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

Term ID:

31007

Name:

Orofacial action-specific dystonia induced by speech

Synonym:

Jaw dystonia induced by speaking

Definition:

Comments:

Reference:

HP:0031007

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharospasm (HP:0000643)

Lingual dystonia (HP:0031008)

Oromandibular dystonia (HP:0012048)

Torticollis (HP:0000473)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031007	HP:0031007	Orofacial action-specific dystonia induced by speech	0	CL E G H

Genes (0) :

Diseases (0) :

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