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:
Abnormality of the scalp hair (HP:0100037)

Grandparent Node:
Congenital abnormal hair pattern (HP:0011361)

Parent Node:
Abnormality of the hairline (HP:0009553)

..Starting node
..Preauricular hair displacement (HP:0009554)

Term ID:

9554

Name:

Preauricular hair displacement

Synonym:

Hair displacement, preauricular, towards lateral cheekbone; Hair growing down to cheek; Projection of scalp hair onto lateral cheek

Definition:

An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.

Comments:

Reference:

HP:0009554

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the frontal hairline (HP:0000599)

Abnormality of the posterior hairline (HP:0030141)

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:0009554	HP:0009554	Preauricular hair displacement	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0009554	HP:0009554	Preauricular hair displacement	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0009554	HP:0009554	Preauricular hair displacement	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090

Genes (3) :POLR1B TCOF1 TSC1

Diseases (3) :OMIM:618939 OMIM:154500 OMIM:191100

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