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Items: 2

1.

Cardiomyopathy, dilated, 2E

CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation (Vasilescu et al., 2018; Jones et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

MedGen UID:
1794180
Concept ID:
C5561970
Disease or Syndrome
2.

Hypertrophic cardiomyopathy 17

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2. [from NCI]

MedGen UID:
462614
Concept ID:
C3151264
Disease or Syndrome

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