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Human Disease
hereditary spastic paraplegia 39
- Term ID
- DOID:0110790
- Synonyms
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- 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
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- GARD:4924
- ICD10CM:G11.4
- MIM:612020
- ORDO:139480
- Ontology
- Human Disease ( DOID:0110790 )
- is a type of
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