01
Diseases
Congenital Fiber-Type Disproportion Myopathy
congenital fiber-type disproportion myopathy
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Congenital Fiber-Type Disproportion Myopathy
- Standard Disease Name
- congenital fiber-type disproportion myopathy
- MeSH Tree
- No data
- ICD-10
- G71.2
Identifiers
- DO ID
- No data
- MeSH ID
- D020914
- OMIM ID
- 255310|255310|300580
- UMLS ID
- C0546264
- HPO ID
- No data
Description and Extensions
- Description
- Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of l
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.