ZFIN Human Disease: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

OBO ID: DOID:0111584

Term Name:	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		Search Ontology:
Synonyms:	cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy Malouf syndrome Najjar syndrome
Definition:	A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (2)
References:	GARD:3373 MESH:C535580 MESH:C535703 NCI:C174217 OMIM:212112 ORDO:2229 SNOMEDCT_US_2023_03_01:719451006 UMLS_CUI:C0796031 UMLS_CUI:C0796083
Ontology:	Human Disease ( DOID:0111584 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMNA	lmna	Malouf syndrome	212112

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None