| 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. https://www.ncbi.nlm.nih.gov/pubmed/10653321, http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK1376/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:723995003 |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |