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Familial hypertrophic cardiomyopathy 19(CMH19)

MedGen UID:
462616
Concept ID:
C3151266
Disease or Syndrome
Synonyms: CMH19
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: CALR3
Cytogenetic location: 19p13.11
OMIM: 613875

Clinical features

Asymmetric septal hypertrophy
MedGen UID:
504902
Concept ID:
CN001519
Finding
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

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