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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:Congenital Hepatic Fibrosis
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Accession:DOID:9006697 term browser browse the term
Synonyms:exact_synonym: Congenital Fibrose Liver
 primary_id: MESH:C562378;   RDO:0012129
 alt_id: RDO:0015876
 xref: NCI:C97071
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Hepatic Fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968921 angiotensin-converting enzyme ISO associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver RGD PMID:20400910 RGD:2325215 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human) RGD PMID:30507656, PMID:30600684 RGD:14700919, RGD:14700992 NCBI chrNW_004936476:8,730,766...9,160,102 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    Developmental Diseases 8545
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7499
        genetic disease 7062
          Congenital Hepatic Fibrosis 2
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      gastrointestinal system disease 3786
        hepatobiliary disease 0
          liver disease 2038
            liver cirrhosis 972
              Congenital Hepatic Fibrosis 2
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.