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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: MIM:619902


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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 OMIM
ClinVar		 PMID:25741868 PMID:35397207 NCBI chr 5:67,201,680...67,238,348
Ensembl chr 5:67,199,448...67,238,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    Pathological Conditions, Signs and Symptoms 12066
      Pathologic Processes 7606
        Fibrosis 1462
          liver cirrhosis 1109
            HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
Path 2
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      Urogenital Diseases 4836
        urinary system disease 2384
          kidney disease 2144
            renal fibrosis 176
              HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
paths to the root