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DO Term : hereditary spastic paraplegia 39 [DOID:0110790] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
612020,
OMIM:612020,
NTEMND,
GARD:4924,
spastic paraplegia due to NTE mutation,
autosomal recessive spastic paraplegia type 39,
autosomal recessive spastic paraplegia 39,
NTE-related motor neuron disorder,
spastic paraplegia due to neuropathy target esterase mutation,
ORDO:139480,
SPG39,
ICD10CM:G11.4

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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