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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, sub-family C member 8 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
OMIM
CTD
ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    Stomatognathic Diseases 1324
      Jaw Diseases 372
        Jaw Abnormalities 262
          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 18296
    Developmental Disease 17904
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17775
        Congenital Abnormalities 7538
          Musculoskeletal Abnormalities 3327
            Craniofacial Abnormalities 2679
              Maxillofacial Abnormalities 308
                Jaw Abnormalities 262
                  Retrognathia 5
                    Kasznica Carlson Coppedge Syndrome 0
                    PARC Syndrome 0
                    Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
paths to the root