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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 3
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Accession:DOID:0081372 term browser browse the term
Definition:A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)
Synonyms:exact_synonym: LADD Syndrome 3;   LADD3;   Lacrimo-auriculo-dento-digital syndrome 3
 primary_id: OMIM:620193
 alt_id: DOID:9008206


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lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      LADD syndrome 3
        lacrimoauriculodentodigital syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    LADD syndrome 3
                      lacrimoauriculodentodigital syndrome 3 1
paths to the root