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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Thiamin-responsive maple syrup urine disease | |
| Synonyms |
Thiamin-responsive MSUD Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency Thiamin-responsive BCKD deficiency Thiamin-responsive branched-chain ketoaciduria Thiamin-responsive leucinosis |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_20171 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Thiamin-responsive MSUD Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency Thiamin-responsive BCKD deficiency Thiamin-responsive branched-chain ketoaciduria Thiamin-responsive leucinosis
|
|
| id_Medline |
neant
|
|
| id_MIM |
248600
|
|
| id_OMS |
E71.0
|
|
| id_Orpha |
268184
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
clinical subtype
|
|
| prefixIRI |
hrdo:pat_id_20171
|
|
| prefLabel |
Thiamin-responsive maple syrup urine disease
|
|
| prevalence |
Unknown
|
|
| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/RCD/X40Sq | RCD | LOOM |
| http://purl.bioontology.org/ontology/SNMI/D6-B0140 | SNMI | LOOM |
| http://purl.bioontology.org/ontology/SNOMEDCT/31368008 | SNOMEDCT | LOOM |