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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:Progressive Familial Intrahepatic Cholestasis 11
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Accession:DOID:9008279 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis caused by homozygous mutation in the SEMA7A gene on chromosome 15q24.
Synonyms:exact_synonym: PFIC11
 primary_id: OMIM:619874


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Progressive Familial Intrahepatic Cholestasis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema7a sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 OMIM
ClinVar		 PMID:34585848 NCBI chr 9:57,846,879...57,870,148
Ensembl chr 9:57,847,395...57,870,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12830
        genetic disease 12479
          progressive familial intrahepatic cholestasis 12
            Progressive Familial Intrahepatic Cholestasis 11 1
Path 2
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      gastrointestinal system disease 6787
        hepatobiliary disease 3054
          biliary tract disease 547
            bile duct disease 502
              cholestasis 347
                intrahepatic cholestasis 139
                  progressive familial intrahepatic cholestasis 12
                    Progressive Familial Intrahepatic Cholestasis 11 1
paths to the root