MeSH Browser

MeSH Supplementary: Schimke immunoosseous dysplasia
Unique ID: C536629
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536629
Entry Term(s): Immunoosseous Dysplasia, Schimke Type; Immunoosseous dysplasia Schimke type; Schimke Immuno-Osseous Dysplasia
Registry Numbers: 0
Previous Indexing: IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)
Heading Mapped to: *Arteriosclerosis; *Nephrotic Syndrome; *Osteochondrodysplasias; *Pulmonary Embolism; *Primary Immunodeficiency Diseases
Frequency: 52
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/17

Schimke immunoosseous dysplasia MeSH Supplementary Concept Data 2025