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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 ISO associated with Polycystic Kidney, Autosomal Recessive;mRNA:increased expression:liver RGD PMID:20400910 RGD:2325215 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G IFNL3 interferon lambda 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28394349 NCBI chr19:39,243,553...39,245,077
Ensembl chr19:39,243,553...39,245,129
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO
IAGP
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 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          Congenital Hepatic Fibrosis 3
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      gastrointestinal system disease 4605
        hepatobiliary disease 0
          liver disease 2464
            liver cirrhosis 1102
              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.