Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Head-banging (HP:0012168)

Term ID:

12168

Name:

Head-banging

Synonym:

Head-banging

Definition:

Habitual striking of one's own head against a surface such as a mattress or wall of a crib.

Comments:

Reference:

HP:0012168

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hair-pulling (HP:0012167)

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:0012168	HP:0012168	Head-banging	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0012168	HP:0012168	Head-banging	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0012168	HP:0012168	Head-banging	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012168	HP:0012168	Head-banging	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0012168	HP:0012168	Head-banging	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.	150
HP:0012168	HP:0012168	Head-banging	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0012168	HP:0012168	Head-banging	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012168	HP:0012168	Head-banging	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012168	HP:0012168	Head-banging	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (9) :DPAGT1 KAT5 MAPK1 PIGF RAI1 SNRPN SVBP TAOK1 VPS13A

Diseases (9) :ORPHA:86309 OMIM:619103 OMIM:619087 OMIM:619356 OMIM:182290 ORPHA:177907 OMIM:618569 OMIM:619575 ORPHA:2388

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

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