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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 1BB
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Accession:DOID:0110458 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)
Synonyms:exact_synonym: CMD1BB;   familial isolated dilated cardiomyopathy
 broad_synonym: DSG2-RELATED CONDITION
 primary_id: MESH:C567877
 alt_id: OMIM:612877


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dilated cardiomyopathy 1BB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy		 OMIM
CTD
ClinVar		 PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:19377068 PMID:23396983 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lmod2 leiomodin 2 ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:35082396 NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy ClinVar PMID:11684629 PMID:12923187 PMID:14654368 PMID:15623536 PMID:15769782 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            dilated cardiomyopathy 1BB 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                dilated cardiomyopathy 1BB 4
paths to the root