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:
Hyperkeratosis (HP:0000962)

Parent Node:
Palmoplantar keratoderma (HP:0000982)

..Starting node
..Honeycomb palmoplantar hyperkeratosis (HP:0007465)

Term ID:

7465

Name:

Honeycomb palmoplantar hyperkeratosis

Synonym:

Definition:

Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.

Comments:

Reference:

HP:0007465

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)

obsolete Congenital palmoplantar keratodermia (HP:0007597)

obsolete Diffuse palmoplantar keratoderma (HP:0007435)

Patchy palmoplantar hyperkeratosis (HP:0005588)

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:0007465	HP:0007465	Honeycomb palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0007465	HP:0007465	Honeycomb palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0007465	HP:0007465	Honeycomb palmoplantar hyperkeratosis	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040281 - Very frequent
HP:0007465	HP:0007465	Honeycomb palmoplantar hyperkeratosis	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2

Genes (3) :GJB2 LORICRIN POMP

Diseases (4) :ORPHA:494 OMIM:124500 ORPHA:79395 OMIM:601952

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