Metadata | |
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ID | DOID:0070150 |
Name | hereditary sensory and autonomic neuropathy type 2B |
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. https://www.ncbi.nlm.nih.gov/pubmed/19838196, https://www.ncbi.nlm.nih.gov/pubmed/24327336 |
Xrefs | |
Synonyms |
hereditary sensory and autonomic neuropathy type IIB [EXACT] HSAN2B [EXACT] |
Parent Relationships |