Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:citation |
MIM:255310
MeSH:D020522 MedGen:C1859872 OMIM:255310 UMLS:C1859872 |
| gptkbp:hasClinicalFeature |
hypotonia
muscle weakness delayed motor development fiber-type disproportion on muscle biopsy |
| gptkbp:hasDisorderGroup |
muscular dystrophy
|
| gptkbp:hasOrphanetID |
404989
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:404989
|
| gptkbp:inheritance |
autosomal dominant
familial |
| gptkbp:name |
Congenital myopathy with fiber-type disproportion, autosomal dominant form
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
very rare
|
| gptkbp:synonym |
CMFTD, autosomal dominant form
|
| gptkbp:bfsParent |
gptkb:immunodeficiency_14
|
| gptkbp:bfsLayer |
6
|