Marsili syndrome

Term ID

DOID:0081075

Synonyms

• congenital analgesia
• congenital insensitivity to pain

Definition

A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (2)

References

• MIM:147430
• ORDO:653728
• UMLS_CUI:C4538468

Ontology

Human Disease   ( DOID:0081075 )