Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt18 keratin 18 susceptibility 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 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          Familial Cirrhosis 2
            Familial Cirrhosis with Pulmonary Hypertension 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      gastrointestinal system disease 7093
        hepatobiliary disease 3069
          liver disease 2958
            liver cirrhosis 1153
              Familial Cirrhosis 2
                Familial Cirrhosis with Pulmonary Hypertension 0
paths to the root