OI4
MCID: OST121
MIFTS: 48

Osteogenesis Imperfecta, Type Iv (OI4) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 54
Osteogenesis Imperfecta Type Iv 12 50 66 69
Osteogenesis Imperfecta Type 4 12 56 14
Osteogenesis Imperfecta with Normal Sclerae 50 66
Oi, Type Iv 66 52
Oi Type Iv 50 13
Oi Type 4 50 56
Oi4 12 66
Osteogenesis Imperfecta with Normal Sclera 12
Common Variable Oi with Normal Sclerae 50
Osteogenesis Imperfecta 4 66
Oi-Iv 66

Characteristics:

Orphanet epidemiological data:

56
osteogenesis imperfecta type 4
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal;

HPO:

32
osteogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 166220
Disease Ontology 12 DOID:0110340
ICD10 33 Q78.0
Orphanet 56 ORPHA216820
MESH via Orphanet 43 C536045
UMLS via Orphanet 70 C0268363
ICD10 via Orphanet 34 Q78.0
MedGen 40 C0268363
MeSH 42 D010013

Summaries for Osteogenesis Imperfecta, Type Iv

NIH Rare Diseases : 50 osteogenesis imperfecta type iv (oi type iv) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). oi type iv is caused by changes (mutations) in the col1a1 or col1a2 gene and is inherited in an autosomal dominant manner. there is currently no cure for oi type iv. treatment is supportive and based on the signs and symptoms present in each person. last updated: 1/14/2016

MalaCards based summary : Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type iv, is related to common variable osteogenesis imperfecta with normal sclerae and osteogenesis imperfecta, type v, and has symptoms including scoliosis, kyphosis and hearing impairment. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Pamidronate and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are limbs/digits/tail and skeleton

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM : 54 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in... (166220) more...

UniProtKB/Swiss-Prot : 66 Osteogenesis imperfecta 4: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.

Related Diseases for Osteogenesis Imperfecta, Type Iv

Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii 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 Xvi
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 Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 common variable osteogenesis imperfecta with normal sclerae 11.2
2 osteogenesis imperfecta, type v 11.1
3 osteogenesis imperfecta, type viii 10.9
4 osteogenesis imperfecta, type xiii 10.9
5 osteogenesis imperfecta, type xiv 10.9
6 osteogenesis imperfecta, type xv 10.9
7 osteogenesis imperfecta 10.5
8 cngb3-related stargardt disease 1 10.3 COL1A1 COL1A2
9 isolated lissencephaly type 1 without known genetic defects 10.3 COL1A1 COL1A2
10 charcot-marie-tooth neuropathy type 2a 10.3 COL1A1 COL1A2
11 20p13 microdeletion syndrome 10.3 COL1A1 COL1A2
12 epileptic encephalopathy, early infantile, 36 10.2 COL1A1 COL1A2
13 factor xiiia deficiency 10.2 COL1A1 COL1A2
14 osteogenesis imperfecta, type iii 10.2 COL1A1 COL1A2
15 interstitial lung and liver disease 10.2 FKBP10 SP7
16 phyh-related refsum disease 10.2 CD36 COL1A1 COL1A2
17 ceroid lipofuscinosis, neuronal, 11 10.2 CD36 COL1A1 COL1A2
18 agraphia 10.2 CD36 COL1A1 COL1A2
19 mental retardation, autosomal recessive 35 10.2 CD36 COL1A1 COL1A2
20 akinetic mutism 10.2 CD36 SPARC
21 inflammatory bowel disease 22 10.2 CRTAP FKBP10
22 prph2-related retinitis pigmentosa 10.1 COL1A1 COL1A2 SERPINF1
23 porphyria cutanea tarda 10.1 COL1A1 COL1A2 CRTAP
24 long qt syndrome 1 10.1 CD36 COL1A1 COL1A2 SP7
25 childhood vagina botryoid rhabdomyosarcoma 10.0 PKDREJ SPARC
26 human herpesvirus 8 10.0 CD36 COL1A1 COL1A2 CRTAP
27 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.0 COL1A1 COL1A2 SERPINF1 TMEM38B
28 clivus meningioma 10.0 COL1A1 COL1A2 PPIB
29 neuroschistosomiasis 10.0 COL1A2 DSPP
30 muscle hypertrophy 10.0 CD36 COL1A1 COL1A2 DSPP
31 hypophosphatasia, childhood 9.9 COL1A1 DSPP
32 deafness, autosomal recessive 61 9.9 CD36 COL1A1 COL1A2 CRTAP PPIB
33 bone structure disease 9.9 COL1A1 COL1A2 CRTAP FKBP10 PPIB
34 carnitine deficiency, systemic primary 9.9 CD36 COL1A1 COL1A2 SPARC WNT1
35 diabetic neuropathy 9.8 COL1A1 COL1A2 CRTAP DSPP FKBP10
36 autism susceptibility 16 9.7 COL1A1 COL1A2 CRTAP FKBP10 PPIB SERPINF1
37 xanthinuria 9.6 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
38 ehlers-danlos syndrome, cardiac valvular form 9.4 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
39 prostatocystitis 8.8 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
40 osteogenesis imperfecta, type ii 8.3 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10

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



Diseases related to Osteogenesis Imperfecta, Type Iv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iv

Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

Human phenotypes related to Osteogenesis Imperfecta, Type Iv:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 kyphosis 32 HP:0002808
3 hearing impairment 32 HP:0000365
4 short stature 32 HP:0004322
5 dentinogenesis imperfecta 32 HP:0000703
6 wormian bones 32 HP:0002645
7 reduced bone mineral density 32 HP:0004349
8 recurrent fractures 32 HP:0002757
9 blue sclerae 32 HP:0000592
10 otosclerosis 32 HP:0000362
11 biconcave flattened vertebrae 32 HP:0003321
12 bowing of limbs due to multiple fractures 32 HP:0003023
13 femoral bowing present at birth, straightening with time 32 HP:0005005

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.7 GGT1 PPIB SP7 SPARC COL1A1 COL1A2
2 skeleton MP:0005390 9.36 CD36 COL1A1 COL1A2 CRTAP FKBP10 GGT1
3 pigmentation MP:0001186 9.26 COL1A1 GGT1 SERPINF1 SPARC

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

Drugs for Osteogenesis Imperfecta, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 3 40391-99-9 4674
2 Hormone Antagonists Phase 3
3 Diphosphonates Phase 3
4 Hormones Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
6 Immunoglobulins Phase 1
7 Antibodies, Monoclonal Phase 1
8 Antibodies Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3
2 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3
3 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2
4 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Not yet recruiting NCT03064074 Phase 1
5 Evaluation and Intervention for the Effects of Osteogenesis Imperfecta Recruiting NCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iv

Genetic Tests for Osteogenesis Imperfecta, Type Iv

Anatomical Context for Osteogenesis Imperfecta, Type Iv

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

39
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Iv

Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 17)
id Title Authors Year
1
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
2
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. ( 25835785 )
2015
3
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. ( 23548243 )
2013
4
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. ( 22795107 )
2012
5
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. ( 22567450 )
2011
6
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. ( 20613943 )
2010
7
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. ( 19751715 )
2009
8
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. ( 11836364 )
2002
9
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. ( 11793376 )
2002
10
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. ( 9600458 )
1998
11
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. ( 9367795 )
1997
12
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. ( 8786065 )
1996
13
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
14
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. ( 1642148 )
1992
15
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. ( 2064612 )
1991
16
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. ( 2745420 )
1989
17
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. ( 2897363 )
1988

Variations for Osteogenesis Imperfecta, Type Iv

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

66 (show all 31)
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly353Cys VAR_001652
2 COL1A1 p.Gly356Cys VAR_001653
3 COL1A1 p.Gly383Cys VAR_001654
4 COL1A1 p.Gly398Ala VAR_001657
5 COL1A1 p.Gly401Cys VAR_001659
6 COL1A1 p.Gly527Cys VAR_001665
7 COL1A1 p.Gly530Ser VAR_001666
8 COL1A1 p.Gly560Ser VAR_001668
9 COL1A1 p.Gly560Cys VAR_001669
10 COL1A1 p.Gly593Cys VAR_001673
11 COL1A1 p.Gly701Cys VAR_001677
12 COL1A1 p.Gly1010Ser VAR_001701
13 COL1A1 p.Gly1058Ser VAR_001709
14 COL1A1 p.Gly1061Ser VAR_001711
15 COL1A1 p.Gly197Arg VAR_063293
16 COL1A1 p.Gly257Arg VAR_063297
17 COL1A1 p.Gly338Cys VAR_063303
18 COL1A1 p.Gly353Ser VAR_063306
19 COL1A1 p.Gly683Ser VAR_063320
20 COL1A2 p.Gly634Val VAR_001871 rs72658147
21 COL1A2 p.Gly676Val VAR_001875 rs66883877
22 COL1A2 p.Gly751Ser VAR_001881 rs72658176
23 COL1A2 p.Gly766Val VAR_001883 rs72658183
24 COL1A2 p.Gly892Asp VAR_001892 rs72659304
25 COL1A2 p.Gly1012Ser VAR_001897 rs72659319
26 COL1A2 p.Gly1102Arg VAR_001902 rs67768540
27 COL1A2 p.Gly193Ser VAR_063343 rs72656370
28 COL1A2 p.Gly202Arg VAR_063344 rs72656376
29 COL1A2 p.Gly256Val VAR_063348 rs67525025
30 COL1A2 p.Gly325Glu VAR_063351 rs72656395
31 COL1A2 p.Gly754Cys VAR_063366 rs72658177

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg) single nucleotide variant Pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
2 COL1A2 NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys) single nucleotide variant Pathogenic rs121912903 GRCh37 Chromosome 7, 94047108: 94047108
3 COL1A2 COL1A2, EX26DEL deletion Pathogenic
4 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
5 COL1A2 NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) deletion Pathogenic rs74315103 GRCh38 Chromosome 7, 94427638: 94427646
6 COL1A2 COL1A2, IVS21DS, G-A, +5 deletion Pathogenic
7 COL1A2 COL1A2, IVS26DS, A-G, +3 single nucleotide variant Pathogenic
8 COL1A2 NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala) single nucleotide variant Pathogenic rs121912912 GRCh37 Chromosome 7, 94039778: 94039778
9 COL1A1 NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys) single nucleotide variant Pathogenic rs66721653 GRCh37 Chromosome 17, 48273026: 48273026
10 COL1A1 NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser) single nucleotide variant Pathogenic rs72653169 GRCh37 Chromosome 17, 48266281: 48266281
11 COL1A1 COL1A1, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
12 COL1A1 COL1A1, 3-BP DEL, 1964GGC deletion Pathogenic
13 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
14 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
15 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
16 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
17 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Likely pathogenic rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
18 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
19 COL1A2 NM_000089.3(COL1A2): c.2738G> T (p.Gly913Val) single nucleotide variant Likely pathogenic rs886042129 GRCh37 Chromosome 7, 94054493: 94054493
20 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
21 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738

Expression for Osteogenesis Imperfecta, Type Iv

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

Pathways for Osteogenesis Imperfecta, Type Iv

GO Terms for Osteogenesis Imperfecta, Type Iv

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.91 COL1A1 COL1A2 CRTAP FKBP10 PPIB TMEM38B
2 extracellular space GO:0005615 9.76 CD36 COL1A1 COL1A2 CRTAP GGT1 SERPINF1
3 collagen trimer GO:0005581 9.54 CD36 COL1A1 COL1A2
4 proteinaceous extracellular matrix GO:0005578 9.43 COL1A1 COL1A2 CRTAP DSPP SPARC WNT1
5 platelet alpha granule membrane GO:0031092 9.4 CD36 SPARC
6 macromolecular complex GO:0032991 9.32 CRTAP PPIB
7 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
8 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 CRTAP FKBP10 PPIB WNT1

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.63 CD36 COL1A1 COL1A2
2 skeletal system development GO:0001501 9.61 COL1A1 COL1A2 DSPP
3 ossification GO:0001503 9.5 COL1A1 DSPP SPARC
4 collagen fibril organization GO:0030199 9.48 COL1A1 COL1A2
5 extracellular matrix organization GO:0030198 9.46 COL1A1 COL1A2 DSPP SPARC
6 negative regulation of cell-substrate adhesion GO:0010812 9.4 COL1A1 WNT1
7 protein heterotrimerization GO:0070208 9.37 COL1A1 COL1A2
8 skin morphogenesis GO:0043589 9.26 COL1A1 COL1A2
9 bone development GO:0060348 9.13 PPIB SPARC WNT1
10 chaperone-mediated protein folding GO:0061077 8.8 CRTAP FKBP10 PPIB

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

id Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL1A2 DSPP
3 collagen binding GO:0005518 8.8 DSPP PPIB SPARC

Sources for Osteogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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