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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 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_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11835
    Developmental Diseases 8451
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7405
        genetic disease 6976
          Congenital Hepatic Fibrosis 1
Path 2
Term Annotations click to browse term
  disease 11835
    disease of anatomical entity 11390
      gastrointestinal system disease 3761
        hepatobiliary disease 0
          liver disease 2028
            liver cirrhosis 969
              Congenital Hepatic Fibrosis 1
paths to the root