Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	dystonia 23
Definitions	A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
ID	http://purl.obolibrary.org/obo/DOID_0090051
database_cross_reference	OMIM:614860 ICD10CM:G24.8 ORDO:420492
definition	A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0090051
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	dystonia 23
notation	DOID:0090051
prefLabel	dystonia 23
subClassOf	http://purl.obolibrary.org/obo/DOID_0050836 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/614860	Online Mendelian Inheritance in Man	LOOM