MCID: CCT002
MIFTS: 50

Cicatricial Pemphigoid malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Cicatricial Pemphigoid

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 66UMLS, 52Orphanet, 48Novoseek, 37MeSH, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 11 46 13
Benign Mucous Membrane Pemphigoid with Ocular Involvement 11 66
Pemphigoid, Benign Mucous Membrane 37 66
Ocular Pemphigoid 11 52
Cicatricial Pemphigoid with Ocular Involvement 11
 
Benign Mucous Membrance Pemphigoid 46
Benign Mucous Membrane Pemphigoid 11
Benign Mucosal Pemphigoid 46
Pemphigoid Cicatricial 48
Ocular Pemphigus 11

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:11656
ICD1028 L12.1, H13.3
ICD9CM30 694.6, 694.61
MeSH37 D010390
NCIt43 C34907
Orphanet52 ORPHA99922
ICD10 via Orphanet29 H13.3*, L12+

Summaries for Cicatricial Pemphigoid

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NIH Rare Diseases:46 Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. the condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. scarring of the affected  mucosa of the eye may lead to blindness and tends to be the most feared complication. a combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as bp180, bp230, and laminin 5.  treatment is dependent on the person's specific symptoms. last updated: 11/14/2014

MalaCards based summary: Cicatricial Pemphigoid, also known as benign mucous membrane pemphigoid with ocular involvement, is related to lichen sclerosus and ocular cicatricial pemphigoid, and has symptoms including exanthema, discharge from eye and coma blister. An important gene associated with Cicatricial Pemphigoid is LAMA3 (Laminin Subunit Alpha 3), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and a6b1 and a6b4 Integrin signaling. Affiliated tissues include mucous membranes, skin and skin.

Disease Ontology:11 A bullous skin disease characterized by skin lesions and scaring and located in mucous membranes and located in skin.

Wikipedia:69 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

Related Diseases for Cicatricial Pemphigoid

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1lichen sclerosus30.2COL17A1, DST, ITGB4
2ocular cicatricial pemphigoid12.7
3brunsting-perry syndrome11.7
4bullous pemphigoid10.5
5giant ganglionic hyperplasia10.5COL17A1, DST
6submandibular gland cancer10.5COL17A1, DST
7epidermolysis bullosa10.4
8tinea cruris10.4COL17A1, DST
9spinocerebellar ataxia 2310.4DST, ITGB4
10epidermolysis bullosa acquisita10.4
11cirrhotic cardiomyopathy10.3COL17A1, DST
12gingivitis10.3
13laryngitis10.3
14rheumatoid arthritis10.3
15arthritis10.3
16pemphigus10.2
17geniculate herpes zoster10.2COL17A1, DST
18ankylosis10.2CD79A, SERPINH1
19cataract10.2
20esophagitis10.2
21linear iga disease10.2
22artery disease10.2CD79A, SERPINH1
23epidermolysis bullosa, junctional, non-herlitz type10.2COL17A1, ITGB4, LAMA3
24mesangial proliferative glomerulonephritis10.2CD79A, CFP
25pemphigus vulgaris10.1
26entropion10.1
27familial retinoblastoma10.1COL17A1, DST, ITGB4
28small non-cleaved cell lymphoma10.1COL17A1, DST, ITGB4
29conjunctivitis10.1
30psoriasis10.1CD79A, TNFRSF1B
31peptic esophagitis10.1CD79A, TNFRSF1B
32tetanus10.1CD79A, TNFRSF1B
33lacrimal gland carcinoma10.0CD79A, CFP
34large cell acanthoma10.0ITGB4, LAMA3, SERPINH1
35malignant histiocytosis10.0CD79A, COL17A1, DST
36blood group incompatibility10.0CD79A, COL17A1, DST
37diabetic macular edema10.0CD79A, COL17A1, DST
38fetal erythroblastosis10.0CD79A, TNFRSF1B
39vaginal squamous tumor10.0CD79A, TNFRSF1B
40salpingitis10.0CD79A, TNFRSF1B
41keratitis10.0
42erythema multiforme10.0
43lymphoma10.0
44corneal ulcer10.0
45lupus erythematosus10.0
46crest syndrome10.0CD79A, TNFRSF1B
47spondylosis10.0CD79A, TNFRSF1B
48early congenital syphilis9.9CD79A, TNFRSF1B
49lacrimal system cancer9.9CD79A, TNFRSF1B
50achilles bursitis9.9CD79A, TNFRSF1B

Comorbidity relations with Cicatricial Pemphigoid via Phenotypic Disease Network (PDN):


Corneal Ulcer

Graphical network of the top 20 diseases related to Cicatricial Pemphigoid:



Diseases related to cicatricial pemphigoid

Symptoms for Cicatricial Pemphigoid

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UMLS symptoms related to Cicatricial Pemphigoid:


exanthema, discharge from eye, coma blister

Drugs & Therapeutics for Cicatricial Pemphigoid

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabPhase 1, Phase 21611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
infliximabPhase 1, Phase 2364170277-31-3
Synonyms:
 
Ig gamma-1 chain C region
Remicade
3
RiboflavinNutraceuticalPhase 1, Phase 215883-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
4
Folic AcidNutraceuticalPhase 1, Phase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
5FolateNutraceuticalPhase 1, Phase 24143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial Evaluating Rituximab in Ocular Cicatricial PemphigoidCompletedNCT00584935Phase 1, Phase 2
2Use of Cross-linked Donor Corneas as Carriers for the Boston KeratoprosthesisRecruitingNCT01582880Phase 1, Phase 2
3Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialRecruitingNCT02318485Phase 2
4Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet TransplantationAvailableNCT02149732Phase 1, Phase 2
5Topical Infliximab in Autoimmune Eyes With KeratoprosthesisEnrolling by invitationNCT02126020Phase 1, Phase 2
6The Improvement of Limbal Epithelial Culture Technique by Using Collagenase to Isolate Limbal Stem CellsRecruitingNCT02202642Phase 1
7Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory ConditionsWithdrawnNCT02042027Phase 1
8Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort StudyCompletedNCT00116090
9Genetic Susceptibility and Influence of the Microbiomae in Bullous PemphigoidRecruitingNCT02874079
10Immune Responses to Antigens in Non-infectious Eye Inflammatory DiseasesEnrolling by invitationNCT00357071

Search NIH Clinical Center for Cicatricial Pemphigoid


Cochrane evidence based reviews: pemphigoid, benign mucous membrane

Genetic Tests for Cicatricial Pemphigoid

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Anatomical Context for Cicatricial Pemphigoid

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MalaCards organs/tissues related to Cicatricial Pemphigoid:

34
Skin, Eye, Testes, Lung, Neutrophil, T cells, Pancreas

FMA organs/tissues related to Cicatricial Pemphigoid:

17
Mucous membranes, Skin

Animal Models for Cicatricial Pemphigoid or affiliated genes

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Publications for Cicatricial Pemphigoid

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Articles related to Cicatricial Pemphigoid:

(show top 50)    (show all 431)
idTitleAuthorsYear
1
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. (26632795)
2015
2
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. (21552176)
2011
3
Cicatricial pemphigoid in accompany with rheumatoid arthritis: a case report. (21180281)
2010
4
Early onset childhood cicatricial pemphigoid: a case report and review of the literature. (20537062)
2010
5
Cyclophosphamide and amniotic membrane transplantation in the management of ocular disease in a case of antiepiligrin cicatricial pemphigoid. (19747320)
2009
6
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. (18724167)
2008
7
Ocular involvement in anti-epiligrin cicatricial pemphigoid. (17191196)
2006
8
Cicatricial pemphigoid with widespread bullous eruption. (17040507)
2006
9
Cicatricial pemphigoid and dry eye. (16020349)
2005
10
Human mast cell subtypes in conjunctiva of patients with atopic keratoconjunctivitis, ocular cicatricial pemphigoid and Stevens-Johnson syndrome. (14566647)
2003
11
Role of connective tissue growth factor in the pathogenesis of conjunctival scarring in ocular cicatricial pemphigoid. (12714635)
2003
12
Cicatricial pemphigoid--a case report. (17664749)
2001
13
Interleukin 1 components in cicatricial pemphigoid. Role in intravenous immunoglobulin therapy. (11448121)
2001
14
Image interpretation session: 1999. Benign mucous membrane pemphigoid (cicatricial pemphigoid). (10682788)
2000
15
Chronic graft-vs.-host disease with severe cicatrizing conjunctivitis mimicking cicatricial pemphigoid. (10886174)
2000
16
Anti-epiligrin cicatricial pemphigoid with antibodies against the gamma2 subunit of laminin 5. (10052402)
1999
17
Linear IgA dermatosis mimicking ocular cicatricial pemphigoid. (10555732)
1999
18
Treatment of ocular cicatricial pemphigoid with intravenous gammaglobulin. (9689316)
1998
19
Conjunctival scarring after eyelid surgery as first sign of ocular cicatricial pemphigoid. (9076789)
1997
20
Ocular cicatricial pemphigoid and ocular manifestations of pemphigus vulgaris. (9269598)
1997
21
Four Japanese patients with cicatricial pemphigoid showing both IgG and IgA antibodies against the 180 kDa bullous pemphigoid antigen. (9292089)
1997
22
Cicatricial pemphigoid treated with intravenous immunoglobulin. (9349361)
1997
23
Management of airway obstruction in cicatricial pemphigoid. (8699892)
1996
24
Progression of disease in ocular cicatricial pemphigoid. (8703876)
1996
25
Cicatricial pemphigoid autoantibodies react with multiple sites on the BP180 extracellular domain. (8592065)
1996
26
Barium studies in esophageal cicatricial pemphigoid. (7787730)
1995
27
Ocular cicatricial pemphigoid. A case report of monozygotic twins discordant for the disease. (7864752)
1995
28
Autoantibodies from patients with cicatricial pemphigoid target different sites in epidermal basement membrane. (7861004)
1995
29
Retractor plication for lower lid entropion in ocular cicatricial pemphigoid. (8333940)
1993
30
Vulvar cicatricial pemphigoid as a lichen sclerosus imitator. A case report. (1619612)
1992
31
Results of buccal mucosal grafting for patients with medically controlled ocular cicatricial pemphigoid. (1565450)
1992
32
Salt-split human skin substrate for the immunofluorescent screening of serum from patients with cicatricial pemphigoid and a new method of immunoprecipitation with IgA antibodies. (1869683)
1991
33
Cicatricial pemphigoid. Identification of two distinct sets of epidermal antigens by IgA and IgG class circulating autoantibodies. (2241199)
1990
34
Immunopathology of cicatricial pemphigoid affecting the conjunctiva. (1979435)
1990
35
Mast cells in conjunctiva affected by cicatricial pemphigoid. (2671849)
1989
36
Cicatricial pemphigoid of upper digestive and respiratory tracts. (3552189)
1987
37
Cicatricial pemphigoid. A case of onset at age 5. (3511219)
1986
38
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). (3536333)
1986
39
Ocular cicatricial pemphigoid with granular IgA and complement deposition. (3904684)
1985
40
Occurrence of cicatricial pemphigoid and leiomyosarcoma in a psoriatic patient. (3891438)
1985
41
Cicatricial pemphigoid of the vulva. (3895957)
1985
42
Childhood cicatricial pemphigoid with linear IgA deposits: a case report. (2413697)
1985
43
Cicatricial pemphigoid and erythema multiforme. (6337967)
1983
44
Juvenile cicatricial pemphigoid with persistent bullous eruption: a new entity? (6754929)
1982
45
Case 32, part 2. Cicatricial pemphigoid (benign mucous membrane pemphigoid). (6999138)
1980
46
Association of cicatricial pemphigoid and rheumatoid arthritis. (367284)
1979
47
Enigma of ocular cicatricial pemphigoid. A comparative study of clinical and immunological findings. (398602)
1979
48
Immunologic aspects of cicatricial pemphigoid. (1090180)
1975
49
Letter: Cicatricial pemphigoid. (4814935)
1974
50
Pemphigus-like antibodies in cicatricial pemphigoid. (4592565)
1974

Variations for Cicatricial Pemphigoid

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Expression for genes affiliated with Cicatricial Pemphigoid

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Search GEO for disease gene expression data for Cicatricial Pemphigoid.

Pathways for genes affiliated with Cicatricial Pemphigoid

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Pathways related to Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6ITGB4, LAMA3
29.6COL17A1, ITGB4
39.3LAMA3, NID1
4
Show member pathways
8.9COL17A1, DST, ITGB4, LAMA3
5
Show member pathways
8.9COL17A1, DST, ITGB4, LAMA3
6
Show member pathways
8.9CD79A, COL17A1, ITGB4, LAMA3
7
Show member pathways
8.8ITGB4, LAMA3, NID1
8
Show member pathways
8.5COL17A1, DST, ITGB4, LAMA3, SERPINH1
9
Show member pathways
7.6COL17A1, DST, ITGB4, LAMA3, NID1, SERPINH1

GO Terms for genes affiliated with Cicatricial Pemphigoid

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Cellular components related to Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:00300569.8COL17A1, DST, ITGB4
2cell leading edgeGO:00312529.7DST, ITGB4
3endoplasmic reticulum lumenGO:00057889.2CFP, COL17A1, SERPINH1
4membrane raftGO:00451219.2CD79A, SERPINH1, TNFRSF1B
5basement membraneGO:00056049.1COL17A1, DST, LAMA3, NID1
6extracellular regionGO:00055767.8CFP, COL17A1, LAMA3, NID1, TNFRSF1B

Biological processes related to Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:00488709.8DST, ITGB4
2hemidesmosome assemblyGO:00315819.7COL17A1, ITGB4, LAMA3
3cell-matrix adhesionGO:00071608.9COL17A1, ITGB4, NID1
4extracellular matrix organizationGO:00301988.8ITGB4, LAMA3, NID1

Molecular functions related to Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.2NID1, SERPINH1

Sources for Cicatricial Pemphigoid

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet