OPLL
MCID: OSS014
MIFTS: 49

Ossification of the Posterior Longitudinal Ligament of Spine (OPLL)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ossification of the Posterior Longitudinal Ligament of Spine

MalaCards integrated aliases for Ossification of the Posterior Longitudinal Ligament of Spine:

Name: Ossification of the Posterior Longitudinal Ligament of Spine 56 12 36 15 71
Ossification of the Posterior Longitudinal Ligament of the Spine 52 73 29 17
Opll 56 12 52 73
Ossification of Posterior Longitudinal Ligament of Spine 13
Ossification, Posterior Longitudinal Ligament Spine 39
Ossification of Posterior Longitudinal Ligament 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
common in japan and other asian populations
four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)
high incidence of diabetes mellitus noted in opll patients


HPO:

31
ossification of the posterior longitudinal ligament of spine:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060887
OMIM 56 602475
KEGG 36 H00431
MeSH 43 D017887
MedGen 41 C1865343
UMLS 71 C1865343

Summaries for Ossification of the Posterior Longitudinal Ligament of Spine

NIH Rare Diseases : 52 Ossification of the posterior longitudinal ligament of the spine (OPLL) is a condition that is characterized by the calcification of the soft tissues that connect the bones of the spine, which may lead to compression of the spinal cord . Many affected people do not have any signs or symptoms, while others may experience mild pain or numbness in the arms and/or legs. In some cases, OPLL may be associated with other conditions such as genetic diseases (i.e. hypophosphatemic rickets ), endocrine disorders (i.e. acromegaly , hypoparathyroidism ), spondyloarthropathies (i.e. ankylosing spondylitis ), and diffuse idiopathic skeletal hyperostosis . OPLL is most commonly diagnosed in men, people of Asian descent and people over age 50. The exact underlying cause is currently unknown; however, scientists suspect that it is a multifactorial condition that is influenced by several different genetic and environmental factors . The treatment of OPLL depends the severity of the condition and the signs and symptoms present in each person. If more conservative treatments such as NSAIDs are not effective, surgery may be necessary.

MalaCards based summary : Ossification of the Posterior Longitudinal Ligament of Spine, also known as ossification of the posterior longitudinal ligament of the spine, is related to spondylosis and diffuse idiopathic skeletal hyperostosis. An important gene associated with Ossification of the Posterior Longitudinal Ligament of Spine is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are TGF-beta signaling pathway and Phospholipase-C Pathway. Affiliated tissues include spinal cord, bone and skin, and related phenotypes are hyperreflexia and diabetes mellitus

Disease Ontology : 12 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.

OMIM : 56 Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016). (602475)

KEGG : 36 Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior longitudinal ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease.

UniProtKB/Swiss-Prot : 73 Ossification of the posterior longitudinal ligament of the spine: A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.

Wikipedia : 74 Ossification of the posterior longitudinal ligament (OPLL) is a process of fibrosis, calcification, and... more...

Related Diseases for Ossification of the Posterior Longitudinal Ligament of Spine

Diseases related to Ossification of the Posterior Longitudinal Ligament of Spine via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 spondylosis 30.5 TMTC1 BMP2
2 diffuse idiopathic skeletal hyperostosis 30.0 TMTC1 RSPO2 COL6A1 CCDC91
3 bone resorption disease 29.7 RUNX2 BMP2 BGLAP
4 osseous heteroplasia, progressive 29.0 RUNX2 ENPP1 BMP4 BMP2 BGLAP
5 body mass index quantitative trait locus 1 10.3
6 spondylosis, cervical 10.3
7 hypophosphatemic rickets, x-linked recessive 10.2
8 motor neuron disease 10.2
9 paraplegia 10.2
10 spondyloarthropathy 1 10.2
11 spinal disease 10.2
12 inflammatory spondylopathy 10.2
13 exostosis 10.2
14 hyperostosis 10.2
15 radiculopathy 10.2
16 spondylitis 10.2
17 spinal stenosis 10.2
18 spinal cord injury 10.2
19 arterial calcification, generalized, of infancy, 1 10.2
20 insulin-like growth factor i 10.2
21 osteomalacia 10.2
22 rickets 10.2
23 hypoparathyroidism 10.2
24 myopathy 10.2
25 dental pulp necrosis 10.1 BMP2 BGLAP
26 polyradiculopathy 10.1 TMTC1 BMP2
27 carpal tunnel syndrome 10.1
28 hypophosphatemic rickets, autosomal dominant 10.1
29 arachnoid cysts, intracranial 10.1
30 hypophosphatemic rickets, autosomal recessive, 1 10.1
31 yemenite deaf-blind hypopigmentation syndrome 10.1
32 hypophosphatemic rickets, autosomal recessive, 2 10.1
33 autosomal recessive hypophosphatemic rickets 10.1
34 scoliosis 10.1
35 spastic quadriplegia 10.1
36 dilated cardiomyopathy 10.1
37 uveitis 10.1
38 polyneuropathy 10.1
39 iritis 10.1
40 rectum cancer 10.1
41 enthesopathy 10.1
42 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
43 demyelinating polyneuropathy 10.1
44 brown-sequard syndrome 10.1
45 cerebrovascular disease 10.1
46 degenerative disc disease 10.1
47 iridocyclitis 10.1
48 atlanto-axial fusion 10.1
49 cerebrospinal fluid leak 10.1
50 osteofibrous dysplasia 10.1 BMP2 BGLAP

Graphical network of the top 20 diseases related to Ossification of the Posterior Longitudinal Ligament of Spine:



Diseases related to Ossification of the Posterior Longitudinal Ligament of Spine

Symptoms & Phenotypes for Ossification of the Posterior Longitudinal Ligament of Spine

Human phenotypes related to Ossification of the Posterior Longitudinal Ligament of Spine:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 diabetes mellitus 31 HP:0000819
3 increased bone mineral density 31 HP:0011001
4 abnormality of the vertebral column 31 HP:0000925
5 spinal cord compression 31 HP:0002176
6 ectopic ossification 31 HP:0011986
7 myelopathy 31 HP:0002196

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
spinal cord compression
myelopathy

Skeletal Spine:
ectopic ossification of posterior longitudinal spinal ligament (cervical and thoracic spine)

Skeletal:
increased bone mineral density

Clinical features from OMIM:

602475

MGI Mouse Phenotypes related to Ossification of the Posterior Longitudinal Ligament of Spine:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 BMP2 BMP4 COL11A2 ENPP1 RSPO2 RUNX2
2 hearing/vestibular/ear MP:0005377 9.35 BMP2 BMP4 COL11A2 ENPP1 RSPO2
3 skeleton MP:0005390 9.28 BGLAP BMP2 BMP4 COL11A2 COL6A1 ENPP1

Drugs & Therapeutics for Ossification of the Posterior Longitudinal Ligament of Spine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Fusion Rate of Anterior Cervical Discectomy and Fusion (ACDF) Using Cervios ChronOs™ and Bonion™ Completed NCT01615328 Phase 4
2 The CSM Trial: A Multicenter Study Comparing Ventral to Dorsal Surgery for Cervical Spondylotic Myelopathy Completed NCT00506558 Phase 3
3 Evaluation of Safety and Efficency of Custom-made Corpectomy Implants: UNiD 3D VBR Recruiting NCT02926391
4 Comparison of Anterior Cervical Anteriodisplacement Fusion and Corpectomy Decompression Fusion in Treatment of Ossification of the Posterior Longitudinal Ligament: A Conservative Treatment- Controlled, Randomized, Open Label Clinical Study Active, not recruiting NCT03312985
5 Comparison of Anterior Cervical Anteriodisplacement Fusion and Corpectomy Decompression Fusion in Treatment of Ossification of the Posterior Longitudinal Ligament: A Multi-center,Controlled, Randomized, Open Label Clinical Study Active, not recruiting NCT03591692
6 Effect of Cervical Decompression Surgery on Neuromuscular Control and Kinematics During Gait in Adult Patients With Cervical Spondylotic Myelopathy Enrolling by invitation NCT03513679

Search NIH Clinical Center for Ossification of the Posterior Longitudinal Ligament of Spine

Cochrane evidence based reviews: ossification of posterior longitudinal ligament

Genetic Tests for Ossification of the Posterior Longitudinal Ligament of Spine

Genetic tests related to Ossification of the Posterior Longitudinal Ligament of Spine:

# Genetic test Affiliating Genes
1 Ossification of the Posterior Longitudinal Ligament of the Spine 29

Anatomical Context for Ossification of the Posterior Longitudinal Ligament of Spine

MalaCards organs/tissues related to Ossification of the Posterior Longitudinal Ligament of Spine:

40
Spinal Cord, Bone, Skin, Medulla Oblongata, Bone Marrow, Small Intestine, Testes

Publications for Ossification of the Posterior Longitudinal Ligament of Spine

Articles related to Ossification of the Posterior Longitudinal Ligament of Spine:

(show top 50) (show all 1046)
# Title Authors PMID Year
1
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine. 61 56
27374772 2016
2
Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes. 61 56
27246988 2016
3
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. 56 61
25064007 2014
4
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. 56 61
16609882 2006
5
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. 61 56
12958705 2003
6
Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. 56 61
11289713 2001
7
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). 61 56
10453738 1999
8
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 61 56
9662402 1998
9
Genetic mapping of ossification of the posterior longitudinal ligament of the spine. 61 56
9585596 1998
10
Mapping of a gene responsible for twy (tip-toe walking Yoshimura), a mouse model of ossification of the posterior longitudinal ligament of the spine (OPLL). 56 61
9457678 1998
11
Genetic studies on ossification of the posterior longitudinal ligament of the spine. 56 61
2513651 1989
12
A radiological population study on the ossification of the posterior longitudinal ligament in the spine. 56 61
3494437 1987
13
Ossification of the posterior longitudinal ligament of the spine. 61 56
6423334 1984
14
Calcification and ossification of posterior longitudinal ligament of spine: its role in secondary narrowing of spinal canal and cord compression. 56
6813778 1982
15
Analysis of the reciprocal changes in upper cervical profile and the risk factors for increasing cervical sagittal vertical axis after laminoplasty for ossification of the posterior longitudinal ligament of the cervical spine. 61
32222651 2020
16
The radiological characteristics associated with the development of myelopathy due to ossification of the posterior longitudinal ligaments at each responsible level based on spinal cord evoked potentials. 61
32298951 2020
17
Choice of the Open Side in Unilateral Open-Door Laminoplasty for Cervical Ossification of the Posterior Longitudinal Ligament. 61
31923132 2020
18
Surgical technique modification of circumferential decompression for thoracic spinal stenosis and clinical outcome. 61
32552046 2020
19
A novel technique as a revision surgery for failed ACCF in the treatment of cervical myelopathy due to ossification of the posterior longitudinal ligament (OPLL). 61
32522645 2020
20
Ossification of the Posterior Longitudinal Ligament in Cervical Spine Cases Trends in Surgical Treatments and Outcomes in the US from 2005 to 2013. 61
32510296 2020
21
Methylation-mediated down-regulation of microRNA-497-195 cluster confers osteogenic differentiation in ossification of the posterior longitudinal ligament of the spine via ADORA2A. 61
32432317 2020
22
Posterior decompression and fusion versus laminoplasty for cervical ossification of posterior longitudinal ligament: a systematic review and meta-analysis. 61
32535873 2020
23
Effect of K-line on posterior cervical surgery in patients with posterior longitudinal ligament ossification. 61
32564230 2020
24
The roles of autophagy in osteogenic differentiation in rat ligamentum fibroblasts: Evidence and possible implications. 61
32510740 2020
25
[Meta-analysis of calcium chemotherapeutic effect of anterior cervical subtotal vertebroplasty and posterior laminoplasty]. 61
32573167 2020
26
Influence of unintended dural tears on postoperative outcomes in lumbar surgery patients: A multicenter observational study with propensity scoring. 61
32544720 2020
27
Anterior controllable antidisplacement and fusion surgery for the treatment of extensive cervico-thoracic ossification of posterior longitudinal ligament with severe myelopathy: case report and literature review. 61
32401059 2020
28
Risk factors for progression of ossification of the posterior longitudinal ligament in asymptomatic subjects. 61
32384273 2020
29
High incidence of venous thromboembolism after acute cervical spinal cord injury in patients with ossification of the posterior longitudinal ligament. 61
32401638 2020
30
Analysis of the spinal cord angle for severe cervical ossification of the posterior longitudinal ligament: comparison between anterior controllable antedisplacement and fusion (ACAF) and posterior laminectomy. 61
31797138 2020
31
The relationship between preoperative cervical sagittal balance and clinical outcome of laminoplasty treated cervical ossification of the posterior longitudinal ligament patients. 61
32474225 2020
32
Integrated miRNA-mRNA network revealing the key molecular characteristics of ossification of the posterior longitudinal ligament. 61
32481304 2020
33
One-stage posterior surgery with intraoperative ultrasound assistance for thoracic myelopathy with simultaneous ossification of the posterior longitudinal ligament and ligamentum flavum at the same segment: a minimum 5-year follow-up study. 61
32445802 2020
34
Realization of Hollow-Core Photonic-Crystal Fiber Optic Gyro Based on Low-Noise Multi-Frequency Lasers with Intermediate-Frequency Difference. 61
32429391 2020
35
Safety and Efficacy of a Novel Anterior Decompression Technique for Ossification of Posterior Longitudinal Ligament of the Cervical Spine. 61
31688427 2020
36
Bone strength of the proximal femur in healthy subjects with ossification of the posterior longitudinal ligament. 61
31814062 2020
37
The R-line: A New Imaging Index for Decision Making Regarding C2 Lamina Decompression in Cervical Ossification of the Posterior Longitudinal Ligament. 61
32395452 2020
38
Prevalence of Ossification of Posterior Longitudinal Ligament in Patients With Degenerative Cervical Myelopathy: Cervical Spine 3D CT Observations in 7210 Cases. 61
32355140 2020
39
Cyclic tensile strain facilitates ossification of the cervical posterior longitudinal ligament via increased Indian hedgehog signaling. 61
32350355 2020
40
Clinical Outcomes of Intraoperative Contrast-Enhanced Ultrasound Compared with Intraoperative Neurophysiological Monitoring During Circumferential Decompression for Myelopathy Associated with Thoracic-Ossification of the Posterior Longitudinal Ligament. 61
32345957 2020
41
Clinical characteristics in patients with ossification of the posterior longitudinal ligament: A prospective multi-institutional cross-sectional study. 61
32218490 2020
42
A novel anterior decompression technique for kyphosis line (K-line) ossification of posterior longitudinal ligament (OPLL): vertebral body sliding osteotomy. 61
32309657 2020
43
Comparison of Perioperative Complications in Anterior Decompression with Fusion and Posterior Decompression with Fusion for Cervical Ossification of the Posterior Longitudinal Ligament: Propensity Score Matching Analysis Using a Nation-Wide Inpatient Database. 61
32150133 2020
44
Anterior selective stabilization combined with laminoplasty for cervical myelopathy due to massive ossification of the posterior longitudinal ligament: report of early outcomes in 14 patients. 61
32168487 2020
45
Clinical outcome and radiological findings after cervical open door laminoplasty with titanium basket. 61
31987631 2020
46
Comparison of Anterior Controllable Antedisplacement and Fusion (ACAF) with Posterior Laminoplasty in the Treatment of Multilevel Cervical Ossification of the Posterior Longitudinal Ligament: A Prospective, Randomized and Control Study with at Least One-year Follow Up. 61
32097261 2020
47
How Does Ossification of Posterior Longitudinal Ligament Progress in Conservatively Managed Patients? 61
31513119 2020
48
Influence of extending expansive open-door laminoplasty to C1 and C2 on cervical sagittal parameters. 61
32024507 2020
49
Reoperation for Late Neurological Deterioration After Laminoplasty in Individuals with Degenerative Cervical Myelopathy: Comparison of Cases of Cervical Spondylosis and Ossification of the Posterior Longitudinal Ligament. 61
32032323 2020
50
Three-Dimensional Analysis of the Radiological Risk Factors for Progression of the Thoracic Ossification of the Posterior Longitudinal Ligament After Posterior Decompression and Stabilization. 61
31706973 2020

Variations for Ossification of the Posterior Longitudinal Ligament of Spine

UniProtKB/Swiss-Prot genetic disease variations for Ossification of the Posterior Longitudinal Ligament of Spine:

73
# Symbol AA change Variation ID SNP ID
1 ENPP1 p.Leu91Pro VAR_014141
2 ENPP1 p.Ser287Phe VAR_014143 rs190947144

Expression for Ossification of the Posterior Longitudinal Ligament of Spine

Search GEO for disease gene expression data for Ossification of the Posterior Longitudinal Ligament of Spine.

Pathways for Ossification of the Posterior Longitudinal Ligament of Spine

Pathways related to Ossification of the Posterior Longitudinal Ligament of Spine according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Ossification of the Posterior Longitudinal Ligament of Spine according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 GDF2 COL6A1 COL11A2 BMP4 BMP2
2
Show member pathways
12.32 COL6A1 COL11A2 BMP4 BMP2
3 10.9 RUNX2 BMP4 BMP2 BGLAP
4 10.72 BMP4 BMP2
5 10.6 BMP4 BMP2
6 10.26 GDF2 COL6A1 COL11A2 BMP4 BMP2

GO Terms for Ossification of the Posterior Longitudinal Ligament of Spine

Cellular components related to Ossification of the Posterior Longitudinal Ligament of Spine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 RSPO2 IL15RA GDF2 ENPP1 COL6A1 COL11A2
2 endoplasmic reticulum lumen GO:0005788 9.46 COL6A1 COL11A2 BMP4 BGLAP
3 extracellular space GO:0005615 9.28 MIR10A IL15RA GDF2 ENPP1 COL6A1 COL11A2

Biological processes related to Ossification of the Posterior Longitudinal Ligament of Spine according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell proliferation GO:0001938 9.77 GDF2 BMP4 BMP2
2 skeletal system development GO:0001501 9.77 RUNX2 COL11A2 BMP4 BMP2 BGLAP
3 cellular response to growth factor stimulus GO:0071363 9.76 BMP4 BMP2 BGLAP
4 BMP signaling pathway GO:0030509 9.76 RUNX2 GDF2 BMP4 BMP2
5 positive regulation of osteoblast differentiation GO:0045669 9.73 RUNX2 BMP4 BMP2
6 cartilage development GO:0051216 9.73 GDF2 COL11A2 BMP4 BMP2
7 SMAD protein signal transduction GO:0060395 9.72 GDF2 BMP4 BMP2
8 odontogenesis of dentin-containing tooth GO:0042475 9.71 RUNX2 BMP4 BMP2
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 GDF2 BMP4 BMP2
10 bone mineralization GO:0030282 9.69 RSPO2 BMP2 BGLAP
11 embryonic hindlimb morphogenesis GO:0035116 9.65 RSPO2 BMP4
12 telencephalon development GO:0021537 9.64 BMP4 BMP2
13 endochondral ossification GO:0001958 9.64 RUNX2 BMP4
14 cardiac muscle cell differentiation GO:0055007 9.63 BMP4 BMP2
15 regulation of bone mineralization GO:0030500 9.63 ENPP1 BGLAP
16 osteoblast development GO:0002076 9.62 RUNX2 BGLAP
17 positive regulation of endothelial cell differentiation GO:0045603 9.62 GDF2 BMP4
18 chondrocyte differentiation GO:0002062 9.62 RUNX2 COL11A2 BMP4 BMP2
19 epithelial tube branching involved in lung morphogenesis GO:0060441 9.61 RSPO2 BMP4
20 positive regulation of ossification GO:0045778 9.61 BMP4 BMP2
21 pathway-restricted SMAD protein phosphorylation GO:0060389 9.6 GDF2 BMP2
22 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.58 RUNX2 BMP2
23 positive regulation of cartilage development GO:0061036 9.58 GDF2 BMP4 BMP2
24 telencephalon regionalization GO:0021978 9.57 BMP4 BMP2
25 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.49 BMP4 BMP2
26 BMP signaling pathway involved in heart induction GO:0003130 9.48 BMP4 BMP2
27 cellular response to BMP stimulus GO:0071773 9.46 RUNX2 GDF2 BMP4 BMP2
28 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.43 RUNX2 BMP4 BMP2
29 ossification GO:0001503 9.35 RUNX2 GDF2 BMP4 BMP2 BGLAP
30 osteoblast differentiation GO:0001649 9.23 RUNX2 RSPO2 GDF2 COL6A1 COL11A2 BMP4

Molecular functions related to Ossification of the Posterior Longitudinal Ligament of Spine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 GDF2 BMP4 BMP2
2 BMP receptor binding GO:0070700 8.96 BMP4 BMP2
3 co-receptor binding GO:0039706 8.62 BMP4 BMP2

Sources for Ossification of the Posterior Longitudinal Ligament of Spine

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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