Neuropathy, hereditary sensory and autonomic, 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.

Also known as HSAN1C — per MONDO

Also identified as

• DOID 0070157 per MONDO
• OMIM 613640 per MONDO
• UMLS C3150896 per MONDO