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:
Cutis laxa (HP:0000973)

Parent Node:
Redundant skin (HP:0001582)

..Starting node
..Redundant skin on fingers (HP:0007516)

Term ID:

7516

Name:

Redundant skin on fingers

Synonym:

Extra skin on fingers

Definition:

Loose and sagging skin of the fingers.

Comments:

Reference:

HP:0007516

Genes and Diseases:

Child Nodes:

Sister Nodes:

Redundant neck skin (HP:0005989)

Redundant skin in infancy (HP:0007595)

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:0007516	HP:0007516	Redundant skin on fingers	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53

Genes (1) :NPR2

Diseases (1) :OMIM:602875

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