Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Abnormal brain positron emission tomography (HP:0012657)help
Term ID: 12657
Name: Abnormal brain positron emission tomography
Synonym: Abnormal brain PET scan
Definition: A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.
Comments:
Reference: HP:0012657
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal brain FDG positron emission tomography (HP:0012658) help
................... HP:0012659 Prefrontal hypometabolism in FDG PET
................... HP:0012660 Thalamic hypometabolism in FDG PET
................... HP:0012661 Hypothalamic hypometabolism in FDG PET
................... HP:0012662 Parietal hypometabolism in FDG PET

 Sister Nodes: 
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012657HP:0012657Abnormal brain positron emission tomography0 CL E G H
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1 CL E G H
HP:0012657HP:0012661Hypothalamic hypometabolism in FDG PET2 CL E G H
HP:0012657HP:0012660Thalamic hypometabolism in FDG PET2 CL E G H
HP:0012657HP:0012659Prefrontal hypometabolism in FDG PET2 CL E G H
HP:0012657HP:0012662Parietal hypometabolism in FDG PET2 CL E G H


Genes (15) :ABCC8 C9ORF72 CHD2 CHMP2B COQ2 ERLIN2 GRN KCNJ11 MAPT PSEN1 SLC6A1 SQSTM1 TMEM106B TREM2 VCP

Diseases (8) :276575 275864 100070 1942 227510 98933 276580 209951
 

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