| Metadata | |
|---|---|
| ID | DOID:0081134 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081134 Copy |
| Name | 3-methylglutaconic aciduria type 7b |
| Definition | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.4. https://pubmed.ncbi.nlm.nih.gov/25597511/, https://pubmed.ncbi.nlm.nih.gov/25597510/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [EXACT] MEGCANN [EXACT] MGCA7B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |