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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:Congenital Macroglossia
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Accession:DOID:9005078 term browser browse the term
Synonyms:exact_synonym: Enlarged tongue;   Giant tongue
 primary_id: MESH:C531735
 alt_id: OMIM:153630


show annotations for term's descendants           Sort by:
Congenital Macroglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Giant tongue ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Giant tongue ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Stomatognathic Diseases 1348
      mouth disease 1019
        tongue disease 94
          Macroglossia 3
            Congenital Macroglossia 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            mouth disease 1019
              tongue disease 94
                Macroglossia 3
                  Congenital Macroglossia 2
paths to the root