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indifference to pain, congenital, autosomal dominant

Disease Summary
Associated Targets (1)
Tdark

1


Uniprot Description An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness.
Mondo Term and Equivalent IDs
MONDO:0007828:  indifference to pain, congenital, autosomal dominant
MESH:C564128: 
UMLS:C1840219: