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 aggressive, impulsive or violent behavior (HP:0006919)

Parent Node:
Self-injurious behavior (HP:0100716)

..Starting node
..Hair-pulling (HP:0012167)

Term ID:

12167

Name:

Hair-pulling

Synonym:

Trichotillomania

Definition:

A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.

Comments:

Reference:

HP:0012167

Genes and Diseases:

Child Nodes:

Sister Nodes:

Head-banging (HP:0012168)

Self-biting (HP:0012169)

Self-mutilation (HP:0000742)

Skin-picking (HP:0012166)

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:0012167	HP:0012167	Hair-pulling	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0012167	HP:0012167	Hair-pulling	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0012167	HP:0012167	Hair-pulling	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0012167	HP:0012167	Hair-pulling	0	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.	58
HP:0012167	HP:0012167	Hair-pulling	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (5) :EEF1A2 SHANK3 SLC1A4 SLITRK1 VPS13A

Diseases (5) :OMIM:616393 ORPHA:48652 ORPHA:447997 OMIM:613229 ORPHA:2388

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