|
| General Information | |||
|---|---|---|---|
| Term | GNE myopathy | ID (Ontology) | DOID:0080718 (Human Disease) |
| Definition | A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. | ||
| Also Known As | "Distal myopathy, Nonaka type" ; "Hereditary Inclusion Body Myopathy" ; "inclusion body myopathy 2" (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__ muscle tissue disease | |__myopathy_____________________| GNE myopathy |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease myopathy |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:9493 MESH:C536816 MESH:C538329 MIM:605820 NCI:C176900 ORDO:602 SNOMEDCT_US_2023_03_01:702382000 UMLS_CUI:C1833373 UMLS_CUI:C1853926 |
|||