Concept information
...
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Disease of the musculoskeletal system, NOS
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
...
Congenital malformation
Congenital anomaly of musculoskeletal system
Skeletal dysplasia
Spondyloepiphyseal dysplasia congenita
Preferred term
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Associated morphology
Finding site
Is a
- 363070008
- 363212003
- Dominant hereditary disorder, NOS
- Spondyloepiphyseal dysplasia congenita
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/715670004
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