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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 2G
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Accession:DOID:0081163 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. (DO)
Synonyms:exact_synonym: CMD2G;   LMOD2-RELATED CONDITION
 primary_id: MIM:619897
 alt_id: DOID:9002218

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dilated cardiomyopathy 2G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD2 leiomodin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G | ClinVar Annotator: match by term: LMOD2-related condition OMIM
ClinVar		 PMID:25741868 PMID:31517052 PMID:34888509 PMID:35082396 NCBI chr21:92,454,067...92,462,904
Ensembl chr21:92,454,438...92,462,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      thoracic disease 3682
        heart disease 3145
          Cardiomegaly 811
            dilated cardiomyopathy 520
              dilated cardiomyopathy 2G 1
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      respiratory system disease 4790
        thoracic disease 3682
          heart disease 3145
            cardiomyopathy 1325
              intrinsic cardiomyopathy 982
                dilated cardiomyopathy 520
                  dilated cardiomyopathy 2G 1
paths to the root