Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   RDO:0003201
 xref: GARD:7097;   NCI:C84904;   ORDO:53271
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Muenke syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Skin and Connective Tissue Diseases 5812
        connective tissue disease 4421
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Muenke syndrome 1
paths to the root