Aliases & Classifications for C1 Inhibitor Deficiency

MalaCards integrated aliases for C1 Inhibitor Deficiency:

Name: C1 Inhibitor Deficiency 12 14
Angioedemas, Hereditary 69
Quincke Edema 12
Angioedema 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060002

Summaries for C1 Inhibitor Deficiency

Disease Ontology : 12 A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.

MalaCards based summary : C1 Inhibitor Deficiency, also known as angioedemas, hereditary, is related to acquired angioedema and hereditary angioedema, and has symptoms including peau d'orange and edema. An important gene associated with C1 Inhibitor Deficiency is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement Pathway. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include b cells, testes and small intestine.

Related Diseases for C1 Inhibitor Deficiency

Graphical network of the top 20 diseases related to C1 Inhibitor Deficiency:



Diseases related to C1 Inhibitor Deficiency

Symptoms & Phenotypes for C1 Inhibitor Deficiency

UMLS symptoms related to C1 Inhibitor Deficiency:


peau d'orange, edema

Drugs & Therapeutics for C1 Inhibitor Deficiency

Drugs for C1 Inhibitor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 130308-48-4, 138614-30-9 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
4
Lactitol Investigational Phase 4 585-86-4 3871
5 Analgesics Phase 4,Phase 3,Phase 1
6 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
9 Antirheumatic Agents Phase 4,Phase 3,Phase 1
10 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
11 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
14 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Kininogens Phase 4,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
17 Vasodilator Agents Phase 4,Phase 3,Phase 1
18 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
19 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
20 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
21 Antibodies Phase 4,Phase 1
22 Immunoglobulins Phase 4,Phase 1
23 Anti-Allergic Agents Phase 4
24 Anti-Asthmatic Agents Phase 4
25 Respiratory System Agents Phase 4
26 histidine Nutraceutical Phase 4
27
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
28
Tranexamic Acid Approved Phase 3 1197-18-8 5526
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3,Phase 2
33 Fibrinolytic Agents Phase 3
34 Hemostatics Phase 3
35 Kallikreins Phase 3,Phase 2,Phase 1
36 Plasma Kallikrein Phase 3,Phase 2,Phase 1
37 Passionflower Nutraceutical Phase 3
38
Danazol Approved Phase 2 17230-88-5 28417
39 Estrogen Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Estrogens Phase 2
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Fertility Agents Phase 2
46
Digoxin Approved Phase 1 20830-75-5 2724385 30322
47
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
48
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
49
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
50
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594

Interventional clinical trials:

(show top 50) (show all 78)

# Name Status NCT ID Phase Drugs
1 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
2 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
3 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
4 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
7 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
8 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
9 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
10 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
11 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
12 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
13 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
14 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
15 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
16 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
17 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
18 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
19 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
20 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
21 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
22 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
23 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
24 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
25 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
26 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
27 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
28 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
29 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
30 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
31 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
32 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
33 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
34 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Active, not recruiting NCT01386658 Phase 3 icatibant
35 Long-term Safety and Efficacy Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
36 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
37 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
38 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
39 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
40 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
41 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
42 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
43 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
44 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
45 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
46 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
47 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00261053 Phase 2 i.v. recombinant human C1 inhibitor
48 Kinetics, Efficacy and Safety of C1-Esteraseremmer-N Completed NCT00119431 Phase 2 C1 inhibitor concentrate
49 Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks Completed NCT01756157 Phase 2
50 Efficacy and Safety Study to Evaluate Two Doses of Oral DMI-5207 in Adult Subjects With Diabetic Macular Edema Completed NCT02002403 Phase 2 Danazol

Search NIH Clinical Center for C1 Inhibitor Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for C1 Inhibitor Deficiency

Anatomical Context for C1 Inhibitor Deficiency

MalaCards organs/tissues related to C1 Inhibitor Deficiency:

38
B Cells, Testes, Small Intestine, Spleen

Publications for C1 Inhibitor Deficiency

Articles related to C1 Inhibitor Deficiency:

(show top 50) (show all 103)
# Title Authors Year
1
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
2
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
3
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
4
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
5
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
6
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
7
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
8
Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1. ( 27187751 )
2016
9
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
10
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
11
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
12
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
13
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
14
C1 inhibitor deficiency: 2014 United Kingdom Consensus Document. ( 25605519 )
2015
15
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015
16
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
17
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
18
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
19
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
20
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
21
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. ( 26535898 )
2015
22
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
23
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
24
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
25
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. ( 24467750 )
2014
26
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? ( 24565597 )
2014
27
Bradykinin-mediated hereditary angioedema (non-estrogen-dependent) without C1 inhibitor deficiency. ( 25219115 )
2014
28
A case of transient acquired C1 inhibitor deficiency. ( 24950848 )
2014
29
Improving C1 inhibitor deficiency (type 1 and type 2 hereditary angioedema) in Latin America. ( 25668899 )
2014
30
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. ( 24970460 )
2014
31
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. ( 23634741 )
2013
32
Recurrent angio-oedema--three cases of C1 inhibitor deficiency. ( 24968556 )
2013
33
Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. ( 23937903 )
2013
34
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. ( 24565617 )
2013
35
Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. ( 24054366 )
2013
36
Small bowel angioedema due to acquired C1 inhibitor deficiency: a case report and overview. ( 23255023 )
2013
37
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. ( 23726531 )
2013
38
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 23653967 )
2013
39
In pursuit of excellence: an integrated care pathway for C1 inhibitor deficiency. ( 23607500 )
2013
40
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. ( 22197274 )
2012
41
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. ( 22288585 )
2012
42
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. ( 22126399 )
2012
43
Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. ( 22817696 )
2012
44
Angio-oedema due to hereditary C1 inhibitor deficiency in children. ( 22417938 )
2012
45
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. ( 21760740 )
2011
46
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. ( 21039598 )
2011
47
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. ( 20804470 )
2011
48
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. ( 22230421 )
2011
49
Kinin formation in C1 inhibitor deficiency. ( 20381848 )
2010
50
Successful treatment of acquired C1 inhibitor deficiency with icatibant. ( 20337653 )
2010

Variations for C1 Inhibitor Deficiency

Expression for C1 Inhibitor Deficiency

Search GEO for disease gene expression data for C1 Inhibitor Deficiency.

Pathways for C1 Inhibitor Deficiency

GO Terms for C1 Inhibitor Deficiency

Cellular components related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 C1S KLKB1 KNG1 MASP2 SERPING1
2 platelet alpha granule lumen GO:0031093 9.16 KNG1 SERPING1
3 blood microparticle GO:0072562 9.13 C1S KNG1 SERPING1
4 extracellular region GO:0005576 9.1 C1S KLKB1 KNG1 MASP2 SERPING1 SPINT2

Biological processes related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.71 C1S MASP2 SERPING1
2 immune system process GO:0002376 9.69 C1S MASP2 SERPING1
3 inflammatory response GO:0006954 9.67 BDKRB2 KLKB1 KNG1
4 blood coagulation GO:0007596 9.61 KLKB1 KNG1 SERPING1
5 platelet degranulation GO:0002576 9.56 KNG1 SERPING1
6 regulation of complement activation GO:0030449 9.55 C1S SERPING1
7 complement activation, classical pathway GO:0006958 9.54 C1S MASP2 SERPING1
8 complement activation GO:0006956 9.52 C1S MASP2
9 negative regulation of endopeptidase activity GO:0010951 9.5 KNG1 SERPING1 SPINT2
10 blood circulation GO:0008015 9.48 BDKRB2 SERPING1
11 vasodilation GO:0042311 9.46 BDKRB2 KNG1
12 negative regulation of peptidase activity GO:0010466 9.43 KNG1 SERPING1 SPINT2
13 fibrinolysis GO:0042730 9.4 KLKB1 SERPING1
14 complement activation, lectin pathway GO:0001867 9.16 C1S MASP2
15 hemostasis GO:0007599 9.13 KLKB1 KNG1 SERPING1
16 blood coagulation, intrinsic pathway GO:0007597 8.8 KLKB1 KNG1 SERPING1

Molecular functions related to C1 Inhibitor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 C1S KLKB1 MASP2
2 serine-type endopeptidase activity GO:0004252 9.33 C1S KLKB1 MASP2
3 serine-type endopeptidase inhibitor activity GO:0004867 9.26 SERPING1 SPINT2
4 serine-type peptidase activity GO:0008236 9.13 C1S KLKB1 MASP2
5 peptidase inhibitor activity GO:0030414 8.8 KNG1 SERPING1 SPINT2

Sources for C1 Inhibitor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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