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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 7
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Accession:DOID:9002460 term browser browse the term
Definition:An autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Caused by homozygous or compound heterozygous mutation in the USP53 gene on chromosome 4q26.
Synonyms:exact_synonym: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS;   PFIC7;   progressive intrahepatic cholestasis 7 with or without hearing loss
 primary_id: OMIM:619658


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Progressive Familial Intrahepatic Cholestasis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741905 PMID:25741916 More... NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          progressive familial intrahepatic cholestasis 12
            Progressive Familial Intrahepatic Cholestasis 7 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          biliary tract disease 541
            bile duct disease 497
              cholestasis 343
                intrahepatic cholestasis 139
                  progressive familial intrahepatic cholestasis 12
                    Progressive Familial Intrahepatic Cholestasis 7 1
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