OBO ID: DOID:0090050
Term Name: dystonia 27 Search Ontology:
Synonyms:
Definition: A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (2)
References:
Ontology: Human Disease   ( DOID:0090050 )
Relationships
is a type of:
OTHER dystonia 27 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL6A3 Dystonia 27 616411
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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