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Metadata
DOID DOID:0060490
Name Schimke immuno-osseous dysplasia
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.
http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK1376/, https://www.ncbi.nlm.nih.gov/pubmed/10653321
Xrefs

GARD:4984

MESH:C536629

NCI:C135087

OMIM:242900

ORDO:1830

UMLS_CUI:C0877024

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

immunoosseous dysplasia Schimke type [EXACT]

Schimke immunoosseous dysplasia [EXACT]

Schimke syndrome [EXACT]

spondyloepiphyseal dysplasia - nephrotic syndrome [EXACT]

Relationships

is_a spondyloepimetaphyseal dysplasia

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