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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:Retrognathia
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Accession:DOID:9001031 term browser browse the term
Definition:A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Synonyms:exact_synonym: Mandibular Retroposition;   Mandibular Retropositions;   Mandibular Retrusion;   Mandibular Retrusions;   Maxillary Retroposition;   Maxillary Retropositions;   Maxillary Retrusion;   Maxillary Retrusions;   Retrognathias;   Retrognathism;   Retrognathisms
 primary_id: MESH:D063173


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Retrognathia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Stomatognathic Diseases 1279
      Jaw Diseases 367
        Jaw Abnormalities 253
          Retrognathia 5
            Kasznica Carlson Coppedge Syndrome 0
            PARC Syndrome 0
            Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          Musculoskeletal Abnormalities 3206
            Craniofacial Abnormalities 2556
              Maxillofacial Abnormalities 299
                Jaw Abnormalities 253
                  Retrognathia 5
                    Kasznica Carlson Coppedge Syndrome 0
                    PARC Syndrome 0
                    Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
paths to the root