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Metadata
ID DOID:0110796
Name hereditary spastic paraplegia 44
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/19056803
Xrefs

ICD10CM:G11.4

MIM:613206

ORDO:320401

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 44 [EXACT]

SPG44 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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