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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:lacrimoauriculodentodigital syndrome 2
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Accession:DOID:0081371 term browser browse the term
Definition:A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. (DO)
Synonyms:exact_synonym: LADD Syndrome 2;   LADD2;   Lacrimo-auriculo-dento-digital syndrome 2
 primary_id: MIM:620192
 alt_id: DOID:9002835


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lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 PMID:16501574 PMID:28483234 PMID:28492532 PMID:32715658 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      LADD syndrome 3
        lacrimoauriculodentodigital syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              dysostosis 630
                synostosis 396
                  syndactyly 150
                    LADD syndrome 3
                      lacrimoauriculodentodigital syndrome 2 1
paths to the root