Human Phenotype Ontology 
..Starting node
..expandBallooning hepatocyte degeneration (HP:0033193)help
Term ID: 33193
Name: Ballooning hepatocyte degeneration
Synonym: Ballooning degeneration of hepatocytes
Definition: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.
Comments:
Reference: HP:0033193
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033193HP:0033193Ballooning hepatocyte degeneration0FOCAD CL E G H5491423377OMIM:6199913
HP:0033193HP:0033193Ballooning hepatocyte degeneration0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset82


Genes (2) :FOCAD SLC25A13

Diseases (2) :OMIM:619991 OMIM:603471
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.