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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:HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
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Accession:DOID:9006301 term browser browse the term
Definition:This is a primarily fibrotic disease affecting the liver, kidney, and heart. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy.
Synonyms:exact_synonym: HRCDF
 primary_id: OMIM:619902
For additional species annotation, visit the Alliance of Genome Resources.


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HEPATORENOCARDIAC DEGENERATIVE FIBROSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ClinVar
OMIM		 PMID:35397207 NCBI chr 4:161,590,478...161,632,514
Ensembl chr 4:161,590,479...161,632,149 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      cardiovascular system disease 5261
        heart disease 3213
          Cardiac Fibrosis 40
            HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Urogenital Diseases 4892
        urinary system disease 2540
          kidney disease 2306
            renal fibrosis 231
              HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
paths to the root