| 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/15060842, https://www.ncbi.nlm.nih.gov/pubmed/14152533 |
| Xrefs | |
| Synonyms |
hereditary sensory and autonomic neuropathy type IIA [EXACT] HSAN2A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |