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Metadata
ID DOID:0070151
Name hereditary sensory and autonomic neuropathy type 6
Definition A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.
https://www.ncbi.nlm.nih.gov/pubmed/22522446
Xrefs

ICD10CM:G60.8

OMIM:614653

ORDO:314381

Subsets

DO_rare_slim

Synonyms

hereditary sensory and autonomic neuropathy type VI [EXACT]

HSAN6 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a hereditary sensory neuropathy

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