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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: GARD:4984;   NCI:C135087;   ORDO:1830


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Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      nephrotic syndrome 172
        Schimke immuno-osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            proteinuria 586
              nephrosis 290
                nephrotic syndrome 172
                  Schimke immuno-osseous dysplasia 1
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