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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


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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: Foamy myocardial transformation of infancy ClinVar NCBI chr 9:26,420,116...26,500,803
Ensembl chr 9:26,420,528...26,500,717 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:10960495 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Foamy myocardial transformation of infancy ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            infantile histiocytoid cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        heart disease 3307
          cardiomyopathy 1308
            intrinsic cardiomyopathy 914
              infantile histiocytoid cardiomyopathy 5
paths to the root