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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.


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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 chr 1:24,010,758...24,100,484
Ensembl chr 1:24,011,093...24,100,341
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:19188198, PMID:26803244 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:19188198, PMID:26803244 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by synonym: Focal lipid cardiomyopathy ClinVar PMID:10960495 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:25741868, PMID:25772934 NCBI chr  X:20,615,326...20,617,619
Ensembl chr  X:20,615,326...20,617,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    Developmental Diseases 9393
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8205
        genetic disease 7742
          monogenic disease 5663
            infantile histiocytoid cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      cardiovascular system disease 3586
        heart disease 2565
          cardiomyopathy 1112
            intrinsic cardiomyopathy 745
              infantile histiocytoid cardiomyopathy 5
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.