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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 chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
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:30507656 PMID:30600684 RGD:14700919 RGD:14700992 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    Developmental Diseases 8961
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7812
        genetic disease 7358
          Congenital Hepatic Fibrosis 2
Path 2
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      gastrointestinal system disease 4038
        hepatobiliary disease 0
          liver disease 2232
            liver cirrhosis 1044
              Congenital Hepatic Fibrosis 2
paths to the root