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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 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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          Familial Cirrhosis 2
            Familial Cirrhosis with Pulmonary Hypertension 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      gastrointestinal system disease 4655
        hepatobiliary disease 0
          liver disease 2418
            liver cirrhosis 1093
              Familial Cirrhosis 2
                Familial Cirrhosis with Pulmonary Hypertension 0
paths to the root