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inborn disorder of branched-chain amino acid metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0019242

An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. [ MONDO:patterns/inborn_metabolic ]

Synonyms: rare inborn error of branched-chain amino acid metabolic process inborn disorder of branched-chain amino acid metabolism inborn error of branched-chain amino acid metabolic process disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0342712 (Orphanet:79197/e)
  • Orphanet:79197 (MONDO:equivalentTo)
  • SCTID:116020001 (MONDO:equivalentTo)
  • GARD:18971 (Orphanet:79197)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

comment

Editor note: consider parent for non-inborn form

exactMatch

http://www.orpha.net/ORDO/Orphanet_79197

http://identifiers.org/snomedct/116020001

http://linkedlifedata.com/resource/umls/id/C0342712

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019189

has related synonym

disorder of branched chain amino acid metabolism

branched chain amino acid metabolism disorder

id

MONDO:0019242