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
• NCI:C156360
• OMIM:608654
• 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 )