JSON

3-methylglutaconic aciduria type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0009610

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. [ Orphanet:67046 ]

Synonyms: auh 3-methylglutaconic aciduria 3-methylglutaconic aciduria type I 3-methylglutaconic aciduria caused by mutation in AUH 3-methylglutaconic aciduria caused by mutation in auh 3-methylglutaconyl-CoA hydratase deficiency MGA type I 3-methylglutaconic aciduria type 1 3MG-CoA hydratase deficiency AUH 3-methylglutaconic aciduria MGA1

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C98683 (MONDO:equivalentTo)
  • OMIM:250950 (Orphanet:67046/e)
  • GARD:10321 (Orphanet:67046)
  • UMLS:C0342728 (Orphanet:67046/e)
  • MESH:C562801 (MONDO:equivalentTo)
  • UMLS:C0342727 (Orphanet:67046/e)
  • Orphanet:67046 (OMIM:250950)
  • SCTID:237951008 (MONDO:equivalentTo)
  • DOID:0110002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C98683

http://linkedlifedata.com/resource/umls/id/C0342727

http://identifiers.org/mesh/C562801

http://identifiers.org/snomedct/237951008

http://purl.obolibrary.org/obo/DOID_0110002

http://www.orpha.net/ORDO/Orphanet_67046

https://omim.org/entry/250950

has related synonym

3-methylglutaconyl-Coa hydratase deficiency

3 methylglutaconic aciduria type 1

3-Mg-Coa-hydratase deficiency

MGCA1

3-methylglutaconyl-CoA hydratase deficiency (auh defect)

Mga, type 1

3-MGCA type I (3-MGCA-1)

3 alpha methylglutaconic aciduria type I

3-Methylglutaconic aciduria, type 1

3-METHYLGLUTACONIC aciduria, type I

3MG CoA hydratase deficiency

3 methylglutaconyl CoA hydratase deficiency

id

MONDO:0009610

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009610

Term relations