WormBase Tree Display for DO_term: DOID:0090003
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| DOID:0090003 | Name | agenesis of the corpus callosum with peripheral neuropathy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Alternate_id | DOID:0060600 | ||||
| Definition | A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. | ||||
| Synonym | Exact | Andermann syndrome | |||
| Charlevoix disease | |||||
| corpus callosum agenesis-neuronopathy syndrome | |||||
| Parent | Is_a | DOID:1289 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 218000 | |
| Attribute_of | Gene_by_orthology | WBGene00019205 |
