| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has feature some pain agnosia |