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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 1C
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Accession:DOID:0110423 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. (DO)
Synonyms:exact_synonym: CMD1C;   CMDC1;   dilated cardiomyopathy 1C with or without left ventricular noncompaction
 narrow_synonym: CMH24;   LVNC3;   familial hypertrophic cardiomyopathy 24;   left ventricular noncompaction 3
 primary_id: MESH:C563307
 alt_id: OMIM:601493
 xref: NCI:C170436
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1C
ClinVar Annotator: match by term: Left ventricular noncompaction 3
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24
OMIM
ClinVar
PMID:9536098 PMID:14660611 PMID:14662268 PMID:15668942 PMID:16427346 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1C 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                dilated cardiomyopathy 1C 1
paths to the root