Hereditary Spastic Paraplegia 86
Disease ID: disease_node_16624
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| Dbxref | MIM:619735 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG86, spastic paraplegia 86 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 86 |
| Doid Description | A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16624 |
| Doid Id | DOID_0112342 |
| Label | Hereditary Spastic Paraplegia 86 |
- 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)