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Schimke immuno-osseous dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Uniprot Description An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009458:  Schimke immuno-osseous dysplasia
GARD:0004984: 
MESH:C536629: 
NCIT:C135087: 
Orphanet:1830: 
SCTID:723995003: 
UMLS:C0877024: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)