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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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GM2 synthase deficiency
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Orphanet_101006 |
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Tyrosine hydroxylase deficiency
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Orphanet_101150 |
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Rare urogenital disease
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Orphanet_101433 |
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Rare gastroesophageal disease
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Orphanet_101936 |
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Rare pancreatic disease
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Orphanet_101937 |
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Rare pulmonary disease
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Orphanet_101944 |
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Rare adrenal disease
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Orphanet_101954 |
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Rare thyroid disease
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Orphanet_101955 |
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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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X-linked Charcot-Marie-Tooth disease type 4
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Orphanet_101078 |
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Axonal Charcot-Marie-Tooth disease with pyramidal involvement
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Orphanet_101102 |
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Autosomal recessive dopa-responsive dystonia
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Orphanet_101150 |
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Tyrosine hydroxylase-deficient dopa-responsive dystonia
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Orphanet_101150 |
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