Hereditary Spastic Paraplegia 39
Disease ID: disease_node_16689
Connections displayed (default: 10).
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| Dbxref | GARD:4924, ICD10CM:G11.4, MIM:612020, ORDO:139480 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NTE-related motor neuron disorder, NTEMND, SPG39, autosomal recessive spastic paraplegia 39, autosomal recessive spastic paraplegia type 39, spastic paraplegia due to NTE mutation, spastic paraplegia due to neuropathy target esterase mutation |
| Doid Label | hereditary spastic paraplegia 39 |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16689 |
| Doid Id | DOID_0110790 |
| Label | Hereditary Spastic Paraplegia 39 |
- Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)