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DO Term : hereditary sensory and autonomic neuropathy type 2A [DOID:0070155] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:201300,
  • 201300,
  • HSAN2A,
  • hereditary sensory and autonomic neuropathy type IIA
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