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Echinobase
Summary Literature (0)
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,

Echinobase Genes : fgfr3


OMIM:
MIM:602849 - muenke syndrome; mnkes

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): craniosynostosis (is_a)