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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.


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 synonym: Cirrhosis, noncryptogenic, susceptibility to OMIM
ClinVar
PMID:9011570, PMID:12724528 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Krt8 keratin 8 ISO ClinVar Annotator: match by synonym: Cirrhosis, noncryptogenic, susceptibility to OMIM
ClinVar
PMID:9011570, PMID:11372009, PMID:12724528 NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          Familial Cirrhosis 2
            Familial Cirrhosis with Pulmonary Hypertension 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          liver disease 2392
            liver cirrhosis 1080
              Familial Cirrhosis 2
                Familial Cirrhosis with Pulmonary Hypertension 0
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.