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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:mandibulofacial dysostosis, Guion-Almeida type
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Accession:DOID:0080196 term browser browse the term
Definition:A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)
Synonyms:exact_synonym: MFDGA;   MFDM;   MFDM syndrome;   growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate;   mandibulofacial dysostosis-microcephaly syndrome
 related_synonym: mandibulofacial dysostosis with microcephaly
 primary_id: MESH:C537405
 alt_id: OMIM:610536
 xref: GARD:10056;   ORDO:79113
For additional species annotation, visit the Alliance of Genome Resources.



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mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
OMIM
ClinVar
PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 More... RGD:10045557 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      mandibulofacial dysostosis, Guion-Almeida type 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
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        mandibulofacial dysostosis, Guion-Almeida type 1
paths to the root