3-methylglutaconic aciduria type 7b - Ontology Browser

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3-methylglutaconic aciduria type 7b (DOID:0081134)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)

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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + is-a

3-methylglutaconic aciduria type 7a

3-methylglutaconic aciduria type 7b

A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)

Synonyms
Exact Synonyms:	3-methylglutaconic aciduria, type VIIB ; 3-methylglutaconic aciduria, type VIIB, autosomal recessive ; MGCA7B
Primary IDs:	OMIM:616271
Definition Sources:	https://pubmed.ncbi.nlm.nih.gov/25597510/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25597511/ "DO" "DO"

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