MCID: OMN001
MIFTS: 60

Omenn Syndrome malady

Immune, Blood, Genetic categories

Summaries for Omenn Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (scid) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum ige levels. patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of scid. in this syndrome, the scid is associated with low igg, iga, and igm and the virtual absence of b cells. there is an elevated number of t cells, but their function is impaired. omenn syndrome has been found to be caused by mutations in the rag1 or rag2 genes. additional causative genes have been identified. early recognition of this condition is important for genetic counseling and early treatment. if left untreated, omenn syndrome is fatal. the prognosis may be improved  with early diagnosis and treatment with  compatible bone marrow or cord blood stem cell transplantation. last updated: 3/21/2012

MalaCards: Omenn Syndrome, also known as severe combined immunodeficiency with hypereosinophilia, is related to gamma chain deficiency and severe combined immunodeficiency, b cell-negative, and has symptoms including autosomal recessive inheritance, failure to thrive/difficulties for feeding in infancy/growth delay and hypothyroidy. An important gene associated with Omenn Syndrome is RAG2 (recombination activating gene 2), and among its related pathways are Th17 Differentiation and Regulation of IFNG signaling. The drug pegademase bovine and the compounds rolipram and indomethacin have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and bone marrow, and related mouse phenotypes are respiratory system and skeleton.

Disease Ontology:8 A combined t cell and b cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (rag1 and rag2), affecting circulating levels of both b-cells and t-cells.

Wikipedia:64 Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with mutations in... more...

Description from OMIM:47 603554

Aliases & Classifications for Omenn Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Immune, Blood


Characteristics (Orphanet epidemiological data):

49
omenn syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

omenn syndrome 8 9 43 20 47 10 45 49
severe combined immunodeficiency with hypereosinophilia 43
reticuloendotheliosis familial with eosinophilia 43
combined immunodeficiency with hypereosinophilia 49
histiocytic medullary reticulosis 61
severe combined immunodeficiency 61


External Ids:

Disease Ontology8 DOID:0060010
OMIM47 603554
ICD10 via Orphanet26 D81.8
ICD1025 D81

Related Diseases for Omenn Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Omenn Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 273)
idRelated DiseaseScoreTop Affiliating Genes
1gamma chain deficiency31.2ADA, IL2RG, IL4, IL7R
2severe combined immunodeficiency, b cell-negative30.5RAG1, RAG2
3arthritis30.5IFNG, IL1RN, IL4, RAG2
4t-cell leukemia30.2IL5, RAG1, RAG2, ADA
5tuberculosis30.2IFNG, IFNGR1, IL4, ADA
6graves' disease30.2IFNG, AIRE, IL1RN, IL4
7hepatitis c30.2IL4, CYP1A2, IFNG
8burkitt's lymphoma30.2DCLRE1C, LIG4, CYP1A2, IL7R, IL4, RAG1
9primary immunodeficiency disease30.1LIG4
10alopecia30.0AIRE
11adenocarcinoma30.0ADA, CYP1A2
12autoimmune thyroiditis30.0IL4, AIRE, IFNG
13acute graft versus host disease30.0IFNG, IL1RN, IL4
14pulmonary tuberculosis30.0ADA, IL4, IFNGR1, IFNG
15malignant histiocytosis10.8
16zap70-related severe combined immunodeficiency10.6
17achondroplasia and severe combined immunodeficiency10.6
18acute leukemia10.5
19severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
20n syndrome10.4
21graft versus host disease10.4
22b cell deficiency10.4
23severe combined immunodeficiency with sensitivity to ionizing radiation10.4
24severe combined immunodeficiency, athabascan type10.4
25t cell deficiency10.3
26immunodeficiency 810.3
27severe combined immunodeficiency due to lck deficiency10.3
28letterer-siwe disease10.3
29splenic infarction10.3
30cytomegalic inclusion disease10.3
31virus associated hemophagocytic syndrome10.3
32hematopoietic stem cell transplantation10.3
33digeorge syndrome10.3
34agammaglobulinemia10.3
35severe combined immunodeficiency due to dna-pkcs deficiency10.3
36char syndrome10.2
37multiple intestinal atresia10.2
38trachoma10.2
39x-linked sideroblastic anemia with ataxia10.2
40cd3zeta deficiency10.2
41cd3delta deficiency10.2
42t lymphocyte deficiency10.2
43autoimmune hemolytic anemia10.2
44hypersplenism10.2
45mhc class ii deficiency10.2
46purine nucleoside phosphorylase deficiency10.2
47thyroiditis10.2
48autoimmune myocarditis10.2
49bare lymphocyte syndrome10.2
50b-cell lymphomas10.2

Graphical network of the top 20 diseases related to Omenn Syndrome:



Diseases related to omenn syndrome

Clinical Features for Omenn Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

603554

Clinical synopsis from OMIM:

603554

Symptoms:

49 (show all 28)
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypothyroidy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • malabsorption/chronic diarrhea/steatorrhea
  • fever/chilling
  • anaemia
  • dry/squaly skin/exfoliation
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • cutaneous edema
  • metaphyseal anomaly
  • thick skin/pachydermia/orange skin
  • autoimmunity/autoimmune reaction/autoantibodies
  • nephrotic syndrome
  • thyroiditis
  • lymphoma
  • sepsis severe/septicemia
  • absent/decreased/thin eyebrows
  • lymphadenopathy/polyadenopathies
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • dysplastic/thick/grooved fingernails
  • alopecia
  • eosinophils anomalies/hypereosinophilia
  • hyperleukocytosis/leukocytosis
  • severe combined immune deficiency syndrome/scid
  • lymphocytes anomalies

Drugs & Therapeutics for Omenn Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Omenn Syndrome

Drug clinical trials:

Search ClinicalTrials for Omenn Syndrome

Search NIH Clinical Center for Omenn Syndrome

Search CenterWatch for Omenn Syndrome

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Omenn Syndrome

Sources:
20GeneTests
See all sources

Genetic tests related to Omenn Syndrome:

id Genetic test Affiliating Genes
1 Omenn Syndrome20 RAG2

Anatomical Context for Omenn Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Omenn Syndrome:

33
Skin, Lymph node, Bone marrow, Thymus, Nk cells, T cells, B cells

Animal Models for Omenn Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Omenn Syndrome

Sources:
51PubMed
See all sources

Articles related to Omenn Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
First reported case of Omenn syndrome in a patient with reticular dysgenesis. (23014587)
2013
2
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. (24290292)
2013
3
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome. (24332219)
2013
4
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. (22723555)
2012
5
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. (22882342)
2012
6
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (21624848)
2011
7
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (21771083)
2011
8
Omenn syndrome does not live by V(D)J recombination alone. (22001740)
2011
9
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. (20958863)
2010
10
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (20547828)
2010
11
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. (19609312)
2010
12
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. (20234091)
2010
13
Defect of regulatory T cells in patients with Omenn syndrome. (20109747)
2010
14
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. (19767069)
2009
15
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. (18822103)
2009
16
Matched unrelated bone marrow transplant for Omenn syndrome. (18854956)
2009
17
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. (19246248)
2009
18
Omenn syndrome due to mutation of the RAG2 gene. (19470080)
2009
19
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (19912631)
2009
20
Omenn syndrome with mutation in RAG1 gene. (19011808)
2008
21
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
22
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. (18559672)
2008
23
Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome. (18592361)
2008
24
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. (18056378)
2007
25
Murine models of Omenn syndrome. (17476351)
2007
26
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (17572155)
2007
27
Exfoliative erythroderma, recurrent infections, generalized lymphadenopathy and hepatosplenomegaly in a newborn: Omenn syndrome. (17535207)
2007
28
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. (17476358)
2007
29
Bone marrow transplantation without conditioning regimen in Omenn syndrome: a case report. (17976129)
2007
30
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. (17598841)
2007
31
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. (17075247)
2006
32
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. (16763459)
2006
33
Omenn syndrome in an infant with IL7RA gene mutation. (16492442)
2006
34
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
35
Omenn syndrome due to ARTEMIS mutations. (15731174)
2005
36
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. (15908971)
2005
37
Cardiac thrombus in Omenn syndrome. (16088419)
2005
38
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. (15870023)
2005
39
Non-myeloablative stem cell transplantation for severe combined immunodeficiency--Omenn syndrome. (15086425)
2004
40
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. (15025726)
2004
41
Fatal late-onset EBV-associated post transplant lymphoproliferative disease after umbilical cord blood transplantation due to persistent mixed chimerism and severe delay in T-cell recovery in a patient with Omenn's syndrome. (15195075)
2004
42
Reviewing Omenn syndrome. (11795679)
2001
43
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. (11313270)
2001
44
A preterm baby with Omenn syndrome. (11014463)
2000
45
Prenatal diagnosis of RAG-deficient Omenn syndrome. (10701853)
2000
46
Omenn syndrome: a disorder of Rag1 and Rag2 genes. (10226883)
1999
47
Partial V(D)J recombination activity leads to Omenn syndrome. (9630231)
1998
48
In vitro cell death of activated lymphocytes in Omenn's syndrome. (9394797)
1997
49
T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). (8419187)
1993
50
Clinical and immune recovery from Omenn syndrome after bone marrow transplantation. (2647948)
1989

Genetic Variations for Omenn Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Omenn Syndrome:

63 (show all 21)
id Symbol AA change Variation SNP ID
1DCLRE1Cp.His35AspVAR_023077
2RAG1p.Arg396CysVAR_008886rs104894289
3RAG1p.Arg396HisVAR_008887rs104894291
4RAG1p.Asp429GlyVAR_008888rs104894292
5RAG1p.Arg561HisVAR_008889rs104894284
6RAG1p.Arg561CysVAR_008890rs104894285
7RAG1p.Arg737HisVAR_008891rs104894286
8RAG1p.Leu885ArgVAR_008893rs199474691
9RAG1p.Tyr912CysVAR_008894rs104894290
10RAG1p.Cys328TyrVAR_025971rs121918571
11RAG1p.Arg396LeuVAR_025972rs104894291
12RAG1p.Ser401ProVAR_025973rs199474682
13RAG1p.Met435ValVAR_025976rs141524540
14RAG1p.Arg559SerVAR_025981rs199474681
15RAG1p.Arg624CysVAR_025982rs199474688
16RAG1p.Glu669GlyVAR_025983rs199474689
17RAG1p.Arg975GlnVAR_025987rs150739647
18RAG1p.Leu454GlnVAR_067274rs199474677
19RAG1p.Arg699TrpVAR_067276rs199474676
20RAG2p.Cys41TrpVAR_008895
21RAG2p.Met285ArgVAR_008896

Expression for genes affiliated with Omenn Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Omenn Syndrome

Search GEO for disease gene expression data for Omenn Syndrome.

Pathways for genes affiliated with Omenn Syndrome

Sources:
53R&D Systems, 54Reactome, 52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

Pathways related to Omenn Syndrome according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3IL2RG
29.9IFNG, IFNGR1
3
Hide members
9.8IL2RG, IL7R, IL5
49.8IL2RG, IL4, IL5
59.8IL5, IL7R, IL4
6
Hide members
9.7IL2RG, IL4, IFNG
79.7IL4, IL5, IFNG
8
Hide members
9.7IFNG, IL5, IL4
99.7IFNG, IL5, IL4
109.7IFNG, IL5, IL4
11
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
9.6IFNG, IL1RN, IL4
12
Immune response Bacterial infections in normal airways
Hide members
9.6IL1RN, IFNGR1, IFNG
13
Hide members
9.6IL2RG, IL7R, IL5, IFNGR1
14
Hide members
9.5IL1RN, IL5, IL7R, IL2RG
159.5IFNG, IL5, IL4, IL2RG
169.4IGHE, IL5, IL4, IL2RG
17
Hide members
9.4IL2RG, IL4, IFNGR1, IFNG
18
Hide members
9.4IL2RG, IL4, IFNGR1, IFNG
19
Hide members
9.4IFNG, IFNGR1, IL5, IL4
209.3ADA, RAG2, IL2RG, IL7R, AIRE, DCLRE1C
21
Hide members
9.2IFNG, IFNGR1, IL5, IL4, IL2RG
229.0IFNG, IFNGR1, IL5, IL7R, IL4, IL2RG
23
Hide members
8.9IFNG, IFNGR1, IL1RN, IL5, IL7R, IL2RG
24
Hide members
8.8IFNG, IFNGR1, IGHE, IL5, IL4, IL2RG
25
Hide members
8.6IFNG, IFNGR1, IGHE, IL1RN, IL5, IL7R

Compounds for genes affiliated with Omenn Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 2BitterDB, 50PharmGKB, 24HMDB
See all sources

Compounds related to Omenn Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1rolipram45 60 2912.7ADA
2indomethacin45 60 29 1113.7IL5
3hydrocortisone45 2 60 1113.6IGHE
4amphotericin b4510.4ADA, IL1RN
5gm-csf45 2911.4IFNG
6tolnaftate4510.3IL5, IL4
7loteprednol45 1111.3IL5, IL4
8prednisolone45 29 1112.2IL5, IGHE
9Edetic Acid1110.2CYP1A2, ADA
10mometasone45 1111.1IL5, IL4
11omalizumab45 1111.1IGHE, IL5, IL4
12ovomucoid4510.0IL4, IL5, IGHE
13oxatomide4510.0IGHE, CYP1A2, IL5
14glatiramer acetate45 1111.0IL4, IL5, IFNG
15il-124510.0IFNG, IL5, IL4
16nedocromil sodium4510.0IGHE, IL5, IL4
17clarithromycin45 1111.0CYP1A2, IL1RN, IL5
18itraconazole45 1111.0IGHE, IL5, IL4
19caffeine45 50 29 2 11 2415.0CYP1A2, RAG1, RAG2, ADA
20desloratadine45 1111.0IGHE, CYP1A2, IL4
21imiquimod45 29 60 1113.0IFNG, CYP1A2, IL5
22montelukast45 50 29 1113.0IGHE, IL5, IL4
23con a459.9IL4, IL5, IFNG
24polymyxin b459.9IFNG, IL1RN, IL4
25lidocaine45 29 1111.8IL5, CYP1A2, IGHE
26praziquantel45 1110.8IGHE, CYP1A2, IL5, IL4
27azelastine45 1110.8IL4, IL5, CYP1A2, IGHE
28neopterin459.8IFNG, IL1RN, IL4, ADA
29il 10459.8IFNG, IL1RN, IL5, IL4
30budesonide45 50 1111.7IL4, IL5, IGHE, IFNG
31fluticasone propionate45 50 60 1112.7IFNG, IGHE, IL5, IL4
32polyinosinic-polycytidylic acid459.7IL4, IL5, IFNG
33propofol45 50 1111.7IL1RN, CYP1A2, IGHE
34tarc459.7IL4, IL5, IGHE, IFNG
35pentoxifylline45 1110.7IL4, IL1RN, CYP1A2, IFNG
36ionomycin459.7IFNG, IL5, IL7R, IL4, RAG1
37infliximab45 50 1111.7IFNG, IGHE, IL1RN, IL4
38herbimycin a45 6010.7IFNG, IL5, IL7R, IL4
39poly(i-c)459.6IFNG, IL5, IL4
40sb 20358045 6010.5IFNG, AIRE, IL1RN, IL5, IL4
41ivig459.5IFNG, IGHE, IL1RN, IL5, IL4
42isoproterenol45 1110.5IGHE, IL5, IL4, ADA
43methylcellulose459.4IL4, IL5, IFNG
44histamine45 29 2411.2IFNG, IGHE, IL1RN, IL5, IL4, ADA
45allergens459.1IFNG, FABP12, IGHE, IL1RN, IL5, IL4
46cyclosporin a45 29 6011.1IFNG, IGHE, IL1RN, IL5, IL4, IL2RG
47cysteine458.9IFNG, FABP12, IL1RN, IL5, IL4, RAG1
48vegf458.8IGHE, IL1RN, IL5, IL4, ADA, IFNG
49retinoic acid45 249.7IFNG, FABP12, IGHE, CYP1A2, IL1RN, IL5
50dexamethasone45 50 29 1111.4IFNG, FABP12, IGHE, CYP1A2, IL1RN, IL5

GO Terms for genes affiliated with Omenn Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Omenn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3ADA, IL2RG, IL4, IL7R, IFNG

Biological processes related to Omenn Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:00233110.3RAG1, RAG2
2interleukin-7-mediated signaling pathwayGO:03811110.3IL2RG, IL7R
3negative regulation of thymocyte apoptotic processGO:07024410.3ADA, RAG1
4V(D)J recombinationGO:03315110.2LIG4, RAG1, RAG2
5T cell differentiation in thymusGO:03307710.2LIG4, RAG1, RAG2
6positive regulation of T cell differentiation in thymusGO:03308910.1ADA, IL7R
7positive regulation of isotype switching to IgG isotypesGO:04830410.0IL4, IFNG
8positive regulation of B cell proliferationGO:03089010.0ADA, IL4, IL5
9B cell differentiationGO:03018310.0RAG2, RAG1, IL4, DCLRE1C
10positive regulation of MHC class II biosynthetic processGO:04534810.0IFNG, IL4
11regulation of interferon-gamma-mediated signaling pathwayGO:0603349.9IFNGR1, IFNG
12positive regulation of chemokine biosynthetic processGO:0450809.8IL4, IFNG
13defense response to protozoanGO:0428329.6IL4, IFNG
14immune responseGO:0069558.8RAG1, IL2RG, IL4, IL7R, IL5, IL1RN

Molecular functions related to Omenn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:00491710.1IL2RG, IL7R

Products for genes affiliated with Omenn Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Omenn Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet