Metadata | |
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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 | |
Synonyms |
hereditary sensory and autonomic neuropathy type IC [EXACT] HSAN1C [EXACT] |
Parent Relationships |