FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Muenke Syndrome ID (Ontology) DOID:0060703 (Human Disease)
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.
Also Known As "FGFR3-related craniosynostosis"
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 Genes
 Muenke Syndrome       1
 for disease ribbon | Muenke Syndrome       1
 model of | Muenke Syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
synostosis                      |
 |__craniosynostosis____________|
                                Muenke Syndrome  1 rec.
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Is a autosomal dominant disease
craniosynostosis
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Synonyms
  • "FGFR3-related craniosynostosis" EXACT
Secondary IDs
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GARD:7097
MESH:C537369
MIM:602849
NCI:C84904
ORDO:53271
SNOMEDCT_US_2023_03_01:440350001
UMLS_CUI:C1864436