Myopathy, congenital, with fiber-type disproportion, X-linked

Preferred Label : Myopathy, congenital, with fiber-type disproportion, X-linked;

Symbol : CFTDX;

CISMeF acronym : CFTDX;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description of congenital fiber-type disproportion, see CFTD (255310).;

Inheritance : X-linked dominant;

Prefixed ID : %300580;

Details

Origin ID

300580;

UMLS CUI

C2749128;

Currated CISMeF NLP mapping
- X-linked congenital myopathy with fiber-type disproportion [DO Concept]
- myopathy, congenital, with Fiber-Type disproportion, X-Linked [MeSH concept]
- myopathy, congenital, with Fiber-Type disproportion, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked congenital myopathy with fiber-type disproportion [DO Concept]
HPO term(s)
- Decreased body weight [HPO term]
- Dilated cardiomyopathy [HPO term]
- Facial palsy [HPO term]
- Frontalis muscle weakness [HPO term]
- Generalized neonatal hypotonia [HPO term]
- Heterogeneous [HPO term]
- Micrognathia [HPO term]
- Myopathy [HPO term]
- Polyhydramnios [HPO term]
- Poor suck [HPO term]
- Ptosis [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Short stature [HPO term]
- Type 1 fibers relatively smaller than type 2 fibers [HPO term]
- Weak cry [HPO term]
- X-linked dominant inheritance [HPO term]
- respiratory distress due to muscle weakness, often fatal [HPO term]
ORDO concept(s)
- Congenital fiber-type disproportion myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myopathy, congenital, with Fiber-Type disproportion, X-Linked [MeSH Supplementary Concept]
- myopathy, congenital, with Fiber-Type disproportion, X-Linked [MeSH concept]
Validated automatic mappings to NTBT
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- congenital fiber-type disproportion [DO Concept]

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