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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:LADD syndrome
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Accession:DOID:0050331 term browser browse the term
Definition:A syndrome 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;   Levy Hollister syndrome;   lacrimoauriculodentodigital syndrome
 primary_id: MESH:C538132
 alt_id: OMIM:149730
For additional species annotation, visit the Alliance of Genome Resources.

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LADD syndrome 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: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730		 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 2:50,801,897...50,875,428
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
ClinVar Annotator: match by OMIM:149730		 OMIM
ClinVar		 PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 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 OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome		 OMIM
ClinVar		 PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 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 17207
    syndrome 8126
      LADD syndrome 3
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  syndactyly 61
                    LADD syndrome 3
paths to the root