OBO ID: DOID:0070145
Term Name: hereditary sensory and autonomic neuropathy type 5 Search Ontology:
Synonyms:
  • hereditary sensory and autonomic neuropathy type V
  • HSAN5
Definition: A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (2)
References:
  • GARD:12328
  • MESH:D000699
  • MESH:D009477
  • NCI:C156360
  • OMIM:608654
  • ORDO:608654
  • SNOMEDCT_US_2019_09_01:128206006
  • SNOMEDCT_US_2019_09_01:403605007
  • UMLS_CUI:C0002768
  • UMLS_CUI:C0020075
Ontology: Human Disease   (DOID:0070145)
OTHER hereditary sensory and autonomic neuropathy type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NGF Neuropathy, hereditary sensory and autonomic, type V 608654
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None