3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Term ID

DOID:0110003

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 Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations