dystonia 23
focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has material basis in heterozygous mutation in the CACNA1B gene on chromosome 9q34
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dystonia 23
Summary
dystonia 23 is a rare disease[1].
Key Facts
- dystonia 23's instance of is recorded as rare disease[2].
- dystonia 23's instance of is recorded as class of disease[3].
- dystonia 23's subclass of is recorded as focal dystonia[4].
- dystonia 23's subclass of is recorded as focal, segmental or multifocal dystonia[5].
- dystonia 23's subclass of is recorded as genetic disease[6].
- dystonia 23's subclass of is recorded as autosomal dominant disease[7].
- dystonia 23's OMIM ID is recorded as 614860[8].
- dystonia 23's Disease Ontology ID is recorded as DOID:0090051[9].
- dystonia 23's Orphanet ID is recorded as 420492[10].
- dystonia 23's health specialty is recorded as neurology[11].
- dystonia 23's genetic association is recorded as CACNA1B[12].
- dystonia 23's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090051[13].
- dystonia 23's exact match is recorded as http://identifiers.org/doid/DOID:0090051[14].
- dystonia 23's UMLS CUI is recorded as C3538999[15].
- dystonia 23's ICD-10-CM is recorded as G24.8[16].
- dystonia 23's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- dystonia 23's Mondo ID is recorded as MONDO_0013928[18].
- dystonia 23's UniProt disease ID is recorded as DI-04376[19].