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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: OMIM:602849
 xref: GARD:7097;   NCI:C84904;   ORDO:53271


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Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Muenke syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Skin and Connective Tissue Diseases 7364
        connective tissue disease 5724
          bone disease 4226
            bone development disease 2299
              dysostosis 570
                synostosis 377
                  craniosynostosis 317
                    Muenke syndrome 1
paths to the root