Search Ontology:
Human Disease
hereditary sensory and autonomic neuropathy type 2A
- Term ID
- DOID:0070155
- Synonyms
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- 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 homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (2)
- References
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- MIM:201300
- SNOMEDCT_US_2025_09_01:860809000
- UMLS_CUI:C2752089
- Ontology
- Human Disease ( DOID:0070155 )
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Genes Involved
Zebrafish Models