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:
Abnormal cheek morphology (HP:0004426)

Parent Node:
Abnormal periauricular region morphology (HP:0000383)

..Starting node
..Preauricular skin furrow (HP:0004450)

Term ID:

4450

Name:

Preauricular skin furrow

Synonym:

Preauricular skin furrows; Preauricular skin groove; Preauricular skin sulcus; Skin groove in front of the ear; Skin sulcus in front of the ear

Definition:

A groove of the skin immediately in front of the ear.

Comments:

Reference:

HP:0004450

Genes and Diseases:

Child Nodes:

Sister Nodes:

Periauricular skin pits (HP:0100277)

Postauricular skin tag (HP:0004451)

Preauricular cyst (HP:0040297)

Preauricular skin tag (HP:0000384)

Pretragal ectopia (HP:0030024)

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:0004450	HP:0004450	Preauricular skin furrow	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0004450	HP:0004450	Preauricular skin furrow	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175

Genes (1) :FGFR2

Diseases (2) :OMIM:123790 ORPHA:1555

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