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

ONTOLOGY REPORT - ANNOTATIONS


Term:mandibulofacial dysostosis, Guion-Almeida type
go back to main search page
Accession:DOID:0080196 term browser browse the term
Definition:An autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)
Synonyms:exact_synonym: Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate;   MFDGA;   MFDM
 related_synonym: mandibulofacial dysostosis with microcephaly
 primary_id: MESH:C537405;   RDO:0003245
 alt_id: OMIM:610536
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:7240710
RGD:8554872
RGD:10045557

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Neurodevelopmental Disorders 4067
        intellectual disability 1703
          mandibulofacial dysostosis, Guion-Almeida type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    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.