BVMD
MCID: BST007
MIFTS: 36

Best Vitelliform Macular Dystrophy (BVMD)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Best Vitelliform Macular Dystrophy

MalaCards integrated aliases for Best Vitelliform Macular Dystrophy:

Name: Best Vitelliform Macular Dystrophy 24 53
Vitelliform Macular Dystrophy Type 2 24 53 29 6
Juvenile-Onset Vitelliform Macular Dystrophy 53 73
Best Macular Dystrophy 24 53
Macular Degeneration, Polymorphic Vitelline 53
Polymorphic Vitelline Macular Degeneration 53
Dystrophy, Macular, Vitelliform, Type 2 ) 40
Early-Onset Vitelliform Macular Dystrophy 53
Dystrophy, Macular, Vitelliform, Type 2 40
Vitelliform Macular Dystrophy 73
Best Disease 53
Vmd2 53
Bvmd 53

Characteristics:

GeneReviews:

24
Penetrance Best vitelliform macular dystrophy shows generally complete penetrance, especially when the eog is used as evidence of clinical expression. evidence for non-penetrance has been reported...

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Summaries for Best Vitelliform Macular Dystrophy

NIH Rare Diseases : 53 Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as  photoreceptors) and impaired central visual function. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents (bevacizumab) and transcorneal electrical retinal stimulation.

MalaCards based summary : Best Vitelliform Macular Dystrophy, also known as vitelliform macular dystrophy type 2, is related to vitelliform macular dystrophy and retinal disease. An important gene associated with Best Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Fatty acid metabolism and Fatty acid elongation. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are visual field defect and abnormality of color vision

GeneReviews: NBK1167

Related Diseases for Best Vitelliform Macular Dystrophy

Graphical network of the top 20 diseases related to Best Vitelliform Macular Dystrophy:



Diseases related to Best Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Best Vitelliform Macular Dystrophy

Human phenotypes related to Best Vitelliform Macular Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 visual field defect 32 occasional (7.5%) HP:0001123
2 abnormality of color vision 32 frequent (33%) HP:0000551
3 choroideremia 32 occasional (7.5%) HP:0001139
4 metamorphopsia 32 hallmark (90%) HP:0012508
5 cystoid macular degeneration 32 hallmark (90%) HP:0008028

Drugs & Therapeutics for Best Vitelliform Macular Dystrophy

Drugs for Best Vitelliform Macular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
rituximab Approved Phase 4,Phase 3,Phase 1,Phase 2 174722-31-7 10201696
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methotrexate Approved Phase 4,Phase 3,Phase 2 59-05-2, 1959-05-2 126941
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
leucovorin Approved Phase 4,Phase 3,Phase 2 58-05-9 6006 143
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Peripheral Nervous System Agents Phase 4
11 Hormones Phase 4
12 Methylprednisolone acetate Phase 4
13 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
14 Prednisolone acetate Phase 4
15 Dermatologic Agents Phase 4,Phase 3,Phase 2
16 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
17 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
18 Vitamin B Complex Phase 4,Phase 3,Phase 2
19 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 glucocorticoids Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Autonomic Agents Phase 4
24 Hormone Antagonists Phase 4
25 Neuroprotective Agents Phase 4
26 Antimetabolites Phase 4,Phase 3,Phase 2
27 Antiemetics Phase 4
28 Gastrointestinal Agents Phase 4
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
30 Folate Phase 4,Phase 3,Phase 2
31 Protective Agents Phase 4,Phase 2
32 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
33 Vitamin B9 Phase 4,Phase 3,Phase 2
34 Antineoplastic Agents, Hormonal Phase 4
35 tannic acid Approved Phase 3
36
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
37
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
38
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
39
Gemcitabine Approved Phase 2 95058-81-4 60750
40
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
41
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
42
alemtuzumab Approved, Investigational Phase 2 216503-57-0
43
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
44
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
45
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
46
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
47
Fluorouracil Approved Phase 2 51-21-8 3385
48
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
49
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
50
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 A Study of MabThera (Rituximab) in Patients With Rheumatoid Arthritis and an Inadequate Response to Methotrexate Completed NCT01000610 Phase 4 rituximab [MabThera/Rituxan];methotrexate;methylprednisolone
2 A Study of RoActemra/Actemra (Tocilizumab) in Adult Patients With Rheumatoid Arthritis (SVOBODA Programme) Completed NCT02010216 Phase 4 tocilizumab [RoActemra/Actemra]
3 A Study of Tocilizumab and Methotrexate Treatment Strategies (Adding Tocilizumab to Methotrexate Versus Switching to Tocilizumab) in Patients With Active Rheumatoid Arthritis With Inadequate Response to Prior Methotrexate Treatment Completed NCT00810199 Phase 3 tocilizumab [RoActemra/Actemra];methotrexate;placebo
4 An Extension to Study MA21573, Evaluating Tocilizumab in Patients With Active Rheumatoid Arthritis and an Inadequate Response to Current Non-Biological DMARDs and/or Anti-tumor Necrosis Factor (TNF) Therapy Completed NCT00883753 Phase 3 tocilizumab [RoActemra/Actemra]
5 A Study to Assess the Effect of Tocilizumab + Methotrexate on Prevention of Structural Joint Damage in Patients With Moderate to Severe Active Rheumatoid Arthritis (RA) Completed NCT00106535 Phase 3 tocilizumab [RoActemra/Actemra];Placebo;Methotrexate
6 A Study of Tocilizumab and Methotrexate in Combination or as Monotherapy in Treatment-Naïve Patients With Early Rheumatoid Arthritis Completed NCT01034137 Phase 3 methotrexate;placebo MTX;placebo TCZ;tocilizumab [RoActemra/Actemra]
7 A Study to Evaluate the Safety and Efficacy of MabThera (Rituximab) in Combination With Methotrexate (MTX) in Participants With Active Rheumatoid Arthritis Who Failed on Anti-Tumor Necrosis Factor Alpha Therapy Completed NCT00468546 Phase 3 MabThera/Rituxan;Methotrexate
8 Follicular Lymphoma IV/SC Rituximab Therapy (FLIRT) Recruiting NCT02303119 Phase 3 Rituximab IV;Rituximab SC
9 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
10 The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung Cancer Completed NCT00215930 Phase 2 Vinorelbine;Docetaxel;Gemcitabine;Carboplatin
11 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
12 Dose Finding Study of Namilumab in Combination With Methotrexate in Participants With Moderate to Severe Rheumatoid Arthritis (RA) Completed NCT02379091 Phase 2 Namilumab;Placebo;Methotrexate;Folic/folinic acid
13 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
14 FOLFOX-A in the Treatment of Metastatic or Advanced Unresectable Gastric, Gastro-Esophageal Junction Adenocarcinoma Recruiting NCT03283761 Phase 2 Nab-paclitaxel 150 mg/m^2;Oxaliplatin 85 mg/m^2;5-FU 1200 mg/m^2 x 2 D;Leucovorin 400 mg/m^2
15 Epigenetic Modulation of the immunE Response in GastrointEstinal Cancers (EMERGE) Recruiting NCT03812796 Phase 2 Domatinostat;Avelumab
16 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
17 A Study to Determine Dose, Safety, and Efficacy of Durvalumab as Monotherapy and in Combination Therapy in Subjects With Lymphoma or Chronic Lymphocytic Leukemia Active, not recruiting NCT02733042 Phase 1, Phase 2 Durvalumab;Lenalidomide;Rituximab;Ibrutinib;Bendamustine
18 Phase II Open Label Trial to Determine Safety & Efficacy of Tisagenlecleucel in Pediatric Non-Hodgkin Lymphoma Patients Not yet recruiting NCT03610724 Phase 2
19 Study Evaluating the Efficacy and Safety of JCAR015 in Adult B-cell Acute Lymphoblastic Leukemia (B-ALL) Terminated NCT02535364 Phase 2
20 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
21 Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
22 Pacritinib in Relapsed/Refractory Lymphoproliferative Disorders Not yet recruiting NCT03601819 Phase 1 Pacritinib
23 An Observational Study on RoActemra/Actemra (Tocilizumab) in Clinical Practice in Patients With Rheumatoid Arthritis (TRUST) Completed NCT01394276
24 A Retrospective, Observational Chart Review of Biologics in Monotherapy Versus the Combination Biologic Plus Methotrexate in Patients With Rheumatoid Arthritis Completed NCT01866150
25 A Non-Interventional Study of Rheumatoid Arthritis Patients Treated With RoActemra/Actemra (Tocilizumab) in Monotherapy Completed NCT01705730 tocilizumab
26 Observational Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01579006 Tocilizumab
27 A Non-Interventional Study of RoActemra/Actemra in Patients With Moderate to Severe Rheumatoid Arthritis Completed NCT01672970
28 A Non-interventional Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01562327 Tocilizumab
29 Cell Collection to Study Eye Diseases Recruiting NCT01432847
30 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
31 A Study to Characterize Profile of Participant With Psoriatic Arthritis Depending on Whether Their Disease is Managed by a Dermatologist or by a Rheumatologist, and Starting Ustekinumab Recruiting NCT03336281 Ustekinumab
32 A Study on Assessment of STELARA and Tumor Necrosis Factor Alpha Inhibitor Therapies in Participants With Psoriatic Arthritis Recruiting NCT02627768 No Intervention
33 A Study in Participants With a Newly Confirmed Diagnosis of Spondyloarthritis (SpA) Who Are New to Conventional, Targeted and Biological DMARDs Recruiting NCT03131661
34 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Best Vitelliform Macular Dystrophy

Genetic Tests for Best Vitelliform Macular Dystrophy

Genetic tests related to Best Vitelliform Macular Dystrophy:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy Type 2 29 BEST1

Anatomical Context for Best Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Best Vitelliform Macular Dystrophy:

41
Eye, Retina

Publications for Best Vitelliform Macular Dystrophy

Articles related to Best Vitelliform Macular Dystrophy:

(show top 50) (show all 69)
# Title Authors Year
1
Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy. ( 29656284 )
2018
2
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
3
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series. ( 29643786 )
2018
4
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
5
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
6
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
7
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
8
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
9
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
10
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
11
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
12
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
13
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
14
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
15
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
16
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
17
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
18
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
19
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
20
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2016
21
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
22
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
23
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
24
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
25
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
26
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
27
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
28
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
29
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
30
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
31
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
32
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
33
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
34
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
35
Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization. ( 23617333 )
2013
36
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. ( 22633354 )
2012
37
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. ( 22084158 )
2012
38
Intravitreal bevacizumab for choroidal neovascularization secondary to Best vitelliform macular dystrophy in a 6-year-old child. ( 22139615 )
2012
39
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. ( 22422030 )
2012
40
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. ( 21436265 )
2011
41
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. ( 21293734 )
2011
42
Preferential hyperacuity perimeter in best vitelliform macular dystrophy. ( 21242858 )
2011
43
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. ( 21320969 )
2011
44
Clinicopathologic findings in Best vitelliform macular dystrophy. ( 21136072 )
2011
45
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. ( 21473666 )
2011
46
Multimodal fundus imaging in Best vitelliform macular dystrophy. ( 20414784 )
2010
47
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial. ( 20847757 )
2010
48
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. ( 20057343 )
2010
49
Clinical and molecular genetic analysis of Best vitelliform macular dystrophy. ( 19357557 )
2009
50
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. ( 20057903 )
2009

Variations for Best Vitelliform Macular Dystrophy

Expression for Best Vitelliform Macular Dystrophy

Search GEO for disease gene expression data for Best Vitelliform Macular Dystrophy.

Pathways for Best Vitelliform Macular Dystrophy

Pathways related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 FADS1 FADS2
2
Show member pathways
10.68 FADS1 FADS2
3
Show member pathways
10.27 FADS1 FADS2

GO Terms for Best Vitelliform Macular Dystrophy

Cellular components related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 DDB1 FEN1

Biological processes related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid biosynthetic process GO:0006633 9.26 FADS1 FADS2
2 linoleic acid metabolic process GO:0043651 9.16 FADS1 FADS2
3 unsaturated fatty acid biosynthetic process GO:0006636 8.96 FADS1 FADS2
4 alpha-linolenic acid metabolic process GO:0036109 8.62 FADS1 FADS2

Molecular functions related to Best Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.62 DDB1 FEN1

Sources for Best Vitelliform Macular Dystrophy

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
Content
Loading form....