FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term torsion dystonia 2 ID (Ontology) DOID:0090038 (Human Disease)
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.
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 Genes
 torsion dystonia 2       1
 for disease ribbon | torsion dystonia 2       1
 model of | torsion dystonia 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
movement disease                 |
 |__dystonia_____________________|
                                 torsion dystonia 2  1 rec.
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Is a autosomal recessive disease
dystonia
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ICD10CM:G24.1
MIM:224500
ORDO:99657