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:
Focal dystonia (HP:0004373)

Parent Node:
Craniofacial dystonia (HP:0012179)

..Starting node
..Lingual dystonia (HP:0031008)

Term ID:

31008

Name:

Lingual dystonia

Synonym:

Tongue dystonia

Definition:

Involuntary protrusions, movements, spams and contortions of the tongue.

Comments:

Reference:

HP:0031008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharospasm (HP:0000643)

Orofacial action-specific dystonia induced by speech (HP:0031007)

Oromandibular dystonia (HP:0012048)

Torticollis (HP:0000473)

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:0031008	HP:0031008	Lingual dystonia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0031008	HP:0031008	Lingual dystonia	0	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type	HP:0040282 - Frequent	13
HP:0031008	HP:0031008	Lingual dystonia	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.	13
HP:0031008	HP:0031008	Lingual dystonia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0031008	HP:0031008	Lingual dystonia	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.	42
HP:0031008	HP:0031008	Lingual dystonia	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional	42
HP:0031008	HP:0031008	Lingual dystonia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (5) :ATP13A2 GNAL NGLY1 THAP1 VPS13A

Diseases (7) :ORPHA:306674 ORPHA:329466 OMIM:615073 ORPHA:404454 OMIM:602629 ORPHA:98806 ORPHA:2388

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