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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 1AA
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Accession:DOID:0110428 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)
Synonyms:exact_synonym: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION;   CMD1AA
 narrow_synonym: CMH23;   familial hypertrophic cardiomyopathy 23;   familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction
 primary_id: MESH:C567407
 alt_id: OMIM:612158;   RDO:0015485;   RDO:9000521
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1AA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by OMIM:612158
ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
OMIM
ClinVar
PMID:2408213, PMID:14567970, PMID:17097056, PMID:20022194, PMID:20474083, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25173926, PMID:25179549, PMID:25224718, PMID:25611685, PMID:25626705, PMID:25741868, PMID:26084686, PMID:26899768, PMID:27114410, PMID:27287556, PMID:27532257, PMID:27896284, PMID:28074886, PMID:28301460, PMID:28492532, PMID:28790153, PMID:28878402, PMID:28986455, PMID:29247119, PMID:29447731, PMID:30311386, PMID:30615648, PMID:30775854, PMID:31333075, PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link

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 1AA 3
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 dominant disease 3029
                dilated cardiomyopathy 1AA 3
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.