WormBase Tree Display for DO_term: DOID:0060703
expand all nodes | collapse all nodes | view schema
| DOID:0060703 | Name | Muenke Syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | FGFR3-related craniosynostosis | |||
| Parent | Is_a | DOID:2340 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 602849 | |
| Attribute_of | Gene_by_orthology | WBGene00001184 |
