Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Encephalopathy (HP:0001298)help
..Starting node
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Hepatic encephalopathy (HP:0002480)help
Term ID: 2480
Name: Hepatic encephalopathy
Synonym:
Definition: Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
Comments:
Reference: HP:0002480
Genes and Diseases:
 
       Child Nodes:
........expandChronic hepatic encephalopathy (HP:0007111) help

 Sister Nodes: 
..expandAcute encephalopathy (HP:0006846) help
..expandCongenital encephalopathy (HP:0007239) help
..expandEpileptic encephalopathy (HP:0200134) help
..expandHypoglycemic encephalopathy (HP:0006929) help
..expandInfantile encephalopathy (HP:0007105) help
..expandMitochondrial encephalopathy (HP:0006789) help
..expandNecrotizing encephalopathy (HP:0006976) help
..expandNonprogressive encephalopathy (HP:0007030) help
..expandProgressive encephalopathy (HP:0002448) help
..expandRecurrent encephalopathy (HP:0007335) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002480HP:0002480Hepatic encephalopathy0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0002480HP:0002480Hepatic encephalopathy0NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM1209515625608025
HP:0002480HP:0002480Hepatic encephalopathy0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0002480HP:0002480Hepatic encephalopathy0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM129910820300490
HP:0002480HP:0002480Hepatic encephalopathy0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1502592300079
HP:0002480HP:0007111Chronic hepatic encephalopathy1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0002480HP:0007111Chronic hepatic encephalopathy1NBAS CL E G H51594616483Infantile liver failure syndrome 2616483C3809651OMIM1209515625608025
HP:0002480HP:0007111Chronic hepatic encephalopathy1PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM12358724614168
HP:0002480HP:0007111Chronic hepatic encephalopathy1SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM129910820300490
HP:0002480HP:0007111Chronic hepatic encephalopathy1XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1502592300079
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (5) :DLD NBAS PCK1 SH2D1A XIAP

Diseases (4) :2394 616483 261680 308240
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.