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Marsili syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0081075
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
