HED
MCID: HYP013
MIFTS: 57

Hypohidrotic Ectodermal Dysplasia (HED) malady

Summaries for Hypohidrotic Ectodermal Dysplasia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 ectodermal dysplasia and hypohidrotic ectodermal dysplasia, autosomal. 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 whole blood, brain and salivary gland, 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:64 Hypohidrotic ectodermal dysplasia (also known as \"Anhidrotic ectodermal dysplasia,\" and... more...

Description from OMIM:47 224900,305100,129490,300291

GeneReviews summary for x-hed

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 20GeneTests, 22GTR, 45Novoseek, 35MeSH, 57SNOMED-CT, 47OMIM, 40NCIt
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Aliases & Descriptions:

hypohidrotic ectodermal dysplasia 8 19 43 21 10
christ-siemens-touraine syndrome 8 19 43 21 61
ectodermal dysplasia, hypohidrotic 43 20 22 45
hypohidrotic ectodermal dysplasia x-linked 43 20 22
anhidrotic ectodermal dysplasia 19 43 21
cst syndrome 43 21
hypohidrotic x-linked ectodermal dysplasia 8
x-linked hypohidrotic ectodermal dysplasia 43
anhidrotic ectodermal dysplasia x-linked 43
ectodermal dysplasia 3, anhidrotic 61
ectodermal dysplasia 1, anhydrotic 8
anhidrotic ectodermal dysplasia 3 8
ectodermal dysplasia anhidrotic 43
ectodermal dysplasia 1 43
xhed 43
hed 21


External Ids:

Disease Ontology8 DOID:14793
NCIt40 C84562

Related Diseases for Hypohidrotic Ectodermal Dysplasia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hypohidrotic Ectodermal Dysplasia family:

hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia32.2IKBKG, EDAR, EDA2R, EDA, PKP1, TRAF6
2hypohidrotic ectodermal dysplasia, autosomal11.0
3hypohidrotic ectodermal dysplasia autosomal recessive10.9
4anodontia10.8
5hypohidrotic ectodermal dysplasia autosomal dominant10.7
6immunodeficiency without anhidrotic ectodermal dysplasia10.7
7hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
8hypohidrotic ectodermal dysplasia with immune deficiency10.6
9ectodermal dysplasia 1, hypohidrotic, x-linked10.6
10n syndrome10.6
11facial ectodermal dysplasia10.6
12ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.5
13ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.5
14ectodermal dysplasia 9, hair/nail type10.5
15keratoderma10.4
16osteopetrosis10.4
17ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.4
18mitral valve prolapse10.3
19miliary tuberculosis10.3
20y-linked disease10.3
21asthma10.3
22transient hypogammaglobulinemia10.3
23tuberculosis10.3
24ectodermal dysplasia blindness10.3
25specific antibody deficiency10.3
26short stature10.3
27ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.3
28blindness10.3
29isolated breast aplasia10.3
30bone fracture10.3
31cystic fibrosis10.3
32anhidrosis10.3
33sudden infant death syndrome10.3
34atrophic rhinitis10.3
35trachea squamous cell carcinoma10.3
36alopecia10.3
37squamous cell carcinoma10.3
38trachea carcinoma10.3
39corpus callosum agenesis10.3
40taurodontism10.3
41rapp-hodgkin syndrome10.3
42lelis syndrome10.3
43viljoen winship syndrome10.3
44dysphagia10.3
45ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.3
46ectodermal dysplasia 11a, hypohidrotic/hair/tooth type10.3
47ectodermal dysplasia 4, hair/nail type10.3
48autosomal recessive amelia10.3
49pheochromocytoma10.0
50multiple endocrine neoplasia10.0

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



Diseases related to hypohidrotic ectodermal dysplasia

Clinical Features for Hypohidrotic Ectodermal Dysplasia

Sources:
47OMIM
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Clinical features from OMIM:

224900,305100,129490,300291

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hypohidrotic Ectodermal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Hypohidrotic Ectodermal Dysplasia

Search NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia

Search CenterWatch for Hypohidrotic Ectodermal Dysplasia

Genetic Tests for Hypohidrotic Ectodermal Dysplasia

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia:

33
Whole blood, Brain, Salivary gland, Skin, T cells, Fetal brain, Trachea

Animal Models for Hypohidrotic Ectodermal Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hypohidrotic Ectodermal Dysplasia

Sources:
51PubMed
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Articles related to Hypohidrotic Ectodermal Dysplasia:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
Hereditary hypohidrotic ectodermal dysplasia: report of a rare case. (24179947)
2013
2
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. (23210707)
2013
3
Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. (23522427)
2013
4
A retrospective 3-to-5 year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia. (23145872)
2012
5
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia. (21332691)
2011
6
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. (20979233)
2011
7
A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia. (21876339)
2011
8
Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. (20078794)
2010
9
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. (20222921)
2010
10
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. (20682465)
2010
11
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. (20108402)
2010
12
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems. (20486090)
2010
13
Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector]. (20077893)
2009
14
Consequences of X-linked hypohidrotic ectodermal dysplasia for the human jaw bone. (19828977)
2009
15
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. (19533796)
2009
16
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
17
A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. (18427821)
2008
18
X-linked hypohidrotic ectodermal dysplasia: a ten-year case report and clinical considerations. (19886367)
2008
19
Hypohidrotic ectodermal dysplasia: a case report. (18551221)
2008
20
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
21
Hypohidrotic ectodermal dysplasia with true anodontia of the primary dentition. (18197325)
2007
22
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. (17568423)
2007
23
Full mouth rehabilitation of a hypohidrotic ectodermal dysplasia patient with dental implants: a clinical report. (17581183)
2007
24
Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia]. (17686277)
2007
25
Hypohidrotic (Anhidrotic) Ectodermal dysplasia - A rare cause of childhood Atrophic Rhinitis". (23120289)
2006
26
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. (16435307)
2006
27
Hypohidrotic ectodermal dysplasia with bilateral impacted teeth at the coronoid process: a case rehabilitated with mini dental implants. (15829868)
2005
28
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. (15373768)
2004
29
Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers. (14746168)
2003
30
A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia. (12920369)
2003
31
Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography. (12862275)
2003
32
Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. (11688814)
2001
33
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. (11378824)
2001
34
Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia. (11495192)
2001
35
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. (11416205)
2001
36
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. (10677098)
2000
37
The "bar code phenomenon": a microscopic artifact seen in patients with hypohidrotic ectodermal dysplasia. (10990590)
2000
38
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg). (10469321)
1999
39
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. (9545409)
1998
40
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. (9375732)
1997
41
Dental implants in the oral rehabilitation of a teenager with hypohidrotic ectodermal dysplasia: report of a case. (9109277)
1997
42
Hypohidrotic Ectodermal Dysplasia (20301291)
1993
43
High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. (1357963)
1992
44
Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. (2912882)
1989
45
Adaptive behavior of school-age children with hypohidrotic ectodermal dysplasia. (3179431)
1988
46
Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study. (3205855)
1988
47
Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study. (3442296)
1987
48
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. (2883107)
1987
49
X-linked hypohidrotic ectodermal dysplasia--an unusual prosthetic problem. (278831)
1978
50
Brain damage as a consequence of unrecognised hypohidrotic ectodermal dysplasia. (5146403)
1971

Genetic Variations for Hypohidrotic Ectodermal Dysplasia

Expression for genes affiliated with Hypohidrotic Ectodermal Dysplasia

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology, 53R&D Systems, 56SinoBiological
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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
Hide members
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

Sources:
45Novoseek
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Compounds related to Hypohidrotic Ectodermal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tab-1459.3TAB2, MAP3K7, TRAF6
2tab-2459.0TAB2, MAP3K7, TRAF6

GO Terms for genes affiliated with Hypohidrotic Ectodermal Dysplasia

Sources:
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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Sources for Hypohidrotic Ectodermal Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet