WormBase Tree Display for DO_term: DOID:0112343
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| DOID:0112343 | Name | hereditary spastic paraplegia 82 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. | ||||
| Synonym | Exact | SPG82 | |||
| spastic paraplegia 82 autosomal recessive | |||||
| Parent | Is_a | DOID:2476 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 618770 | |
| Attribute_of | Gene_by_orthology | WBGene00016531 | |||
| WBGene00021352 |
