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MCID: ATN021
MIFTS: 36

Autoinflammatory Syndrome

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Autoinflammatory Syndrome

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MalaCards integrated aliases for Autoinflammatory Syndrome:

Name: Autoinflammatory Syndrome 58 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

UMLS via Orphanet 72 C3267073
Orphanet 58 ORPHA93665
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Summaries for Autoinflammatory Syndrome

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MalaCards based summary : Autoinflammatory Syndrome is related to familial cold autoinflammatory syndrome 2 and proteasome-associated autoinflammatory syndrome 1. An important gene associated with Autoinflammatory Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Deubiquitination. The drugs Rilonacept and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and neutrophil, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

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Related Diseases for Autoinflammatory Syndrome

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

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 33.7 NLRP3 NLRP12
2 proteasome-associated autoinflammatory syndrome 1 32.9 PSMB8 NLRP3
3 familial cold autoinflammatory syndrome 32.9 PLCG2 NLRP3 NLRP12 NLRC4
4 urticaria 30.3 PLCG2 NLRP3
5 periodic fever, familial, autosomal dominant 30.2 NLRP3 NLRP12
6 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 30.2 NLRP3 NLRP12
7 cold urticaria 30.1 PLCG2 NLRP3
8 muckle-wells syndrome 29.9 NLRP3 NLRP12 NLRC4
9 mevalonic aciduria 29.8 NLRP3 NLRP12 NLRC4
10 blau syndrome 29.8 NLRP3 NLRP12 NLRC4
11 cinca syndrome 29.8 NLRP3 NLRP12 NLRC4
12 conjunctivitis 29.6 NLRP3 NLRP12 NLRC4
13 familial cold autoinflammatory syndrome 1 12.7
14 autoinflammatory syndrome, familial, behcet-like 12.6
15 familial cold autoinflammatory syndrome 3 12.6
16 familial cold autoinflammatory syndrome 4 12.6
17 proteasome-associated autoinflammatory syndrome 2 12.6
18 proteasome-associated autoinflammatory syndrome 3 12.5
19 unclassified autoinflammatory syndrome 12.3
20 pyogenic autoinflammatory syndrome of childhood 12.1
21 granulomatous autoinflammatory syndrome of childhood 12.1
22 unclassified autoinflammatory syndrome of childhood 12.1
23 pyogenic autoinflammatory syndrome 12.1
24 granulomatous autoinflammatory syndrome 12.1
25 autoinflammatory syndrome of childhood 12.1
26 autoinflammatory syndrome with skin involvement 12.1
27 autoinflammatory syndrome with immune deficiency 12.1
28 autoinflammation, panniculitis, and dermatosis syndrome 11.8
29 polyglucosan body myopathy 1 with or without immunodeficiency 11.8
30 cryopyrin-associated periodic syndrome 11.6
31 autoinflammation with infantile enterocolitis 11.4
32 osteomyelitis, sterile multifocal, with periostitis and pustulosis 11.3
33 yao syndrome 11.1
34 singleton-merten syndrome 11.1
35 autoinflammation with episodic fever and lymphadenopathy 11.1
36 familial mediterranean fever 10.6
37 brucellosis 10.6
38 exanthem 10.5
39 pyoderma 10.5
40 pyoderma gangrenosum 10.5
41 neurofibromatosis, type ii 10.4
42 wells syndrome 10.4
43 amyloidosis 10.3
44 hyper-igd syndrome 10.3
45 hereditary periodic fever syndrome 10.3
46 schnitzler syndrome 10.3
47 autoimmune disease 10.2
48 juvenile arthritis 10.2
49 juvenile rheumatoid arthritis 10.2
50 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2

Graphical network of the top 20 diseases related to Autoinflammatory Syndrome:



Diseases related to Autoinflammatory Syndrome
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Symptoms & Phenotypes for Autoinflammatory Syndrome

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GenomeRNAi Phenotypes related to Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 NLRC4 NLRP3 PSMB8

MGI Mouse Phenotypes related to Autoinflammatory Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 NLRC4 NLRP12 NLRP3 PLCG2 TNFAIP3
2 hematopoietic system MP:0005397 9.43 NLRC4 NLRP12 NLRP3 PLCG2 PSMB8 TNFAIP3
3 immune system MP:0005387 9.1 NLRC4 NLRP12 NLRP3 PLCG2 PSMB8 TNFAIP3
Sources

Drugs & Therapeutics for Autoinflammatory Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
2 Immunoglobulins Phase 3
3 Antibodies Phase 3
4 Vaccines Phase 3
5 Antibodies, Monoclonal Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Antirheumatic Agents Phase 1, Phase 2
8 Kallikreins Phase 2
9 Pharmaceutical Solutions Phase 2
10 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
2 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
3 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
4 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
5 An Open Label Study to Assess the Safety, Tolerability and Efficacy of Canakinumab (ACZ885) in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
6 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
7 A Three-part,Multicenter Study,With a Randomized,Double-blind,Placebo Controlled,Withdrawal Design in Part II to Assess Efficacy,Safety,and Tolerability of ACZ885(Anti-interleukin-1beta Monoclonal Antibody)in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
8 A Multi-center, Double-blind, Placebo-controlled Phase II Study of the Efficacy and Safety of Canakinumab in Subjects With Schnitzler Syndrome Completed NCT01390350 Phase 2 Canakinumab;Placebo
9 A Phase II Multi Center Open Label Pilot Study To Assess a Potential Effect of an Anti-Il-1-Beta Antagonist in the Treatment of Pyoderma Gangrenosum Completed NCT01302795 Phase 2 Canakinumab
10 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
11 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
12 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
13 Ilaris (Canakinumab) in the Schnitzler Syndrome. A Case Series. Completed NCT01245127 Phase 2 Ilaris
14 Factor XII-associated Cold Autoinflammatory Syndrome (FACAS) Linked to Kallikrein-kinin Pathology: Proof of Concept Treatment With Lanadelumab (DX-2930) Not yet recruiting NCT04278885 Phase 2 Lanadelumab
15 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Phase 2 Study of the Efficacy and Safety of RPH-104 in Adult Subjects With Schnitzler Syndrome Not yet recruiting NCT04213274 Phase 2 Placebo
16 An Open Label, Single Arm Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of HL2351 in Patients With Cryopyrin Associated Periodic Syndromes Terminated NCT02853084 Phase 2 HL2351
17 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD) Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
18 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
19 Admission of Adult-onset Still Disease Patients in the ICU: a French Retrospective Multicentric Study Completed NCT03276650
20 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
21 Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes Recruiting NCT00887939

Search NIH Clinical Center for Autoinflammatory Syndrome

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Genetic Tests for Autoinflammatory Syndrome

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Genetic tests related to Autoinflammatory Syndrome:

# Genetic test Affiliating Genes
1 Autoinflammatory Syndrome 29
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Anatomical Context for Autoinflammatory Syndrome

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MalaCards organs/tissues related to Autoinflammatory Syndrome:

40
Bone, Monocytes, Neutrophil, Kidney, Liver, Breast, Testes
Sources

Publications for Autoinflammatory Syndrome

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Articles related to Autoinflammatory Syndrome:

(show top 50) (show all 313)
# Title Authors PMID Year
1
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
2
The NAIP/NLRC4 inflammasome in infection and pathology. 61
32499055 2020
3
A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene. 61
32513120 2020
4
[ASIA syndrome associated with breast implants: Fortuitous link or association?] 61
32522615 2020
5
OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer. 61
32231246 2020
6
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. 61
32380704 2020
7
Interplay of Cyclic GMP-AMP Synthase/Stimulator of IFN Genes and Toll-Like Receptor Nucleic Acid Sensing Pathways in Autoinflammation and Abnormal Bone Formation due to DNaseII-Deficiency. 61
32286184 2020
8
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2020
9
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. 61
31411330 2020
10
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome. 61
32283203 2020
11
Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) after a silicone injection. 61
32234860 2020
12
Images of the month 1: Schnitzler syndrome: an acquired autoinflammatory syndrome. 61
32188668 2020
13
[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency]. 61
32135594 2020
14
The evaluation of gene polymorphisms associated with autoinflammatory syndrome in patients with palindromic rheumatism complicated by intermittent hydrarthrosis. 61
31897954 2020
15
PsAPASH: a rare and recent autoinflammatory syndrome associated with hidradenitis suppurativa. 61
32063421 2020
16
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2020
17
Aluminum and vaccines: Current state of knowledge. 61
31611133 2020
18
A Patient with Complex Gout with an Autoinflammatory Syndrome and a Sternoclavicular Joint Arthritis as Presenting Symptoms. 61
32082683 2020
19
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. 61
31924766 2020
20
Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes. 61
32475906 2020
21
Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases. 61
32419407 2020
22
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. 61
32425927 2020
23
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. 61
31827281 2020
24
Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: review and update. 61
32523634 2020
25
Psoriasis, arthritis, and pyoderma gangrenosum: an autoinflammatory syndrome or a coincidence? 61
31498876 2019
26
Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome? 61
30877203 2019
27
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. 61
31589380 2019
28
Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. 61
31161734 2019
29
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
30
Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state. 61
31353537 2019
31
New data in causes of autoinflammatory diseases. 61
30471422 2019
32
HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4. 61
31597739 2019
33
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 61
31053777 2019
34
TNF receptor signalling in autoinflammatory diseases. 61
30838383 2019
35
Dysregulation of immunoproteasomes in autoinflammatory syndromes. 61
30169676 2019
36
Targeting cytokines to treat autoinflammatory diseases. 61
30394352 2019
37
KIR3DL1/S1 Allotypes Contribute Differentially to the Development of Behçet Disease. 61
31405953 2019
38
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling. 61
29858171 2019
39
The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea. 61
31172726 2019
40
[Adult-onset Still's disease : Rare adult-onset autoinflammatory syndrome]. 61
30937478 2019
41
The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. 61
31777803 2019
42
MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants. 61
30974290 2019
43
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 61
30967326 2019
44
Total clavicle reconstruction with free peroneal graft for the surgical management of chronic nonbacterial osteomyelitis of the clavicle: a case report. 61
31084601 2019
45
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 61
30568124 2019
46
Familial Mediterranean fever: breaking all the (genetic) rules. 61
30476289 2019
47
OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death. 61
30804083 2019
48
Cutaneous polyarteritis nodosa in a 7-year-old boy: difficulties in diagnosis. 61
31844345 2019
49
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. 61
29451047 2019
50
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. 61
30858956 2019
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Variations for Autoinflammatory Syndrome

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ClinVar genetic disease variations for Autoinflammatory Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_022162.3(NOD2):c.2798+158C>TSNV Likely benign 4697 rs5743289 16:50756774-50756774 16:50722863-50722863
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Expression for Autoinflammatory Syndrome

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Search GEO for disease gene expression data for Autoinflammatory Syndrome.
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Pathways for Autoinflammatory Syndrome

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Pathways related to Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.49 TNFAIP3 PSMB8 PLCG2 NLRP3 NLRC4
2
Deubiquitination 65
Show member pathways
 12.33 TNFAIP3 PSMB8 NLRP3
3
Measles 36
Show member pathways
 12.29 TNFAIP3 PLCG2 NLRP3
4
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.18 NLRP3 NLRP12 NLRC4
5
NF-kappaB Signaling 4
12.01 TNFAIP3 PSMB8 PLCG2
6
Shigellosis 36
11.82 PLCG2 NLRP3 NLRC4
7
NF-kappa B signaling pathway 36
11.49 TNFAIP3 PLCG2
8
NF-kB(NFkB) Pathway 66
11.46 TNFAIP3 PLCG2
9
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 65
Show member pathways
 11.39 TNFAIP3 NLRP3 NLRC4
10
NOD-like receptor signaling pathway 36
11.18 TNFAIP3 NLRP3 NLRP12 NLRC4
11
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
10.74 NLRP3 NLRP12 NLRC4
Sources

GO Terms for Autoinflammatory Syndrome

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Biological processes related to Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.69 TNFAIP3 NLRP3 NLRC4
2 inflammatory response GO:0006954 9.65 TNFAIP3 NLRP3 NLRC4
3 protein deubiquitination GO:0016579 9.54 TNFAIP3 PSMB8 NLRP3
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.49 PSMB8 PLCG2
5 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.46 TNFAIP3 NLRP12
6 positive regulation of interleukin-1 beta secretion GO:0050718 9.43 NLRP3 NLRP12
7 negative regulation of inflammatory response GO:0050728 9.43 TNFAIP3 NLRP3 NLRP12
8 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.4 NLRP3 NLRP12
9 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.33 NLRP3 NLRP12 NLRC4
10 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.32 NLRP12 NLRC4
11 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.13 TNFAIP3 NLRP3 NLRP12
12 negative regulation of interleukin-1 beta secretion GO:0050713 8.8 TNFAIP3 NLRP3 NLRC4
Sources

Sources for Autoinflammatory Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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