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Disease Ontology Browser
Muenke Syndrome (DOID:0060703)
Synonyms: FGFR3-related craniosynostosis
Alt IDs: OMIM:602849, ICD10CM:Q87.0, MESH:C537369, ORDO:53271, UMLS_CUI:C1864436
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory