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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012657HP:0012657Abnormal brain positron emission tomography0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0012657HP:0012657Abnormal brain positron emission tomography0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0012657HP:0012657Abnormal brain positron emission tomography0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0012657HP:0012657Abnormal brain positron emission tomography0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0012657HP:0012657Abnormal brain positron emission tomography0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasia56
HP:0012657HP:0012657Abnormal brain positron emission tomography0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0012657HP:0012657Abnormal brain positron emission tomography0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasia42
HP:0012657HP:0012657Abnormal brain positron emission tomography0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0012657HP:0012657Abnormal brain positron emission tomography0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0012657HP:0012657Abnormal brain positron emission tomography0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0012657HP:0012657Abnormal brain positron emission tomography0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasia126
HP:0012657HP:0012657Abnormal brain positron emission tomography0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0012657HP:0012657Abnormal brain positron emission tomography0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasia140
HP:0012657HP:0012657Abnormal brain positron emission tomography0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0012657HP:0012657Abnormal brain positron emission tomography0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0012657HP:0012657Abnormal brain positron emission tomography0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0012657HP:0012657Abnormal brain positron emission tomography0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0012657HP:0012657Abnormal brain positron emission tomography0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasia241
HP:0012657HP:0012657Abnormal brain positron emission tomography0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0012657HP:0012657Abnormal brain positron emission tomography0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0012657HP:0012657Abnormal brain positron emission tomography0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0012657HP:0012657Abnormal brain positron emission tomography0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0012657HP:0012657Abnormal brain positron emission tomography0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0012657HP:0012657Abnormal brain positron emission tomography0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0012657HP:0012657Abnormal brain positron emission tomography0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0012657HP:0012657Abnormal brain positron emission tomography0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0012657HP:0012657Abnormal brain positron emission tomography0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasia
HP:0012657HP:0012657Abnormal brain positron emission tomography0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0012657HP:0012657Abnormal brain positron emission tomography0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0012657HP:0012657Abnormal brain positron emission tomography0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasia31
HP:0012657HP:0012657Abnormal brain positron emission tomography0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0012657HP:0012657Abnormal brain positron emission tomography0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasia63
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent56
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent56
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent42
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent42
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent126
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent126
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent140
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent140
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent241
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent241
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent62
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent31
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent31
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent63
HP:0012657HP:0012658Abnormal brain FDG positron emission tomography1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent63
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 PET2APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0012657HP:0012662Parietal hypometabolism in FDG PET2PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459


Genes (23) :AKT1 APOE BAP1 C9ORF72 CHMP2B COQ2 GRN MAPT NF2 PDGFB PIK3CA PSEN1 PSEN2 SMARCB1 SMARCE1 SMO SQSTM1 SUFU TERT TMEM106B TRAF7 TREM2 VCP

Diseases (6) :ORPHA:2495 OMIM:606889 ORPHA:275864 ORPHA:100070 ORPHA:227510 ORPHA:98933
 

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