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:
Abnormal foot morphology (HP:0001760)

Grandparent Node:
Regional abnormality of skin (HP:0011356)

Parent Node:
Abnormal skin morphology of the palm (HP:0040211)

Parent Node:
Abnormality of the plantar skin of foot (HP:0100872)

..Starting node
..Palmoplantar blistering (HP:0007446)

Term ID:

7446

Name:

Palmoplantar blistering

Synonym:

Definition:

A type of blistering that affects the skin of the palms of the hands and the soles of the feet.

Comments:

Reference:

HP:0007446

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal plantar dermatoglyphics (HP:0010506)

Convex contour of sole (HP:0011303)

Deep plantar creases (HP:0001869)

Hypertrophy of skin of soles (HP:0007403)

Multiple plantar creases (HP:0008113)

Palmoplantar cutis gyrata (HP:0007469)

Palmoplantar cutis laxa (HP:0007517)

Palmoplantar hyperhidrosis (HP:0007410)

Plantar edema (HP:0025537)

Plantar hyperkeratosis (HP:0007556)

Plantar pits (HP:0010612)

Plantar telangiectasia (HP:0100870)

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:0007446	HP:0007446	Palmoplantar blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0007446	HP:0007446	Palmoplantar blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0007446	HP:0007446	Palmoplantar blistering	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type	.	110
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT5 CL E G H	3852	6442	OMIM:619588	EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B		173
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0007446	HP:0007446	Palmoplantar blistering	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4
HP:0007446	HP:0007446	Palmoplantar blistering	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0007446	HP:0007446	Palmoplantar blistering	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759

Genes (11) :COL7A1 DSG1 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B PKP1 PLEC

Diseases (13) :ORPHA:79410 ORPHA:79409 OMIM:148700 ORPHA:530838 ORPHA:89838 OMIM:131800 ORPHA:79400 ORPHA:2309 OMIM:619555 OMIM:619588 OMIM:619594 OMIM:604536 ORPHA:79401

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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