WormBase Tree Display for DO_term: DOID:0112342
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| DOID:0112342 | Name | hereditary spastic paraplegia 86 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | SPG86 | |||
| spastic paraplegia 86 autosomal recessive | |||||
| Parent | Is_a | DOID:2476 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 619735 | |
| Attribute_of | Gene_by_orthology | WBGene00018131 |
