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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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Accession:DOID:0111584 term browser browse the term
Definition:A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22. (DO)
Synonyms:exact_synonym: CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE;   CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE;   Malouf syndrome;   Najjar syndrome;   cardiogenital syndrome;   cardiomyopathy eith primary testicular failure;   congestive cardiomyopathy with hypergonadotropic hypogonadism;   congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome;   congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism;   dilated cardiomyopathy with hypergonadotropic hypogonadism;   genital anomaly with cardiomyopathy
 primary_id: OMIM:212112
 alt_id: MESH:C535580;   MESH:C535703
 xref: GARD:3373;   NCI:C174217;   ORDO:2229
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Urogenital Abnormalities 342
            disorder of sexual development 181
              gonadal dysgenesis 49
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
paths to the root