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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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Cowchock syndrome
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Orphanet_101078 |
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Microduplication 17p12
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Orphanet_101081 |
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AID deficiency
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Orphanet_101089 |
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FHH type 2
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Orphanet_101049 |
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FHH type 3
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Orphanet_101050 |
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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
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Orphanet_101097 |
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Romano-Ward long QT syndrome
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Orphanet_101016 |
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Autosomal recessive axonal CMT4C4
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Orphanet_101097 |
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Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
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Orphanet_101097 |
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Congenital stromal corneal dystrophy
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Orphanet_101068 |
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Activation-induced cytidine deaminase deficiency
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Orphanet_101089 |
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GM2 synthase deficiency
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Orphanet_101006 |
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X-linked Charcot-Marie-Tooth disease type 1
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Orphanet_101075 |
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X-linked Charcot-Marie-Tooth disease type 2
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Orphanet_101076 |
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X-linked Charcot-Marie-Tooth disease type 3
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Orphanet_101077 |
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