DH
MCID: DRM007
MIFTS: 54

Dermatitis Herpetiformis (DH)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatitis Herpetiformis

MalaCards integrated aliases for Dermatitis Herpetiformis:

Name: Dermatitis Herpetiformis 12 73 20 36 54 44 15 17 70 32
Duhring's Disease 12 73 20
Dermatosis Herpetiformis 12
Brocq-Duhring Disease 20
Duhring Brocq Disease 20
Duhring-Brocq Disease 20
Dh 20

Classifications:



Summaries for Dermatitis Herpetiformis

GARD : 20 Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms may include fluid-filled sores; red lesions that resemble hives; and itchiness, redness and burning. The exact cause of this disease is not known, but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.

MalaCards based summary : Dermatitis Herpetiformis, also known as duhring's disease, is related to pemphigoid and bullous pemphigoid. An important gene associated with Dermatitis Herpetiformis is TGM3 (Transglutaminase 3), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Levoleucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and small intestine, and related phenotypes are malabsorption and autoimmunity

KEGG : 36 Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA DR3, HLA DQw2, found in 80-90% of cases. Owing to the granular immunoglobulin (Ig) A deposition at the tips of the papillary dermis and to the subepidermal blister formation associated with neutrophilic accumulations underlying the basement membrane, DH is considered to be an autoimmune blistering disease.

Wikipedia : 73 Dermatitis herpetiformis (DH) is a chronic autoimmune blistering skin condition, characterised by... more...

Related Diseases for Dermatitis Herpetiformis

Diseases in the Dermatitis Herpetiformis family:

Dermatitis Herpetiformis, Familial Juvenile Dermatitis Herpetiformis

Diseases related to Dermatitis Herpetiformis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 624)
# Related Disease Score Top Affiliating Genes
1 pemphigoid 31.5 TNF IL5 IL4 HLA-DQB1 CCL11
2 bullous pemphigoid 31.1 TNF PLAU IL5 IL4 HLA-DQB1 CXCL8
3 exanthem 30.9 TNF IL10 CXCL8
4 immunoglobulin alpha deficiency 30.7 TGM2 HLA-DQB1 CD79A
5 pustulosis of palm and sole 30.7 TNF IL17A CXCL8
6 pemphigus 30.7 TNF IL4 IL10 HLA-DQB1 CD79A
7 erythema multiforme 30.4 TNF IL5 IL4 CXCL8
8 jejunoileitis 30.4 TNF TGM2 MYO9B
9 lupus erythematosus 30.4 TNF IL10 HLA-DQB1 HLA-DQA1
10 cicatricial pemphigoid 30.3 IL4 HLA-DQB1 CD79A
11 atrophic gastritis 30.3 TNF IL10 CXCL8
12 membranous nephropathy 30.3 TNF HLA-DQA1 CD79A
13 severe cutaneous adverse reaction 30.2 TNF TGM1 HLA-DQB1
14 purpura 30.2 TNF IL4 IL10 CD79A
15 cholangitis 30.1 TNF IL10 CXCL8
16 gastritis 30.1 TNF IL17A IL10 CXCL8
17 bullous skin disease 30.0 TGM3 TGM2 IL5
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.9 IL17A IL10 FOXP3
19 rosacea 29.9 TNF IL17A CXCL8
20 erythema nodosum 29.9 TNF IL10 CXCL8
21 dermatitis 29.9 TNF IL5 IL4 IL31 IL17A IL10
22 sclerosing cholangitis 29.8 TNF IL10 HLA-DQB1 CXCL8
23 microscopic colitis 29.8 TNF TGM2 IL4 HLA-DQB1 CD79A
24 eosinophilic gastroenteritis 29.8 IL5 IL4 CCL11
25 rheumatic fever 29.7 TNF IL10 HLA-DQB1 HLA-DQA1
26 scabies 29.7 IL31 IL10 CXCL8 CCL11
27 helicobacter pylori infection 29.7 TNF IL10 CXCL8
28 acute cystitis 29.6 TNF IL10 CXCL8
29 poliomyelitis 29.6 TNF IL4 IL10
30 guillain-barre syndrome 29.6 TNF IL17A HLA-DQB1 HLA-DQA1 CD79A
31 autoimmune pancreatitis 29.6 TNF IL10 FOXP3
32 bone disease 29.5 TNF IL4 IL17A CXCL8
33 ige responsiveness, atopic 29.5 IL5 IL4 IL10
34 neuromyelitis optica 29.5 IL5 IL4 IL17A
35 spondylitis 29.5 TNF IL17A IL10
36 myositis 29.5 TNF TGM2 IL17A HLA-DQA1 CXCL8
37 autoimmune gastritis 29.5 TNF IL4 IL10 HLA-DQB1
38 relapsing polychondritis 29.4 IL17A IL10 CXCL8
39 pulmonary tuberculosis 29.4 TNF IL4 IL10 HLA-DQB1
40 myasthenia gravis 29.4 TNF IL4 IL10 HLA-DQB1
41 tonsillitis 29.4 TNF IL4 IL10 CXCL8 CD79A
42 ulcerative colitis 29.4 TNF MYO9B IL4 IL17A IL10 CXCL8
43 thyroiditis 29.4 TNF IL4 IL17A IL10 FOXP3
44 toxic shock syndrome 29.3 TNF IL4 IL10 CXCL8
45 autoimmune polyendocrine syndrome 29.3 IL17A IL10 FOXP3
46 transverse myelitis 29.3 TNF IL17A IL10 CXCL8
47 systemic scleroderma 29.2 TNF IL4 IL17A IL10
48 hashimoto thyroiditis 29.2 IL4 IL17A IL10 FOXP3
49 psoriatic arthritis 29.2 TNF IL4 IL17A IL10
50 urticaria 29.2 TNF IL5 IL4 IL31 IL10 CXCL8

Graphical network of the top 20 diseases related to Dermatitis Herpetiformis:



Diseases related to Dermatitis Herpetiformis

Symptoms & Phenotypes for Dermatitis Herpetiformis

Human phenotypes related to Dermatitis Herpetiformis:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 malabsorption 31 hallmark (90%) HP:0002024
2 autoimmunity 31 hallmark (90%) HP:0002960
3 microcytic anemia 31 hallmark (90%) HP:0001935
4 recurrent fractures 31 hallmark (90%) HP:0002757
5 erythema 31 hallmark (90%) HP:0010783
6 macule 31 hallmark (90%) HP:0012733
7 urticaria 31 hallmark (90%) HP:0001025
8 pruritus 31 hallmark (90%) HP:0000989
9 skin vesicle 31 hallmark (90%) HP:0200037
10 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
11 eczema 31 frequent (33%) HP:0000964
12 bone pain 31 occasional (7.5%) HP:0002653
13 lichenification 31 occasional (7.5%) HP:0100725
14 edema 31 occasional (7.5%) HP:0000969

MGI Mouse Phenotypes related to Dermatitis Herpetiformis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 CCL11 CD79A FOXP3 HLA-DQA1 HLA-DQB1 IL10
2 immune system MP:0005387 10.22 CCL11 CD79A FOXP3 HLA-DQA1 HLA-DQB1 IL10
3 homeostasis/metabolism MP:0005376 10.21 CD79A FOXP3 HLA-DQB1 IL10 IL17A IL4
4 endocrine/exocrine gland MP:0005379 10.09 FOXP3 HLA-DQA1 HLA-DQB1 IL10 IL17A IL4
5 digestive/alimentary MP:0005381 10.06 FOXP3 HLA-DQB1 IL10 IL17A IL4 IL5
6 integument MP:0010771 9.91 FOXP3 IL10 IL17A IL4 MMP12 PLAU
7 liver/biliary system MP:0005370 9.76 CD79A FOXP3 HLA-DQB1 IL10 IL4 IL5
8 no phenotypic analysis MP:0003012 9.5 CD79A FOXP3 IL10 IL17A IL4 TGM2
9 respiratory system MP:0005388 9.36 CCL11 FOXP3 HLA-DQB1 IL10 IL17A IL4

Drugs & Therapeutics for Dermatitis Herpetiformis

Drugs for Dermatitis Herpetiformis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Folic Acid Antagonists Phase 4
5 Vitamin B9 Phase 4
6 Antiparasitic Agents Phase 4
7 Vitamin B Complex Phase 4
8 Antimalarials Phase 4
9 Antiprotozoal Agents Phase 4
10 Anti-Infective Agents Phase 4
11 Folate Phase 4
12 Anti-Bacterial Agents Phase 4
13 Immunoglobulins Phase 1, Phase 2
14 Antibodies Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dapsone Gel, 5% for Topical Treatment of Dermatitis Herpetiformis Terminated NCT01115244 Phase 4 Dapsone gel, 5%
2 Effect of a Cocktail of Two Common Enzyme Supplements on Celiac Disease Patients With Persistent Seropositivity Completed NCT00962182 Phase 1, Phase 2 STAN1;Placebo enzyme;STAN1+gluten
3 Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses Unknown status NCT01952275

Search NIH Clinical Center for Dermatitis Herpetiformis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Dapsone
SULFAPYRIDINE PWDR

Cochrane evidence based reviews: dermatitis herpetiformis

Genetic Tests for Dermatitis Herpetiformis

Anatomical Context for Dermatitis Herpetiformis

MalaCards organs/tissues related to Dermatitis Herpetiformis:

40
Skin, Bone, Small Intestine, Neutrophil, T Cells, Pituitary, Liver

Publications for Dermatitis Herpetiformis

Articles related to Dermatitis Herpetiformis:

(show top 50) (show all 2181)
# Title Authors PMID Year
1
C3d immunohistochemistry on formalin-fixed tissue is a valuable tool in the diagnosis of bullous pemphigoid of the skin. 54 61
19863700 2010
2
Clinical, histological and immunpathological findings in 32 patients with dermatitis herpetiformis Duhring. 54 61
19878401 2010
3
Childhood dermatitis herpetiformis: a case report and review of the literature. 54 61
18246879 2007
4
Co-localization of IgA and TG3 on healthy skin of coeliac patients. 61 54
17373979 2007
5
Mutagenesis of the catalytic triad of tissue transglutaminase abrogates coeliac disease serum IgA autoantibody binding. 61 54
16935926 2007
6
Erythema elevatum diutinum arising in the setting of dermatitis herpetiformis. 61 54
16983903 2006
7
Dermatitis herpetiformis and partial IgA deficiency. 61 54
16631941 2006
8
New insights into the autoantibody-mediated mechanisms of autoimmune bullous diseases and urticaria. 61 54
16466621 2006
9
Immunoglobulin, complement and epidermal transglutaminase deposition in the cutaneous vessels in dermatitis herpetiformis. 54 61
15649195 2005
10
In vivo targeting of intestinal and extraintestinal transglutaminase 2 by coeliac autoantibodies. 54 61
15082580 2004
11
[Dermatitis herpetiformis]. 61 54
14714018 2003
12
Missing endomysial and reticulin binding of coeliac antibodies in transglutaminase 2 knockout tissues. 54 61
12524400 2003
13
A subepidermal blistering dermatosis associated with coexistent IgG and IgA anti-dermal basement membrane zone antibodies; demonstration of IgG antibodies reactive against a 200-kDa dermal antigen. 61 54
12459541 2002
14
Dermatitis herpetiformis: should direct immunofluorescence be the only diagnostic criterion? 54 61
12220281 2002
15
Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. 61 54
11966763 2002
16
Epidermal transglutaminase (TGase 3) is the autoantigen of dermatitis herpetiformis. 54 61
11901200 2002
17
Parallel expression of macrophage metalloelastase (MMP-12) in duodenal and skin lesions of patients with dermatitis herpetiformis. 61 54
11247893 2001
18
Expression of eotaxin, interleukin 13 and tumour necrosis factor-alpha in dermatitis herpetiformis. 61 54
11069505 2000
19
[Antibodies against tissue transglutaminase as a serological marker in dermatitis herpetiformis During]. 61 54
10907151 2000
20
Enhanced expression of human metalloelastase (MMP-12) in cutaneous granulomas and macrophage migration. 61 54
10201535 1999
21
Urokinase plasminogen activator is expressed by basal keratinocytes before interstitial collagenase, stromelysin-1, and laminin-5 in experimentally induced dermatitis herpetiformis lesions. 61 54
8980278 1997
22
The IgA subclass distributions of endomysium and gliadin antibodies in human sera are different. 54 61
8937757 1996
23
IgA and IgG binding components of wheat, rye, barley and oats recognized by immunoblotting analysis with sera from adult atopic dermatitis patients. 61 54
8753845 1996
24
IgA deposition in the skin of patients with alcoholic liver disease. 54 61
8720981 1996
25
Is small bowel biopsy necessary in adults with suspected celiac disease and IgA anti-endomysium antibodies? 100% positive predictive value for celiac disease in adults. 61 54
8565771 1996
26
Enhanced expression of interstitial collagenase, stromelysin-1, and urokinase plasminogen activator in lesions of dermatitis herpetiformis. 54 61
7636299 1995
27
Diagnosis of dermatitis herpetiformis by an avidin-biotin-peroxidase method. 54 61
7741544 1995
28
T lymphocytes bearing the gamma/delta T-cell receptor in cutaneous lesions of dermatitis herpetiformis. 61 54
7868753 1994
29
Dermatitis herpetiformis--an autoimmune disease due to cross-reaction between dietary glutenin and dermal elastin? 61 54
8256113 1993
30
Identification of a basement membrane zone antigen reactive with circulating IgA antibody in ocular cicatricial pemphigoid. 61 54
8409534 1993
31
Confocal laser scanning microscopic and immunoelectron microscopic studies of the anatomical distribution of fibrillar IgA deposits in dermatitis herpetiformis. 61 54
8466215 1993
32
[Iga and IgG antireticuline in celiac disease. Their application as diagnostic markers of the disease]. 61 54
1482014 1992
33
Molecular analysis of HLA DP and DQ genes associated with dermatitis herpetiformis. 54 61
1919044 1991
34
Fc receptor function and circulating immune complexes in gluten sensitive enteropathy--possible significance of serum IgA. 61 54
1885069 1991
35
Extracellular binding sites of IgA anti-jejunal antibodies on normal small bowel detected by indirect immunoelectronmicroscopy. 54 61
1899445 1991
36
Similarities in intestinal humoral immunity in dermatitis herpetiformis without enteropathy and in coeliac disease. 54 61
1972433 1990
37
Cutaneous IgA deposits in bullous diseases function as ligands to mediate adherence of activated neutrophils. 61 54
2182721 1990
38
T-cell receptor beta-subunit gene polymorphism and autoimmune disease. 61 54
1969400 1990
39
IgA immunoreactive deposits collocal with fibrillin immunoreactive fibers in dermatitis herpetiformis skin. 61 54
1972829 1990
40
Dapsone-induced hepatic complications: it's time to think beyond methemoglobinemia. 61
31631707 2021
41
Recalcitrant dermatitis herpetiformis treated successfully with sulfasalazine. 61
33226639 2021
42
Gluten and skin disease beyond dermatitis herpetiformis: a review. 61
32810304 2021
43
Subepithelial Autoimmune Bullous Dermatoses Disease Activity Assessment and Therapy. 61
33684494 2021
44
Subepidermal Autoimmune Blistering Dermatoses: Clinical Features and Diagnosis. 61
33684496 2021
45
Granular Deposits of IgA in the Skin of Coeliac Patients Without Dermatitis Herpetiformis: A Prospective Multicentric Analysis. 61
33426564 2021
46
Coeliac disease presenting atypically: A much wider spectrum. 61
33573512 2021
47
A Case of Bullous Rash Apparently Triggered by Meningococcal and Rotavirus Vaccines in an Infant: Focus on Infantile Bullous Pemphigoid. 61
33672215 2021
48
Research Supporting a Pilot Study of Metronomic Dapsone during Glioblastoma Chemoirradiation. 61
33669324 2021
49
Development of Dermatitis Herpetiformis in Chronic Plaque Psoriasis. 61
33790758 2021
50
A novel quantitative ELISA as accurate and reproducible tool to detect epidermal transglutaminase antibodies in patients with Dermatitis Herpetiformis. 61
33463795 2021

Variations for Dermatitis Herpetiformis

Expression for Dermatitis Herpetiformis

Search GEO for disease gene expression data for Dermatitis Herpetiformis.

Pathways for Dermatitis Herpetiformis

Pathways related to Dermatitis Herpetiformis according to GeneCards Suite gene sharing:

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TNF PLAU MYO9B IL5 IL4 IL31
2
Show member pathways
13.36 TNF IL5 IL4 IL17A IL10 CXCL8
3
Show member pathways
13.29 TNF MYO9B IL5 IL4 IL17A IL10
4
Show member pathways
13.27 TNF IL5 IL4 IL31 IL17A IL10
5
Show member pathways
12.65 TNF IL4 IL10 HLA-DQB1 HLA-DQA1 CD79A
6
Show member pathways
12.58 TNF IL5 IL4 IL17A IL10
7 12.57 TNF IL4 IL17A IL10 FOXP3 CD79A
8
Show member pathways
12.4 TNF IL5 IL4 IL17A IL10 HLA-DQB1
9
Show member pathways
12.32 TNF IL5 IL4 IL17A CXCL8 CCL11
10
Show member pathways
12.29 TNF IL10 CXCL8 CCL11
11
Show member pathways
12.28 TNF IL4 IL10 HLA-DQB1 HLA-DQA1
12
Show member pathways
12.27 TNF IL5 IL4 IL17A IL10 CXCL8
13 12.21 TNF IL10 HLA-DQB1 HLA-DQA1
14
Show member pathways
12.16 TNF IL4 CXCL8 CCL11
15
Show member pathways
12.06 TNF IL5 IL4 IL17A IL10 HLA-DQB1
16 12.01 TNF MMP12 IL4 CXCL8
17 12.01 TNF IL5 IL4 IL10 CD79A
18 11.92 TNF IL5 IL4 HLA-DQB1 HLA-DQA1
19 11.86 TNF IL17A HLA-DQB1 HLA-DQA1 CXCL8
20 11.86 TNF IL4 IL17A IL10 CXCL8 CCL11
21 11.84 IL10 HLA-DQB1 HLA-DQA1
22
Show member pathways
11.82 IL17A FOXP3 CXCL8
23 11.76 IL5 IL4 CXCL8
24 11.73 TNF IL5 IL4 IL17A IL10
25
Show member pathways
11.72 TNF IL17A IL10
26 11.72 TNF IL10 CXCL8
27 11.69 IL5 IL4 IL10 CCL11
28
Show member pathways
11.68 TNF IL5 IL4 FOXP3 CXCL8
29 11.62 PLAU MMP12 CXCL8
30 11.59 TNF IL5 IL4 IL10 FOXP3
31 11.55 TNF IL4 IL10 CXCL8
32 11.52 TNF IL10 CXCL8
33 11.43 TNF PLAU IL5 IL4 CXCL8 CCL11
34
Show member pathways
11.37 TNF IL10 FOXP3
35 11.34 TNF IL5 IL4 IL17A
36 11.24 TNF IL5 IL4 IL10
37 11.21 IL5 IL4 IL10
38 11.1 IL5 IL4 IL31 IL10 FOXP3 CCL11
39 11.01 TNF IL5 IL4 IL17A IL10 CXCL8
40 10.75 IL5 IL4

GO Terms for Dermatitis Herpetiformis

Cellular components related to Dermatitis Herpetiformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 TNF PLAU MMP12 IL5 IL4 IL31
2 extracellular space GO:0005615 9.32 TNF PLAU MMP12 IL5 IL4 IL31

Biological processes related to Dermatitis Herpetiformis according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 TNF MMP12 IL4 FOXP3 CXCL8
2 inflammatory response GO:0006954 9.85 TNF IL5 IL17A CXCL8 CCL11
3 cellular response to interleukin-1 GO:0071347 9.78 IL17A CXCL8 CCL11
4 B cell differentiation GO:0030183 9.74 IL4 IL10 CD79A
5 negative regulation of tumor necrosis factor production GO:0032720 9.73 IL4 IL10 FOXP3
6 negative regulation of interleukin-6 production GO:0032715 9.72 TNF IL10 FOXP3
7 immune response GO:0006955 9.61 TNF IL5 IL4 IL17A IL10 HLA-DQB1
8 positive regulation of podosome assembly GO:0071803 9.6 TNF IL5
9 positive regulation of MHC class II biosynthetic process GO:0045348 9.59 IL4 IL10
10 response to molecule of bacterial origin GO:0002237 9.58 IL10 CXCL8
11 negative regulation of T-helper 17 cell differentiation GO:2000320 9.54 IL4 FOXP3
12 regulation of immunoglobulin production GO:0002637 9.52 TNF FOXP3
13 endothelial cell apoptotic process GO:0072577 9.51 TNF IL10
14 positive regulation of mononuclear cell migration GO:0071677 9.49 TNF IL4
15 negative regulation of cytokine production involved in immune response GO:0002719 9.48 TNF IL10
16 peptide cross-linking GO:0018149 9.46 TGM6 TGM3 TGM2 TGM1
17 type 2 immune response GO:0042092 9.43 IL4 IL10
18 positive regulation of JAK-STAT cascade GO:0046427 9.43 TNF IL5 IL10
19 regulation of isotype switching GO:0045191 9.4 IL4 IL10
20 cell envelope organization GO:0043163 9.37 TGM3 TGM1
21 negative regulation of chronic inflammatory response GO:0002677 9.32 IL4 FOXP3
22 cytokine-mediated signaling pathway GO:0019221 9.23 TNF IL5 IL4 IL31 IL17A IL10

Molecular functions related to Dermatitis Herpetiformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.46 TGM6 TGM3 TGM2 TGM1
2 MHC class II receptor activity GO:0032395 9.26 HLA-DQB1 HLA-DQA1
3 protein-glutamine gamma-glutamyltransferase activity GO:0003810 9.26 TGM6 TGM3 TGM2 TGM1
4 cytokine activity GO:0005125 9.23 TNF IL5 IL4 IL31 IL17A IL10

Sources for Dermatitis Herpetiformis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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