hereditary spastic paraplegia 39

Summary

DOID:0110790 - hereditary spastic paraplegia 39

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.

Synonyms: autosomal recessive spastic paraplegia 39, autosomal recessive spastic paraplegia type 39, NTEMND, NTE-related motor neuron disorder, spastic paraplegia due to neuropathy target esterase mutation, spastic paraplegia due to NTE mutation, SPG39

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pnpla6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012787 - hereditary spastic paraplegia 39

MONDO:0012787 - hereditary spastic paraplegia 39

MIM:

MIM:612020 - SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39

MIM:612020 - SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)