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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;   RDO:0002264
 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
PMID:11799392, PMID:15523612, PMID:15880370, PMID:16237566, PMID:16840568, PMID:17089404, PMID:18805831, PMID:18974355, PMID:19127206, PMID:19793864, PMID:20301550, PMID:21914180, PMID:22998683, PMID:23671665, PMID:24589093, PMID:25741868, PMID:25748404, PMID:26089390, PMID:26195148, PMID:26499378, PMID:28492532, PMID:28780565, PMID:28796785, PMID:29802247, PMID:30026777, PMID:30311386, PMID:30784191, PMID:11799392 RGD:1599053 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        Schimke immuno-osseous dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                spondyloepimetaphyseal dysplasia 75
                  Schimke immuno-osseous dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.