HED
MCID: HYP013
MIFTS: 58

Hypohidrotic Ectodermal Dysplasia (HED) malady

Summaries for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hypohidrotic ectodermal dysplasia (hed) is a genetic skin disease. common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. hed is caused by mutations in the eda, edar, or edaradd genes. it may be inherited in an x-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. the x-linked form is the most common form. the forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). last updated: 1/21/2014

MalaCards: Hypohidrotic Ectodermal Dysplasia, also known as christ-siemens-touraine syndrome, is related to anodontia and hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. An important gene associated with Hypohidrotic Ectodermal Dysplasia is EDARADD (EDAR-associated death domain), and among its related pathways are IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation and Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway. The compounds tab-1 and tab-2 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Disease Ontology:8 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Genetics Home Reference:21 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

Wikipedia:63 Hypohidrotic ectodermal dysplasia (also known as \"Anhidrotic ectodermal dysplasia,\" and... more...

Description from OMIM:46 224900,305100,129490,300291

GeneReviews summary for x-hed

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 46OMIM, 39NCIt
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Aliases & Descriptions:

hypohidrotic ectodermal dysplasia 8 19 42 21 10
christ-siemens-touraine syndrome 8 19 42 21 60
ectodermal dysplasia, hypohidrotic 42 20 22 44
hypohidrotic ectodermal dysplasia x-linked 42 20 22
anhidrotic ectodermal dysplasia 19 42 21
cst syndrome 42 21
hypohidrotic x-linked ectodermal dysplasia 8
x-linked hypohidrotic ectodermal dysplasia 42
anhidrotic ectodermal dysplasia x-linked 42
ectodermal dysplasia 3, anhidrotic 60
ectodermal dysplasia 1, anhydrotic 8
anhidrotic ectodermal dysplasia 3 8
ectodermal dysplasia anhidrotic 42
ectodermal dysplasia 1 42
xhed 42
hed 21


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Disease Ontology8 DOID:14793
NCIt39 C84562

Related Diseases for Hypohidrotic Ectodermal Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Hypohidrotic Ectodermal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1anodontia10.8
2hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
3immunodeficiency without anhidrotic ectodermal dysplasia10.7
4hypohidrotic ectodermal dysplasia with immune deficiency10.6
5ectodermal dysplasia 1, hypohidrotic, x-linked10.5
6hypothyroidism10.5
7hypohidrotic ectodermal dysplasia autosomal recessive10.5
8hypohidrotic ectodermal dysplasia, autosomal10.5
9ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
10ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.5
11ectodermal dysplasia 9, hair/nail type10.5
12osteopetrosis10.4
13hypohidrotic ectodermal dysplasia autosomal dominant10.4
14ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
15x-linked disease10.4
16bone fracture10.2
17cystic fibrosis10.2
18x-linked ichthyosis10.2
19anhidrosis10.2
20sudden infant death syndrome10.2
21atrophic rhinitis10.2
22nasopharyngitis10.2
23trachea squamous cell carcinoma10.2
24alopecia10.2
25cataract10.2
26keratoconus10.2
27lymphedema10.2
28melanoma10.2
29myiasis10.2
30neuroblastoma10.2
31panuveitis10.2
32rhabdomyosarcoma10.2
33rhinitis10.2
34squamous cell carcinoma10.2
35lelis syndrome10.2
36viljoen winship syndrome10.2
37ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.2
38ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.2
39ectodermal dysplasia 4, hair/nail type10.2
40mitral valve prolapse10.2
41miliary tuberculosis10.2
42bronchial disease10.2
43hypotrichosis10.2
44transient hypogammaglobulinemia10.2
45tuberculosis10.2
46ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.2
47ameloonychohypohidrotic syndrome10.2
48book syndrome10.2
49dermatopathia pigmentosa reticularis10.2
50dermoodontodysplasia10.2

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia:



Diseases related to hypohidrotic ectodermal dysplasia

Clinical Features for Hypohidrotic Ectodermal Dysplasia

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46OMIM
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Clinical features from OMIM:

224900,305100,129490,300291

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia

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Genetic Tests for Hypohidrotic Ectodermal Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Hypohidrotic Ectodermal Dysplasia:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia20 22 EDARADD
2 Hypohidrotic Ectodermal Dysplasia, X-Linked20 EDA
3 Hypohidrotic X-Linked Ectodermal Dysplasia22

Anatomical Context for Hypohidrotic Ectodermal Dysplasia

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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia:

32
Skin, Bone, Brain, Testes, Salivary gland, Trachea

Animal Models for Hypohidrotic Ectodermal Dysplasia or affiliated genes

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36MGI
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Publications for Hypohidrotic Ectodermal Dysplasia

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50PubMed
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Articles related to Hypohidrotic Ectodermal Dysplasia:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases. (24010518)
2013
2
The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010. (23416623)
2013
3
Implants in children with hypohidrotic ectodermal dysplasia: an alternative approach to esthetic management: case report and review of the literature. (24290558)
2013
4
The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation. (21916884)
2012
5
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. (22032522)
2012
6
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. (21457804)
2011
7
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. (21357618)
2011
8
Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels. (21704885)
2011
9
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. (22566850)
2011
10
Hypohidrotic ectodermal dysplasia associated with glucose-6-phosphate dehydrogenase deficiency. (22028581)
2011
11
A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (18702659)
2009
12
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. (19551394)
2009
13
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. (19029074)
2008
14
Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia. (18076698)
2008
15
Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia]. (17536268)
2007
16
A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. (17501952)
2007
17
Hypohidrotic ectodermal dysplasia (HED). (16441993)
2006
18
Ectoderm-targeted overexpression of the glucocorticoid receptor induces hypohidrotic ectodermal dysplasia. (15746257)
2005
19
A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. (15663448)
2005
20
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. (15262696)
2004
21
Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea. (12437816)
2002
22
Hypohidrotic ectodermal dysplasia with tibial aplasia. (12072795)
2002
23
Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report. (12413164)
2002
24
Hypohidrotic ectodermal dysplasia: dental features and carriers detection. (11787554)
2001
25
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). (11047757)
2000
26
Craniofacial changes following early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. (9617452)
1998
27
Overdenture prosthesis for oral rehabilitation of hypohidrotic ectodermal dysplasia: a case report. (9477886)
1997
28
Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasia. (9192408)
1997
29
Hypohidrotic ectodermal dysplasia with recurrent otitis and sebaceous gland hypertrophy of the face. (8573945)
1995
30
Complete dentures for a child with hypohidrotic ectodermal dysplasia: a clinical report. (8531147)
1995
31
Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case. (2338345)
1990
32
Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. (2395159)
1990
33
Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. (2301463)
1990
34
Hypohidrotic ectodermal dysplasia: a review. (2528538)
1989
35
Scaling skin in the neonate: a clue to the early diagnosis of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The Executive and Scientific Advisory Boards of the National Foundation for Ectodermal Dysplasias, Mascoutah, Illinois. (2926570)
1989
36
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. (3398005)
1988
37
Speech characteristics in patients with hypohidrotic ectodermal dysplasia. (3179428)
1988
38
Hypohidrotic ectodermal dysplasia: an unusual case report of twins. (3162530)
1988
39
Characterization of the face in hypohidrotic ectodermal dysplasia by cephalometric and anthropometric analysis. (3179427)
1988
40
Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome). (3782855)
1986
41
X-linked recessive hypohidrotic ectodermal dysplasia. Manifestations and management. (3953980)
1986
42
Dysphagia in hypohidrotic ectodermal dysplasia. A case report. (6463801)
1984
43
Ozena as presenting symptom of a rare and severe genetic disease: hypohidrotic ectodermal dysplasia. (6500829)
1984
44
Hypohidrotic ectodermal dysplasia and sudden infant death syndrome. (6107645)
1980
45
Aberrant scalp hair patterning in hypohidrotic ectodermal dysplasia. (830917)
1977
46
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. (890117)
1977
47
Hypohidrotic ectodermal dysplasia; an unusual presentation. (4520520)
1973
48
Concurrent hypohidrotic ectodermal dysplasia and X-linked ichthyosis. (4544634)
1973
49
Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations. (4502148)
1972
50
Hypohidrotic ectodermal dysplasia with multiple associated anomalies. (5173255)
1971

Genetic Variations for Hypohidrotic Ectodermal Dysplasia

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Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypohidrotic Ectodermal Dysplasia

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia.

Pathways for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology, 52R&D Systems, 55SinoBiological
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Pathways related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0IKBKG, TRAF6
2
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
10.0IKBKG, TRAF6
310.0IKBKG, TRAF6
49.7IKBKG, MAP3K7
59.7MAP3K7, IKBKG
69.6FURIN, IKBKG, TRAF6
79.5TAB2, MAP3K7
89.5TAB2, IKBKG, TRAF6
9
Hide members
9.4TRAF6, MAP3K7, IKBKG
10
Hide members
9.4TRAF6, MAP3K7, IKBKG
11
Cytokine production by Th17 cells in CF (Mouse model)
9.4TRAF6, MAP3K7, IKBKG
12
Hide members
9.4TRAF6, MAP3K7, IKBKG
139.4IKBKG, MAP3K7, TRAF6
149.3TAB2, IKBKG, MAP3K7
159.3TAB2, MAP3K7, TRAF6
169.3TAB2, MAP3K7, TRAF6
179.2PAX9, TAB2, MAP3K7
18
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
19
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
209.0TRAF6, MAP3K7, IKBKG, TAB2
21
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
22
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
23
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
249.0TRAF6, MAP3K7, IKBKG, TAB2
25
Mucin expression in CF via IL-6, IL-17 signaling pathways
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
26
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
27
Immune response Bacterial infections in normal airways
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9.0TRAF6, MAP3K7, IKBKG, TAB2
28
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
299.0TRAF6, MAP3K7, IKBKG, TAB2
30
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
31
Hide members
9.0TRAF6, MAP3K7, IKBKG, TAB2
32
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
33
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
349.0TAB2, IKBKG, MAP3K7, TRAF6
35
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
36
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
379.0TAB2, IKBKG, MAP3K7, TRAF6
38
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
39
Hide members
9.0TAB2, IKBKG, MAP3K7, TRAF6
40
Hide members
8.9TNFRSF19, EDAR, EDA2R, EDA
41
Hide members
8.7TRAF6, MAP3K7, IKBKG, TAB2, FURIN
42
Hide members
8.7TNFRSF19, EDAR, EDA2R, EDA, IKBKG
43
Hide members
8.4TNFRSF19, EDAR, TRAF6, MAP3K7, IKBKG

Compounds for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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Compounds related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tab-1449.3TAB2, MAP3K7, TRAF6
2tab-2449.0TAB2, MAP3K7, TRAF6

GO Terms for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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16Gene Ontology
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Cellular components related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1IkappaB kinase complexGO:0083859.4IKBKG, MAP3K7
2endosome membraneGO:0100089.3TAB2, MAP3K7, TRAF6

Biological processes related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1trachea gland developmentGO:06115310.3EDA, EDARADD
2salivary gland cavitationGO:06066210.2EDAR, EDA
3positive regulation of NF-kappaB import into nucleusGO:04234610.0EDAR, EDA
4pigmentationGO:0434739.9EDA, EDAR
5positive regulation of T cell cytokine productionGO:0027269.9MAP3K7, TRAF6
6positive regulation of interleukin-2 productionGO:0327439.8TRAF6, MAP3K7
7positive regulation of T cell activationGO:0508709.8MAP3K7, TRAF6
8activation of NF-kappaB-inducing kinase activityGO:0072509.7IKBKG, MAP3K7, TRAF6
9positive regulation of JUN kinase activityGO:0435079.7MAP3K7, TRAF6
10odontogenesis of dentin-containing toothGO:0424759.6SOSTDC1, EDAR, EDARADD, EDA, TRAF6
11cell differentiationGO:0301549.6EDA, EDARADD, EDA2R, EDAR
12hair follicle developmentGO:0019429.5TNFRSF19, EDAR, EDARADD
13nucleotide-binding oligomerization domain containing signaling pathwayGO:0704239.4TRAF6, MAP3K7, IKBKG, TAB2
14nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.4TRAF6, MAP3K7, IKBKG, TAB2
15I-kappaB kinase/NF-kappaB cascadeGO:0072499.4TRAF6, MAP3K7, IKBKG, TAB2
16stress-activated MAPK cascadeGO:0514039.4TRAF6, MAP3K7, IKBKG, TAB2
17toll-like receptor 10 signaling pathwayGO:0341669.4TRAF6, MAP3K7, IKBKG, TAB2
18toll-like receptor 5 signaling pathwayGO:0341469.4TRAF6, MAP3K7, IKBKG, TAB2
19toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.4TRAF6, MAP3K7, IKBKG, TAB2
20toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.4TRAF6, MAP3K7, IKBKG, TAB2
21toll-like receptor 9 signaling pathwayGO:0341629.4TRAF6, MAP3K7, IKBKG, TAB2
22toll-like receptor 2 signaling pathwayGO:0341349.4TAB2, IKBKG, MAP3K7, TRAF6
23TRIF-dependent toll-like receptor signaling pathwayGO:0356669.4TRAF6, MAP3K7, IKBKG, TAB2
24MyD88-independent toll-like receptor signaling pathwayGO:0027569.4TRAF6, MAP3K7, IKBKG, TAB2
25toll-like receptor 3 signaling pathwayGO:0341389.4TRAF6, MAP3K7, IKBKG, TAB2
26MyD88-dependent toll-like receptor signaling pathwayGO:0027559.3TRAF6, MAP3K7, IKBKG, TAB2
27T cell receptor signaling pathwayGO:0508529.3TRAF6, MAP3K7, IKBKG, TAB2
28activation of MAPK activityGO:0001879.3TAB2, IKBKG, MAP3K7, TRAF6
29toll-like receptor 4 signaling pathwayGO:0341429.3TRAF6, MAP3K7, IKBKG, TAB2
30toll-like receptor signaling pathwayGO:0022249.3TAB2, IKBKG, MAP3K7, TRAF6
31Fc-epsilon receptor signaling pathwayGO:0380959.3TAB2, IKBKG, MAP3K7, TRAF6
32tumor necrosis factor-mediated signaling pathwayGO:0332099.1EDA2R, TNFRSF19
33positive regulation of NF-kappaB transcription factor activityGO:0510928.9TAB2, IKBKG, MAP3K7, TRAF6, EDA, EDA2R
34JNK cascadeGO:0072548.6TNFRSF19, TRAF6, MAP3K7, IKBKG, TAB2
35apoptotic processGO:0069158.5IKBKG, MAP3K7, PKP1, EDAR, TNFRSF19
36positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431238.3TNFRSF19, EDA, TRAF6, MAP3K7, IKBKG, TAB2

Molecular functions related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-activated receptor activityGO:0050319.4EDA2R, TNFRSF19

Products for genes affiliated with Hypohidrotic Ectodermal Dysplasia

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3CDC
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26ICD10 via Orphanet
27ICD9CM
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