NF2
MCID: NRF023
MIFTS: 75

Neurofibromatosis, Type Ii (NF2)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neurofibromatosis, Type Ii

MalaCards integrated aliases for Neurofibromatosis, Type Ii:

Name: Neurofibromatosis, Type Ii 57 38
Acne 38 12 76 29 43 15 63 73
Acne Vulgaris 12 76 55 44 15 73
Neurofibromatosis, Type 2 57 29 13 6 40
Nf2 57 59 75
Bilateral Acoustic Neurofibromatosis 57 59
Central Neurofibromatosis 59 75
Neurofibromatosis 2 75 73
Acne Varioliformis 12 73
Bilateral Acoustic Neurofibromatosis; Banf 57
Acoustic Neurinoma, Bilateral; Acn 57
Neurofibromatosis, Central Type 57
Acoustic Schwannomas, Bilateral 57
Acoustic Neurinoma, Bilateral 57
Neurofibromatosis Type 2 59
Frontalis Acne 12
Banf 57
Acn 57

Characteristics:

Orphanet epidemiological data:

59
neurofibromatosis type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Finland); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incidence of 1 in 25,000 livebirths
nearly 100% penetrance by 60 years of age
approximately half of the mutations are de novo


HPO:

32
neurofibromatosis, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis, Type Ii

MedlinePlus : 43 Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse. If you have acne Clean your skin gently Try not to touch your skin Avoid the sun Treatments for acne include medicines and creams. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Neurofibromatosis, Type Ii, also known as acne, is related to neurilemmoma and spinal cord ependymoma, and has symptoms including ataxia, pruritus and headache. An important gene associated with Neurofibromatosis, Type Ii is NF2 (Neurofibromin 2), and among its related pathways/superpathways are Cytoskeletal Signaling and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. The drugs Gilotrif and Vandetanib have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and brain, and related phenotypes are ataxia and gait disturbance

Disease Ontology : 12 A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.

Genetics Home Reference : 25 Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.

OMIM : 57 The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II. (101000)

UniProtKB/Swiss-Prot : 75 Neurofibromatosis 2: Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.

PubMed Health : 63 About acne: Most teenagers will have pimples at some point. Some only have a few small pimples that soon go away again. Others develop more severe, persistent and clearly visible acne. This can be very distressing, particularly in puberty.But there are a number of things that can be done about acne, although patience is needed. This information is about acne in teenagers and young adults, known as “common acne or acne vulgaris.

Wikipedia : 76 Acne, also known as acne vulgaris, is a long-term skin disease that occurs when hair follicles are... more...

Related Diseases for Neurofibromatosis, Type Ii

Diseases in the Neurofibromatosis, Type Ii family:

Neurofibromatosis, Type I

Diseases related to Neurofibromatosis, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 464)
# Related Disease Score Top Affiliating Genes
1 neurilemmoma 32.7 NF2 NF1 MSN EZR
2 spinal cord ependymoma 32.3 NF2 EPB41L3
3 neurilemmomatosis 32.2 NF2 NF1
4 benign ependymoma 32.2 NF2 EPB41L3
5 meningioma, familial 32.2 NF2 NF1 EPB41L3
6 spinal meningioma 32.0 NF2 NF1
7 benign meningioma 31.9 NF2 EPB41L3
8 neurofibrosarcoma 31.8 NF2 NF1
9 plexiform neurofibroma 31.7 NF2 NF1
10 neurofibromatosis, familial spinal 31.6 NF2 NF1
11 plexiform schwannoma 31.6 NF2 NF1
12 atypical neurofibroma 31.6 NF2 NF1
13 facial nerve disease 31.6 NF2 CADM1
14 immature cataract 31.6 NF2 NF1
15 amyloid tumor 31.5 NF2 NF1
16 neurilemmoma of the fifth cranial nerve 31.5 NF2 NF1
17 trigeminal nerve neoplasm 31.5 NF2 NF1
18 spinal canal and spinal cord meningioma 31.5 NF2 NF1
19 optic nerve neoplasm 31.4 NF2 NF1
20 meningioma, radiation-induced 31.1 RDX NF2 MSN EZR EPB41L3 CADM1
21 sebaceous gland disease 30.3 TLR2 SHBG IL1A DEFB4A
22 septic arthritis 30.0 TLR2 DEFB4A
23 vaginitis 29.9 EZR DEFB4A
24 facial paralysis 29.8 NF2 CADM1
25 acoustic neuroma 29.4 NF2 NF1
26 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.6
27 pyogenic arthritis, pyoderma gangrenosum and acne 12.5
28 acne inversa, familial, 3 12.4
29 acne inversa, familial, 1 12.4
30 acne inversa, familial, 2, with or without dowling-degos disease 12.4
31 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.3
32 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 12.1
33 hidradenitis suppurativa 12.1
34 sapho syndrome 12.0
35 acne, adult 12.0
36 anterior cutaneous nerve entrapment syndrome 11.9
37 rosacea 11.9
38 neurofibromatosis, type iv, of riccardi 11.8
39 schwannomatosis 1 11.7
40 neurofibromatosis, type i 11.7
41 polycystic ovary syndrome 11.5
42 mesothelioma, malignant 11.5
43 dowling-degos disease 11.5
44 neurofibroma 11.4
45 ependymoma 11.4
46 peritoneal mesothelioma 11.4
47 neuroma 11.4
48 malignant peritoneal mesothelioma 11.3
49 monosomy 22 11.3
50 perifolliculitis capitis abscedens et suffodiens, familial 11.2

Graphical network of the top 20 diseases related to Neurofibromatosis, Type Ii:



Diseases related to Neurofibromatosis, Type Ii

Symptoms & Phenotypes for Neurofibromatosis, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
headache

Neoplasia:
astrocytoma
meningioma
glioma
vestibular schwannoma (over 90% of patients)
ependymoma
more
Head And Neck Eyes:
retinal hamartoma
juvenile posterior subcapsular lenticular opacities
juvenile cortical cataract
epiretinal membranes
no lisch nodules

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Ears:
tinnitus
hearing loss

Skin Nails Hair Skin:
schwannoma
occasional cafe-au-lait spots
occasional neurofibroma


Clinical features from OMIM:

101000

Human phenotypes related to Neurofibromatosis, Type Ii:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 very rare (1%) Very frequent (99-80%) HP:0001251
2 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
3 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
6 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
7 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
8 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
9 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
10 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
11 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
12 abnormality of the retinal vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0008046
13 vertigo 59 32 very rare (1%) Very frequent (99-80%) HP:0002321
14 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
15 dysgraphia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010526
16 astrocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009592
17 tinnitus 59 32 very rare (1%) Very frequent (99-80%) HP:0000360
18 meningioma 59 32 very rare (1%) Occasional (29-5%) HP:0002858
19 pseudoepiphyses of the metacarpals 59 32 occasional (7.5%) Occasional (29-5%) HP:0009193
20 occasional neurofibromas 59 32 occasional (7.5%) Occasional (29-5%) HP:0009595
21 papule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200034
22 seizures 32 very rare (1%) HP:0001250
23 hearing impairment 32 very rare (1%) HP:0000365
24 cranial nerve paralysis 59 Occasional (29-5%)
25 peripheral neuropathy 32 HP:0009830
26 neoplasm of the central nervous system 59 Occasional (29-5%)
27 neoplasm of the skin 59 Frequent (79-30%)
28 benign neoplasm of the central nervous system 59 Occasional (29-5%)
29 headache 32 HP:0002315
30 retinal hamartoma 32 very rare (1%) HP:0009594
31 cafe-au-lait spot 32 very rare (1%) HP:0000957
32 peripheral schwannoma 32 HP:0009593
33 epiretinal membrane 32 HP:0100014
34 juvenile posterior subcapsular lenticular opacities 32 very rare (1%) HP:0007935
35 ependymoma 32 very rare (1%) HP:0002888
36 unilateral vestibular schwannoma 32 very rare (1%) HP:0009590
37 cortical cataract 32 very rare (1%) HP:0100019
38 bilateral vestibular schwannoma 32 very rare (1%) HP:0009589

UMLS symptoms related to Neurofibromatosis, Type Ii:


ataxia, pruritus, headache, tinnitus, exanthema

MGI Mouse Phenotypes related to Neurofibromatosis, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CADM1 EPB41L3 ETV5 NF1 NF2 RDX
2 neoplasm MP:0002006 9.35 EPB41L3 IL1A NF1 NF2 TLR2
3 nervous system MP:0003631 9.23 CADM1 EPB41L3 ETV5 NF1 NF2 RDX

Drugs & Therapeutics for Neurofibromatosis, Type Ii

PubMedHealth treatment related to Neurofibromatosis, Type Ii: 63

People with acne often try out different things to improve the appearance of their skin. There are a lot of different recommendations when it comes to acne, involving things like facial toners, sunlight and specific diets.There are also a number of medications for acne. Some are applied to the skin, some are swallowed. Because you can buy them without a prescription, many of the products are heavily marketed. But advert ising campaigns often create unrealistic expectations. Some treatment approaches and medications have been proven to effectively reduce acne, while others have not.Unfortunately there are only a few good-quality studies comparing the various treatments with each other. So it is not possible to tell whether certain products are more effective than others. Most products have to be used for a long time before there is a noticeable improvement. And some have strong side effects.

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Gilotrif 18 49 AFATINIB DIMALEATE Boehringer Ingelheim July 2013
2
Vandetanib 18 49 vandetanib AstraZeneca April 2011

Drugs for Neurofibromatosis, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
4
Bevacizumab Approved, Investigational Phase 2,Phase 1 216974-75-3
5
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
6
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
7
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
8
Osimertinib Approved Phase 2 1421373-65-0
9
Adenosine Approved, Investigational Phase 2 58-61-7 60961
10
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
11
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
12
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
13
Trametinib Approved Phase 2 871700-17-3 11707110
14
Nivolumab Approved Phase 2 946414-94-4
15
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
16
Racepinephrine Approved Phase 2 329-65-7 838
17
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
18
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 11431660 5330286 5005498
19
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
20
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
21
Olaparib Approved Phase 2 763113-22-0 23725625
22
Lactitol Investigational Phase 2 585-86-4 3871
23
Lapatinib Approved March 2007, Investigational Phase 2,Early Phase 1 388082-78-8, 231277-92-2 208908 9941095
24 Anti-Bacterial Agents Phase 2,Phase 1,Early Phase 1
25 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1
26 Antibiotics, Antitubercular Phase 2,Phase 1,Early Phase 1
27 Antifungal Agents Phase 2,Phase 1,Early Phase 1
28 Immunologic Factors Phase 2,Phase 1,Early Phase 1
29 Anti-Infective Agents Phase 2,Phase 1,Early Phase 1
30 Analgesics, Non-Narcotic Phase 2
31 Analgesics Phase 2
32 Peripheral Nervous System Agents Phase 2
33 Anti-Inflammatory Agents Phase 2
34 Anti-Inflammatory Agents, Non-Steroidal Phase 2
35 Antirheumatic Agents Phase 2
36 6-(4-fluorophenyl)-2,3-dihydro-5-(4-pyridinyl)imidazo(2,1-b)thiazole Phase 2
37 Angiogenesis Inhibitors Phase 2,Phase 1
38 Angiogenesis Modulating Agents Phase 2,Phase 1
39 Endostatins Phase 2 71581480
40 Protein Kinase Inhibitors Phase 2,Phase 1,Early Phase 1
41 Antibodies Phase 2,Phase 1
42 Immunoglobulins Phase 2,Phase 1
43 Antibodies, Monoclonal Phase 2,Phase 1
44 Cyclooxygenase Inhibitors Phase 2
45 Antipyretics Phase 2
46 Fibrinolytic Agents Phase 2
47 Platelet Aggregation Inhibitors Phase 2
48 Epinephryl borate Phase 2
49
s 1 (combination) Phase 2
50 Maytansine Phase 2

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
2 PTC299 for Treatment of Neurofibromatosis Type 2 Terminated NCT00911248 Phase 2 PTC299
3 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
4 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
5 Phase 2 Study of Bevacizumab in Children and Young Adults With NF 2 and Progressive Vestibular Schwannomas Active, not recruiting NCT01767792 Phase 2 Bevacizumab
6 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
7 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
8 Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma Active, not recruiting NCT01345136 Phase 2 RAD001, everolimus
9 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
10 AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas Active, not recruiting NCT02831257 Phase 2 AZD2014
11 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
12 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
13 Everolimus (RAD001) for the Treatment of Malignant Pleural Mesothelioma With Merlin/NF2 Loss as a Biomarker to Predict Sensitivity Completed NCT01024946 Phase 2 everolimus
14 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
15 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
16 Vismodegib and FAK Inhibitor GSK2256098 in Treating Patients With Progressive Meningiomas Suspended NCT02523014 Phase 2 vismodegib;GSK2256098
17 Study of Aspirin in Patients With Vestibular Schwannoma Recruiting NCT03079999 Phase 2 Aspirin;Placebo
18 Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 Phase 2
19 Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
20 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
21 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
22 An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors Completed NCT00030043 Phase 1
23 A Safety Study of the Auditory Brainstem Implant for Pediatric Profoundly Deaf Patients Recruiting NCT02102256 Phase 1
24 Feasibility Study of Auditory Brainstem Implant in Young Children Withdrawn NCT01850225 Phase 1
25 Relative Bioavailability Study Completed NCT01602887 Phase 1 PD-0332991;PD-0332991;PD-0332991;PD-0332991
26 Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
27 NF2 Natural History Consortium Unknown status NCT00004483
28 Effect of Implant Position on Magnetic Resonance Image Distortion Unknown status NCT02246231 Not Applicable
29 WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data Completed NCT03210285
30 Reliability of Functional Outcome Measures in Neurofibromatosis 2 Completed NCT03617276
31 A Single Center Pilot Study to Assess the Intra-observer Reliability of Measuring Muscle Strength Using a Hand Held Dynamometer in Children and Adults With Neurofibromatosis Type 1 (NF1) and Type 2 (NF2) Recruiting NCT03672838 Not Applicable
32 Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients Completed NCT01222728
33 Natural History Study of Patients With Neurofibromatosis Type 2 Active, not recruiting NCT00598351
34 Compassionate Use Arm - ABI541 ABI for 10 NF2 Patients No longer available NCT02589912
35 Resiliency Training for Patients With NF2 Via Videoconferencing With Skype Completed NCT02811718 Not Applicable
36 Analysis of NF2 Mutations in Radiation-Related Neural Tumors Completed NCT00340496
37 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767
38 Concentration and Activity of Lapatinib in Vestibular Schwannomas Completed NCT00863122 Early Phase 1 lapatinib
39 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
40 Auditory Brainstem Implantation in Young Children Completed NCT01904448 Not Applicable
41 Exploratory Evaluation of AR-42 Histone Deacetylase Inhibitor in the Treatment of Vestibular Schwannoma and Meningioma Active, not recruiting NCT02282917 Early Phase 1 AR-42
42 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270 Not Applicable
43 Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas Active, not recruiting NCT01880749 Early Phase 1 RAD001
44 Auditory Midbrain Implant Study Recruiting NCT02984202 Not Applicable
45 Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing Recruiting NCT03406208 Not Applicable
46 Auditory Brainstem Implant (ABI) in Children With No Cochleae or Auditory Nerves Recruiting NCT02310399 Not Applicable
47 Implantation of an Auditory Brainstem Implant for the Treatment of Incapacitating Unilateral Tinnitus Recruiting NCT02630589 Not Applicable
48 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
49 Neurofeedback and Working Memory Training for Children and Adolescents With ADHD Recruiting NCT01841151 Not Applicable
50 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Neurofibromatosis, Type Ii

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neurofibromatosis, Type Ii cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neurofibromatosis, Type Ii:
Laviv azficel-T, dermal fibroblasts for scarring
Embryonic/Adult Cultured Cells Related to Neurofibromatosis, Type Ii:
Skin-derived fibroblasts PMIDs: 21287562 23211390 10805306

Cochrane evidence based reviews: acne vulgaris

Genetic Tests for Neurofibromatosis, Type Ii

Genetic tests related to Neurofibromatosis, Type Ii:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 2 29 NF2
2 Acne 29

Anatomical Context for Neurofibromatosis, Type Ii

MalaCards organs/tissues related to Neurofibromatosis, Type Ii:

41
Skin, Ovary, Brain, Testes, Spinal Cord, Eye, T Cells

Publications for Neurofibromatosis, Type Ii

Articles related to Neurofibromatosis, Type Ii:

(show top 50) (show all 1138)
# Title Authors Year
1
Insights on the Use of Nanocarriers for Acne Alleviation. ( 30210000 )
2019
2
Standardized Photographic Documentation of Hidradenitis Suppurativa/Acne Inversa. ( 30368496 )
2019
3
New Concepts, Concerns, and Creations in Acne. ( 30466681 )
2019
4
Depictions of acne and psoriasis influence interpersonal aversion. ( 30048157 )
2019
5
Patient selection criteria and innovative techniques for improving outcome and cosmesis in acne keloidalis nuchae lesion excision and primary closure. ( 30555880 )
2019
6
Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. ( 29285776 )
2018
7
Treating Acne in Patients With Skin of Color. ( 30192346 )
2018
8
Tretinoin Loaded Nanoemulsion for Acne Vulgaris: Fabrication, Physicochemical and Clinical Efficacy Assessments. ( 30199861 )
2018
9
Combination chemical peels are more effective than single chemical peel in treatment of mild-to-moderate acne vulgaris: A split face comparative clinical trial. ( 30203434 )
2018
10
Calprotectin can play an inflammatory role in acne vulgaris. ( 30206454 )
2018
11
Comparison of Efficacy of Doxycycline and Isotretinoin on Cutaneous Human Beta-Defensin-1 and -2 Levels in Acne Vulgaris. ( 30210158 )
2018
12
Pathogenic Yeasts Recovered From Acne Vulgaris: Molecular Characterization and Antifungal Susceptibility Pattern. ( 30210159 )
2018
13
A Comparative Study of Combined Dermaroller and Platelet-Rich Plasma Versus Dermaroller Alone in Acne Scars and Assessment of Quality of Life Before and After Treatment. ( 30210162 )
2018
14
Severe Nodulocystic Acne not Responding to Isotretinoin Therapy Successfully Treated with Oral Dapsone. ( 30210724 )
2018
15
Non-insulated Fractional Microneedle Radiofrequency Treatment with Smooth Motor Insertion for Reduction of Depressed Acne Scars, Pore Size, and Skin Texture Improvement: A Preliminary Study. ( 30214666 )
2018
16
Management of Truncal Acne Vulgaris with Topical Dapsone 7.5% Gel. ( 30214667 )
2018
17
Prevalence and psychological impact of Acne vulgaris among female secondary school students in Arar city, Saudi Arabia, in 2018. ( 30214705 )
2018
18
Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study. ( 30220112 )
2018
19
Comparison of novel dual mode vs conventional single pass of a 1450-nm diode laser in the treatment of acne vulgaris for Korean patients: A 20-week prospective, randomized, split-face study. ( 30225903 )
2018
20
Nanotechnological Carriers For Treatment Of Acne. ( 30227825 )
2018
21
Isotretinoin-triggered acne fulminans: a rare, disabling occurrence. ( 30229637 )
2018
22
A novel cognitive stress management technique for acne vulgaris: a short report of a pilot experimental study. ( 30229883 )
2018
23
Noninvasive Atrophic Acne Scar Treatment in Asians With a 755-nm Picosecond Laser Using A Diffractive Optic Lens-A Retrospective Photographic Review. ( 30234649 )
2018
24
Once-Daily Oral Sarecycline 1.5 mg/kg/day Is Effective for Moderate to Severe Acne Vulgaris: Results from Two Identically Designed, Phase 3, Randomized, Double-Blind Clinical Trials. ( 30235387 )
2018
25
Artificial Intelligence for the Objective Evaluation of Acne Investigator Global Assessment. ( 30235389 )
2018
26
Seasonal aggravation of acne in summers and the effect of temperature and humidity in a study in a tropical setting. ( 30238598 )
2018
27
Serum irisin: A prognostic marker for severe acne vulgaris. ( 30238599 )
2018
28
Effect of oral isotretinoin on the nucleo-cytoplasmic distribution of FoxO1 and FoxO3 proteins in sebaceous glands of patients with acne vulgaris. ( 30240097 )
2018
29
Topical dapsone gel is a new treatment option for acne agminata. ( 30246349 )
2018
30
Female type of adult acne: Physiological and psychological considerations and management. ( 30248242 )
2018
31
Acne mechanica in a child with a motor tic. ( 30249088 )
2018
32
A randomized controlled trial of topical benzoyl peroxide 2.5% gel with a low glycemic load diet versus topical benzoyl peroxide 2.5% gel with a normal diet in acne (grades 1-3). ( 30264745 )
2018
33
Stigma predicts health-related quality of life impairment, psychological distress, and somatic symptoms in acne sufferers. ( 30265724 )
2018
34
Acne vulgaris and its association with dietary intake: a Malaysian perspective. ( 30272862 )
2018
35
Daily Intake of Soft Drinks and Moderate-to-Severe Acne Vulgaris in Chinese Adolescents. ( 30274928 )
2018
36
Licochalcone A attenuates acne symptoms mediated by suppression of NLRP3 inflammasome. ( 30281174 )
2018
37
Acne Vulgaris. ( 30281982 )
2018
38
Advances in Acne and Rosacea Therapy. ( 30192344 )
2018
39
Butterfly Effect - the Concept and the Implications in Dermatology, Acne, and Rosacea. ( 30069233 )
2018
40
Assessment of Tear Functions in Patients with Acne Rosacea without Meibomian Gland Dysfunction. ( 29533687 )
2018
41
Is acne in adolescence associated with prostate cancer risk? Evidence from a meta-analysis. ( 30403728 )
2018
42
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1. ( 30484888 )
2018
43
Acute aseptic meningitis during isotretinoin treatment for nodular acne solely presenting with headache: case report and brief review of the literature. ( 30160569 )
2018
44
Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease? ( 30390722 )
2018
45
Chest pain that does not make the cut: a case study of a surgical patient with Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis syndrome. ( 30239087 )
2018
46
Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report. ( 30313072 )
2018
47
Pulmonary high-resolution computed tomography findings in patients with synovitis, acne, pustulosis, hyperostosis and osteitis syndrome. ( 30517110 )
2018
48
Vedolizumab-induced acne in inflammatory bowel disease. ( 29654701 )
2018
49
Does isotretinoin cause depression and anxiety in acne patients? ( 30515924 )
2018
50
Social Appearance Anxiety in Adult Patients with Acne: A Cross-Sectional Study. ( 30390723 )
2018

Variations for Neurofibromatosis, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Type Ii:

75 (show all 16)
# Symbol AA change Variation ID SNP ID
1 NF2 p.Phe62Ser VAR_000810 rs121434261
2 NF2 p.Glu106Gly VAR_000813
3 NF2 p.Asn220Tyr VAR_000818
4 NF2 p.Thr352Met VAR_000821 rs764441073
5 NF2 p.Leu360Pro VAR_000822 rs74315492
6 NF2 p.Leu535Pro VAR_000825 rs74315493
7 NF2 p.Gln538Pro VAR_000826 rs74315494
8 NF2 p.Leu234Arg VAR_009123
9 NF2 p.Met77Val VAR_043011
10 NF2 p.Leu141Pro VAR_043012
11 NF2 p.Gly197Cys VAR_043013
12 NF2 p.Lys413Glu VAR_043014 rs766974263
13 NF2 p.Lys533Thr VAR_043015
14 NF2 p.Leu539His VAR_043016
15 NF2 p.Lys579Met VAR_043017
16 NF2 p.Cys133Arg VAR_065227

ClinVar genetic disease variations for Neurofibromatosis, Type Ii:

6 (show top 50) (show all 706)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF2 NM_000268.3(NF2): c.*3055C> T single nucleotide variant Uncertain significance rs886057380 GRCh38 Chromosome 22, 29697857: 29697857
2 NF2 NM_000268.3(NF2): c.*3055C> T single nucleotide variant Uncertain significance rs886057380 GRCh37 Chromosome 22, 30093846: 30093846
3 NF2 NM_000268.3(NF2): c.*2876T> C single nucleotide variant Benign rs5763431 GRCh38 Chromosome 22, 29697678: 29697678
4 NF2 NM_000268.3(NF2): c.*2876T> C single nucleotide variant Benign rs5763431 GRCh37 Chromosome 22, 30093667: 30093667
5 NF2 NM_000268.3(NF2): c.*2841C> T single nucleotide variant Likely benign rs142797364 GRCh38 Chromosome 22, 29697643: 29697643
6 NF2 NM_000268.3(NF2): c.*2841C> T single nucleotide variant Likely benign rs142797364 GRCh37 Chromosome 22, 30093632: 30093632
7 NF2 NM_000268.3(NF2): c.*2373C> A single nucleotide variant Uncertain significance rs886057375 GRCh38 Chromosome 22, 29697175: 29697175
8 NF2 NM_000268.3(NF2): c.*2373C> A single nucleotide variant Uncertain significance rs886057375 GRCh37 Chromosome 22, 30093164: 30093164
9 NF2 NM_000268.3(NF2): c.*2311G> A single nucleotide variant Likely benign rs113956497 GRCh38 Chromosome 22, 29697113: 29697113
10 NF2 NM_000268.3(NF2): c.*2311G> A single nucleotide variant Likely benign rs113956497 GRCh37 Chromosome 22, 30093102: 30093102
11 NF2 NM_000268.3(NF2): c.*2310C> T single nucleotide variant Uncertain significance rs777037756 GRCh38 Chromosome 22, 29697112: 29697112
12 NF2 NM_000268.3(NF2): c.*2310C> T single nucleotide variant Uncertain significance rs777037756 GRCh37 Chromosome 22, 30093101: 30093101
13 NF2 NM_000268.3(NF2): c.*2020C> T single nucleotide variant Uncertain significance rs886057370 GRCh37 Chromosome 22, 30092811: 30092811
14 NF2 NM_000268.3(NF2): c.*2020C> T single nucleotide variant Uncertain significance rs886057370 GRCh38 Chromosome 22, 29696822: 29696822
15 NF2 NM_000268.3(NF2): c.*2007dupT duplication Uncertain significance rs886057365 GRCh37 Chromosome 22, 30092798: 30092798
16 NF2 NM_000268.3(NF2): c.*2007dupT duplication Uncertain significance rs886057365 GRCh38 Chromosome 22, 29696809: 29696809
17 NF2 NM_000268.3(NF2): c.*1904A> G single nucleotide variant Benign rs73390944 GRCh37 Chromosome 22, 30092695: 30092695
18 NF2 NM_000268.3(NF2): c.*1904A> G single nucleotide variant Benign rs73390944 GRCh38 Chromosome 22, 29696706: 29696706
19 NF2 NM_000268.3(NF2): c.*1782T> C single nucleotide variant Uncertain significance rs886057363 GRCh37 Chromosome 22, 30092573: 30092573
20 NF2 NM_000268.3(NF2): c.*1782T> C single nucleotide variant Uncertain significance rs886057363 GRCh38 Chromosome 22, 29696584: 29696584
21 NF2 NM_000268.3(NF2): c.*1640A> C single nucleotide variant Likely benign rs138312881 GRCh38 Chromosome 22, 29696442: 29696442
22 NF2 NM_000268.3(NF2): c.*1640A> C single nucleotide variant Likely benign rs138312881 GRCh37 Chromosome 22, 30092431: 30092431
23 NF2 NM_000268.3(NF2): c.*1522C> A single nucleotide variant Uncertain significance rs886057360 GRCh38 Chromosome 22, 29696324: 29696324
24 NF2 NM_000268.3(NF2): c.*1522C> A single nucleotide variant Uncertain significance rs886057360 GRCh37 Chromosome 22, 30092313: 30092313
25 NF2 NM_000268.3(NF2): c.*1439T> C single nucleotide variant Uncertain significance rs886057359 GRCh38 Chromosome 22, 29696241: 29696241
26 NF2 NM_000268.3(NF2): c.*1439T> C single nucleotide variant Uncertain significance rs886057359 GRCh37 Chromosome 22, 30092230: 30092230
27 NF2 NM_000268.3(NF2): c.*1264C> T single nucleotide variant Uncertain significance rs879093980 GRCh38 Chromosome 22, 29696066: 29696066
28 NF2 NM_000268.3(NF2): c.*1264C> T single nucleotide variant Uncertain significance rs879093980 GRCh37 Chromosome 22, 30092055: 30092055
29 NF2 NM_000268.3(NF2): c.*1260dupC duplication Uncertain significance rs886057352 GRCh38 Chromosome 22, 29696062: 29696062
30 NF2 NM_000268.3(NF2): c.*1260dupC duplication Uncertain significance rs886057352 GRCh37 Chromosome 22, 30092051: 30092051
31 NF2 NM_000268.3(NF2): c.*768_*769dupAG duplication Uncertain significance rs886057348 GRCh38 Chromosome 22, 29695570: 29695571
32 NF2 NM_000268.3(NF2): c.*768_*769dupAG duplication Uncertain significance rs886057348 GRCh37 Chromosome 22, 30091559: 30091560
33 NF2 NM_000268.3(NF2): c.*720G> A single nucleotide variant Likely benign rs184043147 GRCh38 Chromosome 22, 29695522: 29695522
34 NF2 NM_000268.3(NF2): c.*720G> A single nucleotide variant Likely benign rs184043147 GRCh37 Chromosome 22, 30091511: 30091511
35 NF2 NM_000268.3(NF2): c.*532G> T single nucleotide variant Uncertain significance rs886057346 GRCh37 Chromosome 22, 30091323: 30091323
36 NF2 NM_000268.3(NF2): c.*532G> T single nucleotide variant Uncertain significance rs886057346 GRCh38 Chromosome 22, 29695334: 29695334
37 NF2 NM_000268.3(NF2): c.*388C> T single nucleotide variant Uncertain significance rs777219109 GRCh37 Chromosome 22, 30091179: 30091179
38 NF2 NM_000268.3(NF2): c.*388C> T single nucleotide variant Uncertain significance rs777219109 GRCh38 Chromosome 22, 29695190: 29695190
39 NF2 NM_000268.3(NF2): c.*199C> A single nucleotide variant Uncertain significance rs886057342 GRCh37 Chromosome 22, 30090990: 30090990
40 NF2 NM_000268.3(NF2): c.*199C> A single nucleotide variant Uncertain significance rs886057342 GRCh38 Chromosome 22, 29695001: 29695001
41 NF2 NM_000268.3(NF2): c.*158T> C single nucleotide variant Uncertain significance rs886057341 GRCh37 Chromosome 22, 30090949: 30090949
42 NF2 NM_000268.3(NF2): c.*158T> C single nucleotide variant Uncertain significance rs886057341 GRCh38 Chromosome 22, 29694960: 29694960
43 NF2 NM_000268.3(NF2): c.*52C> A single nucleotide variant Likely benign rs370016332 GRCh37 Chromosome 22, 30090843: 30090843
44 NF2 NM_000268.3(NF2): c.*52C> A single nucleotide variant Likely benign rs370016332 GRCh38 Chromosome 22, 29694854: 29694854
45 NF2 NM_000268.3(NF2): c.*4G> A single nucleotide variant Benign/Likely benign rs141099051 GRCh37 Chromosome 22, 30090795: 30090795
46 NF2 NM_000268.3(NF2): c.*4G> A single nucleotide variant Benign/Likely benign rs141099051 GRCh38 Chromosome 22, 29694806: 29694806
47 NF2 NM_000268.3(NF2): c.886-15C> T single nucleotide variant Likely benign rs200837904 GRCh38 Chromosome 22, 29668318: 29668318
48 NF2 NM_000268.3(NF2): c.886-15C> T single nucleotide variant Likely benign rs200837904 GRCh37 Chromosome 22, 30064307: 30064307
49 NF2 NM_000268.3(NF2): c.240+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200701337 GRCh38 Chromosome 22, 29636891: 29636891
50 NF2 NM_000268.3(NF2): c.240+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200701337 GRCh37 Chromosome 22, 30032880: 30032880

Copy number variations for Neurofibromatosis, Type Ii from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 163629 22 29600000 32200000 Copy number NF2 Neurofibromatosis type 2
2 163466 22 28329544 28424589 Deletion loss NF2
3 163465 22 28329544 28424589 Deletion loss NF2

Expression for Neurofibromatosis, Type Ii

Search GEO for disease gene expression data for Neurofibromatosis, Type Ii.

Pathways for Neurofibromatosis, Type Ii

GO Terms for Neurofibromatosis, Type Ii

Cellular components related to Neurofibromatosis, Type Ii according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 EZR MSN NF2 RDX SLC9A3R1 TLR2
2 apical plasma membrane GO:0016324 9.8 EZR MSN RDX SLC9A3R1
3 basolateral plasma membrane GO:0016323 9.73 CADM1 EZR MSN
4 vesicle GO:0031982 9.72 EZR MSN SLC9A3R1
5 myelin sheath GO:0043209 9.71 EZR MSN RDX
6 cell body GO:0044297 9.63 EZR NF2 TLR2
7 ruffle GO:0001726 9.62 EZR NF2 RDX SLC9A3R1
8 microvillus GO:0005902 9.56 EZR MSN RDX SLC9A3R1
9 microvillus membrane GO:0031528 9.54 EZR MSN SLC9A3R1
10 sperm midpiece GO:0097225 9.52 DEFB1 SLC9A3R1
11 uropod GO:0001931 9.51 EZR MSN
12 invadopodium GO:0071437 9.48 EZR MSN
13 cell periphery GO:0071944 9.46 EZR MSN RDX SLC9A3R1
14 cell tip GO:0051286 9.4 EZR RDX
15 apical part of cell GO:0045177 9.35 EZR MSN NF2 RDX SLC9A3R1
16 filopodium GO:0030175 9.02 EZR MSN NF2 RDX SLC9A3R1

Biological processes related to Neurofibromatosis, Type Ii according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.92 DEFB1 DEFB4A IL1A TLR2
2 negative regulation of cell proliferation GO:0008285 9.92 IL1A NF1 NF2 SLC9A3R1 TLR2
3 positive regulation of gene expression GO:0010628 9.91 EZR IL1A MSN RDX TLR2
4 protein localization to plasma membrane GO:0072659 9.8 EPB41L3 EZR RDX SLC9A3R1
5 actin cytoskeleton organization GO:0030036 9.77 NF1 NF2 SLC9A3R1
6 negative regulation of cell migration GO:0030336 9.75 NF1 NF2 SLC9A3R1
7 defense response to Gram-positive bacterium GO:0050830 9.74 DEFB1 DEFB4A TLR2
8 regulation of cell shape GO:0008360 9.72 EPB41L3 EZR MSN RDX SLC9A3R1
9 microvillus assembly GO:0030033 9.65 EZR RDX SLC9A3R1
10 establishment of endothelial barrier GO:0061028 9.63 EZR MSN RDX
11 cAMP-mediated signaling GO:0019933 9.62 DEFB1 SLC9A3R1
12 leukocyte cell-cell adhesion GO:0007159 9.61 EZR MSN
13 positive regulation of cytokine secretion GO:0050715 9.61 CADM1 IL1A
14 establishment of epithelial cell apical/basal polarity GO:0045198 9.61 EZR MSN SLC9A3R1
15 negative regulation of MAPK cascade GO:0043409 9.6 NF1 NF2
16 negative regulation of cell-matrix adhesion GO:0001953 9.58 NF1 NF2
17 positive regulation of cellular protein catabolic process GO:1903364 9.58 EZR MSN RDX
18 protein kinase A signaling GO:0010737 9.56 EZR RDX
19 cytoskeletal anchoring at plasma membrane GO:0007016 9.55 EPB41L3 EZR
20 membrane to membrane docking GO:0022614 9.54 EZR MSN
21 gland morphogenesis GO:0022612 9.54 EZR MSN SLC9A3R1
22 positive regulation of early endosome to late endosome transport GO:2000643 9.43 EZR MSN RDX
23 positive regulation of protein localization to early endosome GO:1902966 9.33 EZR MSN RDX
24 regulation of organelle assembly GO:1902115 9.13 EZR MSN RDX
25 regulation of cell size GO:0008361 8.92 EZR MSN RDX SLC9A3R1

Molecular functions related to Neurofibromatosis, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 EPB41L3 EZR MSN NF2 RDX
2 protein kinase A binding GO:0051018 9.32 EZR RDX
3 CCR6 chemokine receptor binding GO:0031731 9.26 DEFB1 DEFB4A
4 cytoskeletal protein binding GO:0008092 9.02 EPB41L3 EZR MSN NF2 RDX
5 protein binding GO:0005515 10 CADM1 DEFB1 DEFB4A EPB41L3 ETV5 EZR

Sources for Neurofibromatosis, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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