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| 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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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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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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GARD:3373 MESH:C535580 MESH:C535703 MIM:212112 NCI:C174217 ORDO:2229 SNOMEDCT_US_2023_03_01:719451006 UMLS_CUI:C0796031 UMLS_CUI:C0796083 |
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