MCID: ERD001
MIFTS: 58

Erdheim-Chester Disease

Categories: Rare diseases, Bone diseases, Skin diseases, Immune diseases

Aliases & Classifications for Erdheim-Chester Disease

MalaCards integrated aliases for Erdheim-Chester Disease:

Name: Erdheim-Chester Disease 12 53 25 59 44 15 73
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 53
Lipoid Granulomatosis 53
Lipid Granulomatosis 25
Ecd 53

Characteristics:

Orphanet epidemiological data:

59
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 53 Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.

MalaCards based summary : Erdheim-Chester Disease, also known as polyostotic sclerosing histiocytosis, is related to langerhans cell histiocytosis and histiocytosis. An important gene associated with Erdheim-Chester Disease is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Cetuximab and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are renal insufficiency and hydronephrosis

Genetics Home Reference : 25 Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.

Wikipedia : 76 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis)... more...

Related Diseases for Erdheim-Chester Disease

Diseases related to Erdheim-Chester Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 langerhans cell histiocytosis 31.4 BRAF NRAS
2 histiocytosis 31.2 BRAF SERPINA3
3 urinary tract obstruction 30.0 CCL2 PIK3CA
4 lipogranulomatosis 11.9
5 atrioventricular septal defect 11.7
6 split-hand/foot malformation 1 11.1
7 hemifacial atrophy, progressive 10.9
8 cerebritis 10.5
9 brain stem glioma 10.5 BRAF PIK3CA
10 acral lentiginous melanoma 10.5 BRAF NRAS
11 skin squamous cell carcinoma 10.4 BRAF PIK3CA
12 mucosal melanoma 10.4 BRAF NRAS
13 bladder squamous cell carcinoma 10.4 BRAF PIK3CA
14 nevus, epidermal 10.4 NRAS PIK3CA
15 acneiform dermatitis 10.4 NRAS PIK3CA
16 hemopericardium 10.4
17 pericardial effusion 10.4
18 non-langerhans-cell histiocytosis 10.4
19 anaplastic thyroid cancer 10.4 BRAF PIK3CA
20 interstitial lung disease 10.3
21 lung disease 10.3
22 diabetes insipidus 10.3
23 eosinophilic granuloma 10.3
24 secretory meningioma 10.3 PIK3CA SERPINA3
25 lymphoma 10.2
26 thyroiditis 10.2
27 exophthalmos 10.2
28 suppression of tumorigenicity 12 10.2 BRAF PIK3CA
29 diabetes mellitus 10.2
30 leukemia 10.2
31 pericarditis 10.2
32 vasculitis 10.2
33 igg4-related disease 10.2
34 purulent labyrinthitis 10.1 CCL2 IL1B
35 retinitis pigmentosa 73 10.1 CCL2 IL1B
36 stachybotrys chartarum 10.1 CCL2 IL1B
37 xanthogranulomatous pyelonephritis 10.1 CCL2 SERPINA3
38 extrapulmonary tuberculosis 10.0 CCL2 IL1B
39 dengue shock syndrome 10.0 CCL2 IL1B
40 extrinsic cardiomyopathy 10.0 CCL2 IL1B
41 viral encephalitis 10.0 CCL2 IL1B
42 hashimoto thyroiditis 10.0
43 multiple system atrophy 1 10.0
44 thrombophilia due to thrombin defect 10.0
45 thyroid cancer, nonmedullary, 1 10.0
46 polycythemia vera 10.0
47 dermatitis, atopic 10.0
48 aceruloplasminemia 10.0
49 leukemia, acute lymphoblastic 10.0
50 bone mineral density quantitative trait locus 15 10.0

Graphical network of the top 20 diseases related to Erdheim-Chester Disease:



Diseases related to Erdheim-Chester Disease

Symptoms & Phenotypes for Erdheim-Chester Disease

Human phenotypes related to Erdheim-Chester Disease:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
3 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
8 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
9 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
10 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
11 xanthelasma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001114
12 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
13 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
14 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
15 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
16 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
17 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
18 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
19 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
20 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
21 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
22 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
23 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
24 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
25 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
26 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
27 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
28 osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002754
29 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
30 retroperitoneal fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0005200
31 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
32 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530
33 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
34 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
35 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
36 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
37 dysuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0100518
38 abnormality of the cerebellum 59 Occasional (29-5%)
39 abnormality of the aortic valve 59 Frequent (79-30%)
40 low gonadotropins (secondary hypogonadism) 59 Very frequent (99-80%)
41 abnormality of immune system physiology 59 Occasional (29-5%)
42 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
43 abnormal aortic valve morphology 32 frequent (33%) HP:0001646

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 IL1B NRAS PIK3CA BRAF CCL2 CCR6
2 neoplasm MP:0002006 8.92 IL1B NRAS PIK3CA BRAF

Drugs & Therapeutics for Erdheim-Chester Disease

Drugs for Erdheim-Chester Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
4
Trametinib Approved Phase 2 871700-17-3 11707110
5
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
6 Angiogenesis Inhibitors Phase 2
7 Angiogenesis Modulating Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Immunosuppressive Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Mitogens Phase 2
12 Antioxidants Phase 2
13 Protective Agents Phase 2
14 Protein Kinase Inhibitors Phase 2
15
Choline Approved, Nutraceutical 62-49-7 305
16 Gastrointestinal Agents
17 Nootropic Agents
18 Hypolipidemic Agents
19 Lipid Regulating Agents
20 Antimetabolites

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
2 A Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
3 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
4 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
5 Registry for Patients With Erdheim-Chester Disease Recruiting NCT03329274
6 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
7 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
8 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
9 Biomarker for Farber Disease Recruiting NCT02298634
10 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
11 Farber Disease Natural History Study Recruiting NCT03233841
12 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Erdheim-Chester Disease

Cochrane evidence based reviews: erdheim-chester disease

Genetic Tests for Erdheim-Chester Disease

Anatomical Context for Erdheim-Chester Disease

MalaCards organs/tissues related to Erdheim-Chester Disease:

41
Bone, Skin, Brain, Lung, Pituitary, Bone Marrow, Breast

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 503)
# Title Authors Year
1
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge. ( 29888013 )
2018
2
Neuroradiologic manifestations of Erdheim-Chester disease. ( 29517068 )
2018
3
The Hairy Kidney of Erdheim-Chester Disease. ( 29728208 )
2018
4
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF<sup>V600E</sup> mutation. ( 29736852 )
2018
5
Intracranial Erdheim-Chester Disease Mimicking Parafalcine Meningioma: Report of Two Cases and Review of the Literature. ( 29191545 )
2018
6
The fibrogenic chemokine CCL18 is associated with disease severity in Erdheim-Chester disease. ( 29900045 )
2018
7
Efficacy of infliximab in the treatment of Erdheim-Chester disease. ( 29363511 )
2018
8
Prognostic factors of Erdheim-Chester Disease: A nationwide survey in Japan. ( 29976744 )
2018
9
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF<sup>V600E</sup> mutation. ( 29556768 )
2018
10
FDG PET/CT Findings of Erdheim-Chester Disease: Radiologic Response to a Novel Treatment Regimen. ( 29485431 )
2018
11
Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease. ( 29910817 )
2018
12
Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. ( 29396850 )
2018
13
Erdheim-chester disease: Case report with testes involvement and review of literature. ( 29686965 )
2018
14
Detection of anti-neutrophil cytoplasmic and antinuclear autoantibodies favouring misdiagnoses in 5 cases of Erdheim-Chester disease. ( 29652657 )
2018
15
Hypoalphalipoproteinemia and <i>BRAF</i><sup>V600E</sup> Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease. ( 29930009 )
2018
16
Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation. ( 29968698 )
2018
17
Erdheim-Chester Disease and Palatal Tremor. ( 29145922 )
2018
18
Cutaneous manifestations of paediatric Erdheim-Chester disease, a histiocytosis of the 'L' group. ( 29357606 )
2018
19
An autopsy case report: Differences in radiological images correlate with histology in Erdheim-Chester disease. ( 29603831 )
2018
20
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. ( 29204962 )
2018
21
Erdheim-Chester disease: description of two illustrative cases involving the lung. ( 29469219 )
2018
22
Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement. ( 29854671 )
2018
23
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report. ( 29281781 )
2017
24
Clinical and radiological responses to oral methotrexate alone or in combination with other agents in Erdheim-Chester disease. ( 29242623 )
2017
25
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
26
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
27
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
28
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
29
Erdheim-Chester disease presenting as bradycardia in an elderly man. ( 28620105 )
2017
30
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. ( 29192649 )
2017
31
Case 245: Erdheim-Chester Disease. ( 28825890 )
2017
32
Erdheim-Chester Disease Presenting with Secondary Hypertension as a Result of Bilateral, Proximal Renal Artery Stenosis: A Case Report. ( 28612007 )
2017
33
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. ( 28455460 )
2017
34
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. ( 28222655 )
2017
35
Spinal epidural involvement in Erdheim-Chester disease: (18)F-FDG PET/CT findings. ( 28610870 )
2017
36
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. ( 28099231 )
2017
37
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. ( 28512190 )
2017
38
18F-FDG PET/CT in Erdheim-Chester disease. ( 28364162 )
2017
39
An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease. ( 28739622 )
2017
40
Association between Ischemic Stroke and Erdheim-Chester Disease: A Case Report and Review of Literature. ( 28623120 )
2017
41
Complementary findings on (18)F-FDG PET/CT and (18)F-NaF PET/CT in a patient with Erdheim-Chester disease. ( 28670036 )
2017
42
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. ( 28080175 )
2017
43
A rare case of Erdheim-Chester disease in the breast. ( 28151461 )
2017
44
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. ( 28182116 )
2017
45
The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging. ( 28217025 )
2017
46
Erdheim-Chester Disease with atrial mass and perinephric calcification. ( 29225878 )
2017
47
Successful Lung Transplantation for Pulmonary Disease Associated With Erdheim-Chester Disease. ( 28633251 )
2017
48
Spontaneous Bilateral Pneumothoraces in Erdheim-Chester Disease. ( 29132763 )
2017
49
Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement. ( 28607780 )
2017
50
Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. ( 29188284 )
2017

Variations for Erdheim-Chester Disease

Expression for Erdheim-Chester Disease

Search GEO for disease gene expression data for Erdheim-Chester Disease.

Pathways for Erdheim-Chester Disease

Pathways related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 BRAF CCL2 CCR6 IL1B NRAS PIK3CA
2
Show member pathways
13.43 BRAF CCL2 CCR6 IL1B NRAS
3
Show member pathways
13.11 BRAF CCL2 CCR6 NRAS PIK3CA
4
Show member pathways
13.03 BRAF CCL2 IL1B NRAS PIK3CA
5
Show member pathways
12.47 BRAF IL1B NRAS
6 12.43 BRAF NRAS PIK3CA
7
Show member pathways
12.36 BRAF NRAS PIK3CA
8
Show member pathways
12.34 BRAF NRAS PIK3CA
9
Show member pathways
12.32 BRAF NRAS PIK3CA
10
Show member pathways
12.31 BRAF CCL2 CCR6 NRAS PIK3CA
11
Show member pathways
12.3 BRAF NRAS PIK3CA
12
Show member pathways
12.29 IL1B NRAS PIK3CA
13
Show member pathways
12.28 BRAF NRAS PIK3CA
14
Show member pathways
12.25 IL1B NRAS PIK3CA
15
Show member pathways
12.23 IL1B NRAS PIK3CA
16
Show member pathways
12.2 BRAF CCL2 PIK3CA
17
Show member pathways
12.18 BRAF NRAS PIK3CA
18
Show member pathways
12.13 CCL2 IL1B SERPINA3
19
Show member pathways
12.1 CCL2 IL1B PIK3CA
20
Show member pathways
12.09 CCL2 IL1B NRAS PIK3CA
21 12.08 BRAF NRAS PIK3CA
22
Show member pathways
12.06 BRAF NRAS PIK3CA
23
Show member pathways
11.98 IL1B NRAS PIK3CA
24
Show member pathways
11.97 BRAF CCL2 NRAS
25
Show member pathways
11.94 BRAF NRAS PIK3CA
26 11.83 CCL2 IL1B PIK3CA
27
Show member pathways
11.81 BRAF NRAS PIK3CA
28 11.77 BRAF NRAS PIK3CA
29
Show member pathways
11.73 BRAF IL1B PIK3CA
30
Show member pathways
11.68 CCL2 IL1B NRAS PIK3CA
31 11.64 CCL2 IL1B PIK3CA
32 11.52 NRAS PIK3CA
33
Show member pathways
11.52 BRAF NRAS
34 11.5 CCL2 IL1B
35 11.48 BRAF NRAS
36 11.42 BRAF PIK3CA
37
Show member pathways
11.42 BRAF NRAS PIK3CA
38 11.37 CCL2 IL1B
39 11.37 CCL2 IL1B
40 11.36 CCL2 IL1B
41 11.29 BRAF NRAS
42 11.18 BRAF NRAS
43 11.11 NRAS PIK3CA
44 11.05 BRAF PIK3CA
45 10.96 BRAF PIK3CA
46 10.92 CCL2 IL1B NRAS PIK3CA
47 10.86 CCL2 SERPINA3
48 10.75 CCL2 IL1B
49 10.53 CCL2 IL1B PIK3CA

GO Terms for Erdheim-Chester Disease

Cellular components related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.02 BRAF CCL2 CCR6 PIK3CA SERPINA3

Biological processes related to Erdheim-Chester Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.88 BRAF CCL2 CCR6 IL1B NRAS
2 cytokine-mediated signaling pathway GO:0019221 9.63 CCL2 IL1B PIK3CA
3 inflammatory response GO:0006954 9.56 CCL2 IL1B PIK3CA SERPINA3
4 leukocyte migration GO:0050900 9.54 IL1B NRAS PIK3CA
5 epidermal growth factor receptor signaling pathway GO:0007173 9.51 NRAS PIK3CA
6 negative regulation of neuron apoptotic process GO:0043524 9.5 BRAF CCL2 PIK3CA
7 humoral immune response GO:0006959 9.49 CCL2 CCR6
8 ERBB2 signaling pathway GO:0038128 9.43 NRAS PIK3CA
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.4 CCL2 IL1B
10 cell chemotaxis GO:0060326 9.33 CCL2 CCR6 PIK3CA
11 MAPK cascade GO:0000165 9.26 BRAF CCL2 IL1B NRAS
12 protein kinase B signaling GO:0043491 8.8 CCL2 IL1B PIK3CA

Sources for Erdheim-Chester Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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