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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
 broad_synonym: LDB3-RELATED CONDITION
 related_synonym: CMH24;   LVNC3;   familial hypertrophic cardiomyopathy 24;   left ventricular noncompaction 3
 primary_id: MESH:C563307
 alt_id: OMIM:601493
 xref: NCI:C170436


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601493
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: LDB3-related condition | ClinVar Annotator: match by term: Left ventricular noncompaction 3		 OMIM
CTD
MouseDO
ClinVar		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          Cardiomegaly 863
            dilated cardiomyopathy 455
              dilated cardiomyopathy 1C 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                dilated cardiomyopathy 1C 1
paths to the root