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DO Term : dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [DOID:0111584] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
  • synonyms:
  • congestive cardiomyopathy with hypergonadotropic hypogonadism,
  • OMIM:212112,
  • GARD:3373,
  • UMLS_CUI:C0796031,
  • dilated cardiomyopathy with premature ovarian failure,
  • ORDO:2229,
  • cardiomyopathy eith primary testicular failure,
  • UMLS_CUI:C0796083,
  • cardiogenital syndrome,
  • Najjar syndrome,
  • MESH:C535703,
  • 212112,
  • genital anomaly with cardiomyopathy,
  • MESH:C535580,
  • SNOMEDCT_US_2023_03_01:719451006,
  • NCI:C174217,
  • dilated cardiomyopathy with hypergonadotropic hypogonadism,
  • Malouf syndrome
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