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dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Uniprot Description A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.
Mondo Term and Equivalent IDs
MONDO:0008915:  dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
DOID:0111584: 
GARD:0003373: 
Orphanet:2229: 
SCTID:719451006: 
UMLS:C0796031: 
UMLS:C0796083: