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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:infantile histiocytoid cardiomyopathy
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Accession:DOID:0080198 term browser browse the term
Definition:An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)
Synonyms:exact_synonym: foamy myocardial transformation of infancy;   focal lipid cardiomyopathy;   infantile xanthomatous cardiomyopathy;   oncocytic cardiomyopathy
 primary_id: MESH:C535584
 alt_id: OMIM:500000
 xref: GARD:9511
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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infantile histiocytoid cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam135a family with sequence similarity 135 member A ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar NCBI chrNW_004955488:5,529,579...5,616,188
Ensembl chrNW_004955488:5,529,505...5,617,396
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G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:25741868, PMID:25772934 NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    Developmental Diseases 8414
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7380
        genetic disease 6957
          monogenic disease 5153
            infantile histiocytoid cardiomyopathy 2
Path 2
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      cardiovascular system disease 3150
        heart disease 2236
          cardiomyopathy 923
            intrinsic cardiomyopathy 645
              infantile histiocytoid cardiomyopathy 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.