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Human Disease
hereditary sensory and autonomic neuropathy type 2B
- Term ID
- DOID:0070150
- Synonyms
-
- hereditary sensory and autonomic neuropathy type IIB
- HSAN2B
- Definition
- A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15. (2)
- References
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- MESH:C567738
- MIM:613115
- SNOMEDCT_US_2025_09_01:860810005
- UMLS_CUI:C2751092
- Ontology
- Human Disease ( DOID:0070150 )
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Genes Involved
Zebrafish Models