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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:Prognathism
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Accession:DOID:9003576 term browser browse the term
Definition:A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)
Synonyms:exact_synonym: prognathisms
 primary_id: MESH:D011378


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Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Stomatognathic Diseases 1366
      Jaw Diseases 382
        Jaw Abnormalities 266
          Prognathism 1
            Jorgenson Lenz Syndrome 0
            MOMES Syndrome 0
            syndromic microphthalmia 8 0
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3441
            Craniofacial Abnormalities 2766
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  Prognathism 1
                    Jorgenson Lenz Syndrome 0
                    MOMES Syndrome 0
                    syndromic microphthalmia 8 0
paths to the root