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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;   RDO:0003201
 xref: GARD:7097;   NCI:C84904;   ORDO:53271
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Muenke syndrome
ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis
OMIM
ClinVar
PMID:1908846, PMID:1956068, PMID:4078868, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8589699, PMID:8723106, PMID:8841188, PMID:8845844, PMID:8858131, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10094188, PMID:10213050, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:10861678, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11424131, PMID:11529856, PMID:11746040, PMID:11879084, PMID:12707965, PMID:12833394, PMID:14613973, PMID:15241680, PMID:15772091, PMID:15915095, PMID:16501574, PMID:16841094, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:18583390, PMID:18642369, PMID:19098178, PMID:19215249, PMID:19381019, PMID:19449410, PMID:19749790, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25157968, PMID:25356217, PMID:25606676, PMID:25741868, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26619011, PMID:26740388, PMID:26818779, PMID:28492532, PMID:30311386, PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Muenke syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Muenke syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.