ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
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/
20,514 entries
Label
Id
CBS-deficient HCU Orphanet_394
Cystathionine beta-synthase deficiency Orphanet_394
Multiple acyl-CoA dehydrogenase deficiency, mild type Orphanet_394532
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Orphanet_394529
Cystathionine beta-synthase-deficient homocystinuria Orphanet_394
MAD deficiency, mild type Orphanet_394532
MADD, severe neonatal type Orphanet_394529
MAD deficiency, severe neonatal type Orphanet_394529
Homocystinuria due to CBS deficiency Orphanet_394
Homocystinuria due to cystathionine beta-synthase deficiency Orphanet_394
MADD, mild type Orphanet_394532
Glutaric aciduria type 2, mild type Orphanet_394532
Glutaric aciduria type 2, severe neonatal type Orphanet_394529