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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 13
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Accession:DOID:9009191 term browser browse the term
Definition:An autosomal recessive ciliopathy characterized by onset of progressive liver dysfunction due to intrahepatic and biliary cholestasis. Caused by homozygous mutation in the PSKH1 gene in chromosome 16q22.
Synonyms:exact_synonym: Maddirevula-Shagrani-Ji syndrome;   PFIC13
 xref: MIM:620962

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Progressive Familial Intrahepatic Cholestasis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSKH1 protein serine kinase H1 ISO ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 OMIM
ClinVar		 PMID:39132680 NCBI chr 5:59,510,587...59,543,560
Ensembl chr 5:59,512,617...59,543,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          progressive familial intrahepatic cholestasis 14
            Progressive Familial Intrahepatic Cholestasis 13 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      gastrointestinal system disease 6447
        hepatobiliary disease 2806
          biliary tract disease 499
            bile duct disease 455
              cholestasis 319
                intrahepatic cholestasis 140
                  progressive familial intrahepatic cholestasis 14
                    Progressive Familial Intrahepatic Cholestasis 13 1
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