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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:ankyloglossia
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Accession:DOID:0060604 term browser browse the term
Definition:A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO)
Synonyms:exact_synonym: Ankyloglossias;   partial ankyloglossia;   partial ankyloglossias;   tongue tie;   tongue ties
 primary_id: MESH:D000072676
 alt_id: OMIM:106280
 xref: ICD10CM:Q38.1


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ankyloglossia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISS OMIM:106280 MouseDO NCBI chr 7:51,087,059...51,221,882
Ensembl chr 7:51,088,239...51,222,446 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Ankyloglossia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		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
          ankyloglossia 3
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
                ankyloglossia 3
paths to the root