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:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Parent Node:
Cerebral atrophy (HP:0002059)

..Starting node
..Frontotemporal cerebral atrophy (HP:0006892)

Term ID:

6892

Name:

Frontotemporal cerebral atrophy

Synonym:

Cerebral atrophy, frontotemporal

Definition:

Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.

Comments:

Reference:

HP:0006892

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral cortical atrophy (HP:0002120)

Diffuse cerebral atrophy (HP:0002506)

Generalized cerebral atrophy/hypoplasia (HP:0007058)

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:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040283 - Occasional	2
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent	28
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0006892	HP:0006892	Frontotemporal cerebral atrophy	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63

Genes (17) :ATP1A3 C9ORF72 CHMP2B COG4 GABRA5 GRN HSD17B10 MAPT PLA2G6 PRKAR1B PSEN1 SPG21 SQSTM1 TMEM106B TREM2 TTC26 VCP

Diseases (11) :OMIM:619606 ORPHA:275864 ORPHA:100070 ORPHA:263501 OMIM:618559 ORPHA:391428 ORPHA:199351 OMIM:612953 ORPHA:412066 ORPHA:101001 OMIM:619534

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

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