| Metadata | |
|---|---|
| ID | DOID:0081075 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081075 Copy |
| 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/, https://www.ncbi.nlm.nih.gov/books/NBK481553/ |
| Xrefs | |
| SKOS |
exactMatch MIM:147430 exactMatch UMLS_CUI:C4538468 exactMatch ORDO:653728 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has feature some pain agnosia |