Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Congenital Hepatic Fibrosis 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        hepatobiliary disease 2577
          liver disease 2480
            liver cirrhosis 1107
              Congenital Hepatic Fibrosis 3
paths to the root