Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Craniofacial dystonia

Synonyms

Abnormal craniofacial muscle tone

Abnormal facial muscle tone

Distorted craniofacial posture

Abnormal craniofacial posture

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:C1851915

UMLS:C4023011

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

has_obo_namespace

human_phenotype

id

HP:0012179

label

Craniofacial dystonia

notation

HP:0012179

prefLabel

Craniofacial dystonia

treeView

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

subClassOf

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

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http://purl.obolibrary.org/obo/DOID_0050845 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050845 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000486 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000486 Experimental Factor Ontology / 实验性因素本体 LOOM