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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 Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver RGD PMID:20400910 RGD:2325215 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ifnl2 interferon lambda 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28394349 NCBI chr 7:28,508,784...28,510,532
Ensembl chr 7:28,508,836...28,510,455
JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 IMP
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 1:20,057,779...20,618,082
Ensembl chr 1:20,057,779...20,618,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Developmental Diseases 9433
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8231
        genetic disease 7762
          Congenital Hepatic Fibrosis 3
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      gastrointestinal system disease 4329
        hepatobiliary disease 0
          liver disease 2405
            liver cirrhosis 1101
              Congenital Hepatic Fibrosis 3
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.