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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: EFTUD2-RELATED CONDITION;   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



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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 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 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 21128
    syndrome 10832
      mandibulofacial dysostosis, Guion-Almeida type 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  craniosynostosis 315
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        mandibulofacial dysostosis, Guion-Almeida type 1
paths to the root