Term:Schwartz-Lelek syndrome
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Accession:DOID:9007292 term browser browse the term
Synonyms:exact_synonym: Craniometadiaphyseal dysplasia;   Craniometaphyseal dysplasia;   Genetic craniotubular bone dysplasias and hyperostoses
 primary_id: MESH:C537519
 alt_id: RDO:0003374
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Schwartz-Lelek syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Schwartz-Lelek syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone remodeling disease 418
              hyperostosis 43
                Schwartz-Lelek syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.