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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 ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:19188198, PMID:26803244 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G CYTB cytochrome b ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:10960495 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
JBrowse link
G FAM135A family with sequence similarity 135 member A ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar NCBI chr 1:50,579,709...50,716,185
Ensembl chr 1:50,579,706...50,716,358
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy ClinVar PMID:19188198, PMID:26803244 NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
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:41,770,929...41,773,879
Ensembl chr  X:41,770,938...41,774,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    Developmental Diseases 8921
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7781
        genetic disease 7335
          monogenic disease 5405
            infantile histiocytoid cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      cardiovascular system disease 3335
        heart disease 2375
          cardiomyopathy 1005
            intrinsic cardiomyopathy 682
              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.