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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:Lingual Thyroids
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Accession:DOID:9000704 term browser browse the term
Definition:A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM.
Synonyms:exact_synonym: lingual thyroid
 primary_id: MESH:D046151
 xref: EFO:1001803


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Lingual Thyroids term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Lingual thyroid ClinVar PMID:32989326 NCBI chr 8:26,959,697...27,034,190
Ensembl chr 8:26,959,749...27,120,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7453
          thyroid malformation 3
            Lingual Thyroids 1
              lingual goiter 0
paths to the root