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| Term | Schimke immuno-osseous dysplasia | ID (Ontology) | DOID:0060490 (Human Disease) | |||||||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||||||
| Also Known As | "immunoosseous dysplasia Schimke type" ; "Schimke immunoosseous dysplasia" ; "Schimke syndrome" (for all, see Synonyms field below) | |||||||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_______ spinal disease | |__spondyloepimetaphyseal dysplasia__| osteochondrodysplasia | |__spondyloepimetaphyseal dysplasia__| Schimke immuno-osseous dysplasia 49 rec. |
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| Is a |
autosomal recessive disease spondyloepimetaphyseal dysplasia |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:4984 MESH:C536629 MIM:242900 NCI:C135087 ORDO:1830 SNOMEDCT_US_2023_03_01:723995003 UMLS_CUI:C0877024 |
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