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Statements

Subject Item

_:vb50938927

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n5:ECO_0007646 n5:ECO_0007645 n5:ECO_0007637

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/10653321 url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1376/