MCID: ERD001
MIFTS: 54

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 50 25 56 42 14 69
Polyostotic Sclerosing Histiocytosis 25
Erdheim Chester Disease 50
Lipoid Granulomatosis 50
Lipid Granulomatosis 25
Ecd 50

Characteristics:

Orphanet epidemiological data:

56
erdheim-chester disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Erdheim-Chester Disease

NIH Rare Diseases : 50 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. last updated: 3/2/2010

MalaCards based summary : Erdheim-Chester Disease, also known as polyostotic sclerosing histiocytosis, is related to choroiditis and hemifacial atrophy, progressive, and has symptoms including renal insufficiency, hydronephrosis and visual impairment. 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 Lenalidomide and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are immune system and neoplasm

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 : 72 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 100)
id Related Disease Score Top Affiliating Genes
1 choroiditis 29.8 CCL2 IL1B
2 hemifacial atrophy, progressive 10.9
3 atrioventricular septal defect 10.8
4 histiocytosis 10.7
5 tibia absent polydactyly arachnoid cyst 10.5 BRAF PIK3CA
6 raf1-related noonan syndrome 10.4 BRAF NRAS
7 cerebritis 10.4
8 epidermal nevus, somatic 10.4 NRAS PIK3CA
9 parotid gland adenoid cystic carcinoma 10.4 BRAF NRAS
10 occupational dermatitis 10.4 NRAS PIK3CA
11 uniparental disomy of chromosome 11 10.3 PIK3CA SERPINA3
12 pericardial effusion 10.3
13 microcystic meningioma 10.3 PIK3CA SERPINA3
14 interstitial lung disease 10.2
15 non-langerhans-cell histiocytosis 10.2
16 lung disease 10.2
17 diabetes insipidus 10.2
18 eosinophilic granuloma 10.2
19 thyroiditis 10.2
20 exophthalmos 10.2
21 interval angle-closure glaucoma 10.1 CCL2 IL1B
22 mental retardation, autosomal dominant 32 10.1 CCL2 IL1B
23 stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 10.1 CCL2 IL1B
24 alternating exotropia 10.1 CCL2 SERPINA3
25 hepatitis 10.1
26 leukemia 10.1
27 lymphoma 10.1
28 pericarditis 10.1
29 vasculitis 10.1
30 igg4-related disease 10.1
31 ataxia 10.1
32 ovarian mucinous adenofibroma 10.0 CCL2 IL1B
33 chronic inflammatory demyelinating polyradiculoneuropathy 10.0 CCL2 PIK3CA
34 high pressure neurological syndrome 10.0 CCL2 IL1B
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.0 BRAF NRAS PIK3CA
36 ostertagiasis 10.0 CCL2 IL1B
37 askin's tumor 10.0 CCL2 IL1B
38 osmotic diarrhea 10.0 CCL2 IL1B
39 atrophy of prostate 10.0 CCL2 IL1B
40 peritoneal mesothelioma 10.0 BRAF NRAS PIK3CA
41 dermatitis herpetiformis, familial 10.0 CCL2 SERPINA3
42 status epilepticus 9.9 CCL2 IL1B
43 hashimoto thyroiditis 9.9
44 cerebellar ataxia 9.9
45 multiple system atrophy 9.9
46 acute lymphocytic leukemia 9.9
47 atherosclerosis 9.9
48 end stage renal failure 9.9
49 hematopoietic stem cell transplantation 9.9
50 hemophagocytic lymphohistiocytosis 9.9

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:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 hydronephrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000126
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 proptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000520
6 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 diabetes insipidus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000873
8 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
9 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
10 xanthelasma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001114
11 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
12 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
13 hyperreflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001347
14 joint swelling 56 32 frequent (33%) Frequent (79-30%) HP:0001386
15 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
16 abnormality of the aortic valve 56 32 frequent (33%) Frequent (79-30%) HP:0001646
17 abnormality of the pericardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0001697
18 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
19 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
20 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
21 polydipsia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001959
22 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
23 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
24 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
25 pleural effusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0002202
26 pulmonary fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002206
27 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
28 osteomyelitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002754
29 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797
30 retroperitoneal fibrosis 56 32 frequent (33%) Frequent (79-30%) HP:0005200
31 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
32 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
33 increased bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0011001
34 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
35 cough 56 32 occasional (7.5%) Occasional (29-5%) HP:0012735
36 dysuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0100518
37 abnormality of the metaphyses 56 Very frequent (99-80%)
38 abnormality of the cerebellum 56 Occasional (29-5%)
39 low gonadotropins (secondary hypogonadism) 56 Very frequent (99-80%)
40 interstitial pulmonary disease 56 Occasional (29-5%)
41 abnormality of immune system physiology 56 Occasional (29-5%)
42 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044
43 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
44 interstitial pulmonary abnormality 32 occasional (7.5%) HP:0006530

MGI Mouse Phenotypes related to Erdheim-Chester Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 PIK3CA BRAF CCL2 CCR6 IL1B NRAS
2 neoplasm MP:0002006 8.92 BRAF IL1B NRAS PIK3CA

Drugs & Therapeutics for Erdheim-Chester Disease

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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study of Lenalidomide for Adult Histiocyte Disorders Recruiting NCT02523040 Phase 2 Lenalidomide
2 Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Suspended NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
3 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
4 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Recruiting NCT02089724
5 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
6 A Study of Memory, Thinking, and Brain Imaging in Adults With Histiocytosis Recruiting NCT03127709
7 Biomarker for Farber Disease Recruiting NCT02298634
8 Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Recruiting NCT02608619
9 Farber Disease Natural History Study Recruiting NCT03233841
10 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:

39
Bone, Skin, Brain, Lung, Pituitary, Bone Marrow, Breast

Publications for Erdheim-Chester Disease

Articles related to Erdheim-Chester Disease:

(show top 50) (show all 465)
id Title Authors Year
1
Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. ( 28253394 )
2017
2
Hematopoietic origin of Langerhans cell histiocytosis and Erdheim Chester disease in adults. ( 28512190 )
2017
3
An unusual thoracic localizations of Erdheim- Chester disease: A case report. ( 28149747 )
2017
4
18F-FDG PET/CT in Erdheim-Chester disease. ( 28364162 )
2017
5
Langerhans cell histiocytosis and Erdheim-Chester disease overlap syndrome with bone marrow involvement and type 2 diabetes mellitus. ( 28889238 )
2017
6
Pediatric Erdheim-Chester disease with aggressive skin manifestations. ( 28078666 )
2017
7
A cytologic diagnosis of BRAF(V600E) Erdheim-Chester disease on pericardial fluid. ( 28222655 )
2017
8
Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). ( 28667012 )
2017
9
Erdheim-Chester disease: the "targeted" revolution. ( 28912295 )
2017
10
Effective BRAF inhibitor vemurafenib therapy in a 2-year-old patient with sequentially diagnosed Langerhans cell histiocytosis and Erdheim-Chester disease. ( 28182116 )
2017
11
Erdheim-Chester disease, moving away from the orphan diseases: A case report. ( 27995058 )
2017
12
Combination of adalimumab with lower dose of methylprednisolone in Erdheim-Chester disease with systemic involvement. ( 28080175 )
2017
13
Erdheim-Chester disease with isolated skeletal involvement in patient with odontalgia. ( 28473220 )
2017
14
A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement. ( 28798943 )
2017
15
Case 245: Erdheim-Chester Disease. ( 28825890 )
2017
16
Misdiagnosis: CNS Erdheim-Chester disease mimicking CLIPPERS. ( 28685649 )
2017
17
Neurological manifestation of Erdheim Chester disease: A series of 3 patients. ( 28290409 )
2017
18
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. ( 28418177 )
2017
19
Erdheim-Chester Disease Presenting with Secondary Hypertension as a Result of Bilateral, Proximal Renal Artery Stenosis: A Case Report. ( 28612007 )
2017
20
Erdheim-Chester Disease: The Importance of Information Integration. ( 28868020 )
2017
21
Erdheim-Chester disease presenting as bradycardia in an elderly man. ( 28620105 )
2017
22
An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease. ( 28739622 )
2017
23
Erdheim-Chester Disease presenting with histiocytic colitis and cytokine storm. ( 28617889 )
2017
24
Spinal epidural involvement in Erdheim-Chester disease: (18)F-FDG PET/CT findings. ( 28610870 )
2017
25
A rare case of Erdheim-Chester disease in the breast. ( 28151461 )
2017
26
Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. ( 28099231 )
2017
27
Efficacy of intermediate-dose cytarabine in central nervous system-relapsed wild-type BRAF Erdheim-Chester disease. ( 28831599 )
2017
28
Association between Ischemic Stroke and Erdheim-Chester Disease: A Case Report and Review of Literature. ( 28623120 )
2017
29
Successful Lung Transplantation for Pulmonary Disease Associated With Erdheim-Chester Disease. ( 28633251 )
2017
30
Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature. ( 28690524 )
2017
31
Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity. ( 28153505 )
2017
32
Complementary findings on (18)F-FDG PET/CT and (18)F-NaF PET/CT in a patient with Erdheim-Chester disease. ( 28670036 )
2017
33
The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging. ( 28217025 )
2017
34
Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement. ( 28607780 )
2017
35
Erdheim-Chester disease associated with a novel, complex BRAF p.Thr599_Val600delinsArgGlu mutation. ( 28455460 )
2017
36
Tocilizumab in patients with multisystem Erdheim-Chester disease. ( 28680751 )
2017
37
BRAF Mutations in Erdheim-Chester Disease. ( 26617365 )
2016
38
Histopathological and Clinical Findings in Cutaneous Manifestation of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome Associated With the BRAFV600E Mutation. ( 27898473 )
2016
39
Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. ( 27759649 )
2016
40
Erdheim-Chester disease: 25-year history with early CNS involvement. ( 27702933 )
2016
41
Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis. ( 26964390 )
2016
42
Erdheim-Chester Disease With Multiorgan Involvement, Following Polycythemia Vera: A Case Report. ( 27196481 )
2016
43
Erdheim-Chester Disease: An Unusual Cause of Intracranial Vasculitis and Progressive Leukoencephalopathy. ( 26996751 )
2016
44
Erdheim Chester disease: A rare obstructive case of acute renal failure. ( 27597297 )
2016
45
Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. ( 27296272 )
2016
46
Erdheim-Chester Disease: A Rare Presentation of a Rare Disease. ( 27606325 )
2016
47
Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review. ( 27322549 )
2016
48
Efficacy of zoledronic acid in Erdheim-Chester disease: A case report. ( 26987264 )
2016
49
Superior efficacy and tolerance of reduced doses of vemurafenib plus anakinra in Erdheim-Chester disease: Towards the paradigm of combined targeting and immune therapies. ( 27031008 )
2016
50
A Unique Case of Erdheim-Chester Disease With Cervical and Lumbosacral Nerve Involvement: FDG PET/CT Finding. ( 27607166 )
2016

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 46)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 BRAF CCL2 CCR6 IL1B NRAS PIK3CA
2
Show member pathways
13.41 BRAF CCL2 CCR6 IL1B NRAS
3
Show member pathways
13.28 BRAF CCL2 IL1B NRAS PIK3CA
4
Show member pathways
13.1 BRAF CCL2 CCR6 NRAS PIK3CA
5
Show member pathways
13.03 BRAF CCL2 IL1B NRAS PIK3CA
6
Show member pathways
12.46 BRAF IL1B NRAS
7 12.43 BRAF NRAS PIK3CA
8
Show member pathways
12.39 BRAF NRAS PIK3CA
9
Show member pathways
12.32 BRAF NRAS PIK3CA
10
Show member pathways
12.31 BRAF NRAS PIK3CA
11
Show member pathways
12.31 BRAF NRAS PIK3CA
12
Show member pathways
12.3 BRAF CCL2 CCR6 NRAS PIK3CA
13
Show member pathways
12.28 IL1B NRAS PIK3CA
14
Show member pathways
12.25 IL1B NRAS PIK3CA
15
Show member pathways
12.23 IL1B NRAS PIK3CA
16
Show member pathways
12.19 BRAF CCL2 PIK3CA
17
Show member pathways
12.17 BRAF NRAS PIK3CA
18
Show member pathways
12.1 BRAF NRAS PIK3CA
19
Show member pathways
12.09 CCL2 IL1B NRAS PIK3CA
20
Show member pathways
12.08 CCL2 IL1B PIK3CA
21 12.07 BRAF NRAS PIK3CA
22
Show member pathways
12.06 BRAF NRAS PIK3CA
23
Show member pathways
12.04 BRAF NRAS PIK3CA
24
Show member pathways
11.94 BRAF CCL2 NRAS
25
Show member pathways
11.93 BRAF NRAS PIK3CA
26 11.81 CCL2 IL1B PIK3CA
27
Show member pathways
11.79 BRAF NRAS PIK3CA
28 11.75 BRAF NRAS PIK3CA
29
Show member pathways
11.7 BRAF IL1B PIK3CA
30
Show member pathways
11.67 IL1B PIK3CA
31 11.58 CCL2 IL1B PIK3CA
32 11.5 CCL2 IL1B
33 11.47 BRAF NRAS
34 11.42 BRAF PIK3CA
35
Show member pathways
11.42 BRAF NRAS PIK3CA
36 11.37 CCL2 IL1B
37 11.37 CCL2 IL1B
38 11.36 CCL2 IL1B
39 11.17 BRAF NRAS
40 11.09 NRAS PIK3CA
41 11.04 BRAF PIK3CA
42 10.95 BRAF PIK3CA
43 10.92 CCL2 IL1B NRAS PIK3CA
44 10.84 CCL2 SERPINA3
45 10.74 CCL2 IL1B
46 10.53 CCL2 IL1B PIK3CA

GO Terms for Erdheim-Chester Disease

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

id 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 14)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.89 BRAF CCL2 CCR6 IL1B NRAS
2 leukocyte migration GO:0050900 9.61 IL1B NRAS PIK3CA
3 negative regulation of neuron apoptotic process GO:0043524 9.58 BRAF CCL2 PIK3CA
4 cellular response to glucose stimulus GO:0071333 9.54 CCL2 PIK3CA
5 epidermal growth factor receptor signaling pathway GO:0007173 9.52 NRAS PIK3CA
6 humoral immune response GO:0006959 9.51 CCL2 CCR6
7 inflammatory response GO:0006954 9.5 CCL2 IL1B SERPINA3
8 ERBB2 signaling pathway GO:0038128 9.48 NRAS PIK3CA
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.46 CCL2 IL1B
10 leukocyte migration involved in inflammatory response GO:0002523 9.37 CCL2 CCR6
11 cellular response to drug GO:0035690 9.33 BRAF CCL2 IL1B
12 cell chemotaxis GO:0060326 9.26 CCL2 CCR6
13 MAPK cascade GO:0000165 9.26 BRAF CCL2 IL1B NRAS
14 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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