Ehlers-Danlos syndrome, spondylodysplastic type, 1

MONDO:0020682

Also known as: EDSSPD1, Ehlers-Danlos syndrome with Short stature and Limb anomalies, Ehlers-Danlos syndrome, progeroid type 1, Ehlers-Danlos syndrome, progeroid type, 1, Ehlers-Danlos syndrome, spondylodysplastic type, 1, PDS, defective biosynthesis of, XGPT deficiency, dermatan sulfate proteoglycan

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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Inborn errors of metabolism (45) Osteogenesis imperfecta (34) Syndromic disease (25) Ehlers-Danlos syndrome (20) Human disease (14)

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