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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:acrofacial dysostosis Cincinnati type
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Accession:DOID:0060353 term browser browse the term
Definition:An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: AFDCIN;   Cincinnati type of acrofacial dysostosis
 primary_id: OMIM:616462
For additional species annotation, visit the Alliance of Genome Resources.


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acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      bone development disease 1413
        dysostosis 393
          acrofacial dysostosis 4
            acrofacial dysostosis Cincinnati type 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              dysostosis 393
                synostosis 241
                  craniosynostosis 186
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        acrofacial dysostosis Cincinnati type 1
paths to the root