ZFIN Human Disease: 3-methylglutaconic aciduria type 7a

OBO ID: DOID:0081133

Term Name:	3-methylglutaconic aciduria type 7a		Search Ontology:
Synonyms:
Definition:	A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/34140661/
References:	OMIM:619835
Ontology:	Human Disease ( DOID:0081133 )

Relationships

is a type of:	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia autosomal dominant disease 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia autosomal dominant disease Show first 5 Terms

OTHER 3-methylglutaconic aciduria type 7a PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLPB	clpb	3-methylglutaconic aciduria, type VIIA, autosomal dominant	619835

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None