Brachyolmia type 1, toledo type

MONDO:0010074

Also known as: BCYM1B, PAPS-chondroitin sulfate sulfotransferase deficiency, PAPS-chondroitin sulphate sulfotransferase deficiency, Sed, chondroitin sulfate type, Sed, chondroitin sulphate type, brachyolmia type 1, Toledo type, spondyloepiphyseal dysplasia tarda, Toledo type

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Osteochondrodysplasia (12) Autosomal recessive disease (4) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2)

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