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
..Facial wrinkling (HP:0009762)

Term ID:

9762

Name:

Facial wrinkling

Synonym:

Facial wrinkling

Definition:

Excessive wrinkling of the skin of the face.

Comments:

Reference:

HP:0009762

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excessive wrinkled skin (HP:0007392)

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

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:0009762	HP:0009762	Facial wrinkling	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0009762	HP:0009762	Facial wrinkling	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0009762	HP:0009762	Facial wrinkling	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0009762	HP:0009762	Facial wrinkling	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23

Genes (3) :CAV1 MED12 NAA10

Diseases (4) :OMIM:606721 ORPHA:93932 OMIM:305450 OMIM:300855

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