Visualize Submit Comment
Metadata
ID DOID:0110790
Name hereditary spastic paraplegia 39
Definition A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
https://www.ncbi.nlm.nih.gov/pubmed/18313024
Xrefs

GARD:4924

ICD10CM:G11.4

OMIM:612020

ORDO:139480

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 39 [EXACT]

autosomal recessive spastic paraplegia type 39 [EXACT]

NTE-related motor neuron disorder [EXACT]

NTEMND [EXACT]

spastic paraplegia due to neuropathy target esterase mutation [EXACT]

spastic paraplegia due to NTE mutation [EXACT]

SPG39 [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

Add an item to the term tracker