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 periauricular region morphology (HP:0000383)

Grandparent Node:
Skin pit (HP:0100276)

Parent Node:
Periauricular skin pits (HP:0100277)

..Starting node
..Supraauricular pit (HP:0008606)

Term ID:

8606

Name:

Supraauricular pit

Synonym:

Pit above the ear; Supraauricular fistula; Supraauricular sinus; Supraauricular sinuses

Definition:

Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.

Comments:

Reference:

HP:0008606

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postauricular pit (HP:0004464)

Preauricular pit (HP:0004467)

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:0008606	HP:0008606	Supraauricular pit	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0008606	HP:0008606	Supraauricular pit	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (1) :TFAP2A

Diseases (2) :ORPHA:1297 OMIM:113620

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