Term Name: Marsili syndrome
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.
Ontology: Human Disease [DOID:0081075]   ( DOID:0081075 )

Relationships
is a type of: autosomal dominant disease syndrome