Search Ontology:
Human Disease
3-methylglutaconic aciduria type 7b
- Term ID
- DOID:0081134
- Synonyms
-
- Definition
- A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (2)
- References
- Ontology
- Human Disease ( DOID:0081134 )
- is a type of
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