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:
Palmar hyperkeratosis (HP:0010765)

Grandparent Node:
Plantar hyperkeratosis (HP:0007556)

Parent Node:
Palmoplantar hyperkeratosis (HP:0000972)

..Starting node
..Diffuse palmoplantar hyperkeratosis (HP:0007447)

Term ID:

7447

Name:

Diffuse palmoplantar hyperkeratosis

Synonym:

Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar

Definition:

Diffuse abnormal thickening of the skin on the palms and soles.

Comments:

Reference:

HP:0007447

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital palmoplantar hyperkeratosis (HP:0007545)

Congenital symmetrical palmoplantar keratosis (HP:0007553)

Focal friction-related palmoplantar hyperkeratosis (HP:0007497)

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:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040281 - Very frequent	5
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040281 - Very frequent	100
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040281 - Very frequent	100
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	HP:0040281 - Very frequent
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	HP:0040281 - Very frequent	15
HP:0007447	HP:0007447	Diffuse palmoplantar hyperkeratosis	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent	94

Genes (10) :AQP5 JUP KLHL24 KRT1 KRT16 KRT9 RHBDF2 SERPINA12 SLURP1 SNAP29

Diseases (10) :ORPHA:2337 OMIM:600231 OMIM:601214 OMIM:617294 ORPHA:2199 ORPHA:79503 ORPHA:530838 OMIM:148500 ORPHA:86923 ORPHA:66631

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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