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bn:00059666n
Noun Concept
Categories: Articles with short description, Skeletal disorders, Pages using multiple image with auto scaled images, Abnormalities of dermal fibrous and elastic tissue, Collagen disease
EN
osteogenesis imperfecta  Bone fragility craniosynostosis proptosis hydrocephalus  Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features  brittle bone disease  Brittle bone syndrome lethal type
EN
Autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily WordNet 3.0
Definitions
Relations
Sources
EN
Autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily WordNet 3.0 & Open English WordNet
Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. Wikipedia
A group of genetic bone disorders Wikipedia Disambiguation
Osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue Wikidata
A hereditary disease characterized by brittle bones that easily fracture. Wiktionary
Disease characterized by bones that easily fracture. Wiktionary (translation)
IS A
autosomal dominant disease
rare disease
osteochondrodysplasia
HAS KIND
Bruck syndrome
Cole-Carpenter syndrome
osteoporosis-pseudoglioma syndrome
GENETIC ASSOCIATION
COL1A1
HEALTH SPECIALTY
medical genetics
WordNet 3.0 & Open English WordNet
EN
osteogenesis imperfecta
Wikipedia
EN
osteogenesis imperfecta
Wikidata
EN
osteogenesis imperfecta
Wiktionary
EN
osteogenesis imperfecta
Wikipedia Redirections
EN
Bone fragility craniosynostosis proptosis hydrocephalus, Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features, brittle bone disease, Brittle bone syndrome lethal type, brittle bones, Cole carpenter syndrome, Dwarfism bluish sclerae, Ekman-Lobstein disease, Lobstein disease, Lobstein syndrome, Maroteaux Cohen Solal Bonaventure syndrome, OI type 1, OI type 2, OI type 3, OI type 4, OI type I, OI type I-A, OI type I-B, OI type IA, OI type IB, OI type II, OI type III, OI type IV, OI type IV-A, OI type IV-B, OI type IVA, OI type IVB, Osteogenesis Imperfecta, Osteogenesis imperfecta congenita microcephaly and cataracts, Osteogenesis imperfecta retinopathy, Osteogenisis Imperfecta, Osteopetrosis tarda, Osteopsathyrosis, Van de Hoeve's syndrome, Van der Hoeve's syndrome, Vrolik's Syndrome, Vrolik disease, Vrolik Syndrome
Wikidata Alias
EN
brittle bone disease, Fragilitas ossium, Lobstein's syndrome, Osteopsathyrosis, Vrolik's disease

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