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hereditary sensory and autonomic neuropathy type 2A
Summary
- Synonym
-
- HSAN2A
- hereditary sensory and autonomic neuropathy type IIA
- Definition
- A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
- Super Class
- autosomal recessive disease hereditary sensory and autonomic neuropathy type 2
External Links
- Disease Ontology
- DOID:0070155
- Mondo Disease Ontology
- OMIM
Related Genes
