3-Methylglutaconic Aciduria Type 7A
Disease ID: disease_node_19197
Connections displayed (default: 10).
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| Dbxref | MIM:619835 |
|---|---|
| Subclassof | DOID_0050736, DOID_0110003 |
| Data Source | DOID |
| Doid Label | 3-methylglutaconic aciduria type 7a |
| Doid Description | 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 domit-negative mutation in the CLPB gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19197 |
| Doid Id | DOID_0081133 |
| Label | 3-Methylglutaconic Aciduria Type 7A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia(ID:disease_node_19195) (Disease)