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
..Postauricular skin tag (HP:0004451)

Term ID:

4451

Name:

Postauricular skin tag

Synonym:

Postauricular acrochordon; Postauricular fibroepithelial polyp; Skin tag behind the ear

Definition:

A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).

Comments:

Reference:

HP:0004451

Genes and Diseases:

Child Nodes:

Sister Nodes:

Periauricular skin pits (HP:0100277)

Preauricular cyst (HP:0040297)

Preauricular skin furrow (HP:0004450)

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:0004451	HP:0004451	Postauricular skin tag	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2

Genes (1) :GNAI3

Diseases (1) :OMIM:602483

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