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ONTOLOGY REPORT - ANNOTATIONS


Term:SADDAN
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Accession:DOID:0111158 term browser browse the term
Definition:An autosomal dominant disease 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;   SADDANs;   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 JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        Dwarfism 308
          achondroplasia 11
            SADDAN 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                achondroplasia 11
                  SADDAN 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.