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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:Malocclusion, Angle Class III
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Accession:DOID:9007478 term browser browse the term
Definition:Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).
Synonyms:exact_synonym: Angle Class III;   Habsburg Jaw;   Hapsburg Jaw;   Underbite;   mandibular prognathism
 primary_id: MESH:D008313
 alt_id: OMIM:176700


show annotations for term's descendants           Sort by:
Malocclusion, Angle Class III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,362...23,788,678
Ensembl chr 7:23,780,362...23,788,678 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar NCBI chr 3:87,362,166...87,389,814
Ensembl chr 3:87,355,904...87,389,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    Stomatognathic Diseases 1294
      tooth disease 428
        Malocclusion 8
          Malocclusion, Angle Class III 4
Path 2
Term Annotations click to browse term
  disease 15278
    Pathological Conditions, Signs and Symptoms 11851
      Signs and Symptoms 9805
        Neurologic Manifestations 9491
          sensory system disease 6601
            mouth disease 977
              tooth disease 428
                Malocclusion 8
                  Malocclusion, Angle Class III 4
paths to the root