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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
 alt_id: OMIM:118900;   OMIM:215600



show annotations for term's descendants           Sort by:
Familial Cirrhosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt18 keratin 18 ISO ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9011570 PMID:12724528 PMID:25741868 NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
JBrowse link
G Krt8 keratin 8 ISO ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to ClinVar PMID:9011570 PMID:12724528 PMID:25741868 NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          Familial Cirrhosis 2
            Familial Cirrhosis with Pulmonary Hypertension 0
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      gastrointestinal system disease 7035
        hepatobiliary disease 3042
          liver disease 2932
            liver cirrhosis 1152
              Familial Cirrhosis 2
                Familial Cirrhosis with Pulmonary Hypertension 0
paths to the root