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ONTOLOGY REPORT - ANNOTATIONS


Term:Schimke immuno-osseous dysplasia
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Accession:DOID:0060490 term browser browse the term
Definition:A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)
Synonyms:exact_synonym: SIOD;   Schimke immunoosseous dysplasia;   Schimke syndrome;   immunoosseous dysplasia Schimke type;   spondyloepiphyseal dysplasia - nephrotic syndrome
 primary_id: MESH:C536629
 alt_id: OMIM:242900;   RDO:0002264
 xref: GARD:4984;   NCI:C135087;   ORDO:1830
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Schimke immuno-osseous dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 JBrowse link 9 79,943,775 79,990,230 RGD:1599053
RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        Schimke immuno-osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        urinary system disease 2036
          kidney disease 1824
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  Schimke immuno-osseous dysplasia 1
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