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:
Somatic sensory dysfunction (HP:0003474)

Parent Node:
Impaired vibratory sensation (HP:0002495)

..Starting node
..Abolished vibration sense (HP:0006944)

Term ID:

6944

Name:

Abolished vibration sense

Synonym:

Apallesthesia

Definition:

A complete loss of the ability to perceive vibration.

Comments:

Reference:

HP:0006944

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired distal vibration sensation (HP:0006886)

Impaired vibration sensation in the lower limbs (HP:0002166)

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:0006944	HP:0006944	Abolished vibration sense	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0006944	HP:0006944	Abolished vibration sense	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0006944	HP:0006944	Abolished vibration sense	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0006944	HP:0006944	Abolished vibration sense	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63

Genes (4) :DDHD1 PNPT1 SLC12A6 VCP

Diseases (4) :ORPHA:101008 OMIM:608703 OMIM:620068 ORPHA:435387

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