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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 1X
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Accession:DOID:0110444 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: CMD1X;   dilated cardiomyopathy, with mild or no proximal muscle weakness
 primary_id: MESH:C566907
 alt_id: OMIM:611615;   RDO:0015120
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by OMIM:611615
ClinVar Annotator: match by term: Dilated cardiomyopathy 1X
OMIM
ClinVar
PMID:9690476, PMID:11153909, PMID:14627679, PMID:15103718, PMID:16222679, PMID:17036286, PMID:17559086, PMID:17878207, PMID:18414213, PMID:19015585, PMID:19842201, PMID:20620061, PMID:21102627, PMID:22037554, PMID:23582336, PMID:24033266, PMID:25741868, PMID:26130484, PMID:26467025, PMID:28492532, PMID:28680109 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          Cardiomegaly 668
            dilated cardiomyopathy 298
              dilated cardiomyopathy 1X 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                dilated cardiomyopathy 1X 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.