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Metadata
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

OMIM:201300

Synonyms

hereditary sensory and autonomic neuropathy type IIA [EXACT]

HSAN2A [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 2

is_a autosomal recessive disease

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