dystonia 25
multifocal dystonia characterized by autosomal dominant inheritance of cervical, laryngeal and hand-forearm dystonia that has material basis in heterozygous mutation in the GNAL gene on chromosome 18p11
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dystonia 25
Summary
dystonia 25 is a rare disease[1].
Key Facts
- dystonia 25's instance of is recorded as rare disease[2].
- dystonia 25's instance of is recorded as class of disease[3].
- dystonia 25's subclass of is recorded as multifocal dystonia[4].
- dystonia 25's subclass of is recorded as focal, segmental or multifocal dystonia[5].
- dystonia 25's subclass of is recorded as genetic disease[6].
- dystonia 25's subclass of is recorded as autosomal dominant disease[7].
- dystonia 25's OMIM ID is recorded as 615073[8].
- dystonia 25's Disease Ontology ID is recorded as DOID:0090055[9].
- dystonia 25's Orphanet ID is recorded as 329466[10].
- dystonia 25's health specialty is recorded as neurology[11].
- dystonia 25's genetic association is recorded as GNAL[12].
- dystonia 25's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090055[13].
- dystonia 25's exact match is recorded as http://identifiers.org/doid/DOID:0090055[14].
- dystonia 25's UMLS CUI is recorded as C3554447[15].
- dystonia 25's UMLS CUI is recorded as C4304670[16].
- dystonia 25's ICD-10-CM is recorded as G24.1[17].
- dystonia 25's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- dystonia 25's Mondo ID is recorded as MONDO_0014033[19].
- dystonia 25's UniProt disease ID is recorded as DI-03651[20].