LSA
MCID: LCH016
MIFTS: 47

Lichen Sclerosus Et Atrophicus (LSA)

Categories: Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Lichen Sclerosus Et Atrophicus

MalaCards integrated aliases for Lichen Sclerosus Et Atrophicus:

Name: Lichen Sclerosus Et Atrophicus 57 19 75 71 31 33
Lichen Sclerosus 19 53 75 33
Lsa 57 75
Ls Et a - [lichen Sclerosus Et Atrophicus] 33
Lichen Sclerosis Et Atrophicus 19
Lichen Sclerosis 19
Lichen Albus 33

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 151590
ICD10 31 L90.0
MedGen 40 C0023652
SNOMED-CT via HPO 69 28899001 402815007 68453008
ICD11 33 2076834974
UMLS 71 C0023652

Summaries for Lichen Sclerosus Et Atrophicus

GARD: 19 Lichen sclerosus (LS) affects the skin leading to scarring around the genital and anal areas. It mainly affects the skin around the vagina, anus, and tip of the penis. Symptoms can include white lesions or plaques, pain during urination, itching, and pain during intercourse. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. The underlying cause of Lichen sclerosus is not known, but it is thought to relate to an autoimmune process. Diagnosis is based on the symptoms and clinical exam. A skin biopsy may be done to confirm the diagnosis.

MalaCards based summary: Lichen Sclerosus Et Atrophicus, also known as lichen sclerosus, is related to phimosis and fungal infectious disease. An important gene associated with Lichen Sclerosus Et Atrophicus is ECM1 (Extracellular Matrix Protein 1), and among its related pathways/superpathways are NF-kappaB Signaling and Innate Lymphoid Cells Differentiation. The drugs Petrolatum and Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and breast, and related phenotypes are squamous cell carcinoma and carcinoma

Wikipedia: 75 Lichen sclerosus (LS) is a chronic, inflammatory skin disease of unknown cause which can affect any body... more...

More information from OMIM: 151590

Related Diseases for Lichen Sclerosus Et Atrophicus

Diseases related to Lichen Sclerosus Et Atrophicus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 406)
# Related Disease Score Top Affiliating Genes
1 phimosis 31.0 ELN ECM1
2 fungal infectious disease 30.8 TLR4 MYD88 CD8A
3 primary biliary cholangitis 30.8 TLR4 GZMB CD8A
4 filarial elephantiasis 30.6 TLR4 CD8A
5 viral infectious disease 30.2 TLR4 MYD88 GZMB
6 panniculitis 30.1 TIA1 GZMB CD8A
7 celiac disease 1 29.9 TLR4 TIA1 MYD88 GZMB CD8A
8 anogenital venereal wart 29.9 TLR4 MYD88 CD8A
9 erysipelas 29.7 ELN CD8A
10 connective tissue disease 29.6 TLR4 MYD88 ELN CD8A CD44
11 skin disease 29.3 TLR4 MYD88 GZMB ELN ECM1 CD8A
12 lipoprotein quantitative trait locus 29.2 TLR4 MYD88 ELN CD8A
13 localized scleroderma 11.1
14 systemic scleroderma 10.9
15 vulva squamous cell carcinoma 10.8
16 balanitis xerotica obliterans 10.8
17 lichen planus 10.8
18 balanitis 10.8
19 urethral stricture 10.7
20 vitiligo-associated multiple autoimmune disease susceptibility 6 10.7
21 vitiligo-associated multiple autoimmune disease susceptibility 1 10.7
22 penile cancer 10.7
23 lyme disease 10.6
24 leukoplakia 10.6
25 acrodermatitis 10.6
26 penile benign neoplasm 10.6
27 malignant tumor of penis 10.6
28 mycosis fungoides 10.6
29 graft-versus-host disease 10.6
30 acrodermatitis chronica atrophicans 10.6
31 vulva cancer 10.6
32 liver cirrhosis 10.6
33 penis squamous cell carcinoma 10.6
34 penile cancer, adult 10.6
35 rapidly involuting congenital hemangioma 10.5
36 systemic lupus erythematosus 10.5
37 systemic lupus erythematosus 1 10.5
38 balanoposthitis 10.5
39 lupus erythematosus 10.5
40 alopecia 10.5
41 chronic graft versus host disease 10.5
42 dilution, pigmentary 10.4
43 dermatitis, atopic 10.4
44 basal cell carcinoma 1 10.4
45 keratosis 10.4
46 melanoma 10.4
47 basal cell carcinoma 10.4
48 dermatitis 10.4
49 skin atrophy 10.4
50 contact dermatitis 10.4

Graphical network of the top 20 diseases related to Lichen Sclerosus Et Atrophicus:



Diseases related to Lichen Sclerosus Et Atrophicus

Symptoms & Phenotypes for Lichen Sclerosus Et Atrophicus

Human phenotypes related to Lichen Sclerosus Et Atrophicus:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 squamous cell carcinoma 30 HP:0002860
2 carcinoma 30 HP:0030731

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
lichen sclerosus et atrophicus
ivory-colored, polygonal, flat-topped lichenoid papules
papules may coalesce into atrophic plaques

Oncology:
vulvar lsa may predispose to squamous cell carcinoma

Clinical features from OMIM®:

151590 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lichen Sclerosus Et Atrophicus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.76 CD44 CD8A ECM1 GZMB MYD88 RARB
2 renal/urinary system MP:0005367 9.73 CD44 CD8A HMBS MYD88 RARB TLR4
3 hematopoietic system MP:0005397 9.61 CD44 CD8A ECM1 GZMB HMBS MYD88
4 mortality/aging MP:0010768 9.32 CD44 CD8A ECM1 ELN GZMB HMBS

Drugs & Therapeutics for Lichen Sclerosus Et Atrophicus

Drugs for Lichen Sclerosus Et Atrophicus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Petrolatum Approved, Investigational Phase 4 8009-03-8
2
Clobetasol Approved, Experimental, Investigational Phase 3 25122-46-7, 25122-41-2 2791 5311051 32798
3 Dermatologic Agents Phase 3
4 Emollients Phase 3
5 Hormones Phase 3
6 Hormone Antagonists Phase 3
7 glucocorticoids Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Mitogens Phase 3
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
11
Pimecrolimus Approved, Investigational Phase 2 137071-32-0 17753757 6509979
12
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
13 Calcineurin Inhibitors Phase 2
14 Immunosuppressive Agents Phase 2
15 Immunologic Factors Phase 2
16 Antirheumatic Agents Phase 2
17 Anti-Inflammatory Agents, Non-Steroidal Phase 2
18 Analgesics, Non-Narcotic Phase 2
19 Analgesics Phase 2
20 Progestins Phase 2
21
Betamethasone Approved, Vet_approved 378-44-9 9782
22
Methylene blue Approved, Investigational 61-73-4 6099
23
Ethanol Approved 64-17-5 702
24
Aminolevulinic acid Approved 106-60-5 137
25
Mometasone furoate Approved, Investigational, Vet_approved 83919-23-7 4240 441336
26
Cortisone Experimental 53-06-5 222786
27 Anti-Asthmatic Agents
28 Betamethasone-17,21-dipropionate
29
Betamethasone Valerate 2152-44-5
30
Betamethasone sodium phosphate
31
Betamethasone benzoate
32 Respiratory System Agents
33 Estrogens
34 Acidophilus
35 Lidocaine, Prilocaine Drug Combination
36 Anesthetics, Local
37 Anesthetics
38 Anti-Allergic Agents
39 Photosensitizing Agents

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial of Vulvar Fractionated CO2-Laser Therapy With and Without Concomitant Topical Clobetasol Propionate 0.05% Ointment for Treatment of Vulvar Lichen Sclerosus Active, not recruiting NCT04951206 Phase 4 Clobetasol Propionate 0.05% Ointment
2 A Randomized Trial of Clobetasol Propionate Versus Fractionated CO2 Laser for the Treatment of Lichen Sclerosus (CuRLS) Completed NCT02573883 Phase 3 Clobetasol Propionate 0.05% ointment
3 A Randomized, Unblinded Trial of Topical Steroids Plus CO2 Laser Compared to Steroids Alone in the Treatment of Vulvovaginal Lichen Sclerosus Recruiting NCT05243563 Phase 2, Phase 3 Topical steroid
4 CO2 Non-ablative Laser Versus Topical Clobetasol for Lichen Sclerosus: a Prospective, Open-label, Randomized Trial Recruiting NCT05010421 Phase 3 Clobetasol 0.05% Emollient Top Cream
5 Randomized Clinical Trial, Controlled to Conventional Treatment, to Evaluate the Efficacy of Plasma Rich in Growth Factors (PRGF) for the Treatment of Lichen Sclerosus Atrophicus of the Vulva Not yet recruiting NCT05364515 Phase 3 PRGF;Clobetasol Propionate
6 A Double Blind Phase II Study Comparing Safety and Efficacy of Tacrolimus Versus Topical Clobetasol Propionate in the Treatment of Vulvar Lichen Sclerosus. Completed NCT00757874 Phase 2 Tacrolimus cream;Clobetasol cream
7 A Double-Blind, Parallel-group Trial of Topical Pimecrolimus Cream 1% (Elidel®) Versus Clobetasol 0.05% Cream for the Treatment of Vulvar Lichen Sclerosus Completed NCT00393263 Phase 2 pimecrolimus and clobetasol;clobetasol 0.05% cream
8 Pilot Study of Vulvar Lichen Sclerosus (VLS) Treatment Using Adipose Tissue Associated With Autologous Platelet-rich Plasma (PRP). Completed NCT03961126 Phase 2 Injection of autologous fatty tissue associated with autologous platelet-rich plasma.;Corticosteroids (clobetasol 0.05%)
9 A Pilot, Randomized, Blinded, Controlled Study Evaluating Autologous Platelet-Rich Plasma for the Treatment of Vulvar Lichen Sclerosus Recruiting NCT04967170 Phase 1, Phase 2
10 A Phase 2, Randomized, Double-Blind, Vehicle-Controlled, Study of the Efficacy and Safety of Ruxolitinib Cream in Participants With Lichen Sclerosus Not yet recruiting NCT05593445 Phase 2 Ruxolitinib cream;Vehicle cream
11 Efficacy of a Topic Therapy With Progesterone Compared to the Conventional Therapy With Clobetasol Propionate in Patients With Vulvar Lichen Sclerosus. A Double Blind, Randomized Phase II Pilot Study. Terminated NCT01126255 Phase 2 Clobetasol propionate 0.05%;Progesterone 8%
12 Efficacy of Nd:Yttrium Aluminum Garnet Laser Treatment of Lichen Sclerosus Unknown status NCT03525522 Topical corticosteroid Diprosone
13 Safety and Efficacy of Er:YAG and Nd:YAG Laser Therapy in Gynecology: A Retrospective Case Series. Unknown status NCT04073082
14 Discovery and Validation of Biomarkers of Lichen Sclerosus Unknown status NCT03561428
15 Low-Level Laser Therapy: an Efficient Supplement to Treatments of Vulvar Lichen Sclerosus to Improve Quality of Life Completed NCT05060224
16 Clinical Study of the CO2RE® Laser Device for Treatment of Vulvar Lichen Sclerosus Completed NCT04148651
17 The Comfort and Adherence of Rivelin® Plain Patches in Vulva Lichen Sclerosus Patients Completed NCT03686800
18 Fractional / Pixel CO2 Laser Treatment of Vulvar Atrophy and Lichen Sclerosus Completed NCT03063684
19 Diagnostic Accuracy of "Three Rings Vulvoscopy" for Detection of Vulvar Dermatosis Completed NCT02732145
20 Autologous Platelet Rich Plasma Intradermal Injections for Vulvar Lichen Sclerosus Completed NCT02794363
21 A Double Blind Placebo Controlled Trial of Autologous Platelet Rich Plasma (PRP) Intradermal Injections for the Treatment of Vulvar Lichen Sclerosus Completed NCT03045172 Placebo
22 Lichen Sclerosus - the Influence on Quality of Life Completed NCT03419377
23 A Double Blinded Sham Controlled Trial of Fractional CO2 Laser Treatment Using the DEKA SmartXide Touch Laser System (MonaLisa Touch) for the Treatment of Vulvar Lichen Sclerosus Completed NCT03665584
24 Efficacy and Safety of the Neodymium Laser in Treatment of Urogenital Tract Diseases in Women Completed NCT05251220
25 Vulvar Lichen Sclerosus: Therapeutic Comparison Between Clobetasol Propionate, Photodynamic Therapy and Low-Intensity Laser Completed NCT02416531 Clobetasol propionate
26 Characterizing the Microbiome in Postmenopausal Women With Vulvar Lichen Sclerosus Completed NCT05147129
27 A Randomized Clinical Study Comparing Topical 0.05% Clobetasol Propianate in Vaseline With UVA-1 Phototherapy in the Treatment of Vulvar Lichen Sclerosus Completed NCT01400022
28 Post-marketing Surveillance of a Flexible Wound Dressing for the Management of Genital Skin Conditions Completed NCT05396261
29 Laser Therapy in Women With Lichenoid Disorders: A Randomized Controlled Trial Recruiting NCT04697563
30 A Comparative Study on the Efficacy of AI Temperature-controlled Radiofrequency Technology and Electrical Stimulation in the Treatment of Vulvar Leukoplakia Recruiting NCT05250466
31 Safety and Efficacy of Carbon Dioxide(CO2)Fractional Laser Combined With Photodynamic Therapy in the Treatment of Female Vulvar Lichen Sclerosus Recruiting NCT05228483 Mometasone furoate (MMF) 0.1% ointment
32 Nonfat Grafting in Male and Female Genital Lichen Sclerosus Recruiting NCT05464290
33 Effect of Treatment With the Ablative Fractional Carbodioxide Laser in Vulvar Lichen Sclerosis Active, not recruiting NCT04107454
34 Prospective, Randomized, Active-controlled Investigator Initiated Clinical Trial to Demonstrate That the Nd:YAG/Er:YAG Dual Laser Therapy is Effective to Treat Vulvar Lichen Sclerosus and Similar to Standard Treatment With Steroid Cream Active, not recruiting NCT03926299 Clobetasol propionate 0.05% ointment
35 Effectiveness of Ablative Fractional 2940 nm Laser Treatment for Vulvar Lichen Sclerosus Active, not recruiting NCT04134494
36 Early Detection of Vulval CAncer Through Self-Examination (EDuCATE): Intervention Study A Feasibility Study of Interventions to Promote Vulval Self-examination in Women at Increased Risk of Vulval Cancer Not yet recruiting NCT04952961
37 Evaluation of the Role of Vibrational Spectroscopy in the Assessment of Vulval Disease Suspended NCT02223975
38 Development of a Vulvar Scarring Grading Scale for Lichen Sclerosus Terminated NCT02880904
39 Open Ended Chart Review of Adult Women Presenting to the Vulvar Mucosal Specialty Clinic at Northwestern University Department of Dermatology Terminated NCT02881229

Search NIH Clinical Center for Lichen Sclerosus Et Atrophicus

Genetic Tests for Lichen Sclerosus Et Atrophicus

Anatomical Context for Lichen Sclerosus Et Atrophicus

Organs/tissues related to Lichen Sclerosus Et Atrophicus:

MalaCards : Skin, T Cells, Breast, Bone Marrow, Thyroid, Lymph Node, Smooth Muscle

Publications for Lichen Sclerosus Et Atrophicus

Articles related to Lichen Sclerosus Et Atrophicus:

(show top 50) (show all 2508)
# Title Authors PMID Year
1
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. 53 62 57
12867112 2003
2
Interleukin 1 receptor antagonist gene polymorphism association with lichen sclerosus. 62 57
7927338 1994
3
Familial occurrence of lichen sclerosus et atrophicus. Case reports of a mother and daughter. 62 57
3827280 1987
4
Genetic aspects of vulvar lichen sclerosus. 62 57
6591797 1984
5
Downregulated CD44 and hyaluronan expression in vulvar intraepithelial neoplasia and squamous cell carcinomas. 53 62
19900133 2010
6
A case of lichen sclerosus of the scalp associated with autoantibodies to extracellular matrix protein 1. 53 62
20026864 2009
7
CD44 and hyaluronate expression in follicular mucinosis. 53 62
16466510 2006
8
Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus. 53 62
15927815 2005
9
Restored epidermal CD44 expression in lichen sclerosus et atrophicus and clinical improvement with topical application of retinaldehyde. 53 62
15787834 2005
10
Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus. 53 62
15347336 2004
11
Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. 53 62
15173881 2004
12
Translational benefits from research on rare genodermatoses. 53 62
15068453 2004
13
The role of extracellular matrix protein 1 in human skin. 53 62
14723723 2004
14
Alterations in fibrillin as well as collagens I and III and elastin occur in vulval lichen sclerosus. 53 62
11683283 2001
15
Decrease in epidermal CD44 expression as a potential mechanism for abnormal hyaluronate accumulation in superficial dermis in lichen sclerosus et atrophicus. 53 62
11121141 2000
16
Expression of retinoic acid receptors in non-neoplastic epithelial disorders of the vulva and normal vulvar skin. 53 62
10782404 2000
17
The Evolving Landscape of Viral, Immune, and Molecular Biomarkers in Penile Cancer. 62
36424078 2023
18
Self-disgust in Patients with Dermatological Diseases. 62
35113320 2022
19
Therapeutic potential of adipose tissue-derivatives in modern dermatology. 62
35102608 2022
20
Platelet rich plasma for the management of urogynecological disorders: the current evidence. 62
36036461 2022
21
Laser Therapy for Recalcitrant Vulvar Lichen Sclerosus: A Review of the Literature. 62
35385852 2022
22
Living with vulval lichen sclerosus: a qualitative interview study. 62
35831927 2022
23
Understanding the impact of life with vulval lichen sclerosus. 62
36052748 2022
24
Lichen sclerosus in female patients is associated with an increased risk of metabolic syndrome and cardiovascular comorbidities: a retrospective cohort review. 62
35947535 2022
25
Association of vulvar lichen sclerosus with endometrial and ovarian cancer. 62
36034745 2022
26
Lichen Sclerosus throughout Childhood and Adolescence: Not Only a Premenarchal Disease. 62
36038010 2022
27
Differential proteomic expression in indolent vulvar lichen sclerosus, transforming vulvar lichen sclerosus and normal vulvar tissue. 62
35960231 2022
28
Reflectance Confocal Microscopy for Identification of Vulvar Lichen Sclerosus et Atrophicus and Vitiligo. 62
36395443 2022
29
Lichen Sclerosus and Sexual Dysfunction: A Systematic Review and Meta-Analysis. 62
36115787 2022
30
Pediatric and Adolescent Gynecology - a Current Overview. 62
36420782 2022
31
Acquired Elastotic Hemangioma-like Change of the Vulva Associated With Lichen Sclerosus. 62
34593702 2022
32
Vulvar dermatoses: a cross-sectional 5-year study. Experience in a specialized vulvar unit. 62
36089549 2022
33
High-frequency ultrasound features in vulvar lichen sclerosus and correlation with histopathology. 62
35969183 2022
34
Extragenital lichen sclerosus: A comprehensive review. 62
35950883 2022
35
The Importance of Immunological Disorders in the Pathogenesis of Lichen Sclerosus in Pediatric Patients: A Systematic Review. 62
36430687 2022
36
Why do some patients with vulval lichen sclerosus on long-term topical corticosteroid treatment experience ongoing poor quality of life? 62
36208206 2022
37
Linear morphea with overlying lichen sclerosus and calcinosis cutis associated with juvenile dermatomyositis. 62
36384242 2022
38
[Pediatric genital lichen sclerosus: a case series of 11 girls]. 62
36408571 2022
39
Characterization of patients with vulvar lichen sclerosus and association to vulvar carcinoma: a retrospective single center analysis. 62
36409332 2022
40
Does Clearance of Vulvar Lichen Sclerosus after a Corticosteroid Treatment Correspond to a Decrease in Disease-Related Burden? Results from a Cohort Study Using Pictorial Representation of Illness and Self-Measure and the Dermatology Life Quality Index. 62
36382657 2022
41
In vivo evaluation of vulvar lichen sclerosus with reflectance confocal microscopy and therapeutic monitoring in children. 62
36380494 2022
42
Reflectance confocal microscopy for non-invasive diagnosis of childhood-onset vulvar lichen sclerosus: A retrospective study. 62
36433788 2022
43
Thyroid disorders associated with lichen sclerosus: a case-control study in the All of Us Research Program. 62
35661997 2022
44
Clinical and histopathological spectrum of genital lichen sclerosus in 133 cases: Focus on the diagnosis of pre-sclerotic disease. 62
35389022 2022
45
Autologous Fat Grafting: Evaluation of Efficacy in Pain Relief. 62
36337431 2022
46
Quality of life impact and treatment response in vulval disease: Comparison of 3 common conditions using the Vulval Quality of Life Index. 62
35932464 2022
47
Tumor necrosis factor-α inhibitor-induced morphea and psoriasiform dermatitis in a pediatric patient with Crohn's disease. 62
36385392 2022
48
Genital Self-Image, Sexual Function, and Quality of Life Among Individuals with Vulvar and Non-Vulvar Inflammatory Dermatoses. 62
35900677 2022
49
Evaluation of risk in chronic cutaneous inflammatory conditions for malignant transformation. 62
36251409 2022
50
Pentoxifylline in dermatology. 62
36208009 2022

Variations for Lichen Sclerosus Et Atrophicus

Expression for Lichen Sclerosus Et Atrophicus

Search GEO for disease gene expression data for Lichen Sclerosus Et Atrophicus.

Pathways for Lichen Sclerosus Et Atrophicus

Pathways related to Lichen Sclerosus Et Atrophicus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.14 MYD88 GZMB CD8A CD44
2 11.34 GZMB CD8A CD44
3 11.21 TLR4 MYD88 ELN
4 11.04 TLR4 MYD88
5 10.92 TLR4 MYD88 GZMB
6 10.91 TLR4 TIA1
7 10.39 ELN ECM1 CD44

GO Terms for Lichen Sclerosus Et Atrophicus

Biological processes related to Lichen Sclerosus Et Atrophicus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of macrophage cytokine production GO:0060907 9.62 TLR4 MYD88
2 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.56 TLR4 MYD88
3 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.46 TLR4 MYD88
4 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.26 TLR4 MYD88
5 positive regulation of lymphocyte proliferation GO:0050671 8.8 TLR4 MYD88

Sources for Lichen Sclerosus Et Atrophicus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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