Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect.
D001706:Biopsy; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002356:Cartilage / Q000032:analysis / Q000473:pathology*; D002594:Cetylpyridinium; D002648:Child; D002807:Chondroitin / Q000032:analysis; D003094:Collagen; D004392:Dwarfism / Q000473:pathology; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005260:Female; D006025:Glycosaminoglycans / Q000032:analysis; D006595:Hexosamines / Q000032:analysis; D006801:Humans; D006909:Hydroxyproline / Q000032:analysis; D007085:Ilium / Q000032:analysis / Q000473:pathology*; D008854:Microscopy, Electron; D010006:Osteoblasts / Q000166:cytology; D010011:Osteocytes / Q000166:cytology; D011506:Proteins / Q000378:metabolism; D014457:Ulna / Q000473:pathology
D006025:Glycosaminoglycans; D006595:Hexosamines; D011506:Proteins; D002807:Chondroitin; D003094:Collagen; D002594:Cetylpyridinium; D006909:Hydroxyproline