MCID: OST135
MIFTS: 53

Osteogenesis Imperfecta, Type I malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Summaries for Osteogenesis Imperfecta, Type I

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NIH Rare Diseases:41 Osteogenesis imperfecta (oi) is a genetic disorder that mainly affects the bones. osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. fractures occur less frequently in adulthood. people with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. affected individuals are usually of normal or near normal height. most of the mutations that cause osteogenesis imperfecta type 1 occur in the col1a1 gene. these genetic changes reduce the amount of type i collagen produced in the body, which causes bones to be brittle and to fracture easily. oi type 1 exhibits an autosomal dominant pattern of inheritance. last updated: 11/11/2011

MalaCards based summary: Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta and osteogenesis imperfecta, type iv, and has symptoms including autosomal dominant inheritance, otosclerosis and hearing impairment. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (collagen, type I, alpha 1), and among its related pathways are Cell adhesion ECM remodeling and Protein digestion and absorption. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin, and related mouse phenotypes are limbs/digits/tail and growth/size/body.

OMIM:45 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly... (166200) more...

Aliases & Classifications for Osteogenesis Imperfecta, Type I

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Sources:
45OMIM, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 47Orphanet, 22GTR, 43Novoseek, 60UMLS, 26ICD10 via Orphanet
See all sources

Osteogenesis Imperfecta, Type I, Aliases & Descriptions:

Name: Osteogenesis Imperfecta, Type I 45 10
Osteogenesis Imperfecta Type 1 41 47 22
Van Der Hoeve Syndrome 63 41 47
Non-Deforming Osteogenesis Imperfecta 41 47
Mild Osteogenesis Imperfecta 41 47
Adair-Dighton Syndrome 41 47
Oi Type 1 41 47
 
Osteogenesis Imperfecta with Blue Sclerae 41
Osteogenesis Imperfecta Type I 63
Osteogenesis Imperfecta Tarda 41
Trias Fragilitis Ossium 63
Lobstein's Disease 60
Oi, Type I 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 166200
Orphanet47 216796
ICD10 via Orphanet26 Q78.0

Related Diseases for Osteogenesis Imperfecta, Type I

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Iv Osteogenesis Imperfecta, Type Iii
Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Xiii
Osteogenesis Imperfecta, Type Xiv Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
osteogenesis imperfecta, type i Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
Crtap-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Serpinf1-Related Osteogenesis Imperfecta Serpinh1-Related Osteogenesis Imperfecta
Sp7-Related Osteogenesis Imperfecta Ifitm5-Related Osteogenesis Imperfecta
Bmp1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.4CD36, COL1A2, COL1A1
2osteogenesis imperfecta, type iv30.5COL1A1, COL1A2
3otosclerosis30.4COL1A1, COL1A2, CD36
4dentinogenesis imperfecta30.3CD36, COL1A2, COL1A1
5ehlers-danlos syndrome30.1COL1A1, COL1A2, CD36
6osteoporosis30.0CD36, COL1A1
7classic non-deforming osteogenesis imperfecta with blue sclerae10.6
8osteogenesis imperfecta, type ii10.4COL1A1
9caffey disease10.4COL1A1
10hyper ige syndrome10.3
11vaginitis10.3
12osteogenesis imperfecta type 1a10.3
13osteogenesis imperfecta, type viii10.2
14osteogenesis imperfecta, type xiii10.2
15osteogenesis imperfecta, type xiv10.2
16osteogenesis imperfecta, type v10.2
17osteogenesis imperfecta, type xv10.2
18osteogenesis imperfecta, type iii10.1COL1A1, COL1A2
19col1a1/2-related osteogenesis imperfecta10.1COL1A1, COL1A2
20ehlers-danlos syndrome, type i10.1COL1A1, COL1A2
21systemic scleroderma10.0COL1A2, COL1A1
22collagen disease10.0CD36, COL1A1
23idiopathic juvenile osteoporosis9.9COL1A2, CD36
24gingival overgrowth9.9CD36, COL1A1
25marfan syndrome9.9COL1A2, CD36
26glomerulosclerosis9.8CD36, COL1A2
27connective tissue disease9.8COL1A1, COL1A2, CD36
28pulmonary fibrosis9.7CD36, COL1A2, COL1A1
29osteoarthritis9.6CD36, COL1A2, COL1A1

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



Diseases related to osteogenesis imperfecta, type i

Symptoms for Osteogenesis Imperfecta, Type I

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Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200

HPO human phenotypes related to Osteogenesis Imperfecta, Type I:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 otosclerosis HP:0000362
3 hearing impairment HP:0000365
4 blue sclerae HP:0000592
5 dentinogenesis imperfecta HP:0000703
6 osteopenia HP:0000938
7 thin skin HP:0000963
8 bruising susceptibility HP:0000978
9 joint hypermobility HP:0001382
10 growth abnormality HP:0001507
11 mitral valve prolapse HP:0001634
12 aortic dilatation HP:0001724
13 wormian bones HP:0002645
14 increased susceptibility to fractures HP:0002659
15 recurrent fractures HP:0002757
16 femoral bowing HP:0002980
17 biconcave flattened vertebrae HP:0003321

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta, Type I

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Genetic Tests for Osteogenesis Imperfecta, Type I

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Genetic tests related to Osteogenesis Imperfecta, Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I22

Anatomical Context for Osteogenesis Imperfecta, Type I

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type I:

31
Bone, Eye, Skin, Testes

Animal Models for Osteogenesis Imperfecta, Type I or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7COL1A1, COL1A2, GGT1
2MP:00053788.2CD36, GGT1, COL1A2, COL1A1
3MP:00053908.1CD36, GGT1, COL1A2, COL1A1

Publications for Osteogenesis Imperfecta, Type I

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Articles related to Osteogenesis Imperfecta, Type I:

(show all 50)
idTitleAuthorsYear
1
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. (25696019)
2015
2
Validity of an accelerometer as a vertical ground reaction force measuring device in healthy children and adolescents and in children and adolescents with osteogenesis imperfecta type I. (24879019)
2014
3
Osteogenesis imperfecta type I: A case report. (24926339)
2014
4
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. (24682174)
2014
5
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. (23907723)
2013
6
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. (24296239)
2013
7
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. (23293527)
2013
8
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. (24248189)
2013
9
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
10
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. (22795118)
2012
11
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
12
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
13
An unusual presentation of osteogenesis imperfecta type I. (23754901)
2011
14
Ebstein's anomaly in a child with osteogenesis imperfecta type I. (22461818)
2011
15
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. (25389586)
2009
16
Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. (19199251)
2009
17
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. (18271949)
2008
18
Molecular diagnosis of osteogenesis imperfecta type I]. (19145934)
2008
19
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. (18755172)
2008
20
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. (17982699)
2007
21
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (16786509)
2006
22
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. (15827104)
2005
23
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. (15046069)
2004
24
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. (15580207)
2004
25
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. (15647630)
2004
26
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. (12665966)
2003
27
Hypercalciuria in osteogenesis imperfecta type I. (14520592)
2003
28
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. (11984701)
2002
29
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (11317364)
2001
30
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. (10942108)
2000
31
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. (10686420)
2000
32
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. (11113887)
2000
33
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. (11044947)
2000
34
Bone density measurements by computed tomography in osteogenesis imperfecta type I. (10550462)
1999
35
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. (10521849)
1999
36
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. (9443882)
1998
37
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. (9503369)
1998
38
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. (9228859)
1997
39
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. (8808594)
1996
40
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. (8734703)
1996
41
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (8544188)
1995
42
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. (7942841)
1994
43
Molecular heterogeneity in osteogenesis imperfecta type I. (8456806)
1993
44
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. (1353940)
1992
45
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. (1952595)
1991
46
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. (2295701)
1990
47
Osteogenesis imperfecta type I with unusual dental abnormalities. (3239581)
1988
48
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. (3023615)
1986
49
Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study. (6697589)
1984
50
Heterogeneity of osteogenesis imperfecta type I. (6876111)
1983

Variations for Osteogenesis Imperfecta, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type I:

62 (show all 26)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly221CysVAR_001644
2COL1A1p.Gly224CysVAR_001645
3COL1A1p.Gly263ArgVAR_001646
4COL1A1p.Gly263ValVAR_001647
5COL1A1p.Gly272CysVAR_001648
6COL1A1p.Gly1079SerVAR_001714
7COL1A1p.Gly1195CysVAR_001731
8COL1A1p.Gly194ArgVAR_063292
9COL1A1p.Gly200ValVAR_063294
10COL1A1p.Gly266GluVAR_063298
11COL1A1p.Gly287SerVAR_063299
12COL1A1p.Gly320ValVAR_063302
13COL1A1p.Val349PheVAR_063304
14COL1A1p.Pro555ArgVAR_063313
15COL1A1p.Gly647SerVAR_063319
16COL1A1p.Gly722SerVAR_063321
17COL1A1p.Gly1157AspVAR_063338
18COL1A1p.Asp1219GluVAR_063339
19COL1A2p.Gly211AspVAR_001852
20COL1A2p.Gly328SerVAR_001855
21COL1A2p.Gly736CysVAR_001879
22COL1A2p.Gly835SerVAR_001890
23COL1A2p.Gly247ArgVAR_063346
24COL1A2p.Gly319ArgVAR_063350
25COL1A2p.Gly733CysVAR_063363
26COL1A2p.Cys1195TyrVAR_063383

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type I:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys)single nucleotide variantPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
2COL1A1NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
3COL1A1NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys)single nucleotide variantPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
4COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
5COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
6COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
7COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic

Expression for genes affiliated with Osteogenesis Imperfecta, Type I

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type I.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type I

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Pathways related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Metalloproteases in connective tissue degradation
9.5COL1A2, COL1A1
29.5COL1A1, COL1A2
39.5COL1A2, COL1A1
4
Show member pathways
9.5COL1A2, COL1A1
5
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.5COL1A2, COL1A1
69.5COL1A2, COL1A1
79.5COL1A1, COL1A2
8
Show member pathways
9.5COL1A1, COL1A2
99.5COL1A1, COL1A2
109.5COL1A2, COL1A1
11
Show member pathways
8.7CD36, COL1A2, COL1A1
128.7CD36, COL1A2, COL1A1
13
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.7CD36, COL1A2, COL1A1
14
Show member pathways
8.7CD36, COL1A2, COL1A1

Compounds for genes affiliated with Osteogenesis Imperfecta, Type I

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Compounds related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1nppa439.9COL1A2, COL1A1
2carbodiimide439.9COL1A2, COL1A1
3nppb28 43 5911.8COL1A1, COL1A2
4xbai439.8COL1A2, COL1A1
5ecori439.8COL1A1, COL1A2
6rsai439.8COL1A2, COL1A1
7mspi439.8COL1A2, COL1A1
8simvastatin43 49 59 28 24 1214.5COL1A1, COL1A2
9cyanogen bromide439.5CD36, COL1A2
10hydroxyproline43 24 1211.4COL1A1, CD36
11mycophenolate mofetil43 49 1211.4CD36, GGT1
12carbamazepine43 49 1211.4CD36, GGT1
13betacarotene439.3CD36, GGT1
14pioglitazone28 43 49 1212.3CD36, GGT1
15glycosaminoglycan439.3CD36, COL1A1
16aspartate439.2GGT1, COL1A2, COL1A1
17alpha tocopherol439.2CD36, GGT1
18valine439.2GGT1, COL1A1
19tacrolimus43 49 1211.1CD36, GGT1
20procollagen439.0CD36, COL1A2, COL1A1
21hyaluronic acid43 2410.0CD36, GGT1
22vitamin d439.0CD36, COL1A2, COL1A1
23dexamethasone43 49 28 1211.8COL1A1, GGT1, CD36
24cysteine438.5CD36, GGT1, COL1A2, COL1A1
25serine438.4COL1A1, COL1A2, GGT1, CD36
26estrogen438.4COL1A1, COL1A2, GLYAT, CD36

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type I

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Cellular components related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.5COL1A2, COL1A1
2collagen type IGO:00055849.4COL1A2, COL1A1
3extracellular matrixGO:00310129.2COL1A2, COL1A1

Biological processes related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.8COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.7COL1A2, COL1A1
3collagen fibril organizationGO:00301999.7COL1A1, COL1A2
4blood vessel developmentGO:00015689.7COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.6COL1A2, COL1A1
6collagen catabolic processGO:00305749.6COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.5COL1A2, COL1A1
8leukocyte migrationGO:00509009.4COL1A1, COL1A2
9xenobiotic metabolic processGO:00068059.3GGT1, GLYAT
10skeletal system developmentGO:00015019.2COL1A2, COL1A1
11platelet activationGO:00301688.9CD36, COL1A2, COL1A1
12blood coagulationGO:00075968.8COL1A1, COL1A2, CD36

Molecular functions related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.5COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.2COL1A2, COL1A1

Products for genes affiliated with Osteogenesis Imperfecta, Type I

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Sources for Osteogenesis Imperfecta, Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet