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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 the LMNA gene 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


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dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy		 OMIM
CTD
ClinVar		 PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Urogenital Abnormalities 445
            disorder of sexual development 233
              gonadal dysgenesis 56
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
paths to the root