OI
MCID: OST005
MIFTS: 68

Osteogenesis Imperfecta (OI) malady

Bone category

Summaries for Osteogenesis Imperfecta

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:34 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 using 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: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta type i and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Platelet Adhesion to exposed collagen and Osteoblast Signaling. The drugs calcitonin and salmon calcitonin and the compounds procollagen and estrogen have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and uterus, and related mouse phenotypes are skeleton and growth/size.

Disease Ontology:8 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:21 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:43 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 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. there are at least eight recognized forms of osteogenesis imperfecta, designated type i through type viii. the types can be distinguished by their signs and symptoms, as well as by genetic factors. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. last updated: 10/3/2011

Wikipedia:64 Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or \"Lobstein syndrome\") is a... more...

Description from OMIM:47 610854, 166200, 259420, 610968, 166220 610915, 610682, 166210, 259440, 166240 more

Aliases & Classifications for Osteogenesis Imperfecta

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 35MeSH, 47OMIM, 57SNOMED-CT
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone


Aliases & Descriptions:

osteogenesis imperfecta 8 64 43 20 22 21 10 45 34 61
brittle bone disease 8 64 43 21
fragilitas ossium 64 43 21
vrolik disease 64 43 21
oi 64 43 21
osteopsathyrosis 8 64
osteogenesis imperfecta, recessive perinatal lethal 61
ekman-lobstein disease 64
lobstein's syndrome 8
vrolik's disease 8


Related Diseases for Osteogenesis Imperfecta

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Osteogenesis Imperfecta family:

osteogenesis imperfecta type iii osteogenesis imperfecta type i
osteogenesis imperfecta type 9 osteogenesis imperfecta type 1a
osteogenesis imperfecta type 2a osteogenesis imperfecta type 2b
osteogenesis imperfecta type 4 osteogenesis imperfecta type 5
osteogenesis imperfecta type 6 osteogenesis imperfecta type 7
osteogenesis imperfecta type 8 sp7-related osteogenesis imperfecta
osteogenesis imperfecta type xi osteogenesis imperfecta type x
osteogenesis imperfecta type xii osteogenesis imperfecta type xiii
osteogenesis imperfecta, type ii osteogenesis imperfecta, type xiv
osteogenesis imperfecta, type xv

Diseases related to Osteogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i32.0COL1A1, COL1A2
2dentinogenesis imperfecta31.2CD36, LEPRE1, COL1A1, IBSP, CRTAP, DSPP
3osteogenesis imperfecta type iii31.0COL1A2, COL1A1
4osteogenesis imperfecta type 631.0BP10, FKBP10
5osteogenesis imperfecta, type ii30.8COL1A1, COL1A2
6osteoporosis30.8SP7, CD36, IBSP, BGLAP, COL2A1, COL1A2
7osteogenesis imperfecta type 430.8COL1A1, COL1A2
8col1a1/2-related osteogenesis imperfecta30.6COL1A1, COL1A2
9osteonecrosis30.5BGLAP
10fibrous dysplasia30.4BGLAP, IBSP
11otosclerosis30.4COL1A1, CD36, COL1A2
12idiopathic juvenile osteoporosis30.4COL1A1, BGLAP
13osteoporosis, postmenopausal30.1BGLAP, COL1A1, IBSP, CD36
14rickets30.1CD36, BGLAP
15secondary syphilis30.1IBSP, BGLAP, CD36
16dwarfism30.1COL2A1
17osteoarthritis30.1COL1A1, COL2A1, BGLAP, COL1A2, IBSP, DSPP
18bone fracture10.6
19ehlers-danlos/osteogenesis imperfecta syndrome10.6
20osteogenesis imperfecta type 910.6
21osteogenesis imperfecta type 510.6
22ehlers–danlos syndrome10.6
23osteogenesis imperfecta type 810.6
24osteogenesis imperfecta type 710.5
25osteogenesis imperfecta type xiii10.5
26osteogenesis imperfecta type 2a10.5
27osteogenesis imperfecta type xi10.5
28osteogenesis imperfecta type xii10.5
29type i ehlers-danlos syndrome10.5
30osteogenesis imperfecta levin type10.5
31osteogenesis imperfecta type 1a10.5
32osteoporosis-pseudoglioma syndrome10.5
33osteogenesis imperfecta type x10.5
34osteogenesis imperfecta, type xiv10.5
35osteogenesis imperfecta type 2b10.4
36osteogenesis imperfecta, type xv10.4
37high bone mass osteogenesis imperfecta10.4
38reflex sympathetic dystrophy10.3
39spondylolysis10.3
40hypophosphatasia10.3
41dentinogenesis imperfecta 110.3
42cerebellar hypoplasia10.3
43crtap-related osteogenesis imperfecta10.3
44perinatally lethal osteogenesis imperfecta10.3
45progressively deforming osteogenesis imperfecta10.3
46congenital osteogenesis imperfecta - microcephaly - cataracts10.3
47postural orthostatic tachycardia syndrome10.3
48spondylolisthesis10.3
49thanatophoric dysplasia10.3
50triple-a syndrome10.3

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta:



Diseases related to osteogenesis imperfecta

Clinical Features for Osteogenesis Imperfecta

Sources:
47OMIM
See all sources

Clinical features from OMIM:

610854,166200,259420,610968,166220,610915,610682,166210,259440,166240

Drugs & Therapeutics for Osteogenesis Imperfecta

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta

Search NIH Clinical Center for Osteogenesis Imperfecta

Search CenterWatch for Osteogenesis Imperfecta

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta20 22

Anatomical Context for Osteogenesis Imperfecta

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Osteogenesis Imperfecta:

33
Skin, Lung, Uterus, Bone marrow, Whole blood, Heart, Skeletal muscle, Small intestine, Colon, Breast, T cells, B cells, Endothelial, Fetal lung

Animal Models for Osteogenesis Imperfecta or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.7CD36, CRTAP, IBSP, LEPRE1, GGT1, SERPINH1
2MP:00053789.7GGT1, LEPRE1, CD36, CRTAP, PPIB, BMP1
3MP:00053719.5SERPINH1, GGT1, LEPRE1, FKBP10, IBSP, COL1A1

Publications for Osteogenesis Imperfecta

Sources:
51PubMed
See all sources

Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 839)
idTitleAuthorsYear
1
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (22949511)
2013
2
New genes in bone development: what's new in osteogenesis imperfecta. (23771926)
2013
3
Fractures at diagnosis in infants and children with osteogenesis imperfecta. (23232376)
2013
4
Potential of Human Fetal Chorionic Stem Cells for the Treatment of Osteogenesis Imperfecta. (24028330)
2013
5
Primary and revision total hip arthroplasty in osteogenesis imperfecta. (23329537)
2013
6
Mini-sternotomy approach for aortic valve replacement in a patient with osteogenesis imperfecta. (24337243)
2013
7
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. (22615817)
2012
8
Burnei's procedure in the treatment of long bone pseudarthrosis in patients having osteogenesis imperfecta or congenital pseudarthrosis of tibia - preliminary report. (22802896)
2012
9
Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters. (22319032)
2012
10
Recent advances in osteogenesis imperfecta. (22451222)
2012
11
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. (22407910)
2012
12
Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP. (21964860)
2011
13
Extraperitoneal laparoscopy-assisted percutaneous nephrolithotomy in a patient with osteogenesis imperfecta. (20229321)
2011
14
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. (21282188)
2011
15
Osteogenesis imperfecta type V. (21822652)
2011
16
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. (19714363)
2010
17
Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. (20881659)
2010
18
Osteogenesis imperfecta in a 3,000-year-old mummy. (19212769)
2009
19
Osteogenesis imperfecta: questions and answers. (19907330)
2009
20
Single molecule effects of osteogenesis imperfecta mutations in tropocollagen protein domains. (19177360)
2009
21
Oral findings in adults with osteogenesis imperfecta. (19284510)
2009
22
Zolendronate in osteogenesis imperfecta. (19845128)
2009
23
Osteogenesis imperfecta in a Nigerian neonate: a case report. (19025027)
2008
24
Osteogenesis imperfecta collagen-like peptides: self-assembly and mineralization on surfaces. (18498187)
2008
25
Aortic root replacement with a stentless bioprosthesis in osteogenesis imperfecta. (18512491)
2008
26
Mandibular reconstruction with bone transport in a patient with osteogenesis imperfecta. (18524539)
2008
27
Endoscopic transnasal decompression for management of basilar invagination in osteogenesis imperfecta. (18939921)
2008
28
Spondylolisthesis caused by extreme pedicle elongation in osteogenesis imperfecta. (17242874)
2007
29
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. (15850131)
2005
30
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. (15728585)
2005
31
Spontaneous carotid artery dissection in two siblings with osteogenesis imperfecta. (14981351)
2004
32
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. (11793376)
2002
33
Results of stapedectomy in osteogenesis imperfecta]. (12162021)
2002
34
Transfer of proalpha2(I) cDNA into cells of a murine model of human Osteogenesis Imperfecta restores synthesis of type I collagen comprised of alpha1(I) and alpha2(I) heterotrimers in vitro and in vivo. (11500956)
2001
35
Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. (11760017)
2001
36
Bisphosphonate therapy for severe osteogenesis imperfecta. (11086652)
2000
37
Osteogenesis imperfecta and orthognathic surgery: case report with long-term follow-up. (11307196)
2000
38
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. (10627137)
1998
39
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. (8800927)
1996
40
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. (8588588)
1995
41
A morphometric analysis of osteoid collagen fibril diameter in osteogenesis imperfecta. (8068454)
1994
42
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. (7982948)
1994
43
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (8100209)
1993
44
Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families. (8096115)
1993
45
Unusual dentinal changes in dentinogenesis imperfecta associated with osteogenesis imperfecta. A case report. (1574308)
1992
46
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
1991
47
Hypercalciuria in children severely affected with osteogenesis imperfecta. (2066859)
1991
48
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. (2777764)
1989
49
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
50
Central retinal artery occlusion in association with osteogenesis imperfecta. (3589811)
1987

Genetic Variations for Osteogenesis Imperfecta

Expression for genes affiliated with Osteogenesis Imperfecta

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta

Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for genes affiliated with Osteogenesis Imperfecta

Sources:
54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore, 30KEGG, 52QIAGEN
See all sources

Pathways related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4COL1A2, COL1A1
210.3COL1A1, IBSP
310.3COL1A2, COL1A1, CD36
410.3COL1A2, CD36, COL1A1
510.3BMP1, COL1A1, COL1A2
610.3BMP1, COL1A2, COL1A1
7
Cell adhesion ECM remodeling
Hide members
10.3COL2A1, COL1A2, COL1A1
810.3COL2A1, COL1A2, COL1A1
910.3COL1A1, COL2A1, COL1A2
10
Hide members
10.3COL2A1, COL1A2, COL1A1
1110.2COL1A1, COL2A1, IBSP, COL1A2
12
Hide members
10.2COL2A1, COL1A2, COL1A1, IBSP
13
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.1IBSP, BGLAP, COL1A1, COL1A2, COL2A1
14
Hide members
10.0COL1A1, SERPINH1, LEPRE1, CRTAP, PPIB, BMP1

Compounds for genes affiliated with Osteogenesis Imperfecta

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR
See all sources

Compounds related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1procollagen4510.8COL2A1, COL1A2
2estrogen4510.7GLYAT
3Collagenase1110.7COL1A2, COL1A1, COL2A1
4ti6al4v4510.7BGLAP, CD36
5carbodiimide4510.7RNASE1, COL1A2, COL1A1
6ibandronate45 1111.7IBSP, BGLAP, CD36
7calcium carbonate4510.6CD36, DSPP, BGLAP
8tartrate4510.6BGLAP, CD36, DSPP
9nppa4510.6COL1A2, COL1A1
10polyglycolic acid4510.6BGLAP, DSPP, CD36
11chitosan4510.6CD36, IBSP, BGLAP
12chlorhexidine gluconate4510.6SERPINH1, DSPP
13alizarin4510.6CD36, IBSP, BGLAP, SP7
14acetone4510.6DSPP, CD36, RNASE1
15titanium4510.6BGLAP, CD36, IBSP
16zoledronic acid4510.6IBSP, BGLAP, CD36
17methylmethacrylate4510.6IBSP, DSPP
18deoxypyridinoline4510.6BGLAP, IBSP, CD36
19pyridinoline4510.6COL2A1, BGLAP, CD36, IBSP
20alendronate45 50 1112.6BGLAP, DSPP, CD36
2122-oxacalcitriol4510.6BGLAP, CD36
22hydroxyapatite4510.6BGLAP, DSPP, IBSP, CD36
23fluorescein45 1111.6DSPP, BGLAP, SERPINF1
24alginate4510.6CD36, BGLAP, COL2A1
25glycosaminoglycan4510.5SERPINF1, CD36, IBSP, COL2A1, COL1A1
26hydroxyproline45 11 2412.5CD36, IBSP, BGLAP, COL1A1, COL2A1
27etidronate4510.5CD36, BGLAP
28hydroxylysine4510.5COL1A1, COL2A1
29glutamate4510.5IBSP, RNASE1, BMP1
30teriparatide45 1111.5BGLAP, CD36
31serine4510.5RNASE1, COL2A1, SERPINF1, COL1A2, BGLAP, BMP1
32silver nitrate4510.4DSPP, CD36
33guanidine hydrochloride4510.4RNASE1, BGLAP, DSPP
34vitamin d4510.4COL2A1, COL1A2, COL1A1, BGLAP, DSPP, IBSP
35grgds4510.4IBSP, CD36
36heparin45 29 11 2413.4BGLAP, IBSP, BMP1, PPIB, CD36, RNASE1
37oligonucleotide4510.3COL1A2, IBSP, COL2A1, RNASE1, COL1A1, SERPINH1
38tannins4510.3CD36, DSPP
39h2o24510.3RNASE1, BGLAP, SERPINF1, GGT1, DSPP, CD36
40vegf4510.3COL1A1, BGLAP, SERPINF1, SP7, SERPINH1, RNASE1
41arginine4510.3RNASE1, DSPP, BMP1, GGT1, BGLAP, COL1A1
42aspartate4510.3RNASE1, COL1A2, GGT1, DSPP, BMP1, COL1A1
43dexamethasone45 50 29 1113.3COL2A1, DSPP, COL1A1, BGLAP, IBSP, SP7
44alanine4510.3BMP1, BGLAP, RNASE1, COL1A1, GGT1, COL2A1
451,25 dihydroxy vitamin d34510.3COL1A1, BGLAP, IBSP
46ascorbic acid45 2411.2COL2A1, SP7, DSPP, GGT1, SERPINH1, LEPRE1
47alpha tocopherol4510.1BGLAP, GGT1, CD36
48cysteine4510.1IBSP, COL2A1, COL1A1, BGLAP, BMP1, DSPP
49calcium45 50 11 2413.1COL2A1, RNASE1, COL1A2, DSPP, BMP1, IBSP
50vitamin k24510.0CD36, BGLAP

GO Terms for genes affiliated with Osteogenesis Imperfecta

Sources:
16Gene Ontology
See all sources

Cellular components related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.3COL1A2, COL1A1
2proteinaceous extracellular matrixGO:00557810.2LEPRE1, DSPP, CRTAP, BMP1
3endoplasmic reticulum lumenGO:00578810.0COL2A1, SERPINH1, LEPRE1, FKBP10, CRTAP, PPIB
4extracellular spaceGO:00561510.0COL2A1, COL1A2, COL1A1, BGLAP, BMP1, SERPINH1
5extracellular regionGO:0055769.6RNASE1, BMP1, IBSP, BGLAP, COL1A1, COL1A2

Biological processes related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:03296410.5SERPINH1, COL1A1
2skin morphogenesisGO:04358910.5COL1A1, COL1A2
3osteoblast differentiationGO:00164910.5COL1A1, BGLAP, SP7
4cartilage development involved in endochondral bone morphogenesisGO:06035110.5COL2A1, COL1A1
5collagen fibril organizationGO:03019910.4COL2A1, COL1A2, COL1A1, LEPRE1, SERPINH1
6regulation of bone mineralizationGO:03050010.3IFITM5, BGLAP
7ossificationGO:00150310.3DSPP, BMP1, IBSP
8collagen catabolic processGO:03057410.3COL2A1, COL1A2, COL1A1
9skeletal system developmentGO:00150110.3DSPP, BMP1, BGLAP, COL1A1, COL1A2, COL2A1
10extracellular matrix disassemblyGO:02261710.2COL1A1, COL1A2, COL2A1
11extracellular matrix organizationGO:03019810.1SERPINH1, COL2A1, COL1A2, COL1A1, IBSP, BMP1
12protein heterotrimerizationGO:07020810.1COL1A1, COL1A2

Molecular functions related to Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00520110.3DSPP, COL1A1, COL1A2
2platelet-derived growth factor bindingGO:04840710.0COL1A1, COL1A2, COL2A1

Products for genes affiliated with Osteogenesis Imperfecta

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet