ONTOLOGY REPORT - ANNOTATIONS


Term:mandibulofacial dysostosis, Guion-Almeida type
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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
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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

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Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        intellectual disability 1158
          mandibulofacial dysostosis, Guion-Almeida type 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        mandibulofacial dysostosis, Guion-Almeida type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.