WormBase Tree Display for DO_term: DOID:0081376
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| DOID:0081376 | Name | sorbitol dehydrogenase deficiency with peripheral neuropathy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. | ||||
| Synonym | Exact | SORDD | |||
| Parent | Is_a | DOID:440 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 618912 | |
| Attribute_of | Gene_by_orthology | WBGene00011003 | |||
| WBGene00011004 |
