OBO ID: DOID:0060703
Term Name: Muenke Syndrome Search Ontology:
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 Muenke Syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR3 Muenke syndrome 602849
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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