Myopathy, distal, infantile-onset

Preferred Label : Myopathy, distal, infantile-onset;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : %160300;

Details

Origin ID

160300;

UMLS CUI

C4011725;

Automatic exact mappings (from CISMeF team)
- infantile-onset distal myopathy [DO Concept]
Currated CISMeF NLP mapping
- myopathy, distal, with onset in infancy [MeSH concept]
- myopathy, distal, with onset in infancy [MeSH Supplementary Concept]
DO Cross reference
- infantile-onset distal myopathy [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Increased connective tissue [HPO term]
- Infantile onset [HPO term]
- Steppage gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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