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
..Self-biting (HP:0012169)

Term ID:

12169

Name:

Self-biting

Synonym:

Definition:

Habitual biting of one's own body.

Comments:

Reference:

HP:0012169

Genes and Diseases:

Child Nodes:

........

Nail-biting (HP:0012170)

Sister Nodes:

Hair-pulling (HP:0012167)

Head-banging (HP:0012168)

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:0012169	HP:0012169	Self-biting	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0012169	HP:0012169	Self-biting	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0012169	HP:0012169	Self-biting	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0012169	HP:0012169	Self-biting	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0012169	HP:0012169	Self-biting	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0012169	HP:0012169	Self-biting	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0012169	HP:0012169	Self-biting	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012169	HP:0012169	Self-biting	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0012169	HP:0012170	Nail-biting	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0012169	HP:0012170	Nail-biting	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75

Genes (8) :ATP1A1 CEP104 DNM1L FMR1 NEXMIF NTRK1 PIDD1 SYT1

Diseases (8) :OMIM:618314 OMIM:619988 OMIM:614388 OMIM:300624 OMIM:300912 ORPHA:642 OMIM:619827 ORPHA:522077

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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