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DOID:0111584 - dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Disease Ontology Definition:A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
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
Xenbase Genes
:
lmna
| MIM:212112 - CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)