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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:Macroglossia
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Accession:DOID:9007817 term browser browse the term
Definition:The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
Synonyms:exact_synonym: Macroglossias
 primary_id: MESH:D008260
 xref: NCI:C84832

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Macroglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chrNW_004624786:1,920,037...2,054,795
Ensembl chrNW_004624786:1,968,991...2,045,948 		JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Giant tongue ClinVar PMID:25741868 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    Stomatognathic Diseases 1250
      mouth disease 935
        tongue disease 74
          Macroglossia 2
            Congenital Macroglossia 1
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      nervous system disease 12195
        Neurologic Manifestations 9072
          sensory system disease 6425
            mouth disease 935
              tongue disease 74
                Macroglossia 2
                  Congenital Macroglossia 1
paths to the root