Metadata | |
---|---|
ID | DOID:0081075 |
Name | Marsili syndrome |
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. https://pubmed.ncbi.nlm.nih.gov/29253101/ |
Xrefs | |
Synonyms |
congenital analgesia [EXACT] congenital insensitivity to pain [EXACT] |
Parent Relationships |
is_a syndrome |