MCID: CCT002
MIFTS: 47

Cicatricial Pemphigoid malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Cicatricial Pemphigoid

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 65UMLS, 51Orphanet, 47Novoseek, 36MeSH, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cicatricial Pemphigoid:

Name: Cicatricial Pemphigoid 10 45 12
Benign Mucous Membrane Pemphigoid with Ocular Involvement 10 65
Pemphigoid, Benign Mucous Membrane 36 65
Ocular Pemphigoid 10 51
Cicatricial Pemphigoid with Ocular Involvement 10
 
Benign Mucous Membrance Pemphigoid 45
Benign Mucous Membrane Pemphigoid 10
Benign Mucosal Pemphigoid 45
Pemphigoid Cicatricial 47
Ocular Pemphigus 10

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:11656
ICD1027 L12.1, H13.3
ICD9CM29 694.6, 694.61
MeSH36 D010390
NCIt42 C34907
Orphanet51 99922
ICD10 via Orphanet28 H13.3*, L12+
UMLS65 C0030804, C0157721

Summaries for Cicatricial Pemphigoid

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NIH Rare Diseases:45 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 ocular cicatricial pemphigoid and mucous membrane pemphigoid. An important gene associated with Cicatricial Pemphigoid is COL17A1 (Collagen Type XVII Alpha 1), and among its related pathways are a6b1 and a6b4 Integrin signaling and Validated transcriptional targets of AP1 family members Fra1 and Fra2. Affiliated tissues include mucous membranes, skin and skin, and related mouse phenotypes are digestive/alimentary and craniofacial.

Disease Ontology:10 A bullous skin disease characterized by skin lesions and scaring and located in mucous membranes and located in skin.

Wikipedia:68 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

Related Diseases for Cicatricial Pemphigoid

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



Diseases related to cicatricial pemphigoid

Symptoms for Cicatricial Pemphigoid

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Drugs & Therapeutics for Cicatricial Pemphigoid

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 1, Phase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
InfliximabapprovedPhase 1, Phase 2349170277-31-3
Synonyms:
Ig gamma-1 chain C region
 
Inflectra
Remicade
Remsima
3
Riboflavinapproved, nutraceuticalPhase 1, Phase 215083-88-5493570
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)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
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
Hyre
Lactobene
 
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavin
Riboflavin phosphate sodium dihydrate
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
e101
4
Folic Acidapproved, nutraceuticalPhase 1, Phase 2292459-30-36037
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
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
5Antirheumatic AgentsPhase 1, Phase 28496
6Immunologic FactorsPhase 1, Phase 218483
7Trace ElementsPhase 1, Phase 23900
8Vitamin B ComplexPhase 1, Phase 22847
9MicronutrientsPhase 1, Phase 23901
10Dermatologic AgentsPhase 1, Phase 24555
11VitaminsPhase 1, Phase 23857
12Photosensitizing AgentsPhase 1, Phase 2374
13Gastrointestinal AgentsPhase 1, Phase 26401
14Vitamin B2NutraceuticalPhase 1, Phase 2150
15Vitamin B9NutraceuticalPhase 1, Phase 22924
16FolateNutraceuticalPhase 1, Phase 22924
17Immunoglobulins, IntravenousPhase 1211
18Rho(D) Immune GlobulinPhase 1206
19ImmunoglobulinsPhase 14477
20CyclosporinsPhase 1873
21AntibodiesPhase 14477
22Immunosuppressive Agents10422
23Autoantibodies117

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
3Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet TransplantationAvailableNCT02149732Phase 1, Phase 2
4Topical Infliximab in Autoimmune Eyes With KeratoprosthesisEnrolling by invitationNCT02126020Phase 1, Phase 2
5Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialNot yet recruitingNCT02318485Phase 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 ConditionsRecruitingNCT02042027Phase 1
8Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort StudyCompletedNCT00116090
9Immune 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:

33
Skin, Eye, Breast, Lung, Endothelial, Bone, Brain

FMA organs/tissues related to Cicatricial Pemphigoid:

16
Mucous membranes, Skin

Animal Models for Cicatricial Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Cicatricial Pemphigoid:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4ITGB4, LAMA3, LAMC2, SERPINH1, TGFB1
2MP:00053828.3ITGB4, LAMA3, LAMC2, SERPINH1, TGFB1

Publications for Cicatricial Pemphigoid

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Articles related to Cicatricial Pemphigoid:

(show top 50)    (show all 427)
idTitleAuthorsYear
1
Metal Ion-dependent Heavy Chain Transfer Activity of TSG-6 Mediates Assembly of the Cumulus-Oocyte Matrix. (26468290)
2015
2
Inhibition of STAT3 with orally active JAK inhibitor, AZD1480, decreases tumor growth in Neuroblastoma and Pediatric Sarcomas In vitro and In vivo. (23531921)
2013
3
Diagnosis, treatment and prognosis of Guillain-BarrAc syndrome (GBS). (23628447)
2013
4
Acute pancreatitis complicated by ST-elevation myocardial infarction. (23498324)
2013
5
Dose-response and efficacy of ferric citrate to treat hyperphosphatemia in hemodialysis patients: a short-term randomized trial. (23369827)
2013
6
Pulmonary hypertension associated with chronic hemolytic anemia and other blood disorders. (24267302)
2013
7
Surgical management of bisphosphonate-related osteonecrosis of the jaw: report of three cases. (23614172)
2013
8
Identifying mechanisms by which Escherichia coli O157:H7 subverts interferon-I^ mediated signal transducer and activator of transcription-1 activation. (22253910)
2012
9
Small interfering RNA targeting Apollon enhances the chemosensitivity of hepatocellular carcinoma cells in vitro]. (22027771)
2011
10
Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin]. (21458130)
2011
11
Intravenous rehydration in paediatric gastroenteritis. (22094317)
2011
12
Comment on: Cutaneous and mucocutaneous leishmaniasis in Tigray, northern Ethiopia: clinical aspects and therapeutic concerns. (19836815)
2010
13
Mcl1 haploinsufficiency protects mice from Myc-induced acute myeloid leukemia. (20484815)
2010
14
Low levels of plasma endothelin-1 in patients with retinitis pigmentosa. (20668718)
2010
15
Risk factors for anthroponotic cutaneous Leishmaniasis at the household level in Kabul, Afghanistan. (20351787)
2010
16
Chemokine receptor CXCR4 expression is correlated with VEGF expression and poor survival in soft-tissue sarcoma. (19107931)
2009
17
The 3Ms of central spindle assembly: microtubules, motors and MAPs. (19197328)
2009
18
Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. (19372343)
2009
19
A manganese transporter, BB0219 (BmtA), is required for virulence by the Lyme disease spirochete, Borrelia burgdorferi. (19218460)
2009
20
Higher activation of TLR9 in plasmacytoid dendritic cells by microbial DNA compared with self-DNA based on CpG-specific recognition of phosphodiester DNA. (19620253)
2009
21
The monoclonal antibody 6B9 recognizes CD44 and not cell surface transglutaminase 2. (18803608)
2008
22
Mechanisms for cytotoxic effects of anti-tumor necrosis factor agents on transmembrane tumor necrosis factor alpha-expressing cells: comparison among infliximab, etanercept, and adalimumab. (18438840)
2008
23
PirB, a second receptor for the myelin inhibitors of axonal regeneration Nogo66, MAG, and OMgp: implications for regeneration in vivo. (19081369)
2008
24
Transforming growth factor-beta1 affects interleukin-10 production in the bone marrow of patients with chronic idiopathic neutropenia. (17961177)
2007
25
Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor. (17478419)
2007
26
Role of disulfide bridges formed in the luminal domain of ATF6 in sensing endoplasmic reticulum stress. (17101776)
2007
27
Late stent thrombosis associated with coronary aneurysm formation after sirolimus-eluting stent implantation. (17404416)
2007
28
Low molecular weight isoforms of the aggrecanases are responsible for the cytokine-induced proteolysis of aggrecan in a porcine chondrocyte culture system. (17763444)
2007
29
The cysteine string protein multimeric complex. (16875662)
2006
30
Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome. (16801550)
2006
31
Amyloid beta protein immunotherapy neutralizes Abeta oligomers that disrupt synaptic plasticity in vivo. (15834427)
2005
32
Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. (15637424)
2005
33
Functions and mechanisms of redox regulation of cysteine-based phosphatases. (15890001)
2005
34
Cerebellar Purkinje cell loss in aging Hu-Bcl-2 transgenic mice. (15236231)
2004
35
Quantification of photosynthetic gene expression in maize C(3) and C(4) tissues by real-time PCR. (16245088)
2003
36
Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family. (12228244)
2002
37
Effects of pharmacological manipulations of cannabinoid receptors on severity of dystonia in a genetic model of paroxysmal dyskinesia. (12421641)
2002
38
Pre- and postoperative transaminase changes within the scope of gastric banding in morbid obesity]. (11594118)
2001
39
Polymerase chain reaction for detection of carcinoembryonic antigen-expressing tumor cells on milky spots of the greater omentum in gastric cancer patients: a pilot study. (11494226)
2001
40
Ras and Rho protein induction of motility and invasion in T47D breast adenocarcinoma cells. (11400341)
2001
41
p53 status: an indicator for the effect of preoperative radiotherapy of rectal cancer. (10435809)
1999
42
Growth hormone and insulin-like growth factor-I enhance beta-glucuronidase gene activation by androgen in mouse kidney. (10459853)
1999
43
Enhanced oxidative stress in haemodialysis patients receiving intravenous iron therapy. (10534512)
1999
44
Proliferating cell nuclear antigen (PCNA) in relation to ras, c-erbB-2,p53, clinico-pathological variables and prognosis in colorectal adenocarcinoma. (8600060)
1996
45
Evaluation of ex vivo expansion potential of cord blood and bone marrow hematopoietic progenitor cells using cell tracking and limiting dilution analysis. (7536490)
1995
46
The binding of 2-deoxy-D-glucose 6-phosphate to glycogen phosphorylase b: kinetic and crystallographic studies. (7500360)
1995
47
Successful treatment of cystinuria with captopril. (8488818)
1993
48
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. (8432076)
1993
49
The megacystis-microcolon-intestinal hypoperistalsis syndrome. A case report. (4095785)
1985
50
Acute mountain sickness. (5782719)
1969

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:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.7COL17A1, ITGB4
29.7ITGB4, LAMA3
39.6LAMA3, TGFB1
49.6LAMA3, TGFB1
5
Show member pathways
9.2ITGB4, LAMA3, LAMC2
69.2ITGB4, LAMA3, LAMC2
7
Show member pathways
9.1LAMA3, LAMC2, TGFB1
89.1LAMA3, LAMC2, TGFB1
98.8LAMA3, LAMC2, NID1
10
Show member pathways
8.5COL17A1, DST, ITGB4, LAMA3, LAMC2
11
Show member pathways
8.5COL17A1, DST, ITGB4, LAMA3, LAMC2
12
Show member pathways
8.3COL17A1, ITGB4, LAMA3, LAMC2, TGFB1
13
Show member pathways
7.9CD79A, COL17A1, ITGB4, LAMA3, LAMC2, TGFB1
14
Show member pathways
7.8COL17A1, DST, ITGB4, LAMA3, LAMC2, SERPINH1
15
Show member pathways
7.8ITGB4, LAMA3, LAMC2, NID1, TGFB1
16
Show member pathways
6.5COL17A1, DST, ITGB4, LAMA3, LAMC2, NID1

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
1basement membraneGO:00056049.8DST, LAMA3
2hemidesmosomeGO:00300569.6COL17A1, ITGB4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cell-matrix adhesionGO:000716010.0COL17A1, ITGB4
2regulation of cell migrationGO:00303349.8LAMA3, TGFB1
3digestive tract developmentGO:00485659.8ITGB4, TGFB1
4hemidesmosome assemblyGO:00315819.6COL17A1, ITGB4, LAMC2
5response to woundingGO:00096119.3DST, ITGB4, TGFB1
6epidermis developmentGO:00085449.0COL17A1, LAMA3, LAMC2
7extracellular matrix disassemblyGO:00226178.5COL17A1, LAMA3, LAMC2, NID1

Sources for Cicatricial Pemphigoid

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet