|
| General Information | |||
|---|---|---|---|
| Term | autosomal recessive distal hereditary motor neuronopathy 2 | ID (Ontology) | DOID:0111065 (Human Disease) |
| Definition | A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. | ||
| Also Known As | "autosomal recessive distal spinal muscular atrophy 2" ; "dHMNJ" ; "distal hereditary motor neuropathy Jerash type" (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 recessive disease__ spinal muscular atrophy______| autosomal recessive distal hereditary motor neuronopathy |__autosomal recessive distal hereditary motor neuronopathy 2 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | autosomal recessive distal hereditary motor neuronopathy | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:10133 MESH:C535715 MIM:605726 ORDO:139552 SNOMEDCT_US_2023_03_01:763533003 UMLS_CUI:C1854023 |
|||