Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the liver (HP:0001392)help
Parent Node:
expandAbnormal liver morphology (HP:0410042)help
..Starting node
..expandAbnormal liver parenchyma morphology (HP:0030146)help
Term ID: 30146
Name: Abnormal liver parenchyma morphology
Synonym:
Definition: A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.
Comments:
Reference: HP:0030146
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal liver lobulation (HP:0100752) help

 Sister Nodes: 
..expandAbnormal hepatic glycogen storage (HP:0500030) help
..expandAbnormal hepatic iron concentration (HP:0040134) help
..expandAbnormality of the hepatic vasculature (HP:0006707) help
..expandCirrhosis (HP:0001394) help
..expandCystic liver disease (HP:0006706) help
..expandDecreased carnitine level in liver (HP:0045061) help
..expandDegenerative liver disease (HP:0005237) help
..expandDepletion of mitochondrial DNA in liver (HP:0006581) help
..expandEctopic liver (HP:0030722) help
..expandElevated hepatic transaminase (HP:0002910) help
..expandHepatic agenesis (HP:0100839) help
..expandHepatic amyloidosis (HP:0012280) help
..expandHepatic calcification (HP:0006559) help
..expandHepatic fibrosis (HP:0001395) help
..expandHepatic granulomatosis (HP:0011955) help
..expandHepatic necrosis (HP:0002605) help
..expandHepatitis (HP:0012115) help
..expandHepatomegaly (HP:0002240) help
..expandHepatosplenomegaly (HP:0001433) help
..expandLiver abscess (HP:0100523) help
..expandNodular regenerative hyperplasia of liver (HP:0011954) help
..expandStorage in hepatocytes (HP:0031137) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030146HP:0030146Abnormal liver parenchyma morphology0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0030146HP:0030146Abnormal liver parenchyma morphology0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0030146HP:0030146Abnormal liver parenchyma morphology0FOCAD CL E G H5491423377OMIM:6199913
HP:0030146HP:0030146Abnormal liver parenchyma morphology0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0030146HP:0030146Abnormal liver parenchyma morphology0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0030146HP:0030146Abnormal liver parenchyma morphology0NPHP3 CL E G H270317907ORPHA:3032NPHP3-related Meckel-like syndromeHP:0040282 - Frequent157
HP:0030146HP:0030146Abnormal liver parenchyma morphology0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0030146HP:0030146Abnormal liver parenchyma morphology0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0030146HP:0030146Abnormal liver parenchyma morphology0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset82
HP:0030146HP:0033197Hepatic lobular inflammation1 CL E G H
HP:0030146HP:0032221Periportal emperipolesis1 CL E G H
HP:0030146HP:0100752Abnormal liver lobulation1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0030146HP:0033193Ballooning hepatocyte degeneration1FOCAD CL E G H5491423377OMIM:6199913
HP:0030146HP:0032021Eosinophilic liver infiltration1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0030146HP:0033193Ballooning hepatocyte degeneration1SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset82


Genes (9) :BMPER BTNL2 FOCAD HLA-DRB1 JAK1 NPHP3 PMM2 PTRH2 SLC25A13

Diseases (8) :OMIM:608022 ORPHA:797 OMIM:619991 OMIM:618999 ORPHA:3032 ORPHA:79318 ORPHA:456312 OMIM:603471
 

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