Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:mandibulofacial dysostosis, Guion-Almeida type
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28708303, PMID:22305528 RGD:10045557 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      mandibulofacial dysostosis, Guion-Almeida type 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        mandibulofacial dysostosis, Guion-Almeida type 1
paths to the root

NHLBI Logo

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