MCID: ERY008
MIFTS: 61

Erythromelalgia malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases categories
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Summaries for Erythromelalgia

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Erythromelalgia (em) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. this condition may occur spontaneously (primary em) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary em). episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. about 15% of cases are caused by mutations in the scn9a gene and are inherited in an autosomal dominant manner. other cases may be caused by unidentified genes or by non-genetic factors. treatment depends on the underlying cause and may include topical and/or oral medications. in some cases, the condition goes away without treatment. last updated: 12/11/2013

MalaCards: Erythromelalgia, also known as primary erythermalgia, is related to paroxysmal extreme pain disorder and myeloproliferative disorder, and has symptoms including acute ischemia of the lower limbs, acute ischemic syndrome and myeloproliferative syndrome/chronic leukemia. An important gene associated with Erythromelalgia is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are Synaptic transmission ion currents and Formation of Fibrin Clot (Clotting Cascade). The compounds lidocaine and bc-iii have been mentioned in the context of this disorder. Affiliated tissues include skin, dorsal root ganglion and endothelial, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:21 Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.

Wikipedia:65 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), acromelalgia, red... more...

Description from OMIM:47 133020,615551

Aliases & Classifications for Erythromelalgia

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 47OMIM, 58SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
erythromelalgia:
Inheritance: Autosomal dominant; Age of onset: Childhood
sodium channelopathy-related small fiber neuropathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000
primary erythermalgia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

erythromelalgia 8 43 21 10 45 49 62
primary erythermalgia 43 49 62
sodium channelopathy-related small fiber neuropathy 49
familial erythromelalgia 21
primary erythromelalgia 21
erythermalgia, primary 47
mitchell disease 43
erythermalgia 21


External Ids:

Disease Ontology8 DOID:9240
ICD9CM27 443.82
MeSH35 D004916
NCIt40 C34593
MESH via Orphanet36 D004916
SNOMED-CT58 37151006, 238777005
ICD10 via Orphanet26 I73.8
SNOMED-CT via Orphanet59 37151006
UMLS via Orphanet63 C0014804

Related Diseases for Erythromelalgia

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17GeneCards, 18GeneDecks
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Diseases in the Erythromelalgia family:

Scn9a-Related Inherited Erythromelalgia

Diseases related to Erythromelalgia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal extreme pain disorder30.5SCN9A
2myeloproliferative disorder30.3PPBP, THBD, PF4
3pain disorder30.3SCN8A, SCN9A, SCN3A
4polycythemia vera30.2PF4, THBD
5vascular disease30.0PF4, THBD
6thrombophilia30.0PF4, THBD, PPBP
7thrombocytosis30.0PPBP, THBD, PF4
8thrombocytopenia30.0PF4, THBD, PPBP
9neuropathy10.4
10neuronitis10.2
11scn9a-related inherited erythromelalgia10.2
12hypertension10.2
13purpura10.2
14essential thrombocythemia10.2
15peripheral vascular disease10.1PPBP
16timothy syndrome10.1SCN4B
17mitral valve stenosis10.1PF4, PPBP
18burns10.1
19diabetic neuropathy10.1
20lupus erythematosus10.1
21polycythemia10.1
22paine syndrome10.1
23small fiber neuropathy10.1
24blindness10.1
25endotheliitis10.1
26thrombotic thrombocytopenic purpura, acquired10.1THBD, PPBP
27adult respiratory distress syndrome10.1PPBP, THBD
28antiphospholipid syndrome10.1PF4, THBD
29hemorrhagic disease10.1PF4, THBD, PPBP
30cervicitis10.0
31hemorrhagic thrombocythemia10.0PF4, THBD, PPBP
32stroke, ischemic10.0PPBP, THBD, PF4
33disseminated intravascular coagulation10.0PPBP, THBD, PF4
34congenital heart disease10.0PPBP, THBD, PF4
35acute myocardial infarction10.0PF4, THBD, PPBP
36systemic scleroderma10.0PPBP, THBD, PF4
37essential hypertension10.0PF4, THBD, PPBP
38venous thrombosis10.0PF4, THBD
39factor v leiden thrombophilia10.0PPBP, THBD, PF4
40dravet syndrome10.0SCN3A, SCN8A
41coronary artery disease10.0PF4, THBD, PPBP
42thromboembolism10.0PF4, THBD
43epilepsy with generalized tonic-clonic seizures10.0SCN3A, SCN8A
44chronic kidney failure10.0PF4, THBD, PPBP
45brugada syndrome10.0SCN4B, SCN8A
46cerebrovascular disease10.0PPBP, THBD, PF4
47sickle cell disease10.0PPBP, PF4
48idiopathic generalized epilepsy10.0SCN8A, SCN3A
49long qt syndrome10.0SCN3A, SCN4B, SCN8A
50axonal neuropathy9.9

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Symptoms for Erythromelalgia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020,615551

Symptoms:

49 (show all 11)
  • acute ischemia of the lower limbs
  • acute ischemic syndrome
  • myeloproliferative syndrome/chronic leukemia
  • vascularitis/vasculitides/arteritis
  • platelet disorders/thrombopathies
  • peripheral neuropathy
  • pruritus/itching
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • repeat respiratory infections
  • hypothermia
  • autosomal dominant inheritance

Drugs & Therapeutics for Erythromelalgia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Erythromelalgia

Search NIH Clinical Center for Erythromelalgia

Genetic Tests for Erythromelalgia

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Anatomical Context for Erythromelalgia

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33MalaCards
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MalaCards organs/tissues related to Erythromelalgia:

33
Skin, Dorsal root ganglion, Endothelial, Spinal cord, Brain, Breast, Heart, Testes

Animal Models for Erythromelalgia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Erythromelalgia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2SCN8A, SCN10A, SCN9A, SCN11A, PSMC4, THBD
2MP:00053867.9PSMC4, SCN11A, SCN3A, SCN9A, SCN10A, SCN8A

Publications for Erythromelalgia

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52PubMed
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Articles related to Erythromelalgia:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? (24433512)
2014
2
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. (23762561)
2013
3
Localized secondary erythromelalgia in an 11-year-old boy. (22612394)
2013
4
Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia. (23768296)
2013
5
Primary erythromelalgia with severe ulcers and successful ulcer treatment with sorbalgon. (22134130)
2012
6
Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. (21798623)
2012
7
Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling. (22365309)
2012
8
Erythromelalgia presenting after neurosurgical intervention in a patient with multiple malformations of the spinal cord. (21920230)
2011
9
Primary erythromelalgia with leukonychia combined with ulcerations and infection by Monilia guilliermondii. (21421200)
2011
10
Massage therapy techniques as pain management for erythromelalgia: a case report. (21589683)
2010
11
A case of erythromelalgia: good response to treatment with gabapentin. (20480803)
2010
12
Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy. (19481586)
2010
13
Erythromelalgia accompanying rosuvastatin-associated myopathy. (21886718)
2009
14
Late-onset erythromelalgia in a previously healthy young woman: a case report and review of the literature. (19946584)
2009
15
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. (19557861)
2009
16
Red ear syndrome and auricular erythromelalgia: the same condition? (19489849)
2009
17
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
18
Thermoregulatory sweat testing in patients with erythromelalgia. (17178984)
2006
19
The use of regional anaesthetic blockade in a child with recurrent erythromelalgia. (12495966)
2003
20
Sympathetic skin response (SSR) in erythromelalgia. (12712804)
2003
21
Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. (12193436)
2002
22
Lidocaine patch for pain of erythromelalgia. (11790162)
2002
23
Hot feet: erythromelalgia and related disorders. (11305688)
2001
24
Erythromelalgia: new theories and new therapies. (11050591)
2000
25
Impaired skin vasomotor reflexes in patients with erythromelalgia. (10209083)
1999
26
Neurophysiologic and vascular studies in erythromelalgia: a retrospective analysis. (19078553)
1999
27
Adenosine for pain relief in a patient with intractable secondary erythromelalgia. (15102395)
1997
28
Erythromelalgia pain managed with gabapentin. (9105243)
1997
29
Erythromelalgia: a clinical study of 87 cases. (9350163)
1997
30
Erythromelalgia and vascular complications in polycythemia vera. (9387203)
1997
31
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
32
Erythromelalgia responding to aspirin. (20948053)
1996
33
Treatment of primary erythromelalgia with cyproheptadine. (8740669)
1996
34
Refractory idiopathic erythromelalgia. (8610879)
1996
35
Erythromelalgia and erythermalgia: lumpers and splitters. (8056472)
1994
36
Erythromelalgia and erythermalgia: diagnostic differentiation. (8056469)
1994
37
Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline. (8451013)
1993
38
Erythermalgia, erythromelalgia, or both? Conditions neglected by rheumatologists. (8441137)
1993
39
Erythromelalgia in a patient with systemic lupus erythematosus treated with clonazepam. (2313664)
1990
40
Erythromelalgia. (2242945)
1990
41
Three types of erythromelalgia. (2078240)
1990
42
Erythromelalgia versus erythermalgia. (1973503)
1990
43
Erythromelalgia and myeloproliferative disorders. (2643412)
1989
44
Thrombocythaemic erythromelalgia in chronic myeloproliferative and myelodysplastic disorders. (2779694)
1989
45
Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. (3977194)
1985
46
Nifedipine and erythromelalgia. (6614705)
1983
47
Erythromelalgia. (535232)
1979
48
Erythromelalgia--a case for biofeedback. (252715)
1978
49
ERYTHROMELALGIA. (14124085)
1964
50
Case of (?) Erythromelalgia: for Diagnosis. (19985941)
1927

Variations for Erythromelalgia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Erythromelalgia:

64
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947
2SCN9Ap.Leu869HisVAR_019948
3SCN9Ap.Ser241ThrVAR_032014
4SCN9Ap.Phe1460ValVAR_032019
5SCN9Ap.Gln10ArgVAR_064595
6SCN9Ap.Phe216SerVAR_064598
7SCN9Ap.Asn395LysVAR_064600
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609

Clinvar genetic disease variations for Erythromelalgia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)single nucleotide variantPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
2NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr)single nucleotide variantBenign, Likely benign, Pathogenicrs41268673GRCh37Chr 2, 167141109: 167141109
3NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)single nucleotide variantPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
4NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)single nucleotide variantPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
5SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)single nucleotide variantPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
6NM_002977.3(SCN9A): c.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
7NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
8SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
9NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
10NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
11SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
12SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238

Expression for genes affiliated with Erythromelalgia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erythromelalgia

Search GEO for disease gene expression data for Erythromelalgia.

Pathways for genes affiliated with Erythromelalgia

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50PathCards, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems
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Compounds for genes affiliated with Erythromelalgia

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45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 24HMDB
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Compounds related to Erythromelalgia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1lidocaine45 29 1112.1SCN10A, SCN9A
2bc-iii2910.0SCN8A, SCN3A
3atx-ii2910.0SCN8A, SCN3A
4aft-ii2910.0SCN8A, SCN3A
5fibrinopeptide a459.9THBD, PF4
6fondaparinux459.9PF4, THBD
7desmopressin45 61 29 1112.8THBD, PPBP
8cilostazol45 1110.8PF4, THBD
9gamma-carboxyglutamic acid459.8THBD, PF4
10saxitoxin299.8SCN3A, SCN9A, SCN8A
11ppbp459.7PPBP, PF4
12cellulose triacetate459.7PPBP, PF4
13iohexol459.7PF4, PPBP
14sertraline45 29 51 24 1113.7PF4, PPBP
15hirudin459.7THBD, PF4
16ticlopidine45 1110.6PPBP, PF4
17polysulfone459.6PF4, PPBP
18quinacrine45 1110.6PF4, PPBP
19zonisamide45 51 1111.5SCN9A, SCN4B, SCN3A, SCN11A
20batrachotoxin299.4SCN3A, SCN9A, SCN10A, SCN8A
2111-dehydrothromboxane b2459.4PPBP, THBD, PF4
226-ketoprostaglandin f1alpha459.4PF4, THBD, PPBP
23ptca459.4PPBP, THBD, PF4
24iloprost61 29 45 1112.4PF4, THBD, PPBP
25txb2459.4PF4, THBD, PPBP
26thromboxane45 2410.4PPBP, THBD, PF4
27dipyridamole45 61 29 1112.4PF4, PPBP
28warfarin45 51 24 1112.4PF4, THBD, PPBP
29pge1459.4PPBP, THBD, PF4
30aprotinin45 1110.4PF4, THBD, PPBP
31citrate459.3PPBP, THBD, PF4
32heparan sulfate45 2410.3PF4, THBD, PPBP
33prostacyclin459.3PF4, THBD, PPBP
34dmso459.3PPBP, THBD, PF4
35aspirin45 51 29 2412.3PPBP, THBD, PF4
36fibrinogen459.2PF4, THBD, PPBP
37histamine45 29 2411.1PF4, THBD, PPBP
38potassium45 24 1110.9PSMC4, PF4, SCN8A
39heparin45 29 24 1111.8PPBP, THBD, PF4, PSMC4
40phrixotoxin 3618.8SCN9A, SCN10A, SCN8A, SCN4B, SCN3A, SCN11A
41tetrodotoxin citrate618.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
42qx 314 chloride618.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
43veratridine45 61 2910.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
44tetrodotoxin45 61 2910.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
45vegf458.7PPBP, THBD, PF4, PSMC4
46alanine458.7PPBP, THBD, PF4, PSMC4
47atp45 299.5PPBP, THBD, PF4, PSMC4
48cysteine458.4PPBP, THBD, PF4, PSMC4
49glucose458.2PSMC4, PF4, THBD, PPBP
50sodium45 247.5PSMC4, PF4, SCN11A, SCN3A, SCN7A, SCN4B

GO Terms for genes affiliated with Erythromelalgia

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16Gene Ontology
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Cellular components related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C-fiberGO:0442999.6SCN11A, SCN10A
2platelet alpha granule lumenGO:0310939.3PF4, PPBP
3voltage-gated sodium channel complexGO:0015187.4SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Biological processes related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to toxic substanceGO:0096369.7SCN9A, SCN8A
2AV node cell to bundle of His cell communicationGO:0860679.5SCN4B, SCN10A
3sodium ion transmembrane transportGO:0357258.2SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
4sodium ion transportGO:0068147.5SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Molecular functions related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine activityGO:0080099.3PF4, PPBP
2voltage-gated sodium channel activityGO:0052487.2SCN11A, SCN3A, SCN7A, SCN4B, SCN9A, SCN10A

Products for genes affiliated with Erythromelalgia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erythromelalgia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet