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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:Familial Cirrhosis
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Accession:DOID:9007543 term browser browse the term
Synonyms:narrow_synonym: CIRRHOSIS, CRYPTOGENIC;   CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION;   CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO;   COPPER TOXICOSIS, IDIOPATHIC;   COPPER-OVERLOAD CIRRHOSIS;   ENDEMIC TYROLEAN INFANTILE CIRRHOSIS;   ETIC;   ICC;   ICT;   INDIAN CHILDHOOD CIRRHOSIS;   SEN SYNDROME
 primary_id: MESH:C566123;   RDO:0014576
 alt_id: OMIM:215600
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Cirrhosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT18 keratin 18 ISO OMIM NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G KRT8 keratin 8 ISO OMIM NCBI chr12:35,855,367...35,863,248
Ensembl chr12:36,634,582...36,642,564
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12810
    Developmental Diseases 9078
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7920
        genetic disease 7483
          Familial Cirrhosis 2
            Familial Cirrhosis with Pulmonary Hypertension 0
Path 2
Term Annotations click to browse term
  disease 12810
    disease of anatomical entity 12340
      gastrointestinal system disease 3983
        hepatobiliary disease 2217
          liver disease 2134
            liver cirrhosis 1023
              Familial Cirrhosis 2
                Familial Cirrhosis with Pulmonary Hypertension 0
paths to the root