MCID: IMM111
MIFTS: 55

Immunodeficiency, X-Linked, with Hyper-Igm

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, X-Linked, with Hyper-Igm

MalaCards integrated aliases for Immunodeficiency, X-Linked, with Hyper-Igm:

Name: Immunodeficiency, X-Linked, with Hyper-Igm 54 13
Higm1 50 56 71
Immunodeficiency with Hyper Igm Type 1 50 29
X-Linked Hyper Igm Syndrome 50 71
Xhim 50 71
Hyper-Igm Syndrome Due to Cd40 Ligand Deficiency 56
Hyper-Igm Immunodeficiency Syndrome, Type 1 69
Hyper-Igm Syndrome Due to Cd40l Deficiency 56
X-Linked Immunodeficiency with Hyper-Igm 1 71
Hyper Igm Immunodeficiency, X-Linked 50
Hyperimmunoglobulin M Syndrome 69
X-Linked Hyper-Igm Syndrome 56
Hyper-Igm Syndrome Type 1 56
Hyper Igm Syndrome 1 50
Hyper Igm Syndrome 50
Hyper-Igm Syndrome 52
Xhigm 56
Higm 50
Ihis 50

Characteristics:

OMIM:

54
Miscellaneous:
opportunistic infections
recurrent bacterial infections with onset in the first or second year of life
pneumocytosis carinii infection (12 to 42%)

Inheritance:
x-linked recessive


HPO:

32
immunodeficiency, x-linked, with hyper-igm:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


Summaries for Immunodeficiency, X-Linked, with Hyper-Igm

NIH Rare Diseases : 50 hyper igm syndrome is a type of primary immunodeficiency syndrome. primary immunodeficiency occurs when part of a person’s immune system is missing or does not work correctly. the bodies of people with primary immunodeficiency can’t get rid of germs or protect themselves from new germs as well as they should. primary immunodeficiencies are inherited, meaning they are passed down from parents to children.hyper igm syndromes are characterized by normal or elevated serum immunoglobulin m levels with absence of immunoglobulin g, a, and e. immunoglobulins are proteins found in the blood. hyper igm results in a susceptibility to bacterial infections and sometimes opportunistic infections. there are five different types of hyper igm syndromes (types 1-5). the types are distinguished by the location of the genemutation involved. last updated: 8/1/2013

MalaCards based summary : Immunodeficiency, X-Linked, with Hyper-Igm, also known as higm1, is related to ectodermal dysplasia, hypohidrotic, with immune deficiency and cd40 ligand deficiency, and has symptoms including neutropenia, diarrhea and hepatomegaly. An important gene associated with Immunodeficiency, X-Linked, with Hyper-Igm is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Allograft rejection and Immune response Fc epsilon RI pathway. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, liver and lymph node, and related phenotypes are hematopoietic system and cellular

UniProtKB/Swiss-Prot : 71 X-linked immunodeficiency with hyper-IgM 1: Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence.

OMIM : 54
HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). (308230)

Wikipedia : 72 Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40... more...

Related Diseases for Immunodeficiency, X-Linked, with Hyper-Igm

Diseases related to Immunodeficiency, X-Linked, with Hyper-Igm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 190)
id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.3
2 cd40 ligand deficiency 11.2
3 hyper-igm syndrome without susceptibility to opportunistic infections 10.8
4 hyper-igm syndrome with susceptibility to opportunistic infections 10.8
5 alcoholic neuropathy 10.7 CD40LG CD79A
6 calloso-genital dysplasia 10.7 CD40LG CD79A
7 variola major 10.7 CD40LG CD79A
8 mu chain disease 10.7 CD40LG CD79A
9 rabies 10.7 CD40LG CD79A
10 familial retinoblastoma 10.7 CD40LG CD79A
11 anti-basement membrane glomerulonephritis 10.7 CD40LG CD79A
12 microinvasive cervical squamous cell carcinoma 10.7 CD40LG CD79A
13 fetal erythroblastosis 10.7 CD40LG CD79A
14 spinal canal and spinal cord meningioma 10.7 CD40LG CD79A
15 trichostrongyloidiasis 10.7 CD40LG CD79A
16 leukodystrophy 10.7 CD40LG CD79A
17 retinal microaneurysm 10.7 CD40LG CD79A
18 heart septal defect 10.7 CD40LG CD79A
19 cryptorchidism arachnodactyly mental retardation 10.7 CD40LG CD79A
20 acute kidney tubular necrosis 10.7 CD40LG CD79A
21 secretory meningioma 10.7 CD40LG CD79A
22 hodgkin's lymphoma, nodular sclerosis 10.7 CD40LG CD79A
23 malignant otitis externa 10.7 CD40LG CD79A
24 transient hypogammaglobulinemia 10.7 CD40LG CD79A
25 benign epilepsy with centrotemporal spikes 10.7 CD40LG CD79A
26 tongue cancer 10.7 CD40LG CD79A
27 hydrops of gallbladder 10.7 CD40LG CD79A
28 gamma heavy chain disease 10.7 CD40LG CD79A
29 rosacea conjunctivitis 10.7 CD40LG CD79A
30 viral meningitis 10.7 CD40LG CD79A
31 alopecia areata 10.7 CD40LG CD79A
32 kidney carcinoma in situ 10.7 CD40LG CD79A
33 cardiac tuberculosis 10.7 CD40LG CD79A
34 dumping syndrome 10.7 CD40LG CD79A
35 disease_ontology 10.7 CD40 CD40LG
36 leiomyosarcoma 10.7 CD40LG CD79A
37 generalized atherosclerosis 10.7 CD40LG CD79A
38 colonic benign neoplasm 10.7 CD40LG CD79A
39 cerebral neuroblastoma 10.7 CD40LG CD79A
40 pancreatic vasoactive intestinal peptide producing tumor 10.7 CD40LG CD79A
41 gestational diabetes 10.7 CD40LG CD79A
42 chronic mucocutaneous candidiasis 10.7 CD40LG CD79A
43 acute hemorrhagic encephalitis 10.7 CD40LG CD79A
44 mental retardation, autosomal dominant 19 10.7 CD40LG CD79A
45 adie pupil 10.6 CD40LG CD79A
46 mitochondrial encephalomyopathy 10.6 CD40LG CD79A
47 pedophilia 10.6 CD40LG CD79A
48 immune-complex glomerulonephritis 10.6 CD40LG CD79A
49 malignant eyelid melanoma 10.6 CD40LG CD79A
50 basilar artery occlusion 10.6 CD40LG CD79A

Graphical network of the top 20 diseases related to Immunodeficiency, X-Linked, with Hyper-Igm:



Diseases related to Immunodeficiency, X-Linked, with Hyper-Igm

Symptoms & Phenotypes for Immunodeficiency, X-Linked, with Hyper-Igm

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
diarrhea
proctitis

Abdomen- Spleen:
splenomegaly

Immunology:
immunodeficiency
dysgammaglobulinemia
normal or increased igm
serum iga, igg, and ige severely deficient
lymph nodes lack germinal centers
more
Abdomen- Liver:
hepatomegaly
chronic hepatitis

Hematology:
thrombocytopenia
hemolytic anemia
neutropenia, chronic or cyclic
amemia

Head And Neck- Mouth:
gingivitis
tonsillar hypertrophy
ulcerative stomatitis


Clinical features from OMIM:

308230

Human phenotypes related to Immunodeficiency, X-Linked, with Hyper-Igm:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 diarrhea 32 HP:0002014
3 hepatomegaly 32 HP:0002240
4 splenomegaly 32 HP:0001744
5 thrombocytopenia 32 HP:0001873
6 immunodeficiency 32 HP:0002721
7 hemolytic anemia 32 HP:0001878
8 recurrent bacterial infections 32 HP:0002718
9 gingivitis 32 HP:0000230
10 iga deficiency 32 HP:0002720
11 stomatitis 32 HP:0010280
12 dysgammaglobulinemia 32 HP:0002961
13 igg deficiency 32 HP:0004315
14 chronic hepatitis 32 HP:0200123
15 decreased t cell activation 32 HP:0005419
16 hepatitis 32 HP:0012115
17 increased igm level 32 HP:0003496
18 absence of lymph node germinal center 32 HP:0002849
19 impaired memory b-cell generation 32 HP:0002847
20 impaired ig class switch recombination 32 HP:0002959
21 ige deficiency 32 HP:0005479

UMLS symptoms related to Immunodeficiency, X-Linked, with Hyper-Igm:


diarrhea

MGI Mouse Phenotypes related to Immunodeficiency, X-Linked, with Hyper-Igm:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.92 AICDA BTK CD40 CD40LG CD79A HPRT1
2 cellular MP:0005384 9.91 AICDA BTK CD40LG CD79A HPRT1 IL4
3 immune system MP:0005387 9.86 CD40LG CD79A HPRT1 IL4 UNG AICDA
4 neoplasm MP:0002006 9.55 AICDA BTK CD79A HPRT1 UNG
5 normal MP:0002873 9.43 AICDA CD40 CD79A HPRT1 IL4 UNG
6 renal/urinary system MP:0005367 9.02 CD40 CD40LG CD79A HPRT1 IL4

Drugs & Therapeutics for Immunodeficiency, X-Linked, with Hyper-Igm

Drugs for Immunodeficiency, X-Linked, with Hyper-Igm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 60)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3
2 gamma-Globulins Phase 4,Phase 3,Phase 2
3 Immunoglobulins Phase 4,Phase 3
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
5 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Melphalan Approved Phase 2 148-82-3 4053 460612
9 Thiotepa Approved Phase 2 52-24-4 5453
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
13 Vaccines Phase 2
14 Alkylating Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Immunosuppressive Agents Phase 2
18 Cyclosporins Phase 2
19 Methylprednisolone acetate Phase 2
20 Methylprednisolone Hemisuccinate Phase 2
21 Prednisolone acetate Phase 2
22 Prednisolone hemisuccinate Phase 2
23 Prednisolone phosphate Phase 2
24
Busulfan Approved, Investigational 55-98-1 2478
25
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
26
Mesna Approved 3375-50-6 598
27
Vidarabine Approved 24356-66-9 32326 21704
28
Etoposide Approved 33419-42-0 36462
29
Methotrexate Approved 1959-05-2, 59-05-2 126941
30
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
31
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32
leucovorin Approved, Nutraceutical 58-05-9 143 6006
33 Anti-Infective Agents
34 Antirheumatic Agents
35 Antiviral Agents
36 Protective Agents
37 Antiemetics
38 Antifungal Agents
39 Anti-Inflammatory Agents
40 Antilymphocyte Serum
41 Antineoplastic Agents, Hormonal
42 Antineoplastic Agents, Phytogenic
43 Autonomic Agents
44 Calcineurin Inhibitors
45 Complement System Proteins
46 Dermatologic Agents
47 Etoposide phosphate
48 Folic Acid Antagonists
49 Gastrointestinal Agents
50 glucocorticoids

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
2 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
3 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
4 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
5 Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
6 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
7 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
8 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
9 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
10 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
11 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
12 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Immunodeficiency, X-Linked, with Hyper-Igm

Genetic Tests for Immunodeficiency, X-Linked, with Hyper-Igm

Genetic tests related to Immunodeficiency, X-Linked, with Hyper-Igm:

id Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 1 29

Anatomical Context for Immunodeficiency, X-Linked, with Hyper-Igm

MalaCards organs/tissues related to Immunodeficiency, X-Linked, with Hyper-Igm:

39
B Cells, Liver, Lymph Node, Bone, T Cells, Bone Marrow

Publications for Immunodeficiency, X-Linked, with Hyper-Igm

Variations for Immunodeficiency, X-Linked, with Hyper-Igm

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, X-Linked, with Hyper-Igm:

71 (show all 32)
id Symbol AA change Variation ID SNP ID
1 CD40LG p.Met36Arg VAR_007513 rs104894774
2 CD40LG p.Ala123Glu VAR_007514 rs104894778
3 CD40LG p.Val126Ala VAR_007515
4 CD40LG p.Trp140Cys VAR_007517
5 CD40LG p.Trp140Gly VAR_007518 rs104894777
6 CD40LG p.Trp140Arg VAR_007519
7 CD40LG p.Gly144Glu VAR_007520
8 CD40LG p.Leu155Pro VAR_007521 rs104894769
9 CD40LG p.Thr211Asn VAR_007522
10 CD40LG p.Gly227Val VAR_007524 rs104894768
11 CD40LG p.Leu231Ser VAR_007526
12 CD40LG p.Ala235Pro VAR_007527 rs104894771
13 CD40LG p.Thr254Met VAR_007528 rs193922136
14 CD40LG p.Thr147Asn VAR_017922
15 CD40LG p.Tyr170Cys VAR_017923 rs756468554
16 CD40LG p.Leu258Ser VAR_017924
17 CD40LG p.Gly38Arg VAR_017925
18 CD40LG p.His125Arg VAR_017926
19 CD40LG p.Gln174Arg VAR_017927
20 CD40LG p.Gly257Ser VAR_017928
21 CD40LG p.Gly116Arg VAR_017929
22 CD40LG p.Gly116Ser VAR_017930
23 CD40LG p.Val126Asp VAR_017931
24 CD40LG p.Lys143Thr VAR_017932
25 CD40LG p.Ala173Asp VAR_017933
26 CD40LG p.Thr176Ile VAR_017934
27 CD40LG p.Leu195Pro VAR_017935
28 CD40LG p.Ala208Asp VAR_017936
29 CD40LG p.His224Tyr VAR_017937
30 CD40LG p.Gly226Ala VAR_017938
31 CD40LG p.Val237Glu VAR_017939
32 CD40LG p.Gly257Asp VAR_017940

ClinVar genetic disease variations for Immunodeficiency, X-Linked, with Hyper-Igm:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 CD40LG NM_000074.2(CD40LG): c.703G> C (p.Ala235Pro) single nucleotide variant Pathogenic rs104894771 GRCh37 Chromosome X, 135741491: 135741491
2 CD40LG NM_000074.2(CD40LG): c.680G> T (p.Gly227Val) single nucleotide variant Pathogenic rs104894768 GRCh37 Chromosome X, 135741468: 135741468
3 CD40LG NM_000074.2(CD40LG): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic rs104894769 GRCh37 Chromosome X, 135741252: 135741252
4 CD40LG CD40LG, THR211ASP undetermined variant Pathogenic
5 CD40LG NM_000074.2(CD40LG): c.107T> G (p.Met36Arg) single nucleotide variant Pathogenic rs104894774 GRCh37 Chromosome X, 135730514: 135730514
6 CD40LG NM_000074.2(CD40LG): c.419G> A (p.Trp140Ter) single nucleotide variant Pathogenic rs104894775 GRCh37 Chromosome X, 135741207: 135741207
7 CD40LG NM_000074.2(CD40LG): c.418T> G (p.Trp140Gly) single nucleotide variant Pathogenic/Likely pathogenic rs104894777 GRCh37 Chromosome X, 135741206: 135741206
8 CD40LG CD40LG, 63-BP DEL deletion Pathogenic
9 CD40LG CD40LG, 8-BP DEL deletion Pathogenic
10 CD40LG CD40LG, 10-BP DEL deletion Pathogenic
11 CD40LG NM_000074.2(CD40LG): c.368C> A (p.Ala123Glu) single nucleotide variant Pathogenic rs104894778 GRCh37 Chromosome X, 135738536: 135738536
12 CD40LG CD40LG, 1-BP INS, TTT-TTTT, FS84TER insertion Pathogenic
13 CD40LG CD40LG, ALU INS, EX1 insertion Pathogenic
14 CD40LG NM_000074.2(CD40LG): c.189delT (p.Phe63Leufs) deletion Likely pathogenic rs193922134 GRCh37 Chromosome X, 135732457: 135732457
15 CD40LG NM_000074.2(CD40LG): c.31C> T (p.Arg11Ter) single nucleotide variant Pathogenic rs193922135 GRCh37 Chromosome X, 135730438: 135730438
16 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh37 Chromosome X, 135741549: 135741549

Expression for Immunodeficiency, X-Linked, with Hyper-Igm

Search GEO for disease gene expression data for Immunodeficiency, X-Linked, with Hyper-Igm.

Pathways for Immunodeficiency, X-Linked, with Hyper-Igm

Pathways related to Immunodeficiency, X-Linked, with Hyper-Igm according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 AICDA CD40 CD40LG IL4
2
Show member pathways
12.27 BTK CD79A IGHE IL4
3 12.15 AICDA BTK CD40LG CD79A IL4
4
Show member pathways
11.99 BTK CD40 CD40LG CD79A IGHE IL4
5
Show member pathways
11.97 CD40 CD40LG IL4
6
Show member pathways
11.68 BTK CD79A IGHE
7 11.61 BTK CD40 CD40LG
8 11.43 CD40 CD40LG IL4
9 11.26 AICDA CD40LG IGHE IL4
10 11.08 CD40 CD40LG
11 11.06 CD40 CD40LG IL4
12 10.97 CD40 CD40LG IL4
13 10.92 BTK CD40LG IL4
14 10.67 AICDA BTK CD40 CD40LG CD79A UNG

GO Terms for Immunodeficiency, X-Linked, with Hyper-Igm

Cellular components related to Immunodeficiency, X-Linked, with Hyper-Igm according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 CD40 CD40LG CD79A IGHE IL4

Biological processes related to Immunodeficiency, X-Linked, with Hyper-Igm according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.81 CD40 CD40LG IGHE IL4
2 regulation of immune response GO:0050776 9.73 CD40 CD40LG IL4
3 immune system process GO:0002376 9.67 BTK CD40 CD79A
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.65 BTK CD40 CD40LG
5 positive regulation of B cell proliferation GO:0030890 9.57 CD40 IL4
6 positive regulation of interleukin-12 production GO:0032735 9.55 CD40 CD40LG
7 positive regulation of interleukin-10 production GO:0032733 9.54 CD40LG IL4
8 defense response to protozoan GO:0042832 9.52 CD40 IL4
9 B cell receptor signaling pathway GO:0050853 9.5 BTK CD79A IGHE
10 somatic hypermutation of immunoglobulin genes GO:0016446 9.46 AICDA UNG
11 isotype switching GO:0045190 9.43 AICDA CD40LG
12 positive regulation of endothelial cell apoptotic process GO:2000353 9.4 CD40 CD40LG
13 positive regulation of isotype switching to IgG isotypes GO:0048304 9.37 CD40 IL4
14 B cell proliferation GO:0042100 9.33 CD40 CD40LG CD79A
15 regulation of immunoglobulin secretion GO:0051023 9.26 CD40 CD40LG
16 B cell differentiation GO:0030183 9.26 AICDA CD40LG CD79A IL4
17 B cell activation GO:0042113 8.92 BTK CD40 CD79A IL4

Sources for Immunodeficiency, X-Linked, with Hyper-Igm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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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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46 NCI
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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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