MCID: BRT054
MIFTS: 69

Brittle Bone Disorder

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brittle Bone Disorder

MalaCards integrated aliases for Brittle Bone Disorder:

Name: Brittle Bone Disorder 57 73
Osteogenesis Imperfecta 12 76 53 25 59 37 29 55 6 43 44 15 40 73
Brittle Bone Disease 12 76 53 25 59
Fragilitas Ossium 12 53 25
Osteopsathyrosis 12 53 59
Lobstein Disease 76 53 59
Oi 53 25 59
Porak and Durante Disease 53 59
Vrolik Disease 53 25
Osteogenesis Imperfecta, Recessive Perinatal Lethal 73
Osteogenesis Imperfecta, Dominant Perinatal Lethal 73
Lobstein's Syndrome 12
Glass Bone Disease 59
Lobstein's Disease 73
Vrolik's Disease 12

Characteristics:

Orphanet epidemiological data:

59
osteogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (France),1-9/100000 (Finland),1-9/1000000 (Latin America),1-9/100000 (Ireland),1-9/100000 (United States),1-9/100000 (Sweden); Age of onset: All ages;

Classifications:



Summaries for Brittle Bone Disorder

MedlinePlus : 43 Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to high bone mass osteogenesis imperfecta and osteogenesis imperfecta, type viii, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Brittle Bone Disorder is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are macrocephaly and pectus excavatum

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue.

Genetics Home Reference : 25 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

NIH Rare Diseases : 53 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.

Wikipedia : 76 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... more...

Description from OMIM: 603828

Related Diseases for Brittle Bone Disorder

Diseases related to Brittle Bone Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 high bone mass osteogenesis imperfecta 34.8 COL1A1 COL1A2
2 osteogenesis imperfecta, type viii 34.5 COL1A1 COL1A2 CRTAP P3H1
3 osteogenesis imperfecta, type xi 34.5 CRTAP FKBP10
4 ehlers-danlos/osteogenesis imperfecta syndrome 34.5 COL1A1 COL1A2
5 osteogenesis imperfecta, type vii 33.7 CD36 COL1A1 COL1A2 CRTAP PTH1R
6 osteogenesis imperfecta, type v 33.6 CD36 COL1A1 COL1A2 IBSP IFITM5
7 osteogenesis imperfecta, type i 33.2 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
8 osteoporosis, juvenile 32.9 BGLAP COL1A1
9 dentin dysplasia, type ii 32.7 DSPP IBSP
10 coxa vara 32.1 COL2A1 CRTAP
11 osteogenesis imperfecta, type ii 31.6 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
12 dentinogenesis imperfecta 31.4 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5
13 ehlers-danlos syndrome 31.1 COL1A1 COL1A2 COL3A1
14 osteogenesis imperfecta, type iii 31.0 BGLAP CD36 COL1A1 COL1A2 CRTAP FKBP10
15 otosclerosis 30.8 CD36 COL1A1 COL1A2
16 fibrous dysplasia 30.7 BGLAP IBSP SPARC
17 marfan syndrome 30.4 COL1A2 COL3A1 DCN
18 osteogenesis imperfecta, type vi 30.4 COL1A1 CRTAP FKBP10 IBSP IFITM5 P3H1
19 osteogenesis imperfecta, type iv 30.3 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
20 connective tissue disease 30.3 COL1A1 COL1A2 COL3A1 IBSP P3H1 PPIB
21 scoliosis 30.0 COL1A1 COL1A2 COL2A1 FGFR3
22 skeletal dysplasias 29.9 COL2A1 FGFR3 PTH1R
23 bruck syndrome 29.8 CD36 COL1A1 COL1A2 CRTAP FKBP10 IFITM5
24 bone disease 29.7 BGLAP CD36 COL1A1 COL2A1 FGFR3 IBSP
25 osteochondrodysplasia 29.2 BGLAP COL2A1 FGFR3 PTH1R
26 osteoporosis 28.8 BGLAP CD36 COL1A1 COL1A2 COL2A1 IBSP
27 osteogenesis imperfecta, type ix 12.7
28 osteogenesis imperfecta, type x 12.7
29 osteogenesis imperfecta, type xiv 12.6
30 osteogenesis imperfecta, type xv 12.6
31 osteogenesis imperfecta, type xii 12.6
32 osteogenesis imperfecta, type xiii 12.6
33 osteogenesis imperfecta, type xvii 12.6
34 osteogenesis imperfecta, type xvi 12.5
35 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures 12.4
36 osteogenesis imperfecta, type xviii 12.3
37 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.2
38 col1a1/2-related osteogenesis imperfecta 12.2
39 osteogenesis imperfecta levin type 12.1
40 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 12.0
41 dentinogenesis imperfecta 1 11.8
42 osteoporosis-pseudoglioma syndrome 11.7
43 bruck syndrome 2 11.7
44 bruck syndrome 1 11.6
45 al gazali sabrinathan nair syndrome 11.6
46 cole-carpenter syndrome 11.6
47 gnathodiaphyseal dysplasia 11.4
48 gracile bone dysplasia 11.4
49 bone fracture 11.4
50 dentinogenesis imperfecta type 2 11.0

Graphical network of the top 20 diseases related to Brittle Bone Disorder:



Diseases related to Brittle Bone Disorder

Symptoms & Phenotypes for Brittle Bone Disorder

Clinical features from OMIM:

603828

Human phenotypes related to Brittle Bone Disorder:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
5 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
9 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
12 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
13 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
14 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
15 abnormal cortical bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0003103
16 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
17 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
18 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
19 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
20 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
21 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
22 dentinogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000703
23 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
24 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
25 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
26 wormian bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0002645
27 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
28 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
29 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
30 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
31 thin ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000883
32 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
33 visceral angiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100761
34 protrusio acetabuli 59 32 frequent (33%) Frequent (79-30%) HP:0003179
35 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
36 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
37 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
38 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
39 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
40 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
41 abnormality of dental color 59 32 hallmark (90%) Very frequent (99-80%) HP:0011073
42 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
43 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
44 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
45 slender long bone 59 32 frequent (33%) Frequent (79-30%) HP:0003100
46 biconcave vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004586
47 bowing of the long bones 59 Frequent (79-30%)
48 abnormality of the dentition 59 Very frequent (99-80%)
49 malformation of the heart and great vessels 59 Frequent (79-30%)
50 abnormal form of the vertebral bodies 59 Frequent (79-30%)

UMLS symptoms related to Brittle Bone Disorder:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Brittle Bone Disorder:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 FKBP10 IBSP P3H1 PEPD PPIB PTH1R
2 homeostasis/metabolism MP:0005376 10.27 CD36 COL1A1 COL1A2 COL2A1 COL3A1 DCN
3 craniofacial MP:0005382 10.21 COL1A1 COL2A1 DCN FGFR3 FKBP10 IBSP
4 cardiovascular system MP:0005385 10.18 CD36 COL1A1 COL1A2 COL2A1 COL3A1 FKBP10
5 immune system MP:0005387 10.13 FGFR3 IBSP PEPD PTH1R SPARC CD36
6 mortality/aging MP:0010768 10.13 CD36 COL1A1 COL1A2 COL2A1 COL3A1 DCN
7 limbs/digits/tail MP:0005371 10.11 COL1A2 COL2A1 FGFR3 FKBP10 IBSP IFITM5
8 digestive/alimentary MP:0005381 10.1 CD36 COL1A1 COL2A1 COL3A1 DCN FGFR3
9 integument MP:0010771 10.06 SPARC COL1A1 COL1A2 COL3A1 DCN FGFR3
10 adipose tissue MP:0005375 10.01 CD36 COL1A1 COL1A2 COL2A1 COL3A1 P3H1
11 muscle MP:0005369 9.86 TMEM38B CD36 COL1A1 COL1A2 COL3A1 DCN
12 skeleton MP:0005390 9.8 CD36 COL1A1 COL1A2 COL2A1 CRTAP DCN
13 respiratory system MP:0005388 9.7 COL1A1 COL2A1 COL3A1 DCN FGFR3 PTH1R
14 vision/eye MP:0005391 9.17 CD36 COL1A1 COL2A1 DCN FGFR3 PTH1R

Drugs & Therapeutics for Brittle Bone Disorder

Drugs for Brittle Bone Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
2
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Not Applicable 40391-99-9 4674
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
7 Diphosphonates Phase 4,Phase 3,Phase 2
8 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2
9 Ergocalciferols Phase 4
10 Micronutrients Phase 4
11 Trace Elements Phase 4
12 Vitamins Phase 4,Phase 2
13 Calciferol Nutraceutical Phase 4
14 Vitamin D2 Nutraceutical Phase 4
15
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
16
Etidronic acid Approved Phase 3,Phase 2 7414-83-7, 2809-21-4 3305
17
Denosumab Approved Phase 3,Phase 2 615258-40-7
18 calcium channel blockers Phase 3,Phase 2
19 Calcium, Dietary Phase 3,Phase 2
20 Risedronate Sodium Phase 3,Phase 2 115436-72-1
21 Hormone Antagonists Phase 3,Not Applicable
22 Hormones Phase 3,Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
24
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
25 Antibodies Phase 2,Phase 1
26 Immunoglobulins Phase 2,Phase 1
27 Antacids Phase 2
28 Anti-Ulcer Agents Phase 2
29 Gastrointestinal Agents Phase 2
30
Busulfan Approved, Investigational Phase 1 55-98-1 2478
31
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
32
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
33
Melatonin Approved, Nutraceutical, Vet_approved Phase 1 73-31-4 896
34 Alkylating Agents Phase 1
35 Antifungal Agents Phase 1
36 Anti-Infective Agents Phase 1
37 Antineoplastic Agents, Alkylating Phase 1
38 Antirheumatic Agents Phase 1
39 Calcineurin Inhibitors Phase 1
40 Cyclosporins Phase 1
41 Dermatologic Agents Phase 1
42 Immunosuppressive Agents Phase 1
43 Antioxidants Phase 1
44 Central Nervous System Depressants Phase 1,Not Applicable
45 Protective Agents Phase 1
46 Antibodies, Monoclonal Phase 1
47
Menthol Approved Not Applicable 2216-51-5 16666
48
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
49 Anabolic Agents
50 Calcifediol 19356-17-3

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
2 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
3 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
6 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
7 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
8 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
9 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
10 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
11 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
12 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
13 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
14 Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TI Completed NCT01140321 Phase 2 Neridronate
15 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Recruiting NCT03208582 Phase 2 Risedronate Sodium
16 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose
17 The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta Active, not recruiting NCT01679080 Phase 2 Zoledronic acid;Teriparatide
18 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Withdrawn NCT03216486 Phase 2 BPS804
19 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
20 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
21 Melatonin Osteoporosis Prevention Study Completed NCT01152580 Phase 1
22 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation Completed NCT00186914 Phase 1
23 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
24 Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta Active, not recruiting NCT02172885 Phase 1
25 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Unknown status NCT02814591
26 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Completed NCT02793063
27 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312 Not Applicable
28 Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study Completed NCT00187018 Not Applicable
29 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
30 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
31 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 Not Applicable pamidronate
32 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Not Applicable Lithium
33 Pregnancy in Osteogenesis Imperfecta (OI) Registry Recruiting NCT03072303
34 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
35 Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation Recruiting NCT03575221
36 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Recruiting NCT02868294 Not Applicable
37 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087
38 Dental Malocclusion and Craniofacial Development in OI Recruiting NCT02934451
39 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Active, not recruiting NCT00001594
40 Diagnosis of Osteogenesis Imperfecta in Children Not yet recruiting NCT03169192 Zoledronic Acid
41 Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI) Terminated NCT02542540 Not Applicable
42 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171 Not Applicable

Search NIH Clinical Center for Brittle Bone Disorder

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: osteogenesis imperfecta

Genetic Tests for Brittle Bone Disorder

Genetic tests related to Brittle Bone Disorder:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta 29 COL1A1 COL1A2

Anatomical Context for Brittle Bone Disorder

MalaCards organs/tissues related to Brittle Bone Disorder:

41
Bone, Skin, Testes, Eye, Bone Marrow, Heart, Breast

Publications for Brittle Bone Disorder

Articles related to Brittle Bone Disorder:

(show top 50) (show all 1103)
# Title Authors Year
1
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017
2
The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28472303 )
2017
3
The Spine in Patients With Osteogenesis Imperfecta. ( 28009707 )
2017
4
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
5
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. ( 28498836 )
2017
6
Osteogenesis imperfecta. ( 28820189 )
2017
7
Femoral and Lumbar Fractures During Rehabilitation for a Traumatic Spinal Cord Injury in Osteogenesis Imperfecta: A Case Presentation. ( 28483687 )
2017
8
Gene expression profiling of bone marrow mesenchymal stem cells from Osteogenesis Imperfecta patients during osteoblast differentiation. ( 28396251 )
2017
9
Letter to the Editor: Therapies for Osteogenesis Imperfecta. ( 28527487 )
2017
10
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. ( 28378289 )
2017
11
Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta. ( 28823022 )
2017
12
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. ( 28904723 )
2017
13
WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH. ( 28480432 )
2017
14
Response to letter: The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. ( 28938474 )
2017
15
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
16
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX. ( 28242392 )
2017
17
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. ( 28475764 )
2017
18
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. ( 28436160 )
2017
19
Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta. ( 28953610 )
2017
20
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE. ( 28085759 )
2017
21
Total femur arthroplasty for revision hip failure in osteogenesis imperfecta: limits of biology. ( 28913398 )
2017
22
Progressive Bilateral Vertebral Artery Dissection in a Case of Osteogenesis Imperfecta. ( 28089253 )
2017
23
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. ( 29354164 )
2017
24
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. ( 28528193 )
2017
25
Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate. ( 28828061 )
2017
26
Combination sclerostin antibody and zoledronic acid treatment outperforms either treatment alone in a mouse model of osteogenesis imperfecta. ( 28461254 )
2017
27
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. ( 28317307 )
2017
28
Osteogenesis imperfecta: diagnosis and treatment. ( 28863000 )
2017
29
Application of 3-Dimensional Printing in a Case of Osteogenesis Imperfecta for Patient Education, Anatomic Understanding, Preoperative Planning, and Intraoperative Evaluation. ( 28823657 )
2017
30
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta. ( 28528406 )
2017
31
[Corrigendum] Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61A Chinese patients with osteogenesis imperfecta. ( 28035422 )
2017
32
Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report. ( 28448325 )
2017
33
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid. ( 27762305 )
2017
34
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. ( 28435282 )
2017
35
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta. ( 28872564 )
2017
36
Clinical application of quantitative computed tomography in osteogenesis imperfecta suspected cat. ( 28057908 )
2017
37
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. ( 28858097 )
2017
38
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
39
Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST). ( 28902000 )
2017
40
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. ( 28916840 )
2017
41
A Rare Case of Bilateral Morgagni's Hernia with Intestinal Obstruction and Malrotation of the Gut in an Adult Patient with Severe Osteogenesis Imperfecta Presenting as Severe Respiratory Distress. ( 28442844 )
2017
42
Therapy with pamidronate in children with osteogenesis imperfecta. ( 28894358 )
2017
43
Femoral neck fractures in osteogenesis imperfecta treated with bisphosphonates. ( 28828062 )
2017
44
Bisphosphonate therapy and osteogenesis imperfecta: The lived experience of children and their mothers. ( 28876506 )
2017
45
Splenomegaly, myeloid lineage expansion and increased osteoclastogenesis in osteogenesis imperfecta murine. ( 28600151 )
2017
46
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI. ( 27796462 )
2017
47
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta ( 28431466 )
2017
48
Surgical Treatment With Pedicle Screws of Scoliosis Associated With Osteogenesis Imperfecta in Children. ( 28882354 )
2017
49
Comment on "The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta." ( 28938436 )
2017
50
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. ( 27789416 )
2017

Variations for Brittle Bone Disorder

ClinVar genetic disease variations for Brittle Bone Disorder:

6
(show top 50) (show all 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
2 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
3 COL1A1 NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg) single nucleotide variant Pathogenic rs72645323 GRCh37 Chromosome 17, 48274388: 48274388
4 COL1A1 NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg) single nucleotide variant Pathogenic rs72645323 GRCh38 Chromosome 17, 50197027: 50197027
5 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
6 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh38 Chromosome 17, 50187486: 50187486
7 COL1A1 NM_000088.3(COL1A1): c.1200+1G> A single nucleotide variant Pathogenic rs72648320 GRCh38 Chromosome 17, 50195433: 50195433
8 COL1A1 NM_000088.3(COL1A1): c.1021G> T (p.Gly341Cys) single nucleotide variant Likely pathogenic rs193922137 GRCh37 Chromosome 17, 48273319: 48273319
9 COL1A1 NM_000088.3(COL1A1): c.1021G> T (p.Gly341Cys) single nucleotide variant Likely pathogenic rs193922137 GRCh38 Chromosome 17, 50195958: 50195958
10 COL1A1 NM_000088.3(COL1A1): c.1200+1G> A single nucleotide variant Pathogenic rs72648320 GRCh37 Chromosome 17, 48272794: 48272794
11 COL1A1 NM_000088.3(COL1A1): c.1235C> G (p.Pro412Arg) single nucleotide variant Likely pathogenic rs193922138 GRCh37 Chromosome 17, 48272657: 48272657
12 COL1A1 NM_000088.3(COL1A1): c.1235C> G (p.Pro412Arg) single nucleotide variant Likely pathogenic rs193922138 GRCh38 Chromosome 17, 50195296: 50195296
13 COL1A1 NM_000088.3(COL1A1): c.1544G> C (p.Gly515Ala) single nucleotide variant Likely pathogenic rs193922140 GRCh37 Chromosome 17, 48271780: 48271780
14 COL1A1 NM_000088.3(COL1A1): c.1544G> C (p.Gly515Ala) single nucleotide variant Likely pathogenic rs193922140 GRCh38 Chromosome 17, 50194419: 50194419
15 COL1A1 NM_000088.3(COL1A1): c.1583G> A (p.Arg528His) single nucleotide variant Likely pathogenic rs144751329 GRCh37 Chromosome 17, 48271741: 48271741
16 COL1A1 NM_000088.3(COL1A1): c.1583G> A (p.Arg528His) single nucleotide variant Likely pathogenic rs144751329 GRCh38 Chromosome 17, 50194380: 50194380
17 COL1A1 NM_000088.3(COL1A1): c.1657delA (p.Thr553Leufs) deletion Likely pathogenic rs193922141 GRCh37 Chromosome 17, 48271502: 48271502
18 COL1A1 NM_000088.3(COL1A1): c.1657delA (p.Thr553Leufs) deletion Likely pathogenic rs193922141 GRCh38 Chromosome 17, 50194141: 50194141
19 COL1A1 NM_000088.3(COL1A1): c.1812delT (p.Gly605Alafs) deletion Likely pathogenic rs193922143 GRCh37 Chromosome 17, 48270364: 48270364
20 COL1A1 NM_000088.3(COL1A1): c.1812delT (p.Gly605Alafs) deletion Likely pathogenic rs193922143 GRCh38 Chromosome 17, 50193003: 50193003
21 COL1A1 NM_000088.3(COL1A1): c.2062C> T (p.Gln688Ter) single nucleotide variant Likely pathogenic rs193922144 GRCh37 Chromosome 17, 48269214: 48269214
22 COL1A1 NM_000088.3(COL1A1): c.2062C> T (p.Gln688Ter) single nucleotide variant Likely pathogenic rs193922144 GRCh38 Chromosome 17, 50191853: 50191853
23 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
24 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh38 Chromosome 17, 50191457: 50191457
25 COL1A1 NM_000088.3(COL1A1): c.2398-1G> C single nucleotide variant Likely pathogenic rs193922147 GRCh37 Chromosome 17, 48267742: 48267742
26 COL1A1 NM_000088.3(COL1A1): c.2398-1G> C single nucleotide variant Likely pathogenic rs193922147 GRCh38 Chromosome 17, 50190381: 50190381
27 COL1A1 NM_000088.3(COL1A1): c.2418delT (p.Gly809Alafs) deletion Likely pathogenic rs193922148 GRCh37 Chromosome 17, 48267721: 48267721
28 COL1A1 NM_000088.3(COL1A1): c.2418delT (p.Gly809Alafs) deletion Likely pathogenic rs193922148 GRCh38 Chromosome 17, 50190360: 50190360
29 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Likely pathogenic rs193922149 GRCh37 Chromosome 17, 48267689: 48267689
30 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Likely pathogenic rs193922149 GRCh38 Chromosome 17, 50190328: 50190328
31 COL1A1 NM_000088.3(COL1A1): c.2594G> A (p.Arg865His) single nucleotide variant Likely pathogenic rs193922150 GRCh37 Chromosome 17, 48267239: 48267239
32 COL1A1 NM_000088.3(COL1A1): c.2594G> A (p.Arg865His) single nucleotide variant Likely pathogenic rs193922150 GRCh38 Chromosome 17, 50189878: 50189878
33 COL1A1 NM_000088.3(COL1A1): c.2685delT (p.Gly896Alafs) deletion Pathogenic/Likely pathogenic rs193922151 GRCh37 Chromosome 17, 48266882: 48266882
34 COL1A1 NM_000088.3(COL1A1): c.2685delT (p.Gly896Alafs) deletion Pathogenic/Likely pathogenic rs193922151 GRCh38 Chromosome 17, 50189521: 50189521
35 COL1A1 NM_000088.3(COL1A1): c.2897A> G (p.Gln966Arg) single nucleotide variant Likely pathogenic rs193922152 GRCh37 Chromosome 17, 48266569: 48266569
36 COL1A1 NM_000088.3(COL1A1): c.2897A> G (p.Gln966Arg) single nucleotide variant Likely pathogenic rs193922152 GRCh38 Chromosome 17, 50189208: 50189208
37 COL1A1 NM_000088.3(COL1A1): c.299_300delAG (p.Glu100Valfs) deletion Likely pathogenic rs193922154 GRCh37 Chromosome 17, 48276950: 48276951
38 COL1A1 NM_000088.3(COL1A1): c.299_300delAG (p.Glu100Valfs) deletion Likely pathogenic rs193922154 GRCh38 Chromosome 17, 50199589: 50199590
39 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
40 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh38 Chromosome 17, 50188765: 50188765
41 COL1A1 NM_000088.3(COL1A1): c.370-2A> G single nucleotide variant Likely pathogenic rs193922155 GRCh37 Chromosome 17, 48276690: 48276690
42 COL1A1 NM_000088.3(COL1A1): c.370-2A> G single nucleotide variant Likely pathogenic rs193922155 GRCh38 Chromosome 17, 50199329: 50199329
43 COL1A1 NM_000088.3(COL1A1): c.517G> T (p.Gly173Ter) single nucleotide variant Likely pathogenic rs193922157 GRCh37 Chromosome 17, 48275820: 48275820
44 COL1A1 NM_000088.3(COL1A1): c.517G> T (p.Gly173Ter) single nucleotide variant Likely pathogenic rs193922157 GRCh38 Chromosome 17, 50198459: 50198459
45 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
46 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Likely pathogenic rs72667023 GRCh38 Chromosome 17, 50198170: 50198170
47 COL1A1 NM_000088.3(COL1A1): c.751-2A> G single nucleotide variant Likely pathogenic rs193922158 GRCh37 Chromosome 17, 48274426: 48274426
48 COL1A1 NM_000088.3(COL1A1): c.751-2A> G single nucleotide variant Likely pathogenic rs193922158 GRCh38 Chromosome 17, 50197065: 50197065
49 COL1A1 NM_000088.3(COL1A1): c.805G> A (p.Gly269Ser) single nucleotide variant Likely pathogenic rs72645328 GRCh37 Chromosome 17, 48274031: 48274031
50 COL1A1 NM_000088.3(COL1A1): c.805G> A (p.Gly269Ser) single nucleotide variant Likely pathogenic rs72645328 GRCh38 Chromosome 17, 50196670: 50196670

Expression for Brittle Bone Disorder

Search GEO for disease gene expression data for Brittle Bone Disorder.

Pathways for Brittle Bone Disorder

Pathways related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 COL1A1 COL1A2 COL2A1 FGFR3 IBSP
2
Show member pathways
12.72 COL1A1 COL1A2 COL2A1 COL3A1 IBSP
3
Show member pathways
12.67 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP P3H1
4
Show member pathways
12.02 COL1A1 COL1A2 COL2A1 COL3A1 CRTAP DCN
5
Show member pathways
12.01 CD36 COL1A1 COL1A2 COL2A1 IBSP
6 11.84 COL1A1 COL1A2 COL3A1
7 11.77 COL1A1 COL3A1 SPARC
8
Show member pathways
11.74 CD36 COL1A1 COL1A2 COL3A1 SPARC
9 11.72 COL1A1 COL1A2 COL3A1
10 11.69 COL1A1 COL1A2 COL3A1
11 11.51 COL2A1 FGFR3 PTH1R
12 11.51 DCN DSPP IBSP SPARC
13 11.44 COL1A1 COL1A2 COL2A1 COL3A1 SPARC
14 11.38 CD36 COL1A1 COL1A2 COL3A1
15 11.34 BGLAP COL1A1 PTH1R
16 11.2 BGLAP COL1A2 DCN
17 11.17 COL1A1 COL1A2 COL3A1
18 10.95 COL1A1 COL1A2
19 10.94 BGLAP COL1A1 COL1A2 IBSP PTH1R
20 10.6 BGLAP COL1A1 IBSP PTH1R

GO Terms for Brittle Bone Disorder

Cellular components related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
2 extracellular matrix GO:0031012 9.73 COL1A1 COL1A2 COL2A1 COL3A1 DCN IBSP
3 platelet alpha granule membrane GO:0031092 9.43 CD36 SPARC
4 collagen type I trimer GO:0005584 9.37 COL1A1 COL1A2
5 collagen trimer GO:0005581 9.35 CD36 COL1A1 COL1A2 COL2A1 COL3A1
6 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 CRTAP
7 extracellular space GO:0005615 10.02 BGLAP CD36 COL1A1 COL1A2 COL2A1 COL3A1
8 endoplasmic reticulum GO:0005783 10.01 COL1A1 COL1A2 CRTAP FGFR3 FKBP10 P3H1

Biological processes related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.89 COL1A1 COL1A2 COL2A1 COL3A1
2 aging GO:0007568 9.85 BGLAP COL3A1 DCN PTH1R
3 platelet activation GO:0030168 9.8 COL1A1 COL1A2 COL3A1
4 osteoblast differentiation GO:0001649 9.79 BGLAP COL1A1 IBSP
5 wound healing GO:0042060 9.78 COL1A1 COL3A1 DCN SPARC
6 collagen catabolic process GO:0030574 9.77 COL1A1 COL1A2 COL2A1 COL3A1 PEPD
7 cellular response to growth factor stimulus GO:0071363 9.76 BGLAP IBSP SPARC
8 response to mechanical stimulus GO:0009612 9.76 BGLAP COL1A1 COL3A1 DCN
9 blood vessel development GO:0001568 9.75 COL1A1 COL1A2 COL3A1
10 cellular response to amino acid stimulus GO:0071230 9.73 COL1A1 COL1A2 COL3A1
11 chaperone-mediated protein folding GO:0061077 9.73 CRTAP FKBP10 P3H1 PPIB
12 bone development GO:0060348 9.72 BGLAP COL2A1 P3H1 PPIB SPARC
13 chondrocyte differentiation GO:0002062 9.71 COL2A1 FGFR3 PTH1R
14 collagen fibril organization GO:0030199 9.71 COL1A1 COL1A2 COL2A1 COL3A1
15 biomineral tissue development GO:0031214 9.7 BGLAP DSPP IBSP
16 endochondral ossification GO:0001958 9.67 COL1A1 COL2A1 FGFR3
17 bone mineralization GO:0030282 9.65 BGLAP FGFR3 IBSP IFITM5 PTH1R
18 regulation of bone mineralization GO:0030500 9.63 BGLAP IFITM5
19 ossification GO:0001503 9.63 BGLAP COL1A1 COL2A1 DSPP PTH1R SPARC
20 osteoblast development GO:0002076 9.62 BGLAP PTH1R
21 protein heterotrimerization GO:0070208 9.61 COL1A1 COL1A2
22 skin morphogenesis GO:0043589 9.61 COL1A1 COL1A2
23 response to gravity GO:0009629 9.6 BGLAP SPARC
24 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.57 COL1A1 COL2A1
25 extracellular matrix organization GO:0030198 9.56 COL1A1 COL1A2 COL2A1 COL3A1 DCN DSPP
26 negative regulation of post-translational protein modification GO:1901874 9.51 CRTAP P3H1
27 skeletal system development GO:0001501 9.23 BGLAP COL1A1 COL1A2 COL2A1 COL3A1 DSPP

Molecular functions related to Brittle Bone Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.55 COL1A1 COL1A2 COL2A1 COL3A1 DSPP
2 protease binding GO:0002020 9.43 COL1A1 COL1A2 COL3A1
3 collagen binding GO:0005518 9.35 DCN DSPP P3H1 PPIB SPARC
4 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 COL1A2 COL2A1 COL3A1

Sources for Brittle Bone Disorder

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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