Human Phenotype Ontology

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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:
Peripheral neuropathy (HP:0009830)

Parent Node:
Sensory neuropathy (HP:0000763)

..Starting node
..Hyperesthesia (HP:0100963)

Term ID:

100963

Name:

Hyperesthesia

Synonym:

Hyperaesthesia

Definition:

Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.

Comments:

Reference:

HP:0100963

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal peripheral sensory neuropathy (HP:0007067)

Distal sensory impairment of all modalities (HP:0003409)

Paresthesia (HP:0003401)

Sensory ataxic neuropathy (HP:0003434)

Sensory axonal neuropathy (HP:0003390)

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:0100963	HP:0100963	Hyperesthesia	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare	71
HP:0100963	HP:0100963	Hyperesthesia	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040282 - Frequent	373
HP:0100963	HP:0100963	Hyperesthesia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0100963	HP:0100963	Hyperesthesia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100963	HP:0100963	Hyperesthesia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0100963	HP:0100963	Hyperesthesia	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0100963	HP:0100963	Hyperesthesia	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare	97
HP:0100963	HP:0100963	Hyperesthesia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0100963	HP:0100963	Hyperesthesia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23

Genes (9) :ATL1 COL1A1 GALC HRAS NALCN NF2 NTRK1 PSAP UNC80

Diseases (7) :ORPHA:100984 ORPHA:1310 ORPHA:206436 ORPHA:2874 ORPHA:371364 ORPHA:637 ORPHA:642

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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