NF2
MCID: NRF023
MIFTS: 69

Neurofibromatosis, Type Ii (NF2)

Categories: Genetic diseases, Cardiovascular diseases, Skin diseases, Neuronal diseases, Ear diseases, Fetal diseases, Rare diseases, Eye diseases, Nephrological 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
Neurofibromatosis, Type 2 57 29 13 6 40
Acne Vulgaris 12 76 55 73
Neurofibromatosis Type 2 59 37 55
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
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 facial paralysis and sebaceous gland disease, and has symptoms including ataxia, headache and tinnitus. An important gene associated with Neurofibromatosis, Type Ii is NF2 (Neurofibromin 2), and among its related pathways/superpathways are Hippo signaling pathway and Cytoskeletal Signaling. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are ataxia and gait disturbance

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.

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.

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

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 291)
# Related Disease Score Top Affiliating Genes
1 facial paralysis 29.8 CADM1 NF2
2 sebaceous gland disease 29.7 DEFB4A IL1A SHBG TLR2
3 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.4
4 acne inversa, familial, 2, with or without dowling-degos disease 12.4
5 acne inversa, familial, 3 12.4
6 acne inversa, familial, 1 12.3
7 pyogenic arthritis, pyoderma gangrenosum and acne 12.3
8 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.1
9 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 12.0
10 hidradenitis suppurativa 11.9
11 sapho syndrome 11.8
12 acne, adult 11.8
13 anterior cutaneous nerve entrapment syndrome 11.8
14 rosacea 11.7
15 polycystic ovary syndrome 11.4
16 neurofibromatosis, type iv, of riccardi 11.3
17 dowling-degos disease 11.3
18 perifolliculitis capitis abscedens et suffodiens, familial 11.1
19 darier-white disease 11.1
20 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.1
21 skin conditions 11.1
22 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.1
23 granulomatous rosacea 11.1
24 pediatric ependymoma 11.0
25 aromatase deficiency 10.9
26 nevus comedonicus 10.9
27 isotretinoin syndrome 10.9
28 polydactyly, postaxial, type a1 10.8
29 isotretinoin embryopathy-like syndrome 10.8
30 lipoid proteinosis of urbach and wiethe 10.8
31 frank-ter haar syndrome 10.8
32 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.8
33 acth-secreting pituitary adenoma 10.8
34 premenstrual tension 10.8
35 47,xyy 10.8
36 48,xyyy 10.8
37 fetal retinoid syndrome 10.8
38 hair-an syndrome 10.8
39 central precocious puberty 10.8
40 familial male-limited precocious puberty 10.8
41 benign ependymoma 10.6 EPB41L3 NF2
42 vaginal disease 10.6 DEFB4A EZR
43 corneal abscess 10.5 DEFB1 DEFB4A
44 osteonecrosis of the jaw 10.5 DEFB1 DEFB4A
45 benign meningioma 10.5 EPB41L3 NF2
46 vaginitis 10.5 DEFB4A EZR
47 deafness, autosomal recessive 24 10.4 EZR MSN RDX
48 hidradenitis 10.4
49 synovitis 10.4
50 hyperostosis 10.4

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, headache, tinnitus, exanthema, pruritus

MGI Mouse Phenotypes related to Neurofibromatosis, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CADM1 EPB41L3 ETV5 NF1 NF2 RDX
2 neoplasm MP:0002006 9.02 EPB41L3 IL1A NF1 NF2 TLR2

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.

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2,Early Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2,Early Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2,Early Phase 1 53123-88-9 5284616 6436030 46835353
4
Bevacizumab Approved, Investigational Phase 2 216974-75-3
5
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
6
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
7
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
8
Adenosine Approved, Investigational Phase 2 58-61-7 60961
9
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
11
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
12
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
13
nivolumab Approved Phase 2 946414-94-4
14
Osimertinib Approved Phase 2 1421373-65-0 71496458
15
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
16
Racepinephrine Approved Phase 2 329-65-7 838
17
Trametinib Approved Phase 2 871700-17-3 11707110
18
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
19
Olaparib Approved Phase 2 763113-22-0 23725625
20
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
21
Lapatinib Approved March 2007, Investigational Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
22
Lactitol Investigational Phase 2 585-86-4 3871
23 Protein Kinase Inhibitors Phase 2,Phase 1,Early Phase 1
24 Anti-Bacterial Agents Phase 2,Early Phase 1
25 Antibiotics, Antitubercular Phase 2,Early Phase 1
26 Antifungal Agents Phase 2,Early Phase 1
27 Anti-Infective Agents Phase 2,Early Phase 1
28 Immunosuppressive Agents Phase 2,Early Phase 1
29 Angiogenesis Inhibitors Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Endostatins Phase 2 71581480
32 Antibodies Phase 2
33 Antibodies, Monoclonal Phase 2
34 Immunoglobulins Phase 2
35 Cytochrome P-450 CYP3A Inducers Phase 2
36 Ado-trastuzumab emtansine Phase 2
37 Antimitotic Agents Phase 2
38 Antineoplastic Agents, Phytogenic Phase 2
39 Epinephryl borate Phase 2
40 Immunoconjugates Phase 2
41 Maytansine Phase 2
42
s 1 (combination) Phase 2
43
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
44 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
45 Analgesics Phase 2
46 Analgesics, Non-Narcotic Phase 2
47 Anti-Inflammatory Agents Phase 2
48 Anti-Inflammatory Agents, Non-Steroidal Phase 2
49 Antipyretics Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

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

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

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, Brain, Spinal Cord, Testes, Lung, Retina

Publications for Neurofibromatosis, Type Ii

Articles related to Neurofibromatosis, Type Ii:

(show top 50) (show all 199)
# Title Authors Year
1
Chemopreventative celecoxib fails to prevent schwannoma formation or sensorineural hearing loss in genetically engineered murine model of neurofibromatosis type 2. ( 29416648 )
2018
2
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 28696935 )
2017
3
Sight preserving orbital decompression: a novel multidisciplinary approach to managing severe proptosis in neurofibromatosis type 2. ( 28798249 )
2017
4
Cranial irradiation in childhood mimicking neurofibromatosis type II. ( 28422417 )
2017
5
Cochlear implants in the management of hearing loss in Neurofibromatosis Type 2. ( 28335700 )
2017
6
Reduced RAC1 activity inhibits cell proliferation and induces apoptosis in neurofibromatosis type 2(NF2)-associated schwannoma. ( 28934903 )
2017
7
p53 performs an essential role in mediating the oncogenic stimulus triggered by loss of expression of neurofibromatosis type 2 during<i>in vitro</i>tumor progression. ( 28789444 )
2017
8
Aneurysms in neurofibromatosis type 2: Evidence for vasculopathy? ( 28429859 )
2017
9
A systematic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas. ( 28882713 )
2017
10
Corneal Myofibroma (Keloid) in a Young Patient with Neurofibromatosis Type 2. ( 29344474 )
2017
11
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. ( 29061681 )
2017
12
Two Cases of Spinal Tanycytic Ependymoma Associated with Neurofibromatosis Type 2. ( 28345553 )
2017
13
Appendiceal ganglioneuroma in neurofibromatosis type 2. ( 28578246 )
2017
14
Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review. ( 28900754 )
2017
15
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 27856782 )
2017
16
Gastric plexiform schwannoma in association with neurofibromatosis type 2. ( 27696205 )
2016
17
Erratum: Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. ( 27231815 )
2016
18
Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group. ( 27655473 )
2016
19
Mechanism-based modeling of the clinical effects of bevacizumab and everolimus on vestibular schwannomas of patients with neurofibromatosis type 2. ( 27146400 )
2016
20
Hearing Restoration in Neurofibromatosis Type II Patients. ( 27189272 )
2016
21
Growth dynamics of intramedullary spinal tumors in patients with neurofibromatosis type 2. ( 27208873 )
2016
22
Low-dose bevacizumab induces radiographic regression of vestibular schwannomas in neurofibromatosis type 2: A case report and literature review. ( 27123050 )
2016
23
Bilateral internal auditory canal gangliogliomas mimicking neurofibromatosis Type II. ( 27127704 )
2016
24
YAP mediates tumorigenesis in neurofibromatosis type 2 by promoting cell survival and proliferation through a COX2-EGFR signaling axis. ( 27216189 )
2016
25
[A giant hyperostotic parasagittal meningioma in a child with neurofibromatosis type II (a case report and literature review)]. ( 28139575 )
2016
26
Neurofibromatosis type 2 (NF 2) or schwannomatosis? - Case report study and diagnostic criteria. ( 27154453 )
2016
27
Multifocal granulocytic sarcoma of the spine mimicking neurofibromatosis Type 2: case report. ( 27176110 )
2016
28
Neurofibromatosis type 2 patient presenting with medulloblastoma. ( 26539318 )
2015
29
Clinical course and management of intracranial meningiomas in neurofibromatosis type 2 patients. ( 26652870 )
2015
30
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. ( 26407091 )
2015
31
Cilioretinal Artery Territory Infarction Associated With Papilledema in a Patient With Neurofibromatosis Type 2. ( 26295608 )
2015
32
Intractable yawning caused by foramen magnum meningioma in a patient with neurofibromatosis type 2. ( 25751482 )
2015
33
Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study. ( 26139580 )
2015
34
Neurosurgery Concepts: Key perspectives on quality of life in children with spina bifida, cilengitide for the treatment of newly diagnosed glioblastoma, surgery and stereotactic radiosurgery in the management of intracranial metastasis, Gamma Knife radiosurgery in patients with Neurofibromatosis Type 2, patient misconceptions on the diagnosis and treatment of lumbar spondylosis. ( 26167362 )
2015
35
Commentary on: 'Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study'. ( 26070489 )
2015
36
Neurofibromatosis type 2. ( 26043141 )
2015
37
Leptomeningeal Angiomatosis in a Case of Neurofibromatosis Type 2: An Unusual Finding. ( 26510155 )
2015
38
Neurofibromatosis type 2. ( 26564072 )
2015
39
Reduced dosage of bevacizumab in treatment of vestibular schwannomas in patients with neurofibromatosis type 2. ( 25794543 )
2015
40
Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. ( 26356002 )
2015
41
Primary meningeal melanoma with cerebrospinal fluid dissemination mimicking neurofibromatosis type 2. ( 26200063 )
2015
42
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. ( 24414536 )
2014
43
Novel neurofibromatosis type 2 mutation presenting with status epilepticus. ( 24667735 )
2014
44
Translabyrinthine resection of neurofibromatosis type 2 associated vestibular and facial schwannomas, repair of facial nerve, and placement of auditory brainstem implant. ( 24380525 )
2014
45
A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma. ( 25406210 )
2014
46
Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients. ( 24335938 )
2014
47
Ipsilateral cochlear implantation after cochlear nerve preserving vestibular schwannoma surgery in patients with neurofibromatosis type 2. ( 24335931 )
2014
48
Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes. ( 25549701 )
2014
49
Spinal tanycytic ependymoma associated with neurofibromatosis type 2. ( 24495349 )
2014
50
Characterization of early onset neurofibromatosis type 2. ( 23414620 )
2014

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 572)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF2 NM_000268.3(NF2): c.1079T> C (p.Leu360Pro) single nucleotide variant Pathogenic rs74315492 GRCh37 Chromosome 22, 30067894: 30067894
2 NF2 NM_000268.3(NF2): c.1079T> C (p.Leu360Pro) single nucleotide variant Pathogenic rs74315492 GRCh38 Chromosome 22, 29671905: 29671905
3 NF2 NM_000268.3(NF2): c.240+1G> T single nucleotide variant Pathogenic rs587776562 GRCh37 Chromosome 22, 30032866: 30032866
4 NF2 NM_000268.3(NF2): c.240+1G> T single nucleotide variant Pathogenic rs587776562 GRCh38 Chromosome 22, 29636877: 29636877
5 NF2 NM_000268.3(NF2): c.1604T> C (p.Leu535Pro) single nucleotide variant Pathogenic rs74315493 GRCh37 Chromosome 22, 30077457: 30077457
6 NF2 NM_000268.3(NF2): c.1604T> C (p.Leu535Pro) single nucleotide variant Pathogenic rs74315493 GRCh38 Chromosome 22, 29681468: 29681468
7 NF2 NM_000268.3(NF2): c.1613A> C (p.Gln538Pro) single nucleotide variant Pathogenic rs74315494 GRCh37 Chromosome 22, 30077466: 30077466
8 NF2 NM_000268.3(NF2): c.1613A> C (p.Gln538Pro) single nucleotide variant Pathogenic rs74315494 GRCh38 Chromosome 22, 29681477: 29681477
9 NF2 NM_000268.3(NF2): c.286_288delTTC (p.Phe96del) deletion Pathogenic rs121434260 GRCh37 Chromosome 22, 30035124: 30035126
10 NF2 NM_000268.3(NF2): c.286_288delTTC (p.Phe96del) deletion Pathogenic rs121434260 GRCh38 Chromosome 22, 29639135: 29639137
11 NF2 NM_000268.3(NF2): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs74315495 GRCh37 Chromosome 22, 30051610: 30051610
12 NF2 NM_000268.3(NF2): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs74315495 GRCh38 Chromosome 22, 29655621: 29655621
13 NF2 NM_000268.3(NF2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs74315496 GRCh37 Chromosome 22, 30057302: 30057302
14 NF2 NM_000268.3(NF2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs74315496 GRCh38 Chromosome 22, 29661313: 29661313
15 NF2 NM_000268.3(NF2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs74315497 GRCh37 Chromosome 22, 30064394: 30064394
16 NF2 NM_000268.3(NF2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs74315497 GRCh38 Chromosome 22, 29668405: 29668405
17 NF2 NM_000268.3(NF2): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs74315499 GRCh37 Chromosome 22, 30067836: 30067836
18 NF2 NM_000268.3(NF2): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs74315499 GRCh38 Chromosome 22, 29671847: 29671847
19 NF2 NM_000268.3(NF2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs74315501 GRCh37 Chromosome 22, 30069354: 30069354
20 NF2 NM_000268.3(NF2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs74315501 GRCh38 Chromosome 22, 29673365: 29673365
21 NF2 NM_000268.3(NF2): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs74315503 GRCh37 Chromosome 22, 30070871: 30070871
22 NF2 NM_000268.3(NF2): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs74315503 GRCh38 Chromosome 22, 29674882: 29674882
23 NF2 NM_000268.3(NF2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs74315504 GRCh37 Chromosome 22, 30070880: 30070880
24 NF2 NM_000268.3(NF2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs74315504 GRCh38 Chromosome 22, 29674891: 29674891
25 NF2 NM_000268.3(NF2): c.1579G> T (p.Glu527Ter) single nucleotide variant Pathogenic rs74315505 GRCh37 Chromosome 22, 30077432: 30077432
26 NF2 NM_000268.3(NF2): c.1579G> T (p.Glu527Ter) single nucleotide variant Pathogenic rs74315505 GRCh38 Chromosome 22, 29681443: 29681443
27 NF2 NM_000268.3(NF2): c.185T> C (p.Phe62Ser) single nucleotide variant Pathogenic rs121434261 GRCh37 Chromosome 22, 30032810: 30032810
28 NF2 NM_000268.3(NF2): c.185T> C (p.Phe62Ser) single nucleotide variant Pathogenic rs121434261 GRCh38 Chromosome 22, 29636821: 29636821
29 NF2 NM_181832.2(NF2): c.1540A> G (p.Met514Val) single nucleotide variant Uncertain significance rs201527155 GRCh38 Chromosome 22, 29678289: 29678289
30 NF2 NM_181832.2(NF2): c.1540A> G (p.Met514Val) single nucleotide variant Uncertain significance rs201527155 GRCh37 Chromosome 22, 30074278: 30074278
31 NF2 NM_000268.3(NF2): c.-443-?_*3798+?del deletion Pathogenic
32 NF2 NM_000268.3(NF2): c.12C> T (p.Ala4=) single nucleotide variant Benign/Likely benign rs144477078 GRCh38 Chromosome 22, 29604010: 29604010
33 NF2 NM_000268.3(NF2): c.12C> T (p.Ala4=) single nucleotide variant Benign/Likely benign rs144477078 GRCh37 Chromosome 22, 29999999: 29999999
34 NF2 NM_000268.3(NF2): c.391A> C (p.Ile131Leu) single nucleotide variant Uncertain significance rs878853927 GRCh37 Chromosome 22, 30038218: 30038218
35 NF2 NM_000268.3(NF2): c.391A> C (p.Ile131Leu) single nucleotide variant Uncertain significance rs878853927 GRCh38 Chromosome 22, 29642229: 29642229
36 NF2 NM_000268.3(NF2): c.448-5T> C single nucleotide variant Likely benign rs878853928 GRCh38 Chromosome 22, 29654652: 29654652
37 NF2 NM_000268.3(NF2): c.448-5T> C single nucleotide variant Likely benign rs878853928 GRCh37 Chromosome 22, 30050641: 30050641
38 NF2 NM_000268.3(NF2): c.613A> G (p.Met205Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141629512 GRCh38 Chromosome 22, 29658202: 29658202
39 NF2 NM_000268.3(NF2): c.613A> G (p.Met205Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141629512 GRCh37 Chromosome 22, 30054191: 30054191
40 NF2 NM_000268.3(NF2): c.1077G> A (p.Arg359=) single nucleotide variant Likely benign rs878853923 GRCh37 Chromosome 22, 30067892: 30067892
41 NF2 NM_000268.3(NF2): c.1077G> A (p.Arg359=) single nucleotide variant Likely benign rs878853923 GRCh38 Chromosome 22, 29671903: 29671903
42 NF2 NM_000268.3(NF2): c.1113C> T (p.Asn371=) single nucleotide variant Benign/Likely benign rs142459414 GRCh38 Chromosome 22, 29671939: 29671939
43 NF2 NM_000268.3(NF2): c.1113C> T (p.Asn371=) single nucleotide variant Benign/Likely benign rs142459414 GRCh37 Chromosome 22, 30067928: 30067928
44 NF2 NM_000268.3(NF2): c.1123-6C> T single nucleotide variant Benign/Likely benign rs147898623 GRCh38 Chromosome 22, 29673263: 29673263
45 NF2 NM_000268.3(NF2): c.1123-6C> T single nucleotide variant Benign/Likely benign rs147898623 GRCh37 Chromosome 22, 30069252: 30069252
46 NF2 NM_000268.3(NF2): c.1248G> A (p.Ala416=) single nucleotide variant Likely benign rs759993776 GRCh38 Chromosome 22, 29673394: 29673394
47 NF2 NM_000268.3(NF2): c.1248G> A (p.Ala416=) single nucleotide variant Likely benign rs759993776 GRCh37 Chromosome 22, 30069383: 30069383
48 NF2 NM_000268.3(NF2): c.1340+8G> T single nucleotide variant Benign/Likely benign rs370604189 GRCh37 Chromosome 22, 30069483: 30069483
49 NF2 NM_000268.3(NF2): c.1340+8G> T single nucleotide variant Benign/Likely benign rs370604189 GRCh38 Chromosome 22, 29673494: 29673494
50 NF2 NM_000268.3(NF2): c.1385G> A (p.Arg462His) single nucleotide variant Uncertain significance rs373650983 GRCh38 Chromosome 22, 29674880: 29674880

Copy number variations for Neurofibromatosis, Type Ii from CNVD:

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

Expression for Neurofibromatosis, Type Ii

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

Pathways for Neurofibromatosis, Type Ii

Pathways related to Neurofibromatosis, Type Ii according to KEGG:

37
# Name Kegg Source Accession
1 Hippo signaling pathway hsa04390

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 regulation of cell shape GO:0008360 9.77 EPB41L3 EZR MSN RDX SLC9A3R1
7 negative regulation of cell migration GO:0030336 9.75 NF1 NF2 SLC9A3R1
8 defense response to Gram-positive bacterium GO:0050830 9.74 DEFB1 DEFB4A TLR2
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 positive regulation of cytokine secretion GO:0050715 9.61 CADM1 IL1A
13 leukocyte cell-cell adhesion GO:0007159 9.61 EZR MSN
14 establishment of epithelial cell apical/basal polarity GO:0045198 9.61 EZR MSN SLC9A3R1
15 negative regulation of MAPK cascade GO:0043409 9.59 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 cytoskeletal anchoring at plasma membrane GO:0007016 9.56 EPB41L3 EZR
19 protein kinase A signaling GO:0010737 9.55 EZR RDX
20 membrane to membrane docking GO:0022614 9.54 EZR MSN
21 gland morphogenesis GO:0022612 9.5 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 cell adhesion molecule binding GO:0050839 9.5 CADM1 EZR MSN
2 protein kinase A binding GO:0051018 9.37 EZR RDX
3 actin binding GO:0003779 9.35 EPB41L3 EZR MSN NF2 RDX
4 CCR6 chemokine receptor binding GO:0031731 9.26 DEFB1 DEFB4A
5 cytoskeletal protein binding GO:0008092 9.02 EPB41L3 EZR MSN NF2 RDX
6 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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