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Metadata
ID DOID:0070157
Name hereditary sensory and autonomic neuropathy type 1C
Definition A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
https://www.ncbi.nlm.nih.gov/pubmed/20920666
Xrefs

OMIM:613640

Synonyms

hereditary sensory and autonomic neuropathy type IC [EXACT]

HSAN1C [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 1

is_a autosomal dominant disease

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