3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia
Disease ID: disease_node_19195
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| Dbxref | MIM:616271, ORDO:445038 |
|---|---|
| Subclassof | DOID_0060336, DOID_0050737 |
| Data Source | DOID |
| Synonyms | 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, MEGCANN, MGA7, MGCA7 |
| Doid Label | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
| Doid Description | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19195 |
| Doid Id | DOID_0110003 |
| Label | 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia |
- Incoming r'ship
SUBCLASS_OFto/from 3-Methylglutaconic Aciduria Type 7B(ID:disease_node_19196) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from 3-Methylglutaconic Aciduria Type 7A(ID:disease_node_19197) (Disease)