Osteochondrodysplasias

Abnormal development of cartilage and bone.

Also Known As:

Spondyloepiphyseal Dysplasia; Osteochondrodysplasia; Melnick Needles Syndrome; Hyperostosis Corticalis Generalisata; Dyschondroplasia; Dysplasia, Spondyloepiphyseal; Multiple Epiphyseal Dysplasia; Chondrodystrophic Myotonia; Endosteal Hyperostosis, Autosomal Recessive; Hyperphosphatasemia Tarda; Late-Onset Spondyloepiphyseal Dysplasia; Melnick-Needles Osteodysplasty; Myotonic Chondrodystrophy; Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities; Osteodysplasty of Melnick and Needles; SED Tarda; SJA Syndrome; Schwartz Jampel Aberfeld syndrome; Schwartz-Jampel Syndrome, Type 1; Schwartz-Jampel-Aberfeld Syndrome; Sost Sclerosing Bone Dysplasia; Sost-Related Sclerosing Bone Dysplasia; Spondylo-Epimetaphyseal Dysplasia With Myotonia; Spondyloepiphyseal Dysplasia Tarda, X-Linked; Spondyloepiphyseal Dysplasia, Late; Van Buchem Disease; X-Linked SED; X-Linked SEDT; X-Linked Spondyloepiphyseal Dysplasia Tarda; Chondrodystrophy, Myotonic; Late Onset Spondyloepiphyseal Dysplasia; Late Spondyloepiphyseal Dysplasia; Melnick Needles Osteodysplasty; Myotonia, Chondrodystrophic; Osteodysplasty, Melnick-Needles; SED, X-Linked; SEDT, X-Linked; Schwartz Jampel Syndrome; Schwartz Jampel Syndrome, Type 1; Spondyloepiphyseal Dysplasia Tarda, X Linked; Spondyloepiphyseal Dysplasia, Late-Onset; Syndrome, Schwartz-Jampel-Aberfeld; X Linked SED; X Linked SEDT; X Linked Spondyloepiphyseal Dysplasia Tarda; Dyschondroplasias; Melnick-Needles Syndrome; Schwartz-Jampel Syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592

Autosomal Recessive 5 Osteopetrosis

Disease Context: Research Results