Term info
- SCTID:764860006 (MONDO:equivalentTo)
- DOID:0110003 (MONDO:equivalentTo)
- UMLS:C4225393 (MONDO:ncbi_mim2gene_medline)
- EFO:0009014 (MONDO:equivalentTo)
- OMIM:616271 (Orphanet:445038/e)
- Orphanet:445038 (MONDO:equivalentTo)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4521
Present because it is in the OMIM series.
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
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
3-Methylglutaconic aciduria, type 7, 3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia
MONDO:0014561