Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Craniofacial dystonia

Synonyms

Abnormal craniofacial muscle tone

Distorted craniofacial posture

Abnormal craniofacial posture

Abnormal facial muscle tone

Facial Dystonia

Definitions

A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.

ID

http://purl.obolibrary.org/obo/HP_0012179

creation date

2013-02-23T10:10:32Z

creator

https://orcid.org/0000-0002-0736-9199

database_cross_reference

UMLS:C4072883

UMLS:C4023011

UMLS:C1851915

definition

A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.

has broad synonym

Distorted craniofacial posture

Abnormal craniofacial posture

has exact synonym

Abnormal craniofacial muscle tone

has_narrow_synonym

Abnormal facial muscle tone

Facial Dystonia

id

HP:0012179

label

Craniofacial dystonia

notation

HP:0012179

prefLabel

Craniofacial dystonia

subClassOf

http://purl.obolibrary.org/obo/HP_0004373

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