Search Ontology:
Human Disease

hereditary sensory and autonomic neuropathy type 1C

Term ID
DOID:0070157
Synonyms
  • hereditary sensory and autonomic neuropathy type IC
  • hereditary sensory neuropathy type 1C
  • hereditary sensory neuropathy type IC
  • HSAN1C
  • HSN1C
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
References
  • MIM:613640
  • SNOMEDCT_US_2025_09_01:860814001
  • UMLS_CUI:C3150896
Ontology
Human Disease   ( DOID:0070157 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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