A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism. 1982

I I Kaitila, and L Peltonen, and H Kuivaniemi, and A Palotie, and J Elo, and K I Kivirikko

UI MeSH Term Description Entries
D007593 Joint Instability Lack of stability of a joint or joint prosthesis. Hypermobility, Joint,Instability, Joint,Laxity, Joint,Hypermobilities, Joint,Instabilities, Joint,Joint Hypermobilities,Joint Hypermobility,Joint Instabilities,Joint Laxities,Joint Laxity,Laxities, Joint
D008249 Protein-Lysine 6-Oxidase An enzyme oxidizing peptidyl-lysyl-peptide in the presence of water & molecular oxygen to yield peptidyl-allysyl-peptide plus ammonia & hydrogen peroxide. EC 1.4.3.13. Lysyl Oxidase,Collagen Lysyl Oxidase,6-Oxidase, Protein-Lysine,Lysyl Oxidase, Collagen,Oxidase, Collagen Lysyl,Oxidase, Lysyl,Protein Lysine 6 Oxidase
D008297 Male Males
D008664 Metal Metabolism, Inborn Errors Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. Metal Metabolism, Inborn Error
D009777 Occipital Bone Part of the back and base of the CRANIUM that encloses the FORAMEN MAGNUM. Basilar Bone,Basilar Bones,Bone, Basilar,Bone, Occipital,Bones, Basilar,Bones, Occipital,Occipital Bones
D001848 Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003240 Connective Tissue Diseases A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. Connective Tissue Disease,Disease, Connective Tissue,Diseases, Connective Tissue
D003300 Copper A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. Copper-63,Copper 63
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast

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