|
| General Information | |||
|---|---|---|---|
| Term | 3-methylglutaconic aciduria type 7b | ID (Ontology) | DOID:0081134 (Human Disease) |
| 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. | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal recessive disease__ 3-methylglutaconic aciduria__| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |__3-methylglutaconic aciduria type 7b |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
| MIM:616271 | |||