| Metadata | |
|---|---|
| ID | DOID:14768 |
| Name | Saethre-Chotzen syndrome |
| Definition | An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. https://www.faces-cranio.org/saethre-chotzen, http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, http://www.healthline.com/galecontent/saethre-chotzen-syndrome, http://children.webmd.com/saethre-chotzen-syndrome, http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:390726000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acrocephalosyndactyly type III [RELATED] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |