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Entry Name Description Category Pathway Gene
H00580 Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive ... Congenital malformation SMARCAL1 [HSA:50485] [KO:K14440]
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