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3-methylglutaconic aciduria

Go to external page http://purl.obolibrary.org/obo/MONDO_0017359

A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. [ NCIT:C98678 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2200496 (https://orcid.org/0000-0003-0011-764X)
  • MESH:C579867 (MONDO:equivalentTo)
  • OMIMPS:250950 (https://orcid.org/0000-0002-6601-2165)
  • NCIT:C98678 (MONDO:equivalentTo)
  • ICD10CM:E71.111 (MONDO:equivalentTo)
  • MEDGEN:777186 (MONDO:equivalentTo)
  • DOID:0060336 (MONDO:equivalentTo)
  • Orphanet:289902 (MONDO:equivalentTo)
  • GARD:12966 (MONDO:GARD)
  • NANDO:1200989 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:237950009 (MONDO:equivalentTo)
  • UMLS:C3696376 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/DOID_0060336

http://identifiers.org/medgen/777186

https://omim.org/phenotypicSeries/PS250950

http://linkedlifedata.com/resource/umls/id/C3696376

http://www.orpha.net/ORDO/Orphanet_289902

http://purl.obolibrary.org/obo/NCIT_C98678

http://identifiers.org/mesh/C579867

http://identifiers.org/snomedct/237950009

http://purl.bioontology.org/ontology/ICD10CM/E71.111

id

MONDO:0017359

Term relations