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Metadata
ID	DOID:0112348
Name	hereditary spastic paraplegia 78
Definition	A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. https://pubmed.ncbi.nlm.nih.gov/28137957/
Xrefs	MIM:617225 ORDO:513436
Subsets	DO_rare_slim
Synonyms	spastic paraplegia 78 autosomal recessive [EXACT] SPG78 [EXACT]
Parent Relationships	is_a hereditary spastic paraplegia is_a autosomal recessive disease