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Metadata
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

OMIM:613115

Synonyms

hereditary sensory and autonomic neuropathy type IIB [EXACT]

HSAN2B [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 2

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