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Metadata
ID	DOID:0090038
Name	torsion dystonia 2
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. https://www.ncbi.nlm.nih.gov/pubmed/25799108, https://www.omim.org/entry/224500
Xrefs	ICD10CM:G24.1 MIM:224500 ORDO:99657
Subsets	DO_rare_slim
Parent Relationships	is_a dystonia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance