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Metadata
ID 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

SNOMEDCT_US_2019_09_01:723995003

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]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

is_a autosomal recessive disease

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