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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
Definition:A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. (NCI)
Synonyms:exact_synonym: Congenital Fibrose Liver
 primary_id: MESH:C562378
 xref: NCI:C97071


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Congenital Hepatic Fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver RGD PMID:20400910 RGD:2325215 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28394349 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096 		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:30600684 PMID:30507656 RGD:14700919, RGD:14700992 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          Congenital Hepatic Fibrosis 3
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      gastrointestinal system disease 7167
        hepatobiliary disease 3106
          liver disease 2996
            liver cirrhosis 1153
              Congenital Hepatic Fibrosis 3
paths to the root