FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ID (Ontology) DOID:0111584 (Human Disease)
Definition A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Also Known As "cardiogenital syndrome" ; "cardiomyopathy eith primary testicular failure" ; "congestive cardiomyopathy with hypergonadotropic hypogonadism" (for all, see Synonyms field below)
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 Genes
 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome       2
 for disease ribbon | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome       2
 model of | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "cardiogenital syndrome" EXACT
    "cardiomyopathy eith primary testicular failure" EXACT
    "congestive cardiomyopathy with hypergonadotropic hypogonadism" EXACT
    "dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT
    "dilated cardiomyopathy with premature ovarian failure" EXACT
    "genital anomaly with cardiomyopathy" EXACT
    "Malouf syndrome" EXACT
    "Najjar syndrome" EXACT
Secondary IDs
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GARD:3373
MESH:C535580
MESH:C535703
MIM:212112
NCI:C174217
ORDO:2229
SNOMEDCT_US_2023_03_01:719451006
UMLS_CUI:C0796031
UMLS_CUI:C0796083