Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Disease ID: disease_node_16096
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:218000, ORDO:1496 |
|---|---|
| Subclassof | DOID_1289, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Andermann syndrome, Charlevoix disease, corpus callosum agenesis-neuronopathy syndrome |
| Doid Label | agenesis of the corpus callosum with peripheral neuropathy |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16096 |
| Doid Id | DOID_0090003 |
| Label | Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
| Doid Alternate Ids | DOID_0060600 |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)