MCID: ATM019
MIFTS: 42

Autoimmune Polyendocrine Syndrome malady

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

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Aliases & Descriptions for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 11 13
Polyendocrinopathies, Autoimmune 39 68
Autoimmune Polyglandular Failure 11
 
Polyendocrinopathies Autoimmune 50
Autoimmune Polyendocrinopathy 11
Lloyd's Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:14040
ICD1030 E31.0
MeSH39 D016884
NCIt45 C84576

Summaries for Autoimmune Polyendocrine Syndrome

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Disease Ontology:11 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

MalaCards based summary: Autoimmune Polyendocrine Syndrome, also known as polyendocrinopathies, autoimmune, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways are Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and Amine-derived hormones. Affiliated tissues include thyroid, pituitary and testis, and related mouse phenotypes are endocrine/exocrine gland and no phenotypic analysis.

Wikipedia:71 In medicine, autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes... more...

Related Diseases for Autoimmune Polyendocrine Syndrome

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Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii

Diseases related to Autoimmune Polyendocrine Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome, type ii12.5
2autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia11.9
3autoimmune polyglandular syndrome type 311.1
4autoimmune polyendocrinopathy type 411.1
5autoimmune polyendocrinopathy type 311.1
6autosomal recessive congenital methemoglobinemia10.5AIRE, CYP21A2
7dressler's syndrome10.4AIRE, CYP21A2
8atrichia with papular lesions10.4AIRE, CYP21A2
9thyroid cancer, childhood10.4GAD1, TPH1
10angelucci's syndrome10.3AIRE, CASR
11chancroid10.3AIRE, CYP21A2
12glutathionuria10.3GAD2, TPH1
13dyskinetic cerebral palsy10.3GAD1, GAD2
14sequeiros sack syndrome10.2GAD1, GAD2
15measles10.2GAD2, TPH1
16addison's disease10.2
17myd88 deficiency10.2GAD1, GAD2
18hepatitis10.1
19chronic conjunctivitis10.1AIRE, IL17A
20hereditary conventional renal cell carcinoma10.0AIRE, FOXP3
21autoimmune myocarditis10.0FOXP3, IL17A
22autoimmune hepatitis10.0
23hypoparathyroidism10.0
24cardiomyopathy10.0
25bacterial gastritis10.0FOXP3, IL17A
26candidiasis9.9
27chronic mucocutaneous candidiasis9.9
28thyroiditis9.9
29psoriasis9.9
30t cell deficiency9.9AIRE, CASR
31blood group incompatibility9.8AIRE, FOXP3, IL17A
32burn scar9.8FOXP3, IL17A
33parkinson disease, late-onset9.8DDC, GAD1, TPH1
34systemic lupus erythematosus9.8
35hepatocellular carcinoma9.8
36hepatitis c virus9.8
37cerebellar ataxia9.8
38acute leukemia9.8
39alopecia9.8
40leukemia9.8
41primary biliary cirrhosis9.8
42cardiac arrest9.8
43down syndrome9.8
44calcinosis9.8
45hepatitis c9.8
46thrombocytosis9.8
47turner syndrome9.8
48intestinal disease9.8
49neuronitis9.8
50vasculitis9.8

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome:



Diseases related to autoimmune polyendocrine syndrome

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1AIRE, CASR, FOXP3, GAD1, GAD2, TDRD6
2MP:00030128.9AIRE, FOXP3, GAD1, GAD2, IL17A
3MP:00053818.8AIRE, CASR, FOXP3, GAD1, GAD2, IL17A
4MP:00053868.7AIRE, CASR, DDC, FOXP3, GAD1, GAD2
5MP:00053788.0AIRE, CASR, DDC, FOXP3, GAD1, GAD2
6MP:00053768.0AIRE, CASR, DDC, FOXP3, GAD1, GAD2
7MP:00053887.8AIRE, FOXP3, GAD1, GAD2, IL17A, TPH1

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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Drugs for Autoimmune Polyendocrine Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Amphotericin Bapproved, investigationalPhase 21181397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
CID1972
 
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b
2
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3AutoantibodiesPhase 2126
4Liposomal amphotericin BPhase 2118
5Antiprotozoal AgentsPhase 21986
6Antiparasitic AgentsPhase 22127
7Anti-Bacterial AgentsPhase 210884
8Antifungal AgentsPhase 23615
9Anti-Infective AgentsPhase 221402

Interventional clinical trials:

idNameStatusNCT IDPhase
1CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2
2Studies of Disorders With Increased Susceptibility to Fungal InfectionsRecruitingNCT01222741
3Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down SyndromeNot yet recruitingNCT02421276

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome


Cochrane evidence based reviews: polyendocrinopathies, autoimmune

Genetic Tests for Autoimmune Polyendocrine Syndrome

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Anatomical Context for Autoimmune Polyendocrine Syndrome

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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

36
Thyroid, Pituitary, Testis, Brain

Publications for Autoimmune Polyendocrine Syndrome

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Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. (27219120)
2016
2
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. (26830021)
2016
3
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. (27253668)
2016
4
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. (26312540)
2015
5
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. (25821607)
2015
6
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. (25475693)
2015
7
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. (26181530)
2015
8
Autoimmune polyendocrine syndrome and thrombocytosis. (26229032)
2015
9
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component? (25751334)
2015
10
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. (24825086)
2014
11
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
12
Successful management of insulin allergy and autoimmune polyendocrine syndrome type 4 with desensitization therapy and glucocorticoid treatment: a case report and review of the literature. (25548690)
2014
13
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. (24914264)
2014
14
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
15
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
16
A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3). (26000153)
2014
17
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
18
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
19
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
20
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. (23648718)
2013
21
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? (23318858)
2013
22
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (23182718)
2013
23
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
24
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
25
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. (24158785)
2013
26
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
27
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
28
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
29
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
30
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. (21883495)
2012
31
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
32
Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report. (22839422)
2012
33
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. (19303650)
2011
34
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. (22043070)
2011
35
Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. (21535082)
2011
36
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
37
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
38
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
39
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
40
Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient. (20411253)
2010
41
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
42
Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up. (20501686)
2010
43
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (20056249)
2010
44
Autoimmune polyendocrine syndrome type I and brain calcinosis. (19699136)
2010
45
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. (20500699)
2010
46
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
47
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
48
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
49
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. (19382991)
2009
50
Autoimmune hemolityc anemia concomitant with sequential autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Hashimoto's thyroiditis: a new entity of autoimmune polyendocrine syndrome. (19542751)
2009

Variations for Autoimmune Polyendocrine Syndrome

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Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1159448214260000048129895DeletionAIREAutoimmune polyendocrine syndrome

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

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Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome

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GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

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Cellular components related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:00612029.5GAD1, GAD2

Biological processes related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1indolalkylamine biosynthetic processGO:004621910.1DDC, TPH1
2glutamate decarboxylation to succinateGO:00065409.8GAD1, GAD2
3serotonin biosynthetic processGO:00424279.7DDC, TPH1
4neurotransmitter biosynthetic processGO:00421369.5GAD1, GAD2

Molecular functions related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:001659710.2DDC, TPH1
2glutamate bindingGO:001659510.0GAD1, GAD2
3glutamate decarboxylase activityGO:000435110.0GAD1, GAD2
4pyridoxal phosphate bindingGO:00301709.2DDC, GAD1, GAD2

Sources for Autoimmune Polyendocrine Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet