Metadata | |
---|---|
ID | DOID:0061011 |
Name | craniosynostosis 3 |
Definition | A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/23438589/ |
Xrefs | |
Synonyms |
CRS3 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a craniosynostosis |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |