| Metadata | |
|---|---|
| ID | DOID:0111584 |
| Name | dilated cardiomyopathy-hypergonadotropic hypogonadism 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. https://www.ncbi.nlm.nih.gov/pubmed/12927431, https://www.ncbi.nlm.nih.gov/pubmed/19283854 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719451006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| 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] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |