ECD
MCID: ERD001
MIFTS: 64

Erdheim-Chester Disease (ECD) malady

Bone diseases, Skin diseases categories

Summaries for Erdheim-Chester Disease

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Erdheim-Chester Disease, also known as erdheim chester disease, is related to histiocytosis and meningioma, and has symptoms including cough, pericardium anomalies/pericarditis/absence/cysts/pericardial effusion and heart/cardiac failure. An important gene associated with Erdheim-Chester Disease is CCR7 (chemokine (C-C motif) receptor 7), and among its related pathways are Senescence and Autophagy and LDL Oxidation in Atherogenesis. The compounds pge2 and dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin, and related mouse phenotypes are nervous system and tumorigenesis.

Wikipedia:63 Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing... more...

Aliases & Classifications for Erdheim-Chester Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
erdheim-chester disease:
Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

erdheim-chester disease 8 42 48 60
erdheim chester disease 42
lipoid granulomatosis 42
ecd 42


External Ids:

Disease Ontology8 DOID:4329
MeSH34 D031249
NCIt39 C53972
MESH via Orphanet35 D031249
ICD10 via Orphanet26 D76.3
UMLS via Orphanet61 C0878675

Related Diseases for Erdheim-Chester Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Erdheim-Chester Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 223)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis31.3S100B
2meningioma30.7SST, S100B
3interstitial lung disease30.7IL1B, CCL2
4hypopituitarism30.3IGF1, SST
5atopic dermatitis30.3CCL4, CCL2, CCR3
6arthropathy30.3CRP, IL1B
7hypertension30.3CCL2, CRP, IGF1
8adenoma30.3BRAF, PRKG1, SST, IGF1
9tuberculosis30.3IL1B, CRP, CCL4, CCR7
10breast cancer30.3CCR6, CCR7, CCL4, CCR5, BRAF, IGF1
11atherosclerosis30.3CCL4, CCR5, CCL2, CCR3, CRP, IGF1
12alzheimer's disease30.1CCR3, S100B, SST, IL1B
13malaria29.9PRKG1
14aortic aneurysm29.8CRP
15pancreatitis29.8IL1B, SST, CRP
16pancreatic cancer29.8CCR6, CCR7, BRAF, SST, IGF1
17langerhans-cell histiocytosis10.8
18orbital disease10.8
19cerebritis10.7
20cerebellar disease10.7
21brain disease10.6
22breast disease10.6
23pericardial effusion10.6
24diabetes insipidus10.5
25liver disease10.5
26non-langerhans-cell histiocytosis10.5
27neurologic diseases10.5
28central nervous system disease10.5
29kidney disease10.5
30nervous system disease10.5
31skin disease10.5
32spinal cord disease10.5
33thyroiditis10.4
34coronary artery disease10.2
35ureteral obstruction10.2
36schnitzler syndrome10.2
37rhinoscleroma10.2
38hydronephrosis10.2
39familial hemiplegic migraine10.2
40coats disease10.2
41exophthalmos10.2
42portal hypertension10.2
43end stage renal failure10.2
44amyloidosis10.2
45cerebellar ataxia10.2
46dermatitis10.2
47eyelid disease10.2
48hypothalamic disease10.2
49migraine10.2
50multiple system atrophy10.2

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



Diseases related to erdheim-chester disease

Clinical Features for Erdheim-Chester Disease

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Sources:
48Orphanet
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Symptoms:

48 (show all 43)
  • cough
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • heart/cardiac failure
  • renal failure
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypereflexia
  • elocution disorders/dysarthria/dysphonia
  • osteonecrosis/bone infarction
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • early death/lethality
  • osteolysis/osteoclasia/bone destruction/erosions
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • lung fibrosis
  • fever/chilling
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • epiphyseal anomaly
  • metaphyseal anomaly
  • bone pain
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • osteosclerosis/osteopetrosis/bone condensation
  • late puberty/hypogonadism/hypogenitalism
  • diabetes insipidus
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • xanthomas/lipomas
  • hyperhidrosis/increased sweating
  • thirst
  • asthenia/fatigue/weakness
  • acute abdominal pain/colic
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cutaneous rash
  • ptosis
  • nystagmus
  • mild visual loss/impaired visual acuity
  • hydrarthrosis/articular/joint effusion
  • functional anomalies of the kidney and the urinary tract
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • renal/kidney anomalies
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • proptosis/exophthalmos

Drugs & Therapeutics for Erdheim-Chester Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Erdheim-Chester Disease

Drug clinical trials:

Search ClinicalTrials for Erdheim-Chester Disease

Search NIH Clinical Center for Erdheim-Chester Disease

Search CenterWatch for Erdheim-Chester Disease

Genetic Tests for Erdheim-Chester Disease

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Anatomical Context for Erdheim-Chester Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Erdheim-Chester Disease:

32
Bone, Lung, Skin, Brain, Pituitary, Bone marrow, Kidney, Breast, Cerebellum, Heart, Liver, Spinal cord, Thyroid, Endothelial, Testes, Lymph node

Animal Models for Erdheim-Chester Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Erdheim-Chester Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.5CCR6, CCR5, PRKG1
2MP:00020068.4IL1B, IGF1, BRAF, CCL2, CCR5
3MP:00053818.1CCR7, CCR5, CCL2, BRAF, PRKG1, SST
4MP:00053768.1CCR6, CCR7, CCR5, CCL2, CCR3, CRP
5MP:00028737.8CCR6, CCL2, BRAF, S100B, PRKG1, SST
6MP:00053977.6CCR6, CCR7, CCR5, CCL2, CCR3, BRAF
7MP:00053847.2CCR6, CCR7, CCR5, CCL2, CCR3, BRAF
8MP:00053857.1CCR5, CCL2, BRAF, CRP, PRKG1, IGF1
9MP:00053876.3IL1B, CCR6, CCR7, CCR5, CCL2, CCR3

Publications for Erdheim-Chester Disease

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Sources:
50PubMed
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Articles related to Erdheim-Chester Disease:

(show top 50)    (show all 318)
idTitleAuthorsYear
1
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. (24046179)
2013
2
Hand-SchA1ller-Christian disease and Erdheim-Chester disease: coexistence and discrepancy. (23299772)
2013
3
Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. (23953221)
2013
4
Erdheim-Chester disease: A clinical and radiological masquerade. (24346395)
2013
5
18F-fluoride PET/CT aspect of an unusual case of Erdheim-Chester disease with histologic features of Langerhans cell histiocytosis. (23603579)
2013
6
Erdheim-Chester Disease: a comprehensive review of the literature. (24011030)
2013
7
Erdheim-Chester disease detected with 99mTc MDP bone SPECT/CT. (23019992)
2012
8
Unusual orbital involvement in Erdheim Chester disease: a radiological diagnosis. (22631449)
2012
9
Cardiovascular involvement in Erdheim-Chester disease. (21676475)
2012
10
Langerhans cell histiocytosis and Erdheim-Chester disease. (22157416)
2012
11
Scintigraphic diagnosis of Erdheim-Chester disease. (21422416)
2011
12
Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs. (21898344)
2011
13
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. (20337948)
2010
14
Neurosurgical biopsy as the initial diagnosis of xanthogranuloma of the Erdheim-Chester disease variety of the infundibulum and optic apparatus: letter to the editor. (20049489)
2010
15
Atypical spine involvement of Erdheim-Chester disease in an elderly male. (20192624)
2010
16
Erdheim-Chester disease: a pitfall in DXA measurements. (19578853)
2010
17
Meningioma-like lesions in Erdheim Chester disease. (20449616)
2010
18
Erdheim-Chester disease. (20810522)
2010
19
Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. (20724540)
2010
20
Erdheim-Chester disease in childhood: a challenging diagnosis and treatment. (19755920)
2009
21
Clonal status and clinicopathological feature of Erdheim-Chester disease. (19339122)
2009
22
Erdheim-Chester disease with predominant mesenteric localization: lack of efficacy of interferon alpha. (19119043)
2009
23
Erdheim-Chester disease: report of a case with PCR-based analysis of the expression of osteopontin and survivin in Xanthogranulomas following glucocorticoid treatment. (18270430)
2008
24
Erdheim-Chester disease: symmetric uptake in the (99m)Tc-MDP bone scan. (19081860)
2008
25
Erdheim-Chester disease: a rare cause of renal failure. (17395655)
2007
26
Treatment of skeletal Erdheim-Chester disease with zoledronic acid: case report and proposed mechanisms of action. (16932956)
2007
27
Biliary manifestation of Erdheim-Chester disease mimicking Klatskin's carcinoma. (17037989)
2007
28
Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim-Chester disease: implications for pathogenesis. (17133532)
2006
29
Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients. (17009306)
2006
30
Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. (17063320)
2006
31
Neurological picture. Torcular Erdheim-Chester disease. (16914757)
2006
32
Case 78: Erdheim-Chester disease with central nervous system involvement. (15618378)
2005
33
Radionuclide bone imaging in Erdheim-Chester disease. (15604967)
2005
34
Erdheim-Chester disease mimicking a primary brain tumor. Case report. (15200134)
2004
35
Images in neuroscience: question. Erdheim-Chester disease. (14975419)
2004
36
Familial hemiplegic migraine, neuropsychiatric symptoms, and Erdheim-Chester disease. (15447701)
2004
37
Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase. (12594120)
2003
38
Erdheim-Chester disease: a rare cause of paraplegia. (12554012)
2003
39
Imaging of Erdheim-Chester disease. (11874230)
2002
40
Erdheim-chester disease. (11428798)
2001
41
Skin manifestations of Erdheim-Chester disease. Case report and review of the literature]. (11428080)
2001
42
Erdheim-Chester disease with extensive marrow necrosis: a case report and literature review. (11469352)
2001
43
Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings. (10789787)
2000
44
Erdheim-Chester disease involving bilateral lower extremities: MR features. (10701649)
2000
45
Pulmonary pathology of Erdheim-Chester disease. (10912934)
2000
46
Endocrine manifestations of Erdheim-Chester disease (a distinct form of histiocytosis). (9893107)
1998
47
Cerebral manifestation of Erdheim-Chester disease: clinical and radiologic findings. (9409372)
1997
48
Erdheim-Chester disease with epiphyseal and systemic disease. (8320335)
1993
49
Erdheim-Chester disease. A report of three cases. (2925725)
1989
50
Erdheim-Chester disease with bilateral exophthalmus and liver cell adenoma. (6100165)
1984

Genetic Variations for Erdheim-Chester Disease

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Expression for genes affiliated with Erdheim-Chester Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erdheim-Chester Disease

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

Pathways for genes affiliated with Erdheim-Chester Disease

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Sources:
37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG, 53Reactome
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Pathways related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0BRAF
29.6IL1B, CCL2
3
Hide members
9.4CCR6, CCR7, CCR5, CCR3
4
Hide members
9.4CCR6, CCR7, CCR5, CCR3
5
Hide members
9.3CCL4, CCL2
69.0CCL2, CRP, IL1B
79.0IGF1, PRKG1, BRAF
8
Hide members
8.9IL1B, CCR5, CCL4
9
Hide members
8.8CCR6, CCR7, CCR5, CCR3, BRAF
108.2CCR3, CCL2, CCR5, CCL4, CCR7, CCR6
11
Hide members
7.8CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
12
Hide members
7.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
13
Hide members
7.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3
14
Hide members
7.3IGF1, CCR3, CCL2, CCR5, CCL4, CCR7
15
Hide members
7.3CCR6, IL1B, IGF1, CCR3, CCL2, CCR5
16
Hide members
6.6CCR6, CCR7, CCL4, CCR5, CCL2, CCR3

Compounds for genes affiliated with Erdheim-Chester Disease

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1pge24410.5SST
2dexamethasone44 49 28 1113.3S100B, CCR3
3norepinephrine44 11 2412.3CCR7, S100B
4ccl22810.1CCR5, CCR3
5[125i]ccl5 (human)2810.1CCR5, CCR3
6ccl112810.0CCR5, CCR3
7somatuline4410.0SST, IGF1
8ccl82810.0CCR5, CCR3
9ccl5289.9CCR5, CCR3
10muramyl tripeptide449.5CCL2, IL1B
11turpentine449.4IL1B, CRP
12glucose449.4PRKG1, IGF1, BRAF
13mcp 1449.4CCL2, CCR3, CCL4
14sulfasalazine44 28 49 1112.3CCL2, CRP, IL1B
15nitroglycerin44 1110.2CRP, SST, PRKG1
16toxin-1449.2IL1B, CCL4, CCL2
17acth449.1IGF1, S100B, SST, IL1B
18aspartate449.1CCR5, CCL2, BRAF, PRKG1
19rantes449.1CCR6, CCR7, IL1B, CCL4
20mdms449.1CCL4, CCR5, CCL2, S100B
21triptolide449.0IL1B, CCL2, CCL4, CCR7
22actinomycin d449.0IL1B, CCL2, CCR5, CCR3, IGF1
23mip 1alpha448.9CCL4, CCL2, CCR5, IL1B
24genistein44 28 59 2 11 2413.9IGF1, IL1B, SST, CCR3, CCL2
25groalpha448.9CCL4, CCR5, CCL2, IL1B
26il 10448.9CCR5, CCL4, IL1B, CCL2
27larc448.9CCL2, CCR5, CCL4, CCR7, CCR6
28creatinine448.8IGF1, CRP, CCL4
29glutamine448.7CCL2, S100B, CRP, CCR5, IGF1
30thymidine44 249.7IGF1, S100B, CCR3, IL1B, PRKG1
31ivig448.6CRP, CCR5, CCL4, IL1B
32simvastatin44 49 59 28 11 2413.6CRP, CCL2, CCR5, CCL4
33rapamycin448.6SST, CRP, IGF1, BRAF, CCR5
34tarc448.6CCR5, CCL2, CCL4, CCR7, CCR6, CCR3
35arginine448.5SST, CCR5, CCL2, BRAF, IGF1, S100B
36ly294002448.4IGF1, IL1B, CRP, CCL2, BRAF
37ccl344 289.4CCR7, CCL4, CCR5, IL1B, CCL2, CCR3
38ccl444 289.3CCR5, CCL4, CCR3, CCR7, CCR6, CCL2
39histamine44 28 2410.3CCR5, CCL2, SST, CCR3, IL1B, CCL4
40testosterone44 59 11 2411.3IGF1, SST, CRP, S100B, PRKG1, CCL2
41pd 98,059448.2IL1B, BRAF, CCL4, CCL2, IGF1
42wortmannin448.2CCR3, IGF1, CCL4, CCL2, BRAF, S100B
43serine447.8CCR5, CCL2, PRKG1, CCL4, S100B
44alanine447.8CRP, S100B, BRAF, CCR3, CCR5, CCL4
45lipid447.7PRKG1, CCR6, CCR7, CCL2, CCR3, BRAF
46sb 20358044 598.7CRP, CCL2, IL1B, CCL4, BRAF, IGF1
47retinoic acid44 248.5S100B, IGF1, BRAF, CCL4, SST, IL1B
48tyrosine447.4PRKG1, CCR3, CCR5, CCL4, CCR7, BRAF
49calcium44 49 11 249.6CCR6, CCR7, PRKG1, CRP, S100B, BRAF
50vegf446.3CCL2, CRP, PRKG1, SST, IGF1, CCL4

GO Terms for genes affiliated with Erdheim-Chester Disease

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Sources:
16Gene Ontology
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Cellular components related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3CCR7, CCR5, CCR3, BRAF, CRP, PRKG1
2extracellular regionGO:0055766.8CCL4, CCL2, S100B, CRP, SST, IGF1
3extracellular spaceGO:0056156.8IL1B, CCL4, CCL2, CCR3, S100B, CRP

Biological processes related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1dendritic cell chemotaxisGO:0024079.9CCR5, CCR7, CCR6
2cellular defense responseGO:0069689.8CCR3, CCR5, CCR6
3elevation of cytosolic calcium ion concentrationGO:0072049.6CCR6, CCR7, CCR5, CCR3
4chemokine-mediated signaling pathwayGO:0700989.5CCR3, CCL2, CCR5, CCR6
5MAPK cascadeGO:0001659.4CCR5, CCL2, IL1B
6cell surface receptor signaling pathwayGO:0071669.4SST, CCL2, CCR5
7G-protein coupled receptor signaling pathwayGO:0071869.2CCR7, CCR5, CCL2, SST
8positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.2CCR7, S100B, IL1B
9cellular component movementGO:0069288.9IGF1, CCL4, CCR6
10chemotaxisGO:0069358.7CCR6, CCL4, CCR5, CCL2, CCR3
11cell-cell signalingGO:0072678.6IL1B, SST, CCR5, CCL4
12immune responseGO:0069558.5CCR6, CCR7, CCL4, CCR5, IL1B
13signal transductionGO:0071657.8CCR6, CCL4, CCL2, PRKG1, IGF1, IL1B
14inflammatory responseGO:0069547.6IL1B, CCR7, CCL4, CCR5, CCL2, CCR3

Molecular functions related to Erdheim-Chester Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine receptor activityGO:0049509.6CCR3, CCR5, CCR6
2C-C chemokine receptor activityGO:0164939.1CCR3, CCR5, CCR7, CCR6

Products for genes affiliated with Erdheim-Chester Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erdheim-Chester Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet