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Ontology Browser

Term:
Progressive Familial Intrahepatic Cholestasis 13 (DOID:9009191)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
progressive familial intrahepatic cholestasis 1  
Progressive Familial Intrahepatic Cholestasis 10  
Progressive Familial Intrahepatic Cholestasis 11  
Progressive Familial Intrahepatic Cholestasis 12  
Progressive Familial Intrahepatic Cholestasis 13  
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.
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
Progressive Familial Intrahepatic Cholestasis 6  
Progressive Familial Intrahepatic Cholestasis 7  
Progressive Familial Intrahepatic Cholestasis 8  
Progressive Familial Intrahepatic Cholestasis 9  

Synonyms
Exact Synonyms: Maddirevula-Shagrani-Ji syndrome ;   PFIC13
Xrefs: MIM:620962
Definition Sources: MIM:620962

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