ZFIN Human Disease: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

OBO ID: DOID:0110003

Term Name:	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia		Search Ontology:
Synonyms:	3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII MEGCANN MGA7 MGCA7
Definition:	A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25597510
References:	OMIM:616271 ORDO:445038
Ontology:	Human Disease (DOID:0110003)

Relationships

is a type of:	3-methylglutaconic aciduria autosomal recessive disease 3-methylglutaconic aciduria autosomal recessive disease Show first 5 Terms
has subtype:	3-methylglutaconic aciduria type 7a 3-methylglutaconic aciduria type 7b 3-methylglutaconic aciduria type 7a 3-methylglutaconic aciduria type 7b Show first 5 Terms

OTHER 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLPB	clpb	3-methylglutaconic aciduria, type VIIB, autosomal recessive	616271

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None