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

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        Dwarfism 300
          achondroplasia 10
            SADDAN 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Dwarfism 300
                achondroplasia 10
                  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.