Metadata | |
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ID | DOID:0070155 |
Name | hereditary sensory and autonomic neuropathy type 2A |
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. https://www.ncbi.nlm.nih.gov/pubmed/14152533, https://www.ncbi.nlm.nih.gov/pubmed/15060842 |
Xrefs | |
Synonyms |
hereditary sensory and autonomic neuropathy type IIA [EXACT] HSAN2A [EXACT] |
Parent Relationships |