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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 with Mental Deficiency
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Accession:DOID:9005690 term browser browse the term
Synonyms:primary_id: MESH:C565420
 alt_id: RDO:0014060
For additional species annotation, visit the Alliance of Genome Resources.



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Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Neurodevelopmental Disorders 5786
        intellectual disability 3518
          Mandibulofacial Dysostosis with Mental Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        connective tissue disease 4452
          bone disease 3125
            bone development disease 1423
              dysostosis 390
                synostosis 241
                  craniosynostosis 187
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Mandibulofacial Dysostosis with Mental Deficiency 1
paths to the root