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Echinobase
Summary Literature (0)
DOID:0060490 - Schimke immuno-osseous dysplasia

Disease Ontology 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.

Synonyms: Schimke immunoosseous dysplasia, Schimke syndrome, immunoosseous dysplasia Schimke type, spondyloepiphyseal dysplasia - nephrotic syndrome,

Echinobase Genes : smarcal1


OMIM:
MIM:242900 - immunoosseous dysplasia, schimke type

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)