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
..Frontal lobe dementia (HP:0000727)

Term ID:

727

Name:

Frontal lobe dementia

Synonym:

Definition:

Comments:

Reference:

HP:0000727

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontolimbic dementia (HP:0002439)

Frontotemporal dementia (HP:0002145)

Subcortical dementia (HP:0007123)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000727	HP:0000727	Frontal lobe dementia	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	297	15559	615903
HP:0000727	HP:0000727	Frontal lobe dementia	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0000727	HP:0000727	Frontal lobe dementia	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	581	6893	157140
HP:0000727	HP:0000727	Frontal lobe dementia	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	501	9508	104311
HP:0000727	HP:0000727	Frontal lobe dementia	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0000727	HP:0000727	Frontal lobe dementia	0	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0000727	HP:0000727	Frontal lobe dementia	0	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0000727	HP:0000727	Frontal lobe dementia	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	110	12449	604142
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :CHCHD10 CSF1R MAPT PSEN1 TBP TREM2 TYROBP

Diseases (6) :615911 221820 600274 607136 2770 221770

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