WormBase Tree Display for DO_term: DOID:0060490
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| DOID:0060490 | Name | Schimke immuno-osseous dysplasia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | Schimke immunoosseous dysplasia | |||
| Schimke syndrome | |||||
| immunoosseous dysplasia Schimke type | |||||
| spondyloepiphyseal dysplasia - nephrotic syndrome | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080027 | |||||
| DB_info | Database | OMIM | disease | 242900 | |
| Attribute_of | Gene_by_orthology | WBGene00015806 |
