hereditary sensory neuropathy type 4

Term ID

DOID:0070146

Synonyms

• hereditary sensory neuropathy type IV
• insensitivity to pain, congenital, with anhidrosis

Definition

A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (2)

References

• GARD:3006
• MESH:D009477
• NCI:C118633
• OMIM:256800
• ORDO:642
• SNOMEDCT_US_2023_03_01:62985007
• UMLS_CUI:C0020074

Ontology

Human Disease   ( DOID:0070146 )