DI
MCID: DNT011
MIFTS: 52

Dentinogenesis Imperfecta (DI)

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

Aliases & Classifications for Dentinogenesis Imperfecta

MalaCards integrated aliases for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 12 74 52 25 58 29 54 6 43 15 71
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 52 58 71
Hereditary Opalescent Dentin 25 54 71
Dgi 25 58
Opalescent Teeth Without Osteogenesis Imperfecta 58
Non-Syndromic Dentinogenesis Imperfecta 58
Opalescent Teeth Without Oi 58
Opalescent Dentin 71
Non-Syndromic Dgi 58
Capdepont Teeth 52
Dgi Without Oi 58
Di 58

Characteristics:

Orphanet epidemiological data:

58
dentinogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:4154
MeSH 43 D003811
NCIt 49 C84667
SNOMED-CT 67 196286005
ICD10 32 K00.5
MESH via Orphanet 44 D003811
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0011436 C2973527
Orphanet 58 ORPHA49042
UMLS 71 C0011436 C0205730 C2973527 more

Summaries for Dentinogenesis Imperfecta

NIH Rare Diseases : 52 Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. According to the original classification, there are three types of dentinogenesis imperfecta: Type I: occurs in people who have osteogenesis imperfecta , a genetic condition in which bones are brittle, causing them to break easily. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2 . Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta. Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.

MalaCards based summary : Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to dentinogenesis imperfecta 1 and osteogenesis imperfecta, type i. An important gene associated with Dentinogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drug Zoledronic Acid has been mentioned in the context of this disorder. Affiliated tissues include Tooth, bone and salivary gland, and related phenotypes are obliteration of the pulp chamber and grayish enamel

Genetics Home Reference : 25 Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.

Wikipedia : 74 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Related Diseases for Dentinogenesis Imperfecta

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
Rare Disease with Dentinogenesis Imperfecta

Diseases related to Dentinogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 1 35.0 DSPP DMP1
2 osteogenesis imperfecta, type i 33.2 CRTAP COL1A2 COL1A1
3 dentin dysplasia, type ii 33.2 SPP1 DSPP DMP1
4 osteogenesis imperfecta, type v 32.6 IFITM5 COL1A2 COL1A1
5 osteogenesis imperfecta, type viii 32.5 P3H1 CRTAP
6 osteogenesis imperfecta, type xii 32.3 SP7 SERPINF1 FKBP10
7 osteogenesis imperfecta, type vi 31.8 SERPINF1 IFITM5 COL1A2 COL1A1
8 dentin dysplasia 31.5 SPP1 DSPP DMP1
9 col1a1/2 osteogenesis imperfecta 30.9 COL1A2 COL1A1
10 osteogenesis imperfecta, type ii 30.8 PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1
11 tooth resorption 30.6 SPP1 DSPP
12 rickets 30.5 SPP1 DSPP DMP1
13 bone resorption disease 30.3 SPP1 SP7 COL1A2 COL1A1
14 osteogenesis imperfecta, type iv 30.1 TMEM38B SP7 SERPINF1 PPIB P3H1 FKBP10
15 scoliosis 29.5 PLOD2 FKBP10 COL1A2 COL1A1
16 osteoporosis 28.8 SPP1 SP7 P3H1 DMP1 CRTAP COL1A2
17 osteogenesis imperfecta, type iii 28.3 SERPINH1 SERPINF1 PPIB PLOD2 P3H1 FKBP10
18 odontochondrodysplasia 28.0 TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
19 brittle bone disorder 27.2 TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
20 dentinogenesis imperfecta, shields type iii 13.0
21 dentinogenesis imperfecta type 2 12.9
22 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 12.9
23 cortical defects, wormian bones, and dentinogenesis imperfecta 12.5
24 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.4
25 rare disease with dentinogenesis imperfecta 12.4
26 malformative syndrome with dentinogenesis imperfecta 12.4
27 hereditary dentin defect 11.7
28 osteogenesis imperfecta, type xi 11.7
29 osteogenesis imperfecta, type x 11.6
30 osteogenesis imperfecta, type vii 11.5
31 osteogenesis imperfecta, type ix 11.4
32 osteogenesis imperfecta, type xix 11.4
33 bruck syndrome 2 11.4
34 osteogenesis imperfecta, type xiii 11.4
35 osteogenesis imperfecta, type xiv 11.4
36 osteogenesis imperfecta, type xv 11.4
37 osteogenesis imperfecta, type xvi 11.4
38 osteogenesis imperfecta, type xvii 11.4
39 osteogenesis imperfecta, type xviii 11.4
40 osteogenesis imperfecta, type xx 11.4
41 amelogenesis imperfecta 10.6
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
43 hair whorl 10.5
44 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
45 larsen-like syndrome 10.4 COL1A2 COL1A1
46 ehlers-danlos syndrome, arthrochalasia type, 2 10.4 COL1A2 COL1A1
47 type i ehlers-danlos syndrome 10.4 COL1A2 COL1A1
48 scleroderma, familial progressive 10.4 COL1A2 COL1A1
49 periodontitis, aggressive, 1 10.4
50 sensorineural hearing loss 10.4

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



Diseases related to Dentinogenesis Imperfecta

Symptoms & Phenotypes for Dentinogenesis Imperfecta

Human phenotypes related to Dentinogenesis Imperfecta:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obliteration of the pulp chamber 58 31 hallmark (90%) Very frequent (99-80%) HP:0006350
2 grayish enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000683
3 yellow-brown discoloration of the teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006286
4 hypocalcification of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0011084
5 fragile teeth 58 31 frequent (33%) Frequent (79-30%) HP:0025124
6 shell teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000694
7 generalized hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006282
8 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
9 persistence of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006335
10 selective tooth agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001592
11 finger joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0006094
12 hyperextensibility at elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0010485
13 knee joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0045086
14 short dental roots 58 31 occasional (7.5%) Occasional (29-5%) HP:0006336
15 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
16 prolonged bleeding time 58 31 very rare (1%) Very rare (<4-1%) HP:0003010
17 blue sclerae 58 31 very rare (1%) Very rare (<4-1%) HP:0000592
18 joint hypermobility 58 Frequent (79-30%)
19 abnormality of dentin 58 Frequent (79-30%)
20 abnormality of the dental pulp 58 Frequent (79-30%)
21 abnormality of the dental root 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1
2 cardiovascular system MP:0005385 10.06 BMP1 COL1A1 COL1A2 DMP1 FKBP10 SERPINF1
3 homeostasis/metabolism MP:0005376 10 BMP1 COL1A1 COL1A2 CREB3L1 DMP1 FKBP10
4 craniofacial MP:0005382 9.97 BMP1 COL1A1 DMP1 FKBP10 IFITM5 PPIB
5 limbs/digits/tail MP:0005371 9.85 BMP1 COL1A1 COL1A2 DMP1 FKBP10 IFITM5
6 mortality/aging MP:0010768 9.7 BMP1 COL1A1 COL1A2 FKBP10 IFITM5 PLOD2
7 skeleton MP:0005390 9.47 BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1

Drugs & Therapeutics for Dentinogenesis Imperfecta

Drugs for Dentinogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved 118072-93-8 68740

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
2 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
3 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Recruiting NCT03810859
4 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
5 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
6 Dental Malocclusion and Craniofacial Development in OI Active, not recruiting NCT02934451
7 Cross-Linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology Active, not recruiting NCT02531087

Search NIH Clinical Center for Dentinogenesis Imperfecta

Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

Genetic tests related to Dentinogenesis Imperfecta:

# Genetic test Affiliating Genes
1 Dentinogenesis Imperfecta 29

Anatomical Context for Dentinogenesis Imperfecta

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

40
Bone, Salivary Gland, Skin, Eye, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
# Tissue Anatomical CompartmentCell Relevance
1 Tooth Dentin Odontoblasts Affected by disease

Publications for Dentinogenesis Imperfecta

Articles related to Dentinogenesis Imperfecta:

(show top 50) (show all 552)
# Title Authors PMID Year
1
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. 61 52
26731255 2015
2
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. 52 61
25118030 2015
3
Management of dentinogenesis imperfecta: a review of two case reports. 52 61
23649579 2013
4
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. 52 61
21323831 2011
5
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. 54 61
20087402 2010
6
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. 61 54
20146806 2010
7
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. 61 54
20121932 2009
8
[Family tree and restoration method of hereditary opalescent dentin: a case report]. 61 54
19927739 2009
9
[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. 54 61
19760002 2009
10
Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. 54 61
19348940 2009
11
Genetic evidence for key roles of decorin and biglycan in dentin mineralization. 61 54
19379665 2009
12
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. 61 54
18797159 2009
13
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 54 61
19131317 2009
14
[A case report of fixed restoration of hereditary opalescent dentin]. 54 61
19186872 2008
15
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. 61 54
19026876 2008
16
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 54 61
18521831 2008
17
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. 61 54
19029076 2008
18
Dentinogenesis imperfecta: a review and case report of a family over four generations. 54 61
19075443 2008
19
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. 54 61
18499550 2008
20
Dentinogenesis imperfecta: a case report. 61 54
18603736 2008
21
Dentinogenesis imperfecta: the importance of early treatment. 61 54
18618042 2008
22
Dentinogenesis imperfecta type II: an affected family saga. 61 54
17928732 2007
23
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. 61 54
17686168 2007
24
Hereditary dentin defects. 54 61
17452557 2007
25
Developmental biology and genetics of dental malformations. 61 54
17552940 2007
26
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. 61 54
18604025 2007
27
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. 61 54
17118335 2007
28
Molecular basis of human dentin diseases. 54 61
16955410 2006
29
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. 54 61
17026502 2006
30
Phenotypes and genotypes in 2 DGI families with different DSPP mutations. 54 61
16920545 2006
31
Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects. 61 54
16674659 2006
32
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. 61 54
16567553 2006
33
SEM-morphology in dentinogenesis imperfecta type II: microscopic anatomy and efficacy of a dentine bonding system. 61 54
16646639 2006
34
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 61 54
15592686 2005
35
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 61 54
15690376 2005
36
Hereditary opalescent dentin--a case report. 61 54
15573663 2004
37
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. 61 54
15241678 2004
38
Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development. 54 61
14966118 2004
39
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 61 54
14758537 2004
40
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. 54 61
12721295 2003
41
Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases. 61 54
12718392 2003
42
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. 61 54
12590186 2003
43
Dental structural diseases mapping to human chromosome 4q21. 54 61
12952210 2003
44
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. 54 61
12354781 2002
45
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. 54 61
12199890 2002
46
MEPE/OF45, a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. 61 54
12489176 2002
47
Odontoblast dysfunction in osteogenesis imperfecta: an LM, SEM, and ultrastructural study. 54 61
12489189 2002
48
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. 54 61
11286811 2001
49
Reduced expression of dentin sialophosphoprotein is associated with dysplastic dentin in mice overexpressing transforming growth factor-beta 1 in teeth. 61 54
11116156 2001
50
Soundbites. 61 54
11175770 2001

Variations for Dentinogenesis Imperfecta

ClinVar genetic disease variations for Dentinogenesis Imperfecta:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)SNV Pathogenic 425606 rs72651645 17:48268824-48268824 17:50191463-50191463
2 COL1A2 NM_000089.3(COL1A2):c.2027G>A (p.Gly676Asp)SNV Likely pathogenic 548666 rs66883877 7:94048811-94048811 7:94419499-94419499

Expression for Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for Dentinogenesis Imperfecta

GO Terms for Dentinogenesis Imperfecta

Cellular components related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 SPP1 SERPINH1 SERPINF1 CRTAP COL1A2 COL1A1
2 extracellular region GO:0005576 9.97 SPP1 SERPINF1 P3H1 DSPP DMP1 CRTAP
3 extracellular matrix GO:0031012 9.67 DSPP DMP1 COL1A2 COL1A1
4 collagen-containing extracellular matrix GO:0062023 9.65 SERPINH1 SERPINF1 P3H1 COL1A2 COL1A1
5 endoplasmic reticulum GO:0005783 9.65 TMEM38B SERPINH1 PPIB PLOD2 P3H1 FKBP10
6 collagen trimer GO:0005581 9.58 SERPINH1 COL1A2 COL1A1
7 endoplasmic reticulum lumen GO:0005788 9.28 SPP1 SERPINH1 PPIB P3H1 FKBP10 DMP1
8 collagen type I trimer GO:0005584 9.16 COL1A2 COL1A1

Biological processes related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.73 DSPP COL1A2 COL1A1 BMP1
2 bone development GO:0060348 9.67 TMEM38B PPIB P3H1
3 bone mineralization GO:0030282 9.65 TMEM38B IFITM5 COL1A2
4 osteoblast differentiation GO:0001649 9.56 SPP1 SP7 CREB3L1 COL1A1
5 extracellular matrix organization GO:0030198 9.55 SPP1 DSPP DMP1 COL1A2 COL1A1
6 collagen metabolic process GO:0032963 9.54 P3H1 COL1A2
7 biomineral tissue development GO:0031214 9.54 SPP1 DSPP DMP1
8 skin morphogenesis GO:0043589 9.52 COL1A2 COL1A1
9 collagen biosynthetic process GO:0032964 9.51 SERPINH1 COL1A1
10 chaperone-mediated protein folding GO:0061077 9.5 PPIB P3H1 CRTAP
11 extracellular matrix constituent secretion GO:0070278 9.46 TMEM38B CREB3L1
12 negative regulation of post-translational protein modification GO:1901874 9.4 P3H1 CRTAP
13 collagen fibril organization GO:0030199 9.26 SERPINH1 CRTAP COL1A2 COL1A1
14 ossification GO:0001503 9.1 TMEM38B SPP1 DSPP DMP1 COL1A1 BMP1

Molecular functions related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 DSPP COL1A2 COL1A1
2 L-ascorbic acid binding GO:0031418 9.16 PLOD2 P3H1
3 collagen binding GO:0005518 9.02 SERPINH1 PPIB P3H1 DSPP CRTAP
4 platelet-derived growth factor binding GO:0048407 8.96 COL1A2 COL1A1

Sources for Dentinogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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