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:
Palmar hyperkeratosis (HP:0010765)

Grandparent Node:
Plantar hyperkeratosis (HP:0007556)

Parent Node:
Palmoplantar hyperkeratosis (HP:0000972)

..Starting node
..Focal friction-related palmoplantar hyperkeratosis (HP:0007497)

Term ID:

7497

Name:

Focal friction-related palmoplantar hyperkeratosis

Synonym:

Hyperkeratosis, palmoplantar, focal friction-related

Definition:

Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.

Comments:

Reference:

HP:0007497

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital palmoplantar hyperkeratosis (HP:0007545)

Congenital symmetrical palmoplantar keratosis (HP:0007553)

Diffuse palmoplantar hyperkeratosis (HP:0007447)

obsolete Palmoplantar keratosis with erythema and scale (HP:0007548)

Punctate palmoplantar hyperkeratosis (HP:0007530)

Spinous keratoses of palms and soles (HP:0007613)

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:0007497	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0007497	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173

Genes (2) :KRT14 KRT5

Diseases (1) :ORPHA:79400

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