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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Schwartz-Lelek syndrome 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone remodeling disease 416
              hyperostosis 43
                Schwartz-Lelek syndrome 3
paths to the root