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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:North American Indian Childhood Cirrhosis
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Accession:DOID:9006899 term browser browse the term
Synonyms:exact_synonym: HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS;   NAIC
 primary_id: MESH:C565737
 alt_id: OMIM:604901


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North American Indian Childhood Cirrhosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UTP4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis ClinVar PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 More... NCBI chr 5:80,474,219...80,508,953
Ensembl chr 5:80,406,084...80,508,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        autoimmune disease of gastrointestinal tract 258
          primary biliary cholangitis 101
            North American Indian Childhood Cirrhosis 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        hepatobiliary disease 2899
          biliary tract disease 519
            bile duct disease 476
              cholestasis 331
                intrahepatic cholestasis 137
                  primary biliary cholangitis 101
                    North American Indian Childhood Cirrhosis 1
paths to the root