Muenke Syndrome

Summary

DOID:0060703 - Muenke Syndrome

Disease Ontology 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.

Synonyms: FGFR3-related craniosynostosis

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fgfr3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011274 - Muenke syndrome

MONDO:0011274 - Muenke syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), craniosynostosis (is_a)