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:
Self-injurious behavior (HP:0100716)

Parent Node:
Involuntary movements (HP:0004305)

Parent Node:
Self-mutilation (HP:0000742)

..Starting node
..Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)

Term ID:

8767

Name:

Self-mutilation of tongue and lips due to involuntary movements

Synonym:

Self-mutilation of tongue and lips due to involuntary movements

Definition:

Comments:

Reference:

HP:0008767

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0008767	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	2362	1908	605978
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :VPS13A

Diseases (1) :200150

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.