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:
Involuntary movements (HP:0004305)

Parent Node:
Tics (HP:0100033)

..Starting node
..Phonic tics (HP:0100035)

Term ID:

100035

Name:

Phonic tics

Synonym:

Verbal tics; Vocal tics

Definition:

Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.

Comments:

Reference:

HP:0100035

Genes and Diseases:

Child Nodes:

Sister Nodes:

Motor tics (HP:0100034)

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:0100035	HP:0100035	Phonic tics	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0100035	HP:0100035	Phonic tics	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0100035	HP:0100035	Phonic tics	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0100035	HP:0100035	Phonic tics	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0100035	HP:0100035	Phonic tics	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130

Genes (5) :GNB1 HDC PANK2 SLITRK1 VPS13A

Diseases (4) :OMIM:616973 OMIM:137580 OMIM:234200 ORPHA:2388

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