Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal brain positron emission tomography (HP:0012657)

Parent Node:
Abnormal brain FDG positron emission tomography (HP:0012658)

..Starting node
..Parietal hypometabolism in FDG PET (HP:0012662)

Term ID:

12662

Name:

Parietal hypometabolism in FDG PET

Synonym:

Definition:

Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.

Comments:

Reference:

HP:0012662

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypothalamic hypometabolism in FDG PET (HP:0012661)

Prefrontal hypometabolism in FDG PET (HP:0012659)

Thalamic hypometabolism in FDG PET (HP:0012660)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012662	HP:0012662	Parietal hypometabolism in FDG PET	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4	39
HP:0012662	HP:0012662	Parietal hypometabolism in FDG PET	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4	59

Genes (2) :APOE PSEN2

Diseases (1) :OMIM:606889

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