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MIRAGE
hereditary sensory and autonomic neuropathy type 2B
Summary
- Synonym
-
- HSAN2B
- hereditary sensory and autonomic neuropathy type IIB
- 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 FAM134B gene on chromosome 5p15.
- Super Class
- autosomal recessive disease hereditary sensory and autonomic neuropathy type 2
External Links
- Disease Ontology
- DOID:0070150
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6L5 | Reticulophagy regulator 1 |
