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:
Prematurely aged appearance (HP:0007495)

Parent Node:
Premature skin wrinkling (HP:0100678)

..Starting node
..Neonatal wrinkled skin of hands and feet (HP:0007414)

Term ID:

7414

Name:

Neonatal wrinkled skin of hands and feet

Synonym:

Wrinkled skin of hands and feet in newborn

Definition:

Comments:

Reference:

HP:0007414

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excessive wrinkled skin (HP:0007392)

Facial wrinkling (HP:0009762)

Periorbital wrinkles (HP:0000607)

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:0007414	HP:0007414	Neonatal wrinkled skin of hands and feet	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0007414	HP:0007414	Neonatal wrinkled skin of hands and feet	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52

Genes (2) :ATP6V0A2 GORAB

Diseases (2) :OMIM:278250 OMIM:231070

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