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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: Familial hypertrophic cardiomyopathy 24
ClinVar Annotator: match by term: Left ventricular noncompaction 3
OMIM
ClinVar
PMID:14660611, PMID:14662268, PMID:15668942, PMID:16427346, PMID:17097056, PMID:19377068, PMID:20852297, PMID:22929165, PMID:23558691, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24647531, PMID:25163546, PMID:25326637, PMID:25351510, PMID:25617006, PMID:25741868, PMID:26419279, PMID:26467025, PMID:27135274, PMID:28349680, PMID:28492532, PMID:28798025 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          Cardiomegaly 666
            dilated cardiomyopathy 299
              dilated cardiomyopathy 1C 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                dilated cardiomyopathy 1C 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.