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Schimke immuno-osseous dysplasia
Summary
- Synonym
-
- Schimke immunoosseous dysplasia
- Schimke syndrome
- immunoosseous dysplasia Schimke type
- spondyloepiphyseal dysplasia - nephrotic syndrome
- 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.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0060490
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P17900 | Ganglioside GM2 activator |
