Myopathy, distal, tateyama type

Preferred Label : Myopathy, distal, tateyama type;

Symbol : MPDT;

CISMeF acronym : MPDT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caveolin 3 gene (CAV3, 601253.0007);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #614321;

Détails

Origin ID

614321;

UMLS CUI

C3280443;

CISMeF manual mappings
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]
- Distal myopathy, Tateyama type [ORDO Disease]
DO Cross reference
- distal muscular dystrophy Tateyama type [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Neck muscle weakness [HPO term]
- Pes cavus [HPO term]
ORDO concept(s)
- Distal myopathy, Tateyama type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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