|
| General Information | |||
|---|---|---|---|
| Term | pontocerebellar hypoplasia type 2F | ID (Ontology) | DOID:0112329 (Human Disease) |
| Definition | A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. | ||
| Also Known As | "PCH2F" | ||
| 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 genetic disease |__autosomal recessive disease________ pontocerebellar hypoplasia | |__pontocerebellar hypoplasia type 2__| pontocerebellar hypoplasia type 2F |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease pontocerebellar hypoplasia type 2 |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
| MIM:617026 | |||