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:
Abnormally lax or hyperextensible skin (HP:0008067)

Grandparent Node:
Premature skin wrinkling (HP:0100678)

Parent Node:
Excessive wrinkled skin (HP:0007392)

..Starting node
..Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)

Term ID:

7407

Name:

Excessive skin wrinkling on dorsum of hands and fingers

Synonym:

Excessive skin wrinkling on back of hands and fingers

Definition:

Comments:

Reference:

HP:0007407

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excessive wrinkling of palmar skin (HP:0007605)

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:0007407	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040280 - Obligate	140
HP:0007407	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371

Genes (2) :ATP6V0A2 CFTR

Diseases (2) :ORPHA:2834 ORPHA:498359

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