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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 1
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Accession:DOID:0050331 term browser browse the term
Definition:A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO)
Synonyms:exact_synonym: LADD Syndrome 1;   LADD1;   Lacrimo-auriculo-dento-digital syndrome 1;   Levy Hollister syndrome
 primary_id: OMIM:149730
 alt_id: DOID:9004849


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lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISS
ISO		 OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome		 MouseDO
ClinVar		 PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar		 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... 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 21118
    syndrome 10725
      LADD syndrome 3
        lacrimoauriculodentodigital syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      musculoskeletal system disease 8217
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              dysostosis 571
                synostosis 371
                  syndactyly 146
                    LADD syndrome 3
                      lacrimoauriculodentodigital syndrome 1 3
paths to the root