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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Muenke syndrome
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Accession:DOID:0060703 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FGFR3-associated coronal synostosis;   FGFR3-related craniosynostosis;   MNKES;   Muenke nonsyndromic coronal craniosynostosis;   syndrome of coronal craniosynostosis
 primary_id: MESH:C537369
 alt_id: MIM:602849
 xref: GARD:7097;   NCI:C84904;   ORDO:53271



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Muenke syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:602849
ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis
OMIM
CTD
MouseDO
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Muenke syndrome 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      Skin and Connective Tissue Diseases 7690
        connective tissue disease 5941
          bone disease 4396
            bone development disease 2366
              dysostosis 630
                synostosis 396
                  craniosynostosis 332
                    Muenke syndrome 1
paths to the root