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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Acute encephalopathy (HP:0006846)help
Term ID: 6846
Name: Acute encephalopathy
Synonym:
Definition:
Comments:
Reference: HP:0006846
Genes and Diseases:
 
       Child Nodes:
........expandAcute necrotizing encephalopathy (HP:0006965) help

 Sister Nodes: 
..expandCongenital encephalopathy (HP:0007239) help
..expandEpileptic encephalopathy (HP:0200134) help
..expandHepatic encephalopathy (HP:0002480) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006846HP:0006846Acute encephalopathy0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0006846HP:0006846Acute encephalopathy0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0006846HP:0006846Acute encephalopathy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0006846HP:0006846Acute encephalopathy0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0006846HP:0006846Acute encephalopathy0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0006846HP:0006846Acute encephalopathy0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040281 - Very frequent57
HP:0006846HP:0006846Acute encephalopathy0SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiencyHP:0040281 - Very frequent207
HP:0006846HP:0006846Acute encephalopathy0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0006846HP:0006846Acute encephalopathy0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0006846HP:0006846Acute encephalopathy0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0006846HP:0006965Acute necrotizing encephalopathy1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27


Genes (9) :ACY1 COG8 NDUFS4 PCCA PCCB RANBP2 SLC22A5 SLC25A15 SQOR

Diseases (9) :OMIM:609924 ORPHA:95428 OMIM:252010 OMIM:606054 ORPHA:88619 ORPHA:158 OMIM:238970 ORPHA:415 OMIM:619221
 

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