Spondyloepiphyseal dysplasia.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D006820:Hyaluronic Acid / Q000378:metabolism; D007037:Hypothyroidism / Q000175:diagnosis / Q000000981:diagnostic imaging; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000000981:diagnostic imaging; D009085:Mucopolysaccharidosis IV / Q000145:classification / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D012730:Sex Chromosomes; D013577:Syndrome
D006820:Hyaluronic Acid