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:
Sensory neuropathy (HP:0000763)

Parent Node:
Paresthesia (HP:0003401)

..Starting node
..Acroparesthesia (HP:0031006)

Term ID:

31006

Name:

Acroparesthesia

Synonym:

Definition:

A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.

Comments:

Reference:

HP:0031006

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysesthesia (HP:0012534)

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:0031006	HP:0031006	Acroparesthesia	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0031006	HP:0031006	Acroparesthesia	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0031006	HP:0031006	Acroparesthesia	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0031006	HP:0031006	Acroparesthesia	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0031006	HP:0031006	Acroparesthesia	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0031006	HP:0031006	Acroparesthesia	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0031006	HP:0031006	Acroparesthesia	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0031006	HP:0031006	Acroparesthesia	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent	69
HP:0031006	HP:0031006	Acroparesthesia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0031006	HP:0031006	Acroparesthesia	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0031006	HP:0033660	Hand paresthesia	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0031006	HP:0033660	Hand paresthesia	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0031006	HP:0033660	Hand paresthesia	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149

Genes (8) :COMP GALC HEXB LMX1B PMP22 PRNP SLC26A2 SPTLC2

Diseases (10) :OMIM:619161 ORPHA:206448 ORPHA:206443 ORPHA:309162 ORPHA:2614 ORPHA:90658 OMIM:162500 ORPHA:356 ORPHA:93307 OMIM:613640

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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