Osteogenesis Imperfecta [osteogenesis imperfecta]

topical
106
Terms

fragilitas ossium congenita
Lobsteinova nemoc
osteogenesis imperfecta typ I
osteoporosis congenita
osteopsathyrosis

 

Brittle Bone Disease
Fragilitas Ossium
Lobstein Disease
Lobstein's Disease
Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta with Blue Sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I

Persistent link   https://www.medvik.cz/link/D010013
Definition

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

DUI
D010013 MeSH Browser
CUI
M0015534

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 23
CO
complications 6
DI
diagnosis 38
DG
diagnostic imaging 1
DH
diet therapy
DT
drug therapy 13
EC
economics
EM
embryology
EN
enzymology 1
EP
epidemiology 1
EH
ethnology
ET
etiology 14
GE
genetics 36
HI
history
IM
immunology
ME
metabolism 5
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 5
PP
physiopathology 6
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation 3
SU
surgery 6
TH
therapy 27
UR
urine 1
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.708 Osteochondrodysplasias 123
C05.116.099.708.017 Achondroplasia 71
C05.116.099.708.025 Acquired Hyperostosis Syndrome 21
C05.116.099.708.180 Camurati-Engelmann Syndrome 6
C05.116.099.708.195 Chondrodysplasia Punctata 6
C05.116.099.708.207 Cleidocranial Dysplasia 7
C05.116.099.708.327 Ellis-Van Creveld Syndrome 11
C05.116.099.708.338 Enchondromatosis 12
C05.116.099.708.375 Fibrous Dysplasia of Bone 47
C05.116.099.708.479 Hyperostosis, Cortical, Congenital 13
C05.116.099.708.486 Hyperostosis Frontalis Interna 3
C05.116.099.708.534 Kashin-Beck Disease
C05.116.099.708.582 Langer-Giedion Syndrome 7
C05.116.099.708.670 Osteochondroma 16
C05.116.099.708.685 Osteogenesis Imperfecta 106
C05.116.099.708.702 Osteosclerosis 38
C05.116.099.708.779 Pycnodysostosis 2
C05.116.099.708.857 Short Rib-Polydactyly Syndrome 3
C05.116.099.708.928 Slipped Capital Femoral Epiphyses 16
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 46
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome
C17 Skin and Connective Tissue Diseases 32
C17.300 Connective Tissue Diseases 281
C17.300.200 Collagen Diseases 183
C17.300.200.310 Ehlers-Danlos Syndrome 51
C17.300.200.367 Epidermolysis Bullosa Dystrophica 22
C17.300.200.425 Keloid 79
C17.300.200.495 Necrobiotic Disorders 3
C17.300.200.517 Nephritis, Hereditary 60
C17.300.200.540 Osteogenesis Imperfecta 106

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