Search Ontology:
Human Disease

torsion dystonia 2

Term ID
DOID:0090038
Synonyms
Definition
A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (2)
References
Ontology
Human Disease   ( DOID:0090038 )
Relationships
is a type of
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Genes Involved
Zebrafish Models