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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;   Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism;   Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism;   Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome;   Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism;   Genital anomaly with cardiomyopathy;   Malouf syndrome;   Najjar syndrome;   cardiogenital syndrome;   cardiomyopathy eith primary testicular failure
 primary_id: MESH:C535580;   MESH:C535703;   OMIM:212112
 alt_id: DOID:9006021
 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 16091
    syndrome 7036
      dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Urogenital Abnormalities 259
            disorder of sexual development 154
              gonadal dysgenesis 49
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
paths to the root