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:
Abnormal epidermal morphology (HP:0011124)

Parent Node:
Scaling skin (HP:0040189)

..Starting node
..Palmoplantar scaling skin (HP:0025524)

Term ID:

25524

Name:

Palmoplantar scaling skin

Synonym:

Palmoplantar psoriasis

Definition:

Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.

Comments:

Reference:

HP:0025524

Genes and Diseases:

Child Nodes:

Sister Nodes:

Psoriasiform lesion (HP:0025526)

Scaling skin on fingertip (HP:0025525)

White scaling skin (HP:0040190)

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:0025524	HP:0025524	Palmoplantar scaling skin	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0025524	HP:0025524	Palmoplantar scaling skin	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0025524	HP:0025524	Palmoplantar scaling skin	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98

Genes (3) :DSP KRT1 TGM1

Diseases (3) :OMIM:607655 ORPHA:530838 ORPHA:281127

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