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Metadata
ID DOID:0110771
Name hereditary spastic paraplegia 18
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
https://www.ncbi.nlm.nih.gov/pubmed/21330303
Xrefs

GARD:4922

ICD10CM:G11.4

OMIM:611225

ORDO:209951

Synonyms

autosomal recessive spastic paraplegia 18 [EXACT]

autosomal recessive spastic paraplegia type 18 [EXACT]

IDMDC [EXACT]

intellectual disability, motor dysfunction and joint contractures [EXACT]

SPG18 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

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