Orphanet_90636 |
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Autosomal dominant isolated sensorineural deafness type DFNA
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Orphanet_90635 |
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Autosomal recessive isolated sensorineural deafness type DFNB
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Orphanet_90636 |
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Autosomal dominant isolated sensorineural hearing loss type DFNA
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Orphanet_90635 |
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Deafness with labyrinthine aplasia, microtia, and microdontia
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Orphanet_90024 |
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Discrete papular lichen myxedematosus
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Orphanet_90394 |
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Pressure-induced localized lipoatrophy
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Orphanet_90160 |
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Drug-induced localized lipodystrophy
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Orphanet_90157 |
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Idiopathic localized lipodystrophy
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Orphanet_90158 |
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Panniculitis-induced localized lipodystrophy
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Orphanet_90159 |
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