Visualize Submit Comment

Metadata
ID	DOID:0110817
Name	hereditary spastic paraplegia 72A
Definition	A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. https://www.ncbi.nlm.nih.gov/pubmed/24388663
Xrefs	ICD10CM:G11.4 MIM:615625 ORDO:401849
Subsets	DO_rare_slim
Synonyms	autosomal spastic paraplegia type 72 [EXACT] SPG72 [EXACT]
Parent Relationships	is_a hereditary spastic paraplegia is_a autosomal recessive disease is_a autosomal dominant disease