Search Ontology:
Human Disease

hereditary sensory and autonomic neuropathy type 5

Term ID
DOID:0070145
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
  • MIM:608654
  • NCI:C156360
  • ORDO:608654
  • SNOMEDCT_US_2023_03_01:128206006
  • SNOMEDCT_US_2023_03_01:403605007
  • UMLS_CUI:C0002768
  • UMLS_CUI:C0020075
Ontology
Human Disease   ( DOID:0070145 )
Relationships
is a type of
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Genes Involved
Zebrafish Models