MCID: HVY001
MIFTS: 40

Heavy Chain Disease

Categories: Blood diseases, Rare diseases, Immune diseases, Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Heavy Chain Disease

MalaCards integrated aliases for Heavy Chain Disease:

Name: Heavy Chain Disease 12 56 42 14 69
Hcd 56

Characteristics:

Orphanet epidemiological data:

56
heavy chain disease
Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060125
ICD10 33 C88.2
MeSH 42 D006362
Orphanet 56 ORPHA86864
MESH via Orphanet 43 D006362
UMLS via Orphanet 70 C0018852
ICD10 via Orphanet 34 C88.2 C88.3

Summaries for Heavy Chain Disease

Disease Ontology : 12 A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.

MalaCards based summary : Heavy Chain Disease, also known as hcd, is related to mu chain disease and gamma heavy chain disease. An important gene associated with Heavy Chain Disease is IGHG3 (Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)), and among its related pathways/superpathways are NF-kappaB Signaling and IL4-mediated signaling events. The drugs nivolumab and Palbociclib have been mentioned in the context of this disorder. Affiliated tissues include testes, lung and small intestine.

Wikipedia : 72 Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the... more...

Related Diseases for Heavy Chain Disease

Diseases in the Heavy Chain Disease family:

Gamma Heavy Chain Disease Alpha-Heavy Chain Disease

Diseases related to Heavy Chain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
id Related Disease Score Top Affiliating Genes
1 mu chain disease 32.3 CD40LG CD79A
2 gamma heavy chain disease 31.0 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
3 lymphoma 30.4 CD40LG CD79A
4 delta chain disease 28.3 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
5 alpha-heavy chain disease 12.2
6 agammaglobulinemia 11.4
7 alpha chain disease 11.2
8 myosinopathies 11.0
9 disease_ontology 10.4 CD40LG MYD88
10 metabolic acidosis 10.4 CD40LG MYD88
11 alcoholic neuropathy 10.4 CD40LG CD79A
12 calloso-genital dysplasia 10.4 CD40LG CD79A
13 variola major 10.4 CD40LG CD79A
14 rabies 10.4 CD40LG CD79A
15 familial retinoblastoma 10.4 CD40LG CD79A
16 anti-basement membrane glomerulonephritis 10.4 CD40LG CD79A
17 microinvasive cervical squamous cell carcinoma 10.4 CD40LG CD79A
18 fetal erythroblastosis 10.4 CD40LG CD79A
19 spinal canal and spinal cord meningioma 10.4 CD40LG CD79A
20 trichostrongyloidiasis 10.4 CD40LG CD79A
21 leukodystrophy 10.4 CD40LG CD79A
22 retinal microaneurysm 10.4 CD40LG CD79A
23 heart septal defect 10.4 CD40LG CD79A
24 cryptorchidism arachnodactyly mental retardation 10.4 CD40LG CD79A
25 acute kidney tubular necrosis 10.4 CD40LG CD79A
26 secretory meningioma 10.4 CD40LG CD79A
27 hodgkin's lymphoma, nodular sclerosis 10.4 CD40LG CD79A
28 imperforate oropharynx-costo vetebral anomalies 10.4 CD40LG CD79A
29 malignant otitis externa 10.4 CD40LG CD79A
30 transient hypogammaglobulinemia 10.4 CD40LG CD79A
31 benign epilepsy with centrotemporal spikes 10.4 CD40LG CD79A
32 tongue cancer 10.4 CD40LG CD79A
33 hydrops of gallbladder 10.4 CD40LG CD79A
34 diabetic angiopathy 10.4 CD40LG CD79A
35 rosacea conjunctivitis 10.4 CD40LG CD79A
36 viral meningitis 10.4 CD40LG CD79A
37 heart fibrosarcoma 10.4 CD40LG CD79A
38 alopecia areata 10.4 CD40LG CD79A
39 kidney carcinoma in situ 10.4 CD40LG CD79A
40 cardiac tuberculosis 10.4 CD40LG CD79A
41 dumping syndrome 10.4 CD40LG CD79A
42 leiomyosarcoma 10.4 CD40LG CD79A
43 periarthritis 10.4 CD40LG CD79A
44 generalized atherosclerosis 10.4 CD40LG CD79A
45 cerebral neuroblastoma 10.4 CD40LG CD79A
46 pancreatic vasoactive intestinal peptide producing tumor 10.4 CD40LG CD79A
47 oculo-cerebral dysplasia 10.4 CD40LG CD79A
48 aniseikonia 10.4 CD40LG CD79A
49 gestational diabetes 10.4 CD40LG CD79A
50 polyneuropathy due to drug 10.4 CD40LG CD79A

Graphical network of the top 20 diseases related to Heavy Chain Disease:



Diseases related to Heavy Chain Disease

Symptoms & Phenotypes for Heavy Chain Disease

Drugs & Therapeutics for Heavy Chain Disease

Drugs for Heavy Chain Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 97)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2, Phase 3,Phase 1 946414-94-4
2
Palbociclib Approved Phase 2, Phase 3 571190-30-2 11431660 5005498 5330286
3
Cetuximab Approved Phase 2, Phase 3 205923-56-4 56842117 2333
4
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
5
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
6 Antibodies Phase 3,Phase 2,Phase 1
7 Immunoglobulins Phase 3,Phase 2,Phase 1
8 Pharmaceutical Solutions Phase 3
9 Antibodies, Monoclonal Phase 2, Phase 3, Phase 1
10 Antimitotic Agents Phase 2, Phase 3
11
Erlotinib Hydrochloride Phase 2, Phase 3 183319-69-9 176871
12 Protein Kinase Inhibitors Phase 2, Phase 3
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
15
Fluconazole Approved Phase 1, Phase 2 86386-73-4 3365
16
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
17
Paroxetine Approved, Investigational Phase 1, Phase 2 61869-08-7 43815
18
Everolimus Approved Phase 2 159351-69-6 6442177
19
Formaldehyde Approved, Vet_approved Phase 2 50-00-0 712
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
21
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
22
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
23
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
24
Adalimumab Approved Phase 2 331731-18-1 16219006
25
Mechlorethamine Approved Phase 2 51-75-2 4033
26
rituximab Approved Phase 2 174722-31-7 10201696
27
Natalizumab Approved, Investigational Phase 2 189261-10-7
28
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
29
Tremelimumab Investigational Phase 1, Phase 2 745013-59-6
30 Angiogenesis Inhibitors Phase 2,Phase 1
31 Angiogenesis Modulating Agents Phase 2,Phase 1
32 Immunoglobulin A Phase 2
33 Immunoglobulin M Phase 2
34 Myeloma Proteins Phase 2
35 Paraproteins Phase 2
36 Antidepressive Agents Phase 1, Phase 2
37 Antidepressive Agents, Second-Generation Phase 1, Phase 2
38 Antifungal Agents Phase 1, Phase 2
39 Anti-Infective Agents Phase 1, Phase 2
40 Cytochrome P-450 CYP2C9 Inhibitors Phase 1, Phase 2
41 Cytochrome P-450 CYP2D6 Inhibitors Phase 1, Phase 2
42 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
43 Hormone Antagonists Phase 1, Phase 2
44 Hormones Phase 1, Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
46 Neurotransmitter Agents Phase 1, Phase 2
47 Neurotransmitter Uptake Inhibitors Phase 1, Phase 2
48 Psychotropic Drugs Phase 1, Phase 2
49
Serotonin Phase 1, Phase 2 50-67-9 5202
50 Serotonin Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 43)

id Name Status NCT ID Phase Drugs
1 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
2 Efficacy and Safety of Mepolizumab as an Add-on Treatment in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02105961 Phase 3 Mepolizumab;Placebo
3 Study to Evaluate Efficacy and Safety of Mepolizumab for Frequently Exacerbating Chronic Obstructive Pulmonary Disease (COPD) Patients Completed NCT02105948 Phase 3 Mepolizumab;Placebo
4 S1400 Lung-MAP: Biomarker-Targeted Second-Line Therapy in Treating Patients With Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT02154490 Phase 2, Phase 3 Docetaxel;Erlotinib Hydrochloride;FGFR Inhibitor AZD4547;Palbociclib;Taselisib
5 Radiation Therapy With Durvalumab or Cetuximab in Treating Patients With Stage III-IVB Head and Neck Cancer Who Cannot Take Cisplatin Not yet recruiting NCT03258554 Phase 2, Phase 3
6 A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed/Refractory Multiple Myeloma Completed NCT00464178 Phase 2 Bortezomilb
7 Study of Paroxetine and Fluconazole for the Treatment of HIV Associated Neurocognitive Disorder Completed NCT01354314 Phase 1, Phase 2 Fluconazole;Paroxetine;Paroxetine and Fluconazole;Placebo
8 Everolimus in Treating Patients With Relapsed or Refractory Mantle Cell Lymphoma Completed NCT00516412 Phase 2 everolimus
9 Lenalidomide in Combination With Melphalan and Dexamethasone in Newly-diagnosed Light-chain (AL)-Amyloidosis Completed NCT00621400 Phase 1, Phase 2 Lenalidomide;Melphalan;Dexamethasone
10 Assessing Free Immunoglobulin Light Chains in Patients With Myeloma Completed NCT00301275 Phase 2
11 MABp1 IN HIDRADENITIS SUPPURATIVA REFRACTORY TO ADALIMUMAB Completed NCT02643654 Phase 2 MABp1;Placebo
12 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
13 Natalizumab Treatment of Progressive Multiple Sclerosis Completed NCT01077466 Phase 2 Natalizumab
14 Durvalumab Before Surgery in Treating Patients With Oral Cavity or Oropharynx Cancer Recruiting NCT02827838 Phase 2
15 Olaparib, Durvalumab, and Tremelimumab in Treating Patients With Recurrent or Refractory Ovarian, Fallopian Tube or Primary Peritoneal Cancer With BRCA1 or BRCA2 Mutation Recruiting NCT02953457 Phase 1, Phase 2 Olaparib
16 Tremelimumab and Durvalumab in Combination or Alone in Treating Patients With Recurrent Malignant Glioma Recruiting NCT02794883 Phase 2
17 Durvalumab and Tremelimumab With or Without High or Low-Dose Radiation Therapy in Treating Patients With Metastatic Colorectal or Non-small Cell Lung Cancer Recruiting NCT02888743 Phase 2
18 Durvalumab With or Without Lenalidomide in Treating Patients With Relapsed or Refractory Cutaneous or Peripheral T Cell Lymphoma Active, not recruiting NCT03011814 Phase 1, Phase 2 Lenalidomide
19 S1400A Lung-Map: MEDI4736 as Second-Line Therapy in Treating Patients With Recurrent Stage IV Squamous Cell Lung Cancer and No Matching Biomarkers Active, not recruiting NCT02766335 Phase 2 Docetaxel
20 Durvalumab in Treating Patients With Metastatic Hormone-Resistant Prostate Cancer Not yet recruiting NCT02966587 Phase 2
21 Nivolumab With or Without Varlilumab in Treating Patients With Relapsed or Refractory Aggressive B-cell Lymphomas Not yet recruiting NCT03038672 Phase 2 Varlilumab
22 Tocilizumab for Chronic Graft-versus-Host Disease Treatment Withdrawn NCT02174263 Phase 2
23 Durvalumab and Tremelimumab in Treating Patients With Microsatellite Stable Metastatic Colorectal Cancer to the Liver Recruiting NCT03005002 Phase 1
24 JCAR014 and Durvalumab in Treating Patients With Relapsed or Refractory B-cell Non-Hodgkin Lymphoma Recruiting NCT02706405 Phase 1 Cyclophosphamide;Fludarabine Phosphate
25 Durvalumab in Treating Patients With Primary, Post-Polycythemia Vera, or Post-Essential Thrombocythemia Myelofibrosis Active, not recruiting NCT02871323 Phase 1
26 Phase I Study of Investigational Medicinal Products in Children With Relapsed/Refractory Neuroblastoma Not yet recruiting NCT02914405 Phase 1 Nivolumab;Ch14.18/CHO
27 Genetic Test in Detecting Minimal Residual Disease in Samples From Younger Patients Registered on the COG-AALL08B1 Trial Completed NCT01629745
28 Genetic Test To Identify Previously Undetectable Minimal Residual Disease in Cell Samples From Younger Patients With Acute Lymphoblastic Leukemia Completed NCT01533168
29 Polymorphism of the IgH Locus Regulatory Region as a Prognostic Factor During Immune Pathologies. Completed NCT01715623
30 Inflammatory Abnormalities in Muscle After Stroke: Effects of Exercise Completed NCT00387712
31 A Study to Evaluate the Performance of a Diagnostic Test in ALS Recruiting NCT02759913
32 Mutations in Genes Associated With Pentalogy of Cantrell Recruiting NCT00083499
33 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
34 Neurofilaments for NEDA Assessing in MS Recruiting NCT03250169 Alemtuzumab
35 Evaluation of the Axonemal Dynein Heavy Chain 5 and Creatine Kinase Concentration in Cervical Fluid for Early Detection of the Ectopic Pregnancy Recruiting NCT02995356
36 Sepsis Associated Encephalopathy (SAE) Biomarkers Recruiting NCT03133208
37 Screening for Hereditary Transthyretin Related Amyloidosis-an Nationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
38 Bortezomib/Dexamethasone (BD), Followed By Autologous Stem Cell Transplantation and Maintenance Bortezomib/Dexamethasone For the Initial Treatment of Monoclonal Immunoglobulin Deposition Disease (MIDD) Associated With Multiple Myeloma and AL Amyloidosis Active, not recruiting NCT01383759 Bortezomib/Dexamethasone (BD), Followed By Autologous STC & Maintenance Bortezomib/Dexamethasone
39 Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease Active, not recruiting NCT02612350
40 Molecular Features Underlying Racial Differences in Survival of Taiwanese Chronic Lymphocytic Leukemia Patients Enrolling by invitation NCT02553304
41 Effect of Diaphragm Stimulation During Surgery Not yet recruiting NCT03303040
42 Genes Mutation Pentalogy of Cantrell Withdrawn NCT00477932
43 Non Neutralizing Antibodies: Prevalence and Characterization Withdrawn NCT01541527

Search NIH Clinical Center for Heavy Chain Disease

Cochrane evidence based reviews: heavy chain disease

Genetic Tests for Heavy Chain Disease

Anatomical Context for Heavy Chain Disease

MalaCards organs/tissues related to Heavy Chain Disease:

39
Testes, Lung, Small Intestine, Liver, T Cells, B Cells, Prostate

Publications for Heavy Chain Disease

Articles related to Heavy Chain Disease:

(show top 50) (show all 191)
id Title Authors Year
1
Heavy chain disease: our experience. ( 28665788 )
2017
2
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
3
T cell receptor rearrangements in a patient with I^-heavy chain disease: A case report. ( 27313757 )
2016
4
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
5
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
6
Franklin's disease: immunoglobulin heavy chain disease. ( 27358869 )
2015
7
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
8
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
9
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
10
Severe enteropathy caused by I+-heavy chain disease lacking detectable M-proteins. ( 24633028 )
2014
11
Alpha heavy chain disease: a rare lymphoma hard to diagnose. ( 25125965 )
2014
12
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
13
Analysis of patients with I^-heavy chain disease by the heavy/light chain and free light chain assays. ( 24327529 )
2013
14
Gamma heavy chain disease in a patient with underlying lymphoplasmacytic lymphoma of the thyroid. Report of a case and comparison with other reported cases with thyroid involvement. ( 22561184 )
2012
15
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
16
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
17
Successful treatment of I^-heavy-chain disease with rituximab and fludarabine. ( 22890122 )
2012
18
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
19
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
20
Capillary immunotyping electrophoresis and high resolution two-dimensional electrophoresis for the detection of mu-heavy chain disease. ( 18036562 )
2008
21
Hypertrophic spinal pachymeningitis associated with heavy-chain disease. Case report. ( 17933324 )
2007
22
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
23
Multiple extranodal tumors in mu-heavy chain disease. ( 17050207 )
2006
24
Detection of heavy chain disease by capillary zone electrophoresis. ( 15976121 )
2005
25
Heavy chain disease can be detected by capillary zone electrophoresis. ( 15613723 )
2005
26
Mu-heavy chain disease associated with systemic amyloidosis. ( 15203869 )
2004
27
A 59-year-old woman with immunotactoid glomerulopathy, heavy-chain disease, and non-hodgkin lymphoma. ( 15163227 )
2004
28
Successful treatment of mu-heavy chain disease with fludarabine monophosphate: a case report. ( 15005347 )
2004
29
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
30
Heavy chain disease. ( 12057070 )
2002
31
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
32
Test and teach. Laboratory characterisation of paraproteins. Heavy chain disease. ( 11523944 )
2001
33
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
34
Gamma heavy chain disease in man: independent structural abnormalities and reduced transcription of a functionally rearranged lambda L-chain gene result in the absence of L-chains. ( 10950937 )
2000
35
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
36
Test and teach. Number One hundred and four. Mu heavy chain disease (mu-HCD). ( 10968396 )
2000
37
Alpha heavy chain disease in a child. ( 10881592 )
2000
38
Alpha-heavy chain disease, Mediterranean lymphoma, and immunoproliferative small intestinal disease: a review of clinicopathological features, pathogenesis, and differential diagnosis. ( 10235185 )
1999
39
Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease. ( 9482908 )
1998
40
A case of mu heavy-chain disease associated with hyperglobulinemia, anemia, and a positive Coombs test. ( 9858149 )
1998
41
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
42
Cast nephropathy in mu heavy chain disease. ( 9285150 )
1997
43
A case of mu-heavy chain disease: combined features of mu-chain disease and macroglobulinemia. ( 9401282 )
1997
44
Malabsorption associated with a high-grade-malignant non-Hodgkin's lymphoma, alpha-heavy-chain disease and immunoproliferative small intestinal disease. ( 7793120 )
1995
45
Failure of anti-lambda immunofixation reagent mimics alpha heavy-chain disease. ( 7813064 )
1995
46
Pre-B-cell development in the absence of lambda 5 in transgenic mice expressing a heavy-chain disease protein. ( 8548286 )
1995
47
Primary SjAPgren's syndrome and gamma heavy chain disease. ( 7991295 )
1994
48
First report of fludarabine in gamma-heavy chain disease. ( 7819086 )
1994
49
Modified immunoselection technique for definitive diagnosis of heavy-chain disease. ( 8149622 )
1994
50
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. ( 8160637 )
1994

Variations for Heavy Chain Disease

Expression for Heavy Chain Disease

Search GEO for disease gene expression data for Heavy Chain Disease.

Pathways for Heavy Chain Disease

Pathways related to Heavy Chain Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.63 CD40LG CD79A MYD88
2 11.06 CD40LG IGHG3
3 10.85 CD40LG MYD88
4 10.19 CD40LG CD79A

GO Terms for Heavy Chain Disease

Cellular components related to Heavy Chain Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD40LG CD79A IGHG3

Biological processes related to Heavy Chain Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 8.96 CD40LG CD79A
2 B cell proliferation GO:0042100 8.62 CD40LG CD79A

Sources for Heavy Chain Disease

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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