|
| General Information | |||
|---|---|---|---|
| Term | spinal muscular atrophy with progressive myoclonic epilepsy | ID (Ontology) | DOID:0111527 (Human Disease) |
| Definition | A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. | ||
| Also Known As | "hereditary myoclonus-progressive distal muscular atrophy syndrome" ; "Jankovic-Rivera syndrome" ; "SMA-PME" (for all, see Synonyms field below) | ||
| 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__ motor neuron disease | |__spinal muscular atrophy______| spinal muscular atrophy with progressive myoclonic epilepsy |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease spinal muscular atrophy |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:3044 GARD:3875 MESH:C537563 MIM:159950 ORDO:2590 SNOMEDCT_US_2023_03_01:703524005 UMLS_CUI:C1834569 |
|||