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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 1CC
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Accession:DOID:0110424 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)
Synonyms:exact_synonym: CMD1CC
 broad_synonym: NEXN-RELATED CONDITION
 primary_id: MESH:C567733
 alt_id: OMIM:613122


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dilated cardiomyopathy 1CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805765 BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 1:77,918,003...77,919,202 JBrowse link
G NEXN nexilin F-actin binding protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC
OMIM:613122
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:19881492 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        heart disease 4434
          Cardiomegaly 932
            dilated cardiomyopathy 611
              dilated cardiomyopathy 1CC 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                dilated cardiomyopathy 1CC 2
paths to the root