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:
Abnormality of the periorbital region (HP:0000606)

Parent Node:
Premature skin wrinkling (HP:0100678)

..Starting node
..Periorbital wrinkles (HP:0000607)

Term ID:

607

Name:

Periorbital wrinkles

Synonym:

Excess periorbital skin wrinkling; Periorbital rhytids; Periorbital wrinkling; Wrinkles around the eyes

Definition:

Comments:

Reference:

HP:0000607

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excessive wrinkled skin (HP:0007392)

Facial wrinkling (HP:0009762)

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

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:0000607	HP:0000607	Periorbital wrinkles	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000607	HP:0000607	Periorbital wrinkles	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000607	HP:0000607	Periorbital wrinkles	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000607	HP:0000607	Periorbital wrinkles	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000607	HP:0000607	Periorbital wrinkles	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000607	HP:0000607	Periorbital wrinkles	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146

Genes (5) :CDH11 EDA EDAR EDARADD SMARCA2

Diseases (5) :ORPHA:1299 OMIM:305100 OMIM:224900 OMIM:614941 OMIM:601358

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