JSON

3-methylglutaconic aciduria, type VIIB

^ http://purl.obolibrary.org/obo/MONDO_0014561

Term info

database cross reference
  • SCTID:764860006 (MONDO:equivalentTo)
  • DOID:0110003 (MONDO:equivalentTo)
  • EFO:0009014 (MONDO:equivalentTo)
  • Orphanet:445038 (MONDO:equivalentTo)
  • UMLS:C4225393 (MONDO:ncbi_mim2gene_medline)
  • OMIM:616271 (Orphanet:445038/e)
Subsets

ordo_disease

abbreviation
MEGCANN [ DOID:0110003 OMIM:616271 MONDO:Lexical ]

abbreviation
MGA7 [ Orphanet:445038 DOID:0110003 ]

abbreviation
MGCA7 [ DOID:0110003 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

comment

Present because it is in the OMIM series.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_445038, https://omim.org/entry/616271, http://identifiers.org/snomedct/764860006, http://purl.obolibrary.org/obo/DOID_0110003, http://linkedlifedata.com/resource/umls/id/C4225393

has exact synonym

MGCA7, CLPB 3-methylglutaconic aciduria, MGA7, 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 3-methylglutaconic aciduria type VII, 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, MEGCANN, 3-methylglutaconic aciduria type 7

has related synonym

3-Methylglutaconic aciduria, type 7, 3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia

id

MONDO:0014561