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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;   ORDO:2229
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:212112
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE
ClinVar Annotator: match by term: Malouf syndrome
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OMIM
ClinVar
PMID:2007407, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10739751, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:12927431, PMID:16181372, PMID:16364671, PMID:16415042, PMID:17150192, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19418082, PMID:19427440, PMID:19859838, PMID:20130076, PMID:20625965, PMID:20709679, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23977161, PMID:24033266, PMID:24503780, PMID:24623722, PMID:24846508, PMID:25741868, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:28663758, PMID:28679633, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:31383942 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Urogenital Abnormalities 286
            disorder of sexual development 182
              gonadal dysgenesis 50
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.