| Metadata | |
|---|---|
| ID | DOID:0060703 |
| Name | Muenke Syndrome |
| Definition | A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. https://www.ncbi.nlm.nih.gov/pubmed/9042914, https://www.ncbi.nlm.nih.gov/pubmed/18000976 |
| Xrefs |
SNOMEDCT_US_2023_03_01:440350001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
FGFR3-related craniosynostosis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a craniosynostosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |