Miyoshi muscular dystrophy 3

Preferred Label : Miyoshi muscular dystrophy 3;

Symbol : MMD3;

CISMeF acronym : MMD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Miyoshi myopathy 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the anoctamin 5 gene (ANO5, 608662.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613319;

Details

Origin ID

613319;

UMLS CUI

C2750076;

CISMeF manual mappings
- Distal anoctaminopathy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Distal anoctaminopathy [ORDO Disease]
- Miyoshi muscular dystrophy 3 [DO Concept]
- miyoshi muscular dystrophy 3 [MeSH concept]
- miyoshi muscular dystrophy 3 [MeSH Supplementary Concept]
DO Cross reference
- Miyoshi muscular dystrophy 3 [DO Concept]
Genes related to phenotype
- Anoctamin 5 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle weakness and atrophy [HPO term]
- Muscular dystrophy [HPO term]
- Quadriceps muscle atrophy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Distal anoctaminopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal anoctaminopathy [ORDO Disease]
- Distal anoctaminopathy (disorder) [SNOMED CT concept]
- Miyoshi muscular dystrophy 3 [DO Concept]
- miyoshi muscular dystrophy 3 [MeSH Supplementary Concept]
- miyoshi muscular dystrophy 3 [MeSH concept]

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