Klippel-Feil Syndrome (KFS)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome

MalaCards integrated aliases for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 12 74 25 53 36 43 15 32
Klippel Feil Syndrome 52 29 6
Congenital Dystrophia Brevicollis 12 25
Cervical Vertebral Fusion 52 25
Klippel-Feil Deformity, Deafness and Facial Asymmetry 12
Congenital Synostosis of Cervical Vertebrae 12
Klippel-Feil Syndrome, Autosomal Dominant 71
Autosomal Dominant Klippel-Feil Syndrome 12
Cervical Vertebral Fusion Syndrome 25
Vertebral Cervical Fusion Syndrome 25
Klippel-Feil and Turner Syndrome 12
Dystrophia Brevicollis Congenita 25
Fusion of Cervical Vertebrae 25
Cervical Fusion Syndrome 25
Klippel-Feil Deformity 25
Klippel-Feil Sequence 25
Kfs 25


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Disease Ontology 12 DOID:10426
KEGG 36 H00852
ICD9CM 34 756.16
MeSH 43 D007714
NCIt 49 C98967
SNOMED-CT 67 388981000
ICD10 32 Q76.1
UMLS 71 C0022738 C1861689

Summaries for Klippel-Feil Syndrome

Genetics Home Reference : 25 Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur. People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome. In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.

MalaCards based summary : Klippel-Feil Syndrome, also known as klippel feil syndrome, is related to klippel-feil syndrome 2, autosomal recessive and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are TGF-beta signaling pathway and Gene regulatory network modelling somitogenesis. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and heart, and related phenotypes are embryo and growth/size/body region

Disease Ontology : 12 A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

NIH Rare Diseases : 52 Klippel Feil syndrome (KFS) is a condition affecting the development of the bones in the spine. People with KFS are born with abnormal fusion of at least two spinal bones (vertebrae) in the neck. Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. Some people with KFS have no symptoms. Others may have frequent headaches, back and neck pain, and other nerve issues. People with KFS are at risk for severe spinal injury. KFS can occur along with other types of birth defects , and sometimes KFS occurs as a feature of another disorder or syndrome. The cause of most cases of KFS is unknown, but sometimes it is caused by genetic alterations (mutations ) in one of several different genes . This condition is diagnosed based on a clinical examination, the symptoms, and imaging studies. Treatment is symptomatic and may include medications, surgery, and/or physical therapy .

NINDS : 53 Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing.  Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.

KEGG : 36 Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified.

Wikipedia : 74 Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital... more...

Related Diseases for Klippel-Feil Syndrome

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant Klippel-Feil Syndrome 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

Diseases related to Klippel-Feil Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 240)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 2, autosomal recessive 35.2 RIPPLY2 MEOX1
2 klippel-feil syndrome 1, autosomal dominant 35.2 LRRK2 GDF6
3 isolated klippel-feil syndrome 34.6 MEOX1 GDF6 GDF3
4 klippel-feil syndrome 1 33.9 LRRK2 GDF6 GDF5
5 meningocele 30.6 MESP2 HES7
6 spina bifida occulta 30.3 MESP2 HES7 GDF6 GDF3
7 leber congenital amaurosis 17 30.0 GDF6 GDF5
8 microphthalmia, isolated 4 30.0 GDF6 GDF5
9 coloboma of macula 29.8 KIR2DS4 GDF6 GDF3
10 spondylocostal dysostosis, autosomal recessive 29.6 TBX6 RIPPLY2 MESP2 LFNG HES7
11 scoliosis 29.4 TBX6 ROBO3 RIPPLY2 PAX1 MESP2 LFNG
12 spondylocostal dysostosis 3, autosomal recessive 28.0 TBX6 RIPPLY2 RIPPLY1 PAX1 MESP2 LFNG
13 dysostosis 27.1 TSR2 TBX6 RIPPLY2 MESP2 LFNG HES7
14 klippel-feil syndrome 3, autosomal dominant 13.1
15 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 13.1
16 klippel-feil syndrome 3 12.8
17 klippel-feil syndrome 4 12.8
18 frontonasal dysplasia klippel feil syndrome 12.5
19 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 12.2
20 sprengel deformity 11.9
21 cardiospondylocarpofacial syndrome 11.9
22 segmentation syndrome 1 11.9
23 mental retardation, skeletal dysplasia, and abducens palsy 11.5
24 branchiootic syndrome 1 10.8
25 cleft palate, isolated 10.7
26 neural tube defects 10.7
27 benign teratoma 10.7
28 cystic teratoma 10.7
29 mature teratoma 10.7
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
31 synostosis 10.7
32 syringomyelia, noncommunicating isolated 10.6
33 syringomyelia 10.6
34 diastematomyelia 10.6
35 situs inversus 10.6
36 cervical rib 10.6
37 renal hypodysplasia/aplasia 1 10.6
38 hydrocephalus 10.5
39 coarctation of aorta 10.5
40 myelomeningocele 10.5
41 quadriplegia 10.5
42 chiari malformation 10.5
43 respiratory failure 10.4
44 ankylosis 10.4
45 thoracic outlet syndrome 10.4
46 encephalocele 10.4
47 spinal cord injury 10.4
48 microtia 10.4
49 myotonia 10.4
50 amyotrophic lateral sclerosis 1 10.4

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome:

Diseases related to Klippel-Feil Syndrome

Symptoms & Phenotypes for Klippel-Feil Syndrome

MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.02 GDF3 GDF5 HES7 LFNG MEOX1 MESP2
2 growth/size/body region MP:0005378 10 ADCK2 GDF3 GDF5 GDF6 HES7 LFNG
3 limbs/digits/tail MP:0005371 9.81 GDF5 GDF6 HES7 LFNG MEOX1 MESP2
4 mortality/aging MP:0010768 9.77 GDF3 GDF5 GDF6 HES7 LFNG LRRK2
5 skeleton MP:0005390 9.32 GDF5 GDF6 HES7 LFNG LRRK2 MEOX1

Drugs & Therapeutics for Klippel-Feil Syndrome

Drugs for Klippel-Feil Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
3 Anesthetics

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Multi-Center, Open-Label, Prospective Study of CervicalStim Device™ as Adjunctive Care Following Cervical Fusion Unknown status NCT03177473
2 Prospective Follow-up Study of CeSPACE XP - Titanium Coated PEEK Cages - for the Treatment of Degenerative Cervical Disc Disease Completed NCT03565224
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Airway Management of Pediatric Patients With Klippel-Feil Syndrome Active, not recruiting NCT03741790

Search NIH Clinical Center for Klippel-Feil Syndrome

Cochrane evidence based reviews: klippel-feil syndrome

Genetic Tests for Klippel-Feil Syndrome

Genetic tests related to Klippel-Feil Syndrome:

# Genetic test Affiliating Genes
1 Klippel Feil Syndrome 29

Anatomical Context for Klippel-Feil Syndrome

MalaCards organs/tissues related to Klippel-Feil Syndrome:

Bone, Spinal Cord, Heart, Kidney, Brain, Lung, Eye

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 748)
# Title Authors PMID Year
Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion. 61
32459778 2020
Cervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review. 61
32351029 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity. 61
32212228 2020
Surgical treatment for central sleep apnea due to occipitocervical compression myelopathy in a patient with Klippel-Feil syndrome: a case report. 61
32553602 2020
Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment. 61
31923127 2020
Occipital Plate Fixation in the Pediatric Population. 61
32301850 2020
Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature. 61
32339744 2020
Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome. 61
31931249 2020
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome. 61
32278351 2020
Intrathoracic bifurcation of the left common carotid artery associated with rib fusion and Klippel-Feil syndrome. 61
31531710 2020
Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report. 61
30028777 2020
Letter to the Editor. Klippel-Feil syndrome. 61
32109868 2020
Letter to the editor concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265]. 61
31773276 2020
Answer to the Letter to the Editor of B. Hu et al. concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265]. 61
31773274 2020
A New Method for Assessment of Upright Posture Intolerance. 61
32071672 2020
Fracture-Dislocation of the Cervical Spine Secondary to Low-Impact Trauma in a Patient with Klippel-Feil Syndrome: A Case Report. 61
32039303 2020
Klippel-Feil syndrome: a review of the literature. 61
31577545 2020
Papillary Lesions of the Male Breast: A Study of 117 Cases and Brief Review of the Literature Demonstrate a Broad Clinicopathologic Spectrum. 61
31403965 2020
Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. 61
31835254 2019
Imaging of Thoracic Wall Abnormalities. 61
31544369 2019
Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism. 61
31723672 2019
Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. 61
31363914 2019
Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia. 61
31295597 2019
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review. 61
31214770 2019
Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging. 61
31246314 2019
Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation. 61
31101983 2019
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. 61
31195167 2019
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019
Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends. 61
31772424 2019
[Torticollis in children]. 61
31073632 2019
[Teenagers with torticollis]. 61
31120207 2019
Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy. 61
30610988 2019
Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia. 61
30784191 2019
Klippel-Feil Syndrome with Sprengel Deformity. 61
31558956 2019
Anorectal Malformation Associated with Klippel-Feil Syndrome: A Rare Association. 61
31105402 2019
[Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation]. 61
31095236 2019
Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report. 61
30705709 2019
The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans. 61
31032440 2019
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 61
30466636 2019
Spinal anesthesia with a low dosage of local anesthetic for urgent cesarean delivery in a parturient with Klippel-Feil syndrome. 61
30218886 2019
Congenital deformation of the posterior arch of the atlas: Subluxation of the atlanto-axial joint with temporary quadriplegia. 61
30719304 2019
KingVision® and dexmedetomidine for opioid-free awake intubation in a patient with Klippel-Feil syndrome for complex percutaneous nephrolithotomy in a prone position: a case report. 61
31741358 2019
Chiari Malformations. 61
30610307 2019
Instrumented arthrodesis for non-traumatic craniocervical instability in very young children. 61
29959504 2019
Cord injury after spinal anaesthesia in a patient with previously undiagnosed Klippel-Feil syndrome. 61
32051936 2019
Klippel-Feil syndrome accompanied by partial cleft of the cervical spine: a not-so-unusual combination? 61
30804622 2019
Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome. 61
30277257 2018
Dexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome. 61
29887292 2018
Performing the screw fixation from C3 to odontoid process in a patient with Klippel-Feil syndrome and type II odontoid fracture. 61
30783354 2018
The Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report. 61
30258737 2018

Variations for Klippel-Feil Syndrome

ClinVar genetic disease variations for Klippel-Feil Syndrome:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)duplication Likely pathogenic 634522 rs1569172839 22:26299683-26299684 22:25903716-25903717
2 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)SNV Conflicting interpretations of pathogenicity 8371 rs121909352 8:97157413-97157413 8:96145185-96145185
3 GDF6 NM_001001557.4(GDF6):c.*268_*275delinsCTTTindel Uncertain significance 364032 rs886063205 8:97156516-97156523 8:96144288-96144295
4 GDF6 NM_001001557.4(GDF6):c.*320_*321insCTTTinsertion Uncertain significance 364026 rs886063199 8:97156470-97156471 8:96144242-96144243
5 GDF6 NM_001001557.4(GDF6):c.*272_*278deldeletion Uncertain significance 364030 rs886063203 8:97156513-97156519 8:96144285-96144291
6 GDF6 NM_001001557.4(GDF6):c.*321_*322deldeletion Uncertain significance 364025 rs886063198 8:97156469-97156470 8:96144241-96144242
7 GDF6 NM_001001557.4(GDF6):c.*271_*272insCinsertion Uncertain significance 364033 rs1554571161 8:97156519-97156520 8:96144291-96144292
8 GDF6 NM_001001557.4(GDF6):c.*271_*272insCTCinsertion Uncertain significance 364034 rs1554571161 8:97156519-97156520 8:96144291-96144292
9 GDF6 NM_001001557.4(GDF6):c.*322_*323insTTinsertion Uncertain significance 364024 rs886063197 8:97156468-97156469 8:96144240-96144241
10 GDF6 NM_001001557.4(GDF6):c.*273_*274CT[20]short repeat Uncertain significance 364027 rs71275339 8:97156473-97156478 8:96144245-96144250
11 GDF6 NM_001001557.3(GDF6):c.*2243G>CSNV Likely benign 369618 rs142786788 8:97154548-97154548 8:96142320-96142320
12 GDF6 NM_001001557.4(GDF6):c.*1429_*1430deldeletion Likely benign 364012 rs139734303 8:97155361-97155362 8:96143133-96143134
13 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)SNV Likely benign 8373 rs121909353 8:97156888-97156888 8:96144660-96144660
14 MYO18B NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp)SNV Likely benign 587504 rs1568989210 22:26164619-26164619 22:25768652-25768652

Expression for Klippel-Feil Syndrome

Search GEO for disease gene expression data for Klippel-Feil Syndrome.

Pathways for Klippel-Feil Syndrome

Pathways related to Klippel-Feil Syndrome according to KEGG:

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

Pathways related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes

GO Terms for Klippel-Feil Syndrome

Biological processes related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.7 PAX1 HES7 GDF3
2 multicellular organism development GO:0007275 9.7 TBX6 ROBO3 RIPPLY2 RIPPLY1 PAX1 MESP2
3 Notch signaling pathway GO:0007219 9.65 RIPPLY2 MESP2 HES7
4 BMP signaling pathway GO:0030509 9.63 GDF6 GDF5 GDF3
5 SMAD protein signal transduction GO:0060395 9.61 GDF6 GDF5 GDF3
6 somitogenesis GO:0001756 9.55 RIPPLY2 PAX1 MESP2 LFNG HES7
7 embryonic pattern specification GO:0009880 9.54 RIPPLY2 RIPPLY1
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.54 GDF6 GDF5 GDF3
9 post-anal tail morphogenesis GO:0036342 9.51 RIPPLY2 HES7
10 positive regulation of chondrocyte differentiation GO:0032332 9.49 GDF6 GDF5
11 mesoderm development GO:0007498 9.43 TBX6 HES7 GDF3
12 somite specification GO:0001757 9.4 RIPPLY1 MEOX1
13 sclerotome development GO:0061056 9.32 PAX1 MEOX1
14 somite rostral/caudal axis specification GO:0032525 9.02 TBX6 RIPPLY2 RIPPLY1 MESP2 GDF3

Molecular functions related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.8 GDF6 GDF5 GDF3

Sources for Klippel-Feil Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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