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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:SADDAN
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Accession:DOID:0111158 term browser browse the term
Definition:A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: SADDAN dysplasia;   SADDAN dysplasias;   severe achondroplasia with developmental delay and acanthosis nigricans
 primary_id: OMIM:616482
 xref: GARD:9443;   ORDO:85165

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SADDAN 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: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      SADDAN 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Skin and Connective Tissue Diseases 6322
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2149
              Dwarfism 780
                achondroplasia 51
                  SADDAN 1
paths to the root