ZFIN Human Disease: hereditary spastic paraplegia 39

OBO ID: DOID:0110790

Term Name:	hereditary spastic paraplegia 39		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 NTE-related motor neuron disorder NTEMND spastic paraplegia due to neuropathy target esterase mutation spastic paraplegia due to NTE mutation SPG39
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
References:	GARD:4924 ICD10CM:G11.4 OMIM:612020 ORDO:139480
Ontology:	Human Disease ( DOID:0110790 )

Relationships

is a type of:	autosomal recessive disease hereditary spastic paraplegia autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

OTHER hereditary spastic paraplegia 39 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PNPLA6	pnpla6	Spastic paraplegia 39, autosomal recessive	612020

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None