Congenital myopathy 18

Preferred Label : Congenital myopathy 18;

Symbol : CMYO18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dihydropyridine receptor congenital myopathy; Dhpr congenital myopathy; Myopathy, congenital, due to dihydropyridine receptor defect; DHPRM;

Prefixed ID : #620246;

Détails

Origin ID

620246;

UMLS CUI

C5830283;

Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1s subunit [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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