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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
OMIM
ClinVar
PMID:2408213 PMID:9536098 PMID:14567970 PMID:17097056 PMID:17576681 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA ClinVar PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1AA 3
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                dilated cardiomyopathy 1AA 3
paths to the root