Human Phenotype Ontology

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 epidermal morphology (HP:0011124)

Parent Node:
Scaling skin (HP:0040189)

..Starting node
..Scaling skin on fingertip (HP:0025525)

Term ID:

25525

Name:

Scaling skin on fingertip

Synonym:

Definition:

Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.

Comments:

Reference:

HP:0025525

Genes and Diseases:

Child Nodes:

Sister Nodes:

Palmoplantar scaling skin (HP:0025524)

Psoriasiform lesion (HP:0025526)

White scaling skin (HP:0040190)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025525	HP:0025525	Scaling skin on fingertip	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis

Genes (1) :LORICRIN

Diseases (1) :ORPHA:79395

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