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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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X-linked non-syndromic neurosensory deafness type DFN
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Orphanet_90625 |
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Isolated mitochondrial neurosensory hearing loss
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Orphanet_90641 |
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Mitochondrial non-syndromic neurosensory hearing loss
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Orphanet_90641 |
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X-linked isolated neurosensory hearing loss type DFN
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Orphanet_90625 |
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X-linked non-syndromic neurosensory hearing loss type DFN
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Orphanet_90625 |
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Autosomal dominant non-syndromic neurosensory deafness type DFNA
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Orphanet_90635 |
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Rare mitochondrial non-syndromic sensorineural deafness
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Orphanet_90641 |
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Rare X-linked non-syndromic sensorineural deafness type DFN
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Orphanet_90625 |
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Parkinson-dementia complex of Guam
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Orphanet_90020 |
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Cutaneous mucinosis of infancy
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Orphanet_90395 |
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Papular mucinosis of infancy
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Orphanet_90395 |
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Inflammatory pseudotumor of the liver
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Orphanet_90003 |
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Hypotrichosis simplex of the scalp
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Orphanet_90368 |
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Lupus erythematosus panniculitis
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Orphanet_90285 |
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Acral persistent papular mucinosis
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Orphanet_90396 |
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