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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 PMID:15579991 PMID:16682602 PMID:18854780 PMID:19074458 PMID:23419329 PMID:25283059 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          Mandibulofacial Dysostosis with Mental Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                synostosis 228
                  craniosynostosis 175
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Mandibulofacial Dysostosis with Mental Deficiency 1
paths to the root