Human Phenotype Ontology

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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:
Mental deterioration (HP:0001268)

Parent Node:
Dementia (HP:0000726)

..Starting node
..Frontolimbic dementia (HP:0002439)

Term ID:

2439

Name:

Frontolimbic dementia

Synonym:

Definition:

Comments:

Reference:

HP:0002439

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontal lobe dementia (HP:0000727)

Frontotemporal dementia (HP:0002145)

Subcortical dementia (HP:0007123)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002439	HP:0002439	Frontolimbic dementia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140

Genes (1) :MAPT

Diseases (1) :OMIM:601104

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