Search Ontology:
Human Disease

Muenke Syndrome

Term ID
DOID:0060703
Synonyms
  • FGFR3-related craniosynostosis
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. (2)
References
Ontology
Human Disease   ( DOID:0060703 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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