Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

dystonia 23

Synonyms

dystonia 23

CACNA1B dystonic disorder

dystonic disorder caused by mutation in CACNA1B

dystonia type 23

DYT23

adult-onset cervical dystonia, DYT23 type

Definitions

Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.

ID

http://purl.obolibrary.org/obo/MONDO_0013928

database_cross_reference

Orphanet:420492

OMIM:614860

UMLS:C3538999

DOID:0090051

definition

Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0090051

http://purl.obolibrary.org/obo/Orphanet_420492

https://omim.org/entry/614860

http://linkedlifedata.com/resource/umls/id/C3538999

has_exact_synonym

dystonia 23

CACNA1B dystonic disorder

dystonic disorder caused by mutation in CACNA1B

dystonia type 23

DYT23

has_related_synonym

adult-onset cervical dystonia, DYT23 type

id

MONDO:0013928

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

label

dystonia 23

notation

MONDO:0013928

prefLabel

dystonia 23

treeView

http://purl.obolibrary.org/obo/MONDO_0000477

http://purl.obolibrary.org/obo/MONDO_0015990

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000477

http://purl.obolibrary.org/obo/MONDO_0015990

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http://purl.obolibrary.org/obo/DOID_0090051 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0013928 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0013928 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/OMIM/614860 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM