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



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Schimke immuno-osseous dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:16199547 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      nephrotic syndrome 149
        Schimke immuno-osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            proteinuria 553
              nephrosis 269
                nephrotic syndrome 149
                  Schimke immuno-osseous dysplasia 1
paths to the root