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bn:01924997n
Noun Concept
Categories: Autosomal dominant disorders, Rare diseases, Collagen disease
EN
spondyloepiphyseal dysplasia congenita  Congenital spondyloepiphyseal dysplasia  Dysplasis spondyloepiphysaria congenita  Late-onset spondyloepiphyseal dysplasia  Late Spondyloepiphyseal Dysplasia
EN
Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. Wikipedia
Definitions
Relations
Sources
EN
Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. Wikipedia
An inherited genetic bone disorder Wikipedia Disambiguation
Human disease Wikidata
IS A
rare disease
Spondyloepimetaphyseal dysplasia
spondyloepiphyseal dysplasia
GENETIC ASSOCIATION
COL2A1
HEALTH SPECIALTY
medical genetics
Wikipedia
EN
spondyloepiphyseal dysplasia congenita
Wikidata
EN
spondyloepiphyseal dysplasia congenita
Wikipedia Redirections
EN
Congenital spondyloepiphyseal dysplasia, Dysplasis spondyloepiphysaria congenita, Late-onset spondyloepiphyseal dysplasia, SED, congenital type, SED congenita, SEDc, spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia, congenital type
Wikidata Alias
EN
Congenital spondyloepiphyseal dysplasia, Late Spondyloepiphyseal Dysplasia, Sed Congenita, SEDC, Spondyloepiphyseal Dysplasia, Congenital Type, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT, Spranger-Wiedemann disease

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