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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 1II
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Accession:DOID:0110450 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: CMD1II
 primary_id: OMIM:615184


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dilated cardiomyopathy 1II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Cryab crystallin, alpha B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1II		 OMIM
CTD
ClinVar		 PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:14681890 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1II ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          Cardiomegaly 869
            dilated cardiomyopathy 463
              dilated cardiomyopathy 1II 9
Path 2
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
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                dilated cardiomyopathy 1II 9
paths to the root