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| created at |
2024-09-23 16:23:50 UTC |
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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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Apparent mineralocorticoid excess
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Orphanet_320 |
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Maternally-inherited spastic paraplegia
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Orphanet_320360 |
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Isolated succinate-CoQ reductase deficiency
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Orphanet_3208 |
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Isolated succinate-ubiquinone reductase deficiency
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Orphanet_3208 |
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Isolated mitochondrial respiratory chain complex II deficiency
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Orphanet_3208 |
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X-linked pure spastic paraplegia
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Orphanet_320332 |
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MT-ATP6-related mitochondrial spastic paraplegia
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Orphanet_320360 |
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Autosomal dominant spastic paraplegia type 36
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Orphanet_320365 |
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Autosomal dominant spastic paraplegia type 41
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Orphanet_320355 |
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Autosomal recessive spastic paraplegia type 43
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Orphanet_320370 |
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Autosomal recessive spastic paraplegia type 44
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Orphanet_320401 |
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Autosomal recessive spastic paraplegia type 45
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Orphanet_320396 |
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Autosomal recessive spastic paraplegia type 46
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Orphanet_320391 |
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Autosomal recessive spastic paraplegia type 49
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Orphanet_320385 |
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Autosomal recessive spastic paraplegia type 54
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Orphanet_320380 |
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