Aliases & Classifications for Anhidrosis

MalaCards integrated aliases for Anhidrosis:

Name: Anhidrosis 12 54 15 39 17 71 32
Hypohidrosis 43 17
Absence of Sweating 12
Adiaphoresis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11156
ICD9CM 34 705.0
MeSH 43 D007007
NCIt 49 C34385
SNOMED-CT 67 39659002
ICD10 32 L74.4
UMLS 71 C0003028

Summaries for Anhidrosis

Disease Ontology : 12 A hypohidrosis that is characterized by the inability to sweat and has symptom hyperthermia and dry skin.

MalaCards based summary : Anhidrosis, also known as hypohidrosis, is related to insensitivity to pain, congenital, with anhidrosis and hereditary sensory neuropathy, and has symptoms including hyperthermia and increased sweating. An important gene associated with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are GPCR Pathway and PEDF Induced Signaling. The drugs Ropivacaine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate... more...

Related Diseases for Anhidrosis

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

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 34.5 NTRK1 NAA50
2 hereditary sensory neuropathy 31.8 SPTLC1 NTRK1 NGF NAA50
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.9 IKBKG EDARADD EDAR EDA
4 autonomic neuropathy 30.8 SPTLC1 NTRK1 NGF
5 cholinergic urticaria 30.7 CHRM3 ACHE
6 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 30.7 EDARADD EDAR EDA
7 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 30.7 EDARADD EDAR EDA
8 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 30.6 EDARADD EDAR EDA
9 ectodermal dysplasia 1, hypohidrotic, x-linked 30.6 EDARADD EDAR EDA
10 prurigo nodularis 30.4 NGFR NGF
11 sensory peripheral neuropathy 30.4 SPTLC1 NTRK1 NGF NAA50
12 diabetic neuropathy 30.1 NTRK1 NGFR NGF
13 neuropathy, hereditary sensory and autonomic, type v 29.6 SPTLC1 NTRK1 NGFR NGF NAA50
14 neuropathy, hereditary sensory and autonomic, type ia 29.5 SPTLC1 NAA50
15 anodontia 29.2 IKBKG EDARADD EDAR EDA
16 incontinentia pigmenti 29.2 IKBKG EDAR EDA
17 ectodermal dysplasia 29.1 ORAI1 IKBKG EDARADD EDAR EDA
18 peripheral nervous system disease 29.1 SPTLC1 NTRK1 NGF NAA50 ACHE
19 tooth agenesis 28.7 IKBKG EDARADD EDAR EDA
20 anhidrosis, isolated, with normal sweat glands 12.8
21 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.5
22 hypohidrosis with abnormal palmar dermal ridges 12.4
23 ntrk1 congenital insensitivity to pain with anhidrosis 12.4
24 anhidrosis, familial generalized, with abnormal or absent sweat glands 12.3
25 shaheen syndrome 12.0
26 ameloonychohypohidrotic syndrome 11.9
27 harlequin syndrome 11.8
28 van den bosch syndrome 11.8
29 horner's syndrome 11.6
30 bazex syndrome 11.6
31 naegeli-franceschetti-jadassohn syndrome 11.6
32 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.6
33 witkop syndrome 11.5
34 autosomal recessive congenital ichthyosis 11.4
35 helix syndrome 11.4
36 dermatopathia pigmentosa reticularis 11.4
37 ectodermal dysplasia 15, hypohidrotic/hair type 11.3
38 ectodermal dysplasia and immunodeficiency 1 11.2
39 limb-mammary syndrome 11.2
40 lelis syndrome 11.2
41 horner syndrome, congenital 11.1
42 ichthyosis, congenital, autosomal recessive 2 11.1
43 ichthyosis, congenital, autosomal recessive 1 11.1
44 ichthyosis, congenital, autosomal recessive 4a 11.1
45 ichthyosis, congenital, autosomal recessive 11 11.1
46 ichthyosis, congenital, autosomal recessive 5 11.1
47 ichthyosis, congenital, autosomal recessive 3 11.1
48 ectodermal dysplasia and immunodeficiency 2 11.1
49 ichthyosis, congenital, autosomal recessive 6 11.1
50 immunodeficiency 9 11.1

Graphical network of the top 20 diseases related to Anhidrosis:



Diseases related to Anhidrosis

Symptoms & Phenotypes for Anhidrosis

Symptoms:

12
  • hyperthermia

UMLS symptoms related to Anhidrosis:


increased sweating

GenomeRNAi Phenotypes related to Anhidrosis according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.16 MAPK1
2 Decreased viability GR00055-A-2 10.16 MAPK1
3 Decreased viability GR00221-A-1 10.16 INSRR MAPK1 PKLR
4 Decreased viability GR00221-A-2 10.16 NTRK3 PKLR
5 Decreased viability GR00221-A-3 10.16 MAPK1 NTRK1
6 Decreased viability GR00221-A-4 10.16 MAPK1 NTRK3 PKLR
7 Decreased viability GR00249-S 10.16 CHRM3 EDARADD GLA MAPK1 NTRK1 PKLR
8 Decreased viability GR00301-A 10.16 INSRR NTRK1 PKLR
9 Decreased viability GR00342-S-1 10.16 MAPK1
10 Decreased viability GR00342-S-2 10.16 MAPK1
11 Decreased viability GR00342-S-3 10.16 MAPK1 PKLR
12 Decreased viability GR00381-A-1 10.16 CHRM3 GLA
13 Decreased viability GR00381-A-3 10.16 CHRM3
14 Decreased viability GR00386-A-1 10.16 CHRM3 NGF SPTLC1
15 Decreased viability GR00402-S-2 10.16 ORAI1
16 Increased the percentage of infected cells GR00402-S-1 8.32 ORAI1

MGI Mouse Phenotypes related to Anhidrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ACHE CHRM3 CLDN10 EDARADD GLA IKBKG
2 growth/size/body region MP:0005378 10.28 ACHE CHRM3 EDAR EDARADD GLA IKBKG
3 homeostasis/metabolism MP:0005376 10.24 ACHE CHRM3 CLDN10 EDARADD GLA IKBKG
4 cardiovascular system MP:0005385 10.16 CHRM3 EDAR GLA IKBKG ITPR2 MAPK1
5 mortality/aging MP:0010768 10.16 ACHE EDAR EDARADD GLA IKBKG INSRR
6 integument MP:0010771 9.97 EDAR EDARADD IKBKG ITPR2 MAPK1 NGF
7 nervous system MP:0003631 9.9 ACHE CHRM3 EDARADD GLA MAPK1 NGF
8 hearing/vestibular/ear MP:0005377 9.88 ACHE EDARADD MAPK1 NGFR NTRK1 NTRK3
9 normal MP:0002873 9.56 IKBKG INSRR ITPR2 NGF NGFR NTRK1
10 vision/eye MP:0005391 9.4 ACHE CHRM3 EDAR EDARADD GLA MAPK1

Drugs & Therapeutics for Anhidrosis

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved 84057-95-4 71273 175805
2
Oxybutynin Approved, Investigational 5633-20-5 4634
3 Anesthetics
4 Anesthetics, Local
5 Parasympatholytics
6 Cholinergic Agents
7 Muscarinic Antagonists
8 Cholinergic Antagonists
9 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
2 Study of Weekly Dosing Regimens of Replagal in Patients With Fabry Disease With Incomplete Clinical Response to Long-Term Therapy Completed NCT00068107 Phase 2 Replagal
3 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
4 The Effects of Difference in Pupil Size Between Bilateral Eyes on Cardiac Sympathetic Nervous Activity Following Interscalene Brachial Plexus Block Completed NCT03514342 0.75% ropivacaine
5 International Observational Retrospective Case Review of Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Males and Females With Anderson-Fabry Disease Completed NCT01268241
6 The Use of Topical Oxybutynin 10% for Treating Primary Focal Hyperhidrosis-axillary, Palmar and Plantar. Completed NCT02973659 Oxybutynin;Placebos
7 The Czech National Fabry Disease Screening Study in Patients Diagnosed With Non-infectious Inflammatory Bowel Disease, Functional Dyspepsia or Irritable Bowel Syndrome Recruiting NCT04184986
8 Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02778295
9 Study of Natural History Among Patients With Chinese Hotspot Late-onset Fabry Mutation IVS4+919G>A Through Family Pedigree Analysis Not yet recruiting NCT03222336
10 Evaluation of the Long Term Efficacy of Enzyme Replacement Therapy in Fabry Disease Terminated NCT00149318

Search NIH Clinical Center for Anhidrosis

Cochrane evidence based reviews: hypohidrosis

Genetic Tests for Anhidrosis

Anatomical Context for Anhidrosis

MalaCards organs/tissues related to Anhidrosis:

40
Skin, Testes, Eye, Spinal Cord, Pituitary, T Cells, Kidney

Publications for Anhidrosis

Articles related to Anhidrosis:

(show top 50) (show all 1270)
# Title Authors PMID Year
1
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 54 61
19651702 2009
2
Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis. 54 61
19201660 2009
3
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. 61 54
19127222 2009
4
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. 54 61
19089473 2009
5
Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. 54 61
19250380 2009
6
Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. 61 54
18955016 2009
7
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 61 54
18077166 2008
8
Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis. 54 61
16279365 2005
9
Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them. 54 61
16138253 2005
10
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. 54 61
15468048 2004
11
A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). 61 54
15163901 2004
12
Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. 54 61
15114061 2004
13
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. 61 54
15078381 2004
14
Neurotrophic factors and their receptors in human sensory neuropathies. 54 61
14699981 2004
15
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. 54 61
12949319 2003
16
RET and NTRK1 proto-oncogenes in human diseases. 54 61
12652644 2003
17
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. 54 61
11748840 2001
18
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. 61 54
11744315 2001
19
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. 54 61
11668614 2001
20
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 61 54
11159935 2001
21
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. 61 54
11139246 2001
22
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. 61 54
11071380 2000
23
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. 61 54
10982191 2000
24
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. 61 54
10567924 2000
25
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 54 61
10330344 1999
26
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. 61 54
10233776 1999
27
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 61 54
10090906 1999
28
Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor. 54 61
9290260 1997
29
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 54 61
8696348 1996
30
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response. 54 61
8726095 1996
31
Hypohidrotic ectodermal dysplasia: a case report. 61
31694435 2020
32
Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease. 61
32566958 2020
33
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. 61
32248567 2020
34
Predicting Phenoconversion in Pure Autonomic Failure. 61
32546656 2020
35
Ross Syndrome. 61
32395175 2020
36
Autonomic Testing Profiles in Scans without Evidence of Dopaminergic Deficit (SWEDD). 61
32538867 2020
37
Horner Syndrome Caused by Internal Jugular Vein Catheterization. 61
31350153 2020
38
Horner Syndrome induced by toxoplasmosis infection in a patient with AIDS and disseminated herpes simplex virus. 61
32346650 2020
39
Acquired idiopathic partial anhidrosis successfully treated with adapalene gel. 61
32572970 2020
40
Direct and indirect action modes of acetylcholine in cholinergic urticaria. 61
32565175 2020
41
Regular sweating activities for the treatment of cholinergic urticaria with or without acquired idiopathic generalized anhidrosis. 61
32445244 2020
42
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies. 61
31268817 2020
43
A novel frame shift mutation in STIM1 gene causing primary immunodeficiency. 61
32494559 2020
44
Acquired anhidrosis in a patient with Sjogren syndrome and silicone breast implants. 61
32382632 2020
45
Intractable or persistent hiccups treated with extracranial acupuncture: Two case reports. 61
32443325 2020
46
The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review. 61
31981414 2020
47
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. 61
32250462 2020
48
LEF1 haploinsufficiency causes ectodermal dysplasia. 61
32022899 2020
49
[Do we inspecting the patient face who has shoulder pain?] 61
32297960 2020
50
The role of sweat in the composition of skin microbiome: lessons learned from patients with congenital insensitivity to pain with anhidrosis. 61
31875978 2020

Variations for Anhidrosis

Expression for Anhidrosis

Search GEO for disease gene expression data for Anhidrosis.

Pathways for Anhidrosis

Pathways related to Anhidrosis according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
2
Show member pathways
13.53 NTRK3 NTRK1 NGFR NGF MAPK1 INSRR
3
Show member pathways
13.45 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
4
Show member pathways
13.2 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
5
Show member pathways
12.94 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
6
Show member pathways
12.83 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
7
Show member pathways
12.78 NTRK3 NTRK1 MAPK1 ITPR2 IKBKG
8 12.66 NTRK1 NGFR NGF MAPK1 IKBKG
9
Show member pathways
12.59 NTRK1 NGFR NGF MAPK1 IKBKG
10
Show member pathways
12.55 NTRK3 NTRK1 NGFR NGF MAPK1
11
Show member pathways
12.54 NTRK1 NGF MAPK1 ITPR2
12
Show member pathways
12.47 NTRK1 NGFR NGF MAPK1 ITPR2 IKBKG
13
Show member pathways
12.41 NTRK3 NTRK1 NGFR NGF MAPK1
14
Show member pathways
12.36 NTRK3 NTRK1 NGFR IKBKG
15
Show member pathways
12.3 NTRK3 NTRK1 NGF MAPK1 INSRR
16
Show member pathways
12.23 NGFR NGF MAPK1 ITPR2 IKBKG EDAR
17
Show member pathways
11.9 NTRK1 NGFR NGF MAPK1 IKBKG
18 11.85 NTRK3 NTRK1 NGFR NGF
19 11.75 IKBKG EDARADD EDAR EDA
20
Show member pathways
11.69 NTRK1 NGF MAPK1
21
Show member pathways
11.64 NGFR NGF IKBKG
22 11.61 NTRK3 NTRK1 MAPK1
23 11.58 NTRK3 NTRK1 NGF MAPK1 ITPR2
24
Show member pathways
11.57 NGFR NGF EDARADD EDAR EDA
25
Show member pathways
11.55 NGFR NGF IKBKG
26 11.34 NTRK3 NTRK1 MAPK1
27 11.26 NTRK3 NTRK1 NGFR NGF MAPK1 IKBKG
28
Show member pathways
11.14 NTRK3 NTRK1 NGFR NGF MAPK1
29 10.94 NTRK3 NTRK1 NGF MAPK1 INSRR
30 10.71 MAPK1 IKBKG
31
Show member pathways
10.66 NTRK1 NGF

GO Terms for Anhidrosis

Cellular components related to Anhidrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.7 ORAI1 NTRK3 NTRK1 NGFR INSRR EDA
2 receptor complex GO:0043235 9.26 NTRK3 NTRK1 ITPR2 INSRR
3 axon GO:0030424 9.02 NTRK3 NTRK1 NGF MAPK1 INSRR

Biological processes related to Anhidrosis according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.03 NTRK3 NTRK1 NGFR EDARADD EDAR EDA
2 multicellular organism development GO:0007275 9.98 NTRK3 NTRK1 NGFR INSRR EDARADD EDAR
3 nervous system development GO:0007399 9.93 NTRK3 NTRK1 NGFR CHRM3 ACHE
4 positive regulation of gene expression GO:0010628 9.88 NTRK3 NGF MAPK1 EDAR EDA
5 circadian rhythm GO:0007623 9.7 NTRK3 NTRK1 NGFR
6 positive regulation of kinase activity GO:0033674 9.63 NTRK3 NTRK1 INSRR
7 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 EDARADD EDAR EDA
8 nerve development GO:0021675 9.55 NGFR NGF
9 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.51 NGFR NGF
10 nerve growth factor signaling pathway GO:0038180 9.49 NTRK1 NGF
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 NTRK3 NTRK1 NGF INSRR
12 activation of MAPKK activity GO:0000186 9.43 NTRK1 NGF MAPK1
13 mechanoreceptor differentiation GO:0042490 9.37 NTRK3 NTRK1
14 salivary gland cavitation GO:0060662 9.32 EDAR EDA
15 neurotrophin signaling pathway GO:0038179 8.96 NTRK3 NTRK1
16 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NTRK1 NGFR NGF

Molecular functions related to Anhidrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.97 UGGT2 SPTLC1 PKLR NTRK3 NTRK1 NAA50
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 NTRK3 NTRK1 INSRR
3 acetylcholine binding GO:0042166 9.4 CHRM3 ACHE
4 GPI-linked ephrin receptor activity GO:0005004 9.32 NTRK3 NTRK1
5 nerve growth factor binding GO:0048406 9.16 NTRK1 NGFR
6 neurotrophin receptor activity GO:0005030 8.96 NTRK3 NTRK1
7 neurotrophin binding GO:0043121 8.8 NTRK3 NTRK1 NGFR

Sources for Anhidrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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