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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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Genetic cardiac rhythm disease
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Orphanet_101934 |
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Unilateral hemispheric polymicrogyria
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Orphanet_101071 |
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PPK-CA, Stevanovic type
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Orphanet_1010 |
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X-linked Alport syndrome-diffuse leiomyomatosis
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Orphanet_1018 |
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APV/ADA, Fallot type
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Orphanet_101206 |
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PVA/ADA, Fallot type
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Orphanet_101206 |
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Hyper-IgM syndrome type 1
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Orphanet_101088 |
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Porphyria cutanea tarda
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Orphanet_101330 |
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Charcot-Marie-Tooth disease type 1A
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Orphanet_101081 |
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Anomaly of the mitral subvalvular apparatus
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Orphanet_101932 |
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Charcot-Marie-Tooth disease type 1B
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Orphanet_101082 |
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Charcot-Marie-Tooth disease type 1C
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Orphanet_101083 |
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Autosomal recessive spastic paraplegia type 20
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Orphanet_101000 |
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Autosomal recessive spastic paraplegia type 21
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Orphanet_101001 |
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Autosomal recessive spastic paraplegia type 23
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Orphanet_101003 |
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