OPLL
MCID: OSS014
MIFTS: 48

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 brown-sequard syndrome. 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 91)
# Related Disease Score Top Affiliating Genes
1 spondylosis 30.5 TMTC1 BMP2 ADAMTS1
2 brown-sequard syndrome 30.4 TMTC1 ADAMTS1
3 spinal disease 30.3 TMTC1 BMP2
4 bone resorption disease 29.9 RUNX2 BMP2 BGLAP
5 diffuse idiopathic skeletal hyperostosis 29.3 TMTC1 RSPO2 COL6A1 COL11A2 CCDC91 BMP2
6 osseous heteroplasia, progressive 29.0 RUNX2 ENPP1 BMP4 BMP2 BGLAP
7 body mass index quantitative trait locus 1 10.3
8 spondylosis, cervical 10.3
9 spinal cord injury 10.3
10 hypophosphatemic rickets, x-linked recessive 10.2
11 motor neuron disease 10.2
12 paraplegia 10.2
13 arterial calcification, generalized, of infancy, 1 10.2
14 insulin-like growth factor i 10.2
15 osteomalacia 10.2
16 rickets 10.2
17 hypoparathyroidism 10.2
18 myopathy 10.2
19 spondyloarthropathy 1 10.2
20 inflammatory spondylopathy 10.2
21 exostosis 10.2
22 hyperostosis 10.2
23 radiculopathy 10.2
24 spondylitis 10.2
25 spinal stenosis 10.2
26 dental pulp necrosis 10.1 BMP2 BGLAP
27 polyradiculopathy 10.1 TMTC1 BMP2
28 dental pulp disease 10.1 BMP2 BGLAP
29 carpal tunnel syndrome 10.1
30 hypophosphatemic rickets, autosomal dominant 10.1
31 arachnoid cysts, intracranial 10.1
32 hypophosphatemic rickets, autosomal recessive, 1 10.1
33 yemenite deaf-blind hypopigmentation syndrome 10.1
34 hypophosphatemic rickets, autosomal recessive, 2 10.1
35 autosomal recessive hypophosphatemic rickets 10.1
36 scoliosis 10.1
37 spastic quadriplegia 10.1
38 dilated cardiomyopathy 10.1
39 uveitis 10.1
40 polyneuropathy 10.1
41 iritis 10.1
42 rectum cancer 10.1
43 enthesopathy 10.1
44 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
45 demyelinating polyneuropathy 10.1
46 cerebrovascular disease 10.1
47 degenerative disc disease 10.1
48 iridocyclitis 10.1
49 atlanto-axial fusion 10.1
50 cerebrospinal fluid leak 10.1

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 spinal cord compression 31 HP:0002176
4 increased bone mineral density 31 HP:0011001
5 abnormality of the vertebral column 31 HP:0000925
6 myelopathy 31 HP:0002196
7 ectopic ossification 31 HP:0011986

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 9.43 BMP2 BMP4 COL11A2 ENPP1 RSPO2 RUNX2
2 hearing/vestibular/ear MP:0005377 9.02 BMP2 BMP4 COL11A2 ENPP1 RSPO2

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, Testes, Brain

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 1015)
# 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. 61 56
25064007 2014
4
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. 61 56
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. 61 56
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). 61 56
9457678 1998
11
Genetic studies on ossification of the posterior longitudinal ligament of the spine. 61 56
2513651 1989
12
A radiological population study on the ossification of the posterior longitudinal ligament in the spine. 61 56
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
Outcomes of Surgery for Thoracic Myelopathy Owing to Thoracic Ossification of The Ligamentum Flavum in a Nationwide Multicenter Prospectively Collected Study in 223 Patients: Is Instrumented Fusion Necessary? 61
31415461 2020
16
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
17
Influence of extending expansive open-door laminoplasty to C1 and C2 on cervical sagittal parameters. 61
32024507 2020
18
The Effect of an Educational and Interactive Informed Consent Process on Patients With Cervical Spondylotic Myelopathy Caused by Ossification of the Posterior Longitudinal Ligament. 61
31513103 2020
19
How Does Ossification of Posterior Longitudinal Ligament Progress in Conservatively Managed Patients? 61
31513119 2020
20
Comparison of anterior decompression with fusion and posterior decompression with fusion for cervical spondylotic myelopathy-A systematic review and meta-analysis. 61
32008876 2020
21
Clinical outcome and radiological findings after cervical open door laminoplasty with titanium basket. 61
31987631 2020
22
Surgical Outcomes According to Dekyphosis in Patients with Ossification of the Posterior Longitudinal Ligament in the Thoracic Spine. 61
31079447 2020
23
Development and Achievement of Cervical Laminoplasty and Related Studies on Cervical Myelopathy. 61
32039291 2020
24
A systematic review and meta-analysis comparing anterior decompression with fusion and posterior laminoplasty for cervical ossification of the posterior longitudinal ligament. 61
30905611 2020
25
Choice of the Open Side in Unilateral Open-door Laminoplasty for Cervical Ossification of the Posterior Longitudinal Ligament. 61
31923132 2020
26
Indication for anterior spinal cord decompression via a posterolateral approach for the treatment of ossification of the posterior longitudinal ligament in the thoracic spine: a prospective cohort study. 61
31290027 2020
27
The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament. 61
31939624 2020
28
Clinical characteristics of patients with thoracic myelopathy caused by ossification of the posterior longitudinal ligament. 61
31290005 2020
29
Serum oxidative stress influences neurological recovery after surgery to treat acutely worsening symptoms of compression myelopathy: a cross-sectional human study. 61
31810443 2019
30
Patterns of short-term and long-term surgical outcomes and prognostic factors for cervical ossification of the posterior longitudinal ligament between anterior cervical corpectomy and fusion and posterior laminoplasty. 61
30610499 2019
31
Bone strength of the proximal femur in healthy subjects with ossification of the posterior longitudinal ligament. 61
31814062 2019
32
Cervical Ossification of the Posterior Longitudinal Ligament: A Computed Tomography-Based Epidemiological Study of 2917 Patients. 61
31819847 2019
33
A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament. 61
31831033 2019
34
Long Non-coding RNA XIST May Influence Cervical Ossification of the Posterior Longitudinal Ligament Through Regulation of miR-17-5P/AHNAK/BMP2 Signaling Pathway. 61
31511959 2019
35
Surgery-related predictable risk factors influencing postoperative clinical outcomes for thoracic myelopathy caused by ossification of the posterior longitudinal ligament: a multicenter retrospective study. 61
31881534 2019
36
Long-term Outcome of Anterior Cervical Decompression With Fusion for Cervical Ossification of Posterior Longitudinal Ligament Including Postsurgical Remnant Ossified Spinal Lesion. 61
31361728 2019
37
Surgical management of ossification of the posterior longitudinal ligament in the cervical spine. 61
31883815 2019
38
The anterior versus posterior approach for the treatment of ossification of the posterior longitudinal ligament in the cervical spine: A systematic review and meta-analysis. 61
31809249 2019
39
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 2019
40
Progression of Cervical Ossification of Posterior Longitudinal Ligament After Laminoplasty or Laminectomy With Posterior Fixation. 61
31569177 2019
41
Impact of K-Line (-) in the Neck-Flexion Position on Patient-reported Outcomes After Cervical Laminoplasty For Patients With Ossification of the Posterior Longitudinal Ligament. 61
31573989 2019
42
Surgical Reconstruction Using a Flanged Mesh Cage without Plating for Cervical Spondylotic Myelopathy and a Symptomatic Ossified Posterior Longitudinal Ligament. 61
31392873 2019
43
Safety and Efficacy of a Novel Anterior Decompression Technique for Ossification of Posterior Longitudinal Ligament of the Cervical Spine. 61
31688427 2019
44
Clinical Features of Thoracic Myelopathy: A Single-Center Study. 61
31875198 2019
45
Connection of discontinuous segments in early functional recovery from thoracic ossification of the posterior longitudinal ligament treated with posterior instrumented surgery. 61
31703197 2019
46
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 2019
47
Skip corpectomy and fusion (SCF) versus anterior controllable antedisplacement and fusion (ACAF): which is better for patients with multilevel cervical OPLL? 61
30953139 2019
48
National Trends and Complications in the Surgical Management of Ossification of the Posterior Longitudinal Ligament (OPLL). 61
31232979 2019
49
[Thoracic spinal stenosis : Etiology, pathogenesis, and treatment]. 61
31041462 2019
50
Endoplasmic reticulum stress regulates mechanical stress-induced ossification of posterior longitudinal ligament. 61
31325051 2019

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
12.55 GDF2 COL6A1 COL11A2 BMP4 BMP2
2
Show member pathways
11.67 COL6A1 COL11A2 BMP4 BMP2 ADAMTS1
3 10.94 RUNX2 ENPP1 ADAMTS1
4 10.77 BMP4 BMP2
5 10.66 BMP4 BMP2
6 10.46 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 space GO:0005615 9.61 MIR10A IL15RA GDF2 ENPP1 COL6A1 COL11A2
2 endoplasmic reticulum lumen GO:0005788 9.46 COL6A1 COL11A2 BMP4 BGLAP
3 extracellular region GO:0005576 9.32 RSPO2 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 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.96 RUNX2 GDF2 BMP4 BMP2
2 positive regulation of endothelial cell proliferation GO:0001938 9.78 GDF2 BMP4 BMP2
3 cellular response to growth factor stimulus GO:0071363 9.77 BMP4 BMP2 BGLAP
4 skeletal system development GO:0001501 9.77 RUNX2 COL11A2 BMP4 BMP2 BGLAP
5 BMP signaling pathway GO:0030509 9.76 RUNX2 GDF2 BMP4 BMP2
6 positive regulation of osteoblast differentiation GO:0045669 9.75 RUNX2 BMP4 BMP2
7 regulation of MAPK cascade GO:0043408 9.74 GDF2 BMP4 BMP2
8 SMAD protein signal transduction GO:0060395 9.73 GDF2 BMP4 BMP2
9 cartilage development GO:0051216 9.73 GDF2 COL11A2 BMP4 BMP2
10 odontogenesis of dentin-containing tooth GO:0042475 9.72 RUNX2 BMP4 BMP2
11 cell development GO:0048468 9.71 GDF2 BMP4 BMP2
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 GDF2 BMP4 BMP2
13 bone mineralization GO:0030282 9.69 RSPO2 BMP2 BGLAP
14 telencephalon development GO:0021537 9.65 BMP4 BMP2
15 embryonic hindlimb morphogenesis GO:0035116 9.65 RSPO2 BMP4
16 endochondral ossification GO:0001958 9.65 RUNX2 BMP4
17 cardiac muscle cell differentiation GO:0055007 9.64 BMP4 BMP2
18 regulation of bone mineralization GO:0030500 9.64 ENPP1 BGLAP
19 osteoblast development GO:0002076 9.63 RUNX2 BGLAP
20 positive regulation of endothelial cell differentiation GO:0045603 9.63 GDF2 BMP4
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.62 RSPO2 BMP4
22 positive regulation of ossification GO:0045778 9.62 BMP4 BMP2
23 chondrocyte differentiation GO:0002062 9.62 RUNX2 COL11A2 BMP4 BMP2
24 pathway-restricted SMAD protein phosphorylation GO:0060389 9.61 GDF2 BMP2
25 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.6 RUNX2 BMP2
26 telencephalon regionalization GO:0021978 9.58 BMP4 BMP2
27 positive regulation of cartilage development GO:0061036 9.58 GDF2 BMP4 BMP2
28 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.49 BMP4 BMP2
29 BMP signaling pathway involved in heart induction GO:0003130 9.48 BMP4 BMP2
30 cellular response to BMP stimulus GO:0071773 9.46 RUNX2 GDF2 BMP4 BMP2
31 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.43 RUNX2 BMP4 BMP2
32 ossification GO:0001503 9.35 RUNX2 GDF2 BMP4 BMP2 BGLAP
33 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 heparin binding GO:0008201 9.5 RSPO2 BMP4 ADAMTS1
2 growth factor activity GO:0008083 9.43 GDF2 BMP4 BMP2
3 co-receptor binding GO:0039706 9.16 BMP4 BMP2
4 BMP receptor binding GO:0070700 8.96 BMP4 BMP2
5 transforming growth factor beta receptor binding GO:0005160 8.8 GDF2 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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