Schimke immunoosseous dysplasia [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by growth and skeletal abnormalities, hyperpigmented skin areas, kidney disease, and immune deficiency; arteriosclerosis may also occur in some cases. Mutations in the SMARCAL1 gene have been identified. OMIM: 242900
Date introduced: August 25, 2010
MeSH Unique ID: C536629
Heading Mapped to:
Entry Terms:
- Immunoosseous dysplasia Schimke type
- Immunoosseous Dysplasia, Schimke Type
- Schimke Immuno-Osseous Dysplasia
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