Term Name: | hereditary sensory and autonomic neuropathy type 2A |
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Synonyms: | hereditary sensory and autonomic neuropathy type IIA, HSAN2A |
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. |
Ontology: | Human Disease [DOID:0070155] ( DOID:0070155 ) |