MCID: PDT035
MIFTS: 46

Pediatric Systemic Lupus Erythematosus

Categories: Bone diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pediatric Systemic Lupus Erythematosus

MalaCards integrated aliases for Pediatric Systemic Lupus Erythematosus:

Name: Pediatric Systemic Lupus Erythematosus 58
Sle, Pediatric Onset 58

Characteristics:

Orphanet epidemiological data:

58
pediatric systemic lupus erythematosus
Prevalence: 1-9/1000000 (Australia);

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Pediatric Systemic Lupus Erythematosus

MalaCards based summary : Pediatric Systemic Lupus Erythematosus, also known as sle, pediatric onset, is related to lupus erythematosus and hemolytic uremic syndrome, atypical 1. An important gene associated with Pediatric Systemic Lupus Erythematosus is IRAK1 (Interleukin 1 Receptor Associated Kinase 1), and among its related pathways/superpathways are Innate Immune System and IL-2 Pathway. The drugs Vitamin D and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include b cells, neutrophil and bone marrow, and related phenotypes are elevated erythrocyte sedimentation rate and decreased serum complement c3

Related Diseases for Pediatric Systemic Lupus Erythematosus

Diseases related to Pediatric Systemic Lupus Erythematosus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 30.7 STAT4 PTPN22 MX1 HMGB1 C4B C4A
2 hemolytic uremic syndrome, atypical 1 30.2 C4B C4A C3
3 peripheral nervous system disease 29.9 MYC MIR27A MIR17 MDM2
4 glomerulonephritis 29.9 SPP1 C4B C4A C3
5 autoimmune disease 29.3 TNFSF13B STAT4 SPP1 PTPN22 KLRK1 C4A
6 systemic lupus erythematosus 28.9 TNFSF13B STAT4 SPP1 PTPN22 MX1 IRAK1
7 diabetes mellitus 28.3 SPP1 PTPN22 PIK3CD MIR27A MIR17 HMGB1
8 exanthem 10.5
9 proteinuria, chronic benign 10.5
10 thrombocytopenia 10.4
11 purpura 10.4
12 hemolytic anemia 10.4
13 pericarditis 10.4
14 enthesopathy 10.4
15 juvenile rheumatoid arthritis 10.4
16 vasculitis 10.4
17 neutropenia 10.3
18 antiphospholipid syndrome 10.3
19 juvenile dermatitis herpetiformis 10.3 C4B C4A
20 immunodeficiency due to a classical component pathway complement deficiency 10.3 C4B C4A
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
22 chorea, childhood-onset, with psychomotor retardation 10.3
23 choreatic disease 10.3
24 acute pancreatitis 10.3
25 central nervous system disease 10.3
26 pancreatitis 10.3
27 myocarditis 10.3
28 nervous system disease 10.3
29 neuropathy 10.3
30 meningitis 10.3
31 avascular necrosis 10.3
32 louse-borne relapsing fever 10.2 C4B C4A C3
33 relapsing fever 10.2 C4B C4A C3
34 tick-borne relapsing fever 10.2 C4B C4A C3
35 complement factor i deficiency 10.2 C4B C4A C3
36 complement component 3 deficiency 10.2 C4B C4A C3
37 complement component 5 deficiency 10.2 C4B C4A C3
38 hypersensitivity vasculitis 10.2 C4B C4A C3
39 hypersensitivity reaction type iii disease 10.2 C4B C4A C3
40 epilepsy, idiopathic generalized 3 10.2 MYC E2F1
41 complement deficiency 10.2 C4B C4A C3
42 atherosclerosis susceptibility 10.2
43 myositis 10.2
44 thrombocytopenic purpura, autoimmune 10.2
45 acrocallosal syndrome 10.2
46 anemia, autoimmune hemolytic 10.2
47 c1q deficiency 10.2
48 cryptococcal meningitis 10.2
49 rickets 10.2
50 hemopericardium 10.2

Graphical network of the top 20 diseases related to Pediatric Systemic Lupus Erythematosus:



Diseases related to Pediatric Systemic Lupus Erythematosus

Symptoms & Phenotypes for Pediatric Systemic Lupus Erythematosus

Human phenotypes related to Pediatric Systemic Lupus Erythematosus:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
2 decreased serum complement c3 58 31 hallmark (90%) Very frequent (99-80%) HP:0005421
3 decreased serum complement c4 58 31 hallmark (90%) Very frequent (99-80%) HP:0045042
4 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
5 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
6 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
7 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
8 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
9 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
10 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
11 abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0011024
12 pleural effusion 58 31 frequent (33%) Frequent (79-30%) HP:0002202
13 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
14 pericardial effusion 58 31 frequent (33%) Frequent (79-30%) HP:0001698
15 antiphospholipid antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0003613
16 antinuclear antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0003493
17 nephritis 58 31 frequent (33%) Frequent (79-30%) HP:0000123
18 microangiopathic hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001937
19 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
20 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
21 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
22 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
23 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
24 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
25 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
26 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
27 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
28 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
29 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
30 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
31 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
32 oral ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0000155
33 systemic lupus erythematosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002725
34 dark urine 58 31 occasional (7.5%) Occasional (29-5%) HP:0040319
35 malar rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0025300
36 lupus anticoagulant 58 31 occasional (7.5%) Occasional (29-5%) HP:0025343
37 discoid lupus rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0007417
38 seizure 31 occasional (7.5%) HP:0001250
39 cognitive impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0100543
40 alopecia 58 31 very rare (1%) Very rare (<4-1%) HP:0001596
41 chest pain 58 31 very rare (1%) Very rare (<4-1%) HP:0100749
42 diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0002014
43 myositis 58 31 very rare (1%) Very rare (<4-1%) HP:0100614
44 raynaud phenomenon 58 31 very rare (1%) Very rare (<4-1%) HP:0030880
45 language impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002463
46 antineutrophil antibody positivity 58 31 very rare (1%) Very rare (<4-1%) HP:0003453
47 seizures 58 Occasional (29-5%)
48 abnormality of the urinary system 58 Frequent (79-30%)
49 skin rash 58 Frequent (79-30%)
50 abnormality of the nervous system 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Pediatric Systemic Lupus Erythematosus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ADIPOQ C3 C4B E2F1 IRAK1 MDM2
2 hematopoietic system MP:0005397 10.1 ADIPOQ C3 C4B E2F1 IRAK1 MDM2
3 immune system MP:0005387 10.03 ADIPOQ C3 C4B E2F1 IRAK1 MDM2
4 digestive/alimentary MP:0005381 9.91 C3 C4B E2F1 MDM2 MYC PIK3CD
5 liver/biliary system MP:0005370 9.7 ADIPOQ C3 C4B MDM2 MYC PTPN22
6 muscle MP:0005369 9.5 ADIPOQ C3 E2F1 IRAK1 MDM2 MYC
7 renal/urinary system MP:0005367 9.17 ADIPOQ C3 C4B MDM2 PTPN22 SPP1

Drugs & Therapeutics for Pediatric Systemic Lupus Erythematosus

Drugs for Pediatric Systemic Lupus Erythematosus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
2
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
3
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
4 Nutrients Phase 2
5 Trace Elements Phase 2
6 Vitamins Phase 2
7 Vitamin D2 Phase 2
8 Ergocalciferols Phase 2
9 Micronutrients Phase 2
10 Interferon-alpha Phase 2
11 Calciferol Phase 2
12 Hormones Phase 2
13 Calcium, Dietary Phase 2
14
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D3 Effects on Immune Function in Pediatric Systemic Lupus Erythematosus (SLE) Terminated NCT01709474 Phase 2 Vitamin D3 6000 IU;Vitamin D3 400 IU

Search NIH Clinical Center for Pediatric Systemic Lupus Erythematosus

Genetic Tests for Pediatric Systemic Lupus Erythematosus

Anatomical Context for Pediatric Systemic Lupus Erythematosus

MalaCards organs/tissues related to Pediatric Systemic Lupus Erythematosus:

40
B Cells, Neutrophil, Bone Marrow, Spinal Cord, T Cells

Publications for Pediatric Systemic Lupus Erythematosus

Articles related to Pediatric Systemic Lupus Erythematosus:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Pediatric systemic lupus erythematosus with lupus anticoagulant hypoprothrombinemia syndrome-A case series with review of literature. 61
33509039 2021
2
Shrinking lung syndrome treated with rituximab in pediatric systemic lupus erythematosus: a case report and review of the literature. 61
33407629 2021
3
Atypical Presentation of Pediatric Systemic Lupus Erythematosus Complicated by Cryptococcal Meningitis. 61
33628263 2021
4
Autoimmune thyroid diseases, autoimmune hepatitis, celiac disease and type 1 diabetes mellitus in pediatric systemic lupus erythematosus: Results from the CARRA Legacy Registry. 61
33016198 2020
5
SIGLEC1 (CD169) is a sensitive biomarker for the deterioration of the clinical course in childhood systemic lupus erythematosus. 61
33081587 2020
6
Validation of the 2019 European League Against Rheumatism/American College of Rheumatology Criteria Compared to the 1997 American College of Rheumatology Criteria and the 2012 Systemic Lupus International Collaborating Clinics Criteria in Pediatric Systemic Lupus Erythematosus. 61
31478595 2020
7
The Performances of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 Classification Criteria in Pediatric Systemic Lupus Erythematosus. 61
33191281 2020
8
Performance and psychometric properties of lupus impact tracker in assessing patient-reported outcomes in pediatric lupus: Report from a pilot study. 61
32838619 2020
9
The role of 5-methoxytryptophan in pediatric-onset lupus nephritis: A retrospective cohort study. 61
30630711 2020
10
Update on Outcome Measures for Pediatric Systemic Lupus Erythematosus. 61
33091272 2020
11
The status of FOXP3 gene methylation in pediatric systemic lupus erythematosus. 61
32475613 2020
12
Urticarial vasculitis in pediatric systemic lupus erythematosus. 61
32372441 2020
13
Acute pancreatitis and macrophage activation syndrome in pediatric systemic lupus erythematosus: case-based review. 61
31377830 2020
14
Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation. 61
32443356 2020
15
Hydroxychloroquine in Patients with Rheumatic Disease Complicated by COVID-19: Clarifying Target Exposures and the Need for Clinical Trials. 61
32393664 2020
16
PTPN22 Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus. 61
31232672 2020
17
Lupus Mesenteric Vasculitis: A Rare Initial Presentation of Pediatric Systemic Lupus Erythematosus. 61
32028306 2020
18
Management of Pediatric Systemic Lupus Erythematosus: Focus on Belimumab. 61
32612353 2020
19
Pediatric systemic lupus erythematosus patients in South Africa have high prevalence and severity of cardiac and vascular manifestations. 61
31771606 2019
20
The behavior of neutrophil extracellular traps and NADPH oxidative activity in pediatric systemic lupus erythematosus: relation to disease activity and lupus nephritis. 61
31030361 2019
21
Diagnostic value of serum high-mobility group box-1 in pediatric systemic lupus erythematosus. 61
30938057 2019
22
Rituximab-associated Hypogammaglobulinemia in pediatric patients with autoimmune diseases. 61
31462263 2019
23
Clinical manifestations, immunological features and prognosis of Chinese pediatric systemic lupus erythematosus: A single-center study. 61
30957986 2019
24
A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report. 61
31045771 2019
25
Incidence and risk factors of osteomyelitis in adult and pediatric systemic lupus erythematosus: a nationwide, population-based cohort study. 61
30458691 2019
26
Unique Characteristics of Prepubertal Onset Systemic Lupus Erythematosus. 61
31263503 2019
27
Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus. 61
29739689 2018
28
Pediatric systemic lupus erythematosus. Retrospective analysis of clinico-laboratory parameters and their association with systemic lupus erythematosus disease activity index score. 61
30284593 2018
29
Pediatric systemic lupus erythematosus. Retrospective analysis of clinico-laboratory parameters and their association with Systemic Lupus Erythematosus Disease Activity Index score. 61
29915860 2018
30
Serum IP-10 is useful for identifying renal and overall disease activity in pediatric systemic lupus erythematosus. 61
29264699 2018
31
DNA induction of MDM2 promotes proliferation of human renal mesangial cells and alters peripheral B cells subsets in pediatric systemic lupus erythematosus. 61
29324237 2018
32
Insights Gained From the Study of Pediatric Systemic Lupus Erythematosus. 61
29922296 2018
33
Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood. 61
29868531 2018
34
Unraveling the expression of microRNA-27a* & NKG2D in peripheral blood mononuclear cells and natural killer cells of pediatric systemic lupus erythematosus patients. 61
28523761 2017
35
Efficacy and Safety of Rituximab in the Management of Pediatric Systemic Lupus Erythematosus: A Systematic Review. 61
28602379 2017
36
Carotid intima-media thickness and arterial stiffness in pediatric systemic lupus erythematosus. 61
28420050 2017
37
Reduction of CD19 autoimmunity marker on B cells of paediatric SLE patients through repressing PU.1/TNF-α/BAFF axis pathway by miR-155. 61
28683581 2017
38
Lenalidomide for refractory cutaneous manifestations of pediatric systemic lupus erythematosus. 61
27837194 2017
39
Clinical characteristics of children with membranous lupus nephritis: the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. 61
27510603 2017
40
Severe disease presentation and poor outcomes among pediatric systemic lupus erythematosus patients in South Africa. 61
27488473 2017
41
An Update on Treatment and Management of Pediatric Systemic Lupus Erythematosus. 61
27747587 2016
42
Targeted B cell therapies in the treatment of adult and pediatric systemic lupus erythematosus. 61
27497253 2016
43
Acute pancreatitis as a cause of mortality in pediatric systemic lupus erythematosus: Results of a multiple cause-of-death analysis in France. 61
27079760 2016
44
Alcohol, smoking and illicit drug use in pediatric systemic lupus erythematosus patients. 61
27267641 2016
45
Comorbidities of pediatric systemic lupus erythematosus: A 6-year nationwide population-based study. 61
25066707 2016
46
Idiopathic Thrombocytopenic Purpura Masquerading Pediatric Systemic Lupus Erythematosus. 61
27057049 2016
47
Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis. 61
26515887 2016
48
Incidence and prognosis of systemic lupus erythematosus in a 35 year period in Fukushima, Japan. 61
25615939 2015
49
Pediatric systemic lupus erythematosus presenting with coronary arteritis: A case series and review of the literature. 61
25840624 2015
50
Cytomegalovirus in pediatric systemic lupus erythematosus: prevalence and clinical manifestations. 61
25568145 2015

Variations for Pediatric Systemic Lupus Erythematosus

Expression for Pediatric Systemic Lupus Erythematosus

Search GEO for disease gene expression data for Pediatric Systemic Lupus Erythematosus.

Pathways for Pediatric Systemic Lupus Erythematosus

Pathways related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 TNFSF13B PTPN22 PIK3CD MYC MX1 MDM2
2
Show member pathways
13.08 STAT4 SPP1 MYC IRAK1 HMGB1 E2F1
3
Show member pathways
12.82 SPP1 PIK3CD MYC MX1 MDM2 E2F1
4
Show member pathways
12.73 PIK3CD MYC MDM2 IRAK1 E2F1 C3
5 12.68 STAT4 PIK3CD MYC MDM2 E2F1
6
Show member pathways
12.56 PIK3CD MYC MX1 MDM2 IRAK1 E2F1
7
Show member pathways
12.55 STAT4 SPP1 PIK3CD MYC MX1 IRAK1
8 12.42 TNFSF13B STAT4 PTPN22 IRAK1
9
Show member pathways
12.22 MYC MIR17 MDM2 E2F1
10
Show member pathways
12.08 PIK3CD MYC MDM2 E2F1
11 11.97 PIK3CD MYC MDM2 E2F1
12 11.88 PIK3CD MYC MDM2
13 11.87 TNFSF13B MYC E2F1
14 11.81 MYC MDM2 E2F1
15 11.79 PIK3CD MYC MDM2 HMGB1
16 11.74 C4B C4A C3
17 11.72 PIK3CD MYC E2F1
18
Show member pathways
11.65 C4B C4A C3
19 11.59 PIK3CD MYC MIR27A MIR17 MDM2 E2F1
20 11.58 MYC MDM2 E2F1
21 11.5 MYC MDM2 HMGB1 E2F1
22 11.4 MYC MIR27A E2F1
23 11.34 IRAK1 C4B C4A C3
24 11.33 MYC MDM2 E2F1
25 10.84 MYC MDM2 E2F1

GO Terms for Pediatric Systemic Lupus Erythematosus

Cellular components related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.43 MYC MDM2 IRAK1 E2F1 C3 ADIPOQ
2 extracellular space GO:0005615 9.28 TNFSF13B SPP1 MIR27A MIR17 HMGB1 C4B

Biological processes related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.07 TNFSF13B STAT4 SPP1 PIK3CD MX1 KLRK1
2 positive regulation of gene expression GO:0010628 9.92 PTPN22 PIK3CD MYC MDM2 E2F1
3 cytokine-mediated signaling pathway GO:0019221 9.87 STAT4 PIK3CD MYC IRAK1
4 negative regulation of gene expression GO:0010629 9.8 PTPN22 PIK3CD MIR27A MIR17 MDM2
5 inflammatory response GO:0006954 9.8 SPP1 PIK3CD HMGB1 C4B C4A C3
6 regulation of complement activation GO:0030449 9.76 C4B C4A C3
7 complement activation GO:0006956 9.72 C4B C4A C3
8 negative regulation of fat cell differentiation GO:0045599 9.67 MIR27A E2F1 ADIPOQ
9 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.65 MIR27A MIR17 MDM2
10 cellular response to hypoxia GO:0071456 9.65 MYC MIR17 MDM2 IRAK1 E2F1
11 positive regulation of fibroblast proliferation GO:0048146 9.61 MYC MIR17 E2F1
12 negative regulation of T cell activation GO:0050868 9.59 PTPN22 MIR27A
13 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.58 MIR27A MIR17
14 positive regulation of monocyte chemotactic protein-1 production GO:0071639 9.56 HMGB1 ADIPOQ
15 innate immune response GO:0045087 9.56 PIK3CD MX1 KLRK1 IRAK1 HMGB1 C4B
16 positive regulation of toll-like receptor 4 signaling pathway GO:0034145 9.54 PTPN22 HMGB1
17 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.51 MIR27A ADIPOQ
18 positive regulation of toll-like receptor 9 signaling pathway GO:0034165 9.46 PTPN22 HMGB1
19 positive regulation of apoptotic cell clearance GO:2000427 9.33 C4B C4A C3
20 immune system process GO:0002376 9.32 TNFSF13B PTPN22 PIK3CD MX1 KLRK1 IRAK1

Molecular functions related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 TNFSF13B SPP1 HMGB1 ADIPOQ
2 endopeptidase inhibitor activity GO:0004866 8.8 C4B C4A C3

Sources for Pediatric Systemic Lupus Erythematosus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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