BSS
MCID: BRN019
MIFTS: 59

Bernard-Soulier Syndrome (BSS) malady

Blood diseases category

Summaries for Bernard-Soulier Syndrome

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare... more...

MalaCards: Bernard-Soulier Syndrome, also known as bernard soulier syndrome, is related to glanzmann's thrombasthenia and von willebrand's disease. An important gene associated with Bernard-Soulier Syndrome is GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Gamma-carboxylation, transport, and amino-terminal cleavage of proteins and Common Pathway. The compounds acetaminophen and warfarin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, myeloid and heart, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Description from OMIM:46 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

bernard-soulier syndrome 8 42 10 44 60
bernard soulier syndrome 8 22
giant platelet syndrome 8 42
hemorrhagic dystrophic thrombocytopenia 8
hemorrhagiparous thrombocytic dystrophy 42
deficiency of platelet glycoprotein 1b 42
bernard - soulier thrombopathy 8
thrombopathy, bernard-soulier 8
giant platelet disease 42
bss 42


External Ids:

Disease Ontology8 DOID:2217
NCIt39 C84595
MeSH34 D001606

Related Diseases for Bernard-Soulier Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome Type a Bernard-Soulier Syndrome Type B
Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type A2

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

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.0ITGB3, ITGA2B
2von willebrand's disease30.8GP1BA, F2, VWF, F11, ITGA2B, F9
3thrombocytopenia30.7ITGB3, ITGA2B, ITGA2, MYH9, RECK, FGA
4acute leukemia30.6THPO, FGA, MYH9
5myeloid leukemia30.6THPO, MYH9, NEU1
6hepatitis30.6F9, F8, F2, F2R
7atherosclerosis30.5ITGB3, ITGA2B, RECK, FGA, VWF, F2R
8leukemia30.5F9, F8, ITGB3, ITGA2B, F11, MYH9
9purpura30.3THPO
10factor xii deficiency30.3F9, VWF
11hepatitis a30.3F2, F8
12blood platelet disease30.3F8, VWF, F2R
13vasculitis30.3FGA, VWF, F2
14antiphospholipid syndrome30.3F8, VWF, F2
15factor xi deficiency30.3F9, F8, F11, F2
16hepatitis c30.3F9, F8, NEU1, F2, F2R, THPO
17breast cancer30.3F9, ITGB3, ITGA2, NEU1, RECK, GP1BA
18myocardial infarction30.3F9, F8, ITGB3, ITGA2B, ITGA2, F11
19bernard-soulier syndrome type c10.6
20bernard-soulier syndrome type b10.6
21angiodysplasia10.5
22bernard-soulier syndrome, type a210.5
23bernard-soulier syndrome type a10.5
24acute myeloid leukemia10.4
25bernard-soulier syndrome, type a110.4
26gaucher's disease10.2
27digeorge syndrome10.2
28autoimmune hepatitis10.2
29n syndrome10.2
30hermansky-pudlak syndrome10.2
31drug dependence10.2
32urticaria10.2
33polymicrogyria10.2
34medich giant platelet syndrome10.2
35brown-sequard syndrome10.1
36brooke-spiegler syndrome10.0
37bronchitis10.0
38endophthalmitis10.0
39hemorrhagic disease10.0F9
40cerebrovascular disease10.0RECK
41obesity10.0F2R
42afibrinogenemia10.0FGA
43dilated cardiomyopathy10.0FGA
44hemolytic-uremic syndrome10.0VWF
45colorectal cancer10.0RECK
46lupus erythematosus10.0F2
47hypertension10.0F2
48splenic sequestration10.0THPO
49amyloidosis10.0F9
50uremia10.0VWF

Graphical network of the top 20 diseases related to Bernard-Soulier Syndrome:



Diseases related to bernard-soulier syndrome

Clinical Features for Bernard-Soulier Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

153670,231200

Drugs & Therapeutics for Bernard-Soulier Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bernard-Soulier Syndrome

Drug clinical trials:

Search ClinicalTrials for Bernard-Soulier Syndrome

Search NIH Clinical Center for Bernard-Soulier Syndrome

Search CenterWatch for Bernard-Soulier Syndrome

Genetic Tests for Bernard-Soulier Syndrome

About this section
Sources:
22GTR
See all sources

Genetic tests related to Bernard-Soulier Syndrome:

id Genetic test Affiliating Genes
1 Bernard Soulier Syndrome22

Anatomical Context for Bernard-Soulier Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

32
Whole blood, Myeloid, Heart, Breast

Animal Models for Bernard-Soulier Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.3ITGA2B, FGA, F2, F2R
2MP:00053818.6F2R, F2, VWF, FGA, ITGA2B, ITGB3
3MP:00053848.3NEU1, MYH9, VWF, GP1BA, F2, F2R
4MP:00053707.8F9, ITGB3, NEU1, F11, RECK, FGA
5MP:00053856.7F9, ITGB3, ITGA2B, NEU1, F11, MYH9
6MP:00053876.4F9, F8, ITGB3, ITGA2B, NEU1, F11
7MP:00107686.2F9, F8, ITGB3, NEU1, F11, MYH9
8MP:00053975.6THPO, F9, F8, ITGB3, ITGA2B, ITGA2
9MP:00053765.0NEU1, ITGA2, ITGA2B, ITGB3, F8, F9

Publications for Bernard-Soulier Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Bernard-Soulier Syndrome:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein IbI^ mutation. (24051937)
2014
2
Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. (23909788)
2013
3
Bernard-Soulier syndrome caused by a hemizygous GPIbI^ mutation and 22q11.2 deletion. (23566026)
2013
4
Bernard-Soulier syndrome: an update. (23929303)
2013
5
Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. (21085964)
2011
6
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. (19067792)
2009
7
Flow cytometry as a tool in the diagnosis of Bernard-Soulier syndrome in Brazilian patients. (19459130)
2009
8
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant. (18815197)
2008
9
Use of recombinant factor VIIa in the management and prophylaxis of bleeding episodes in two patients with Bernard-Soulier syndrome. (17141823)
2007
10
Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome. (17083647)
2007
11
Bernard-Soulier syndrome in pregnancy. (16706937)
2006
12
Molecular genetics and transfusion management in a child with Bernard Soulier syndrome. (16788318)
2006
13
An acquired form of Bernard Soulier syndrome associated with acute myeloid leukemia. (16047060)
2005
14
Use of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard-Soulier syndrome. (16044315)
2005
15
A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). (16268478)
2005
16
Course of pregnancy and birth in a patient with Bernard-Soulier syndrome--a case report. (15914354)
2005
17
Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome. (15567653)
2004
18
A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. (15351858)
2004
19
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (14510954)
2003
20
Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. (12945881)
2003
21
Genetic abnormalities of Bernard-Soulier syndrome. (12463594)
2002
22
A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies. (12529755)
2002
23
Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? (11453587)
2001
24
Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. (11776304)
2001
25
A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form. (11816714)
2001
26
Molecular pathogenesis of Bernard-Soulier syndrome. (10805283)
2000
27
Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. (10706630)
2000
28
Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation. (10996832)
2000
29
Antepartum diagnosis of fetal intracranial hemorrhage due to maternal Bernard-Soulier syndrome. (10546740)
1999
30
Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. (10089893)
1999
31
1-Deamino (8-D-arginine) vasopressin infusion partially corrects platelet deposition on subendothelium in Bernard-Soulier syndrome: the role of factor VIII. (16801084)
1999
32
Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (9579882)
1998
33
Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene. (9241731)
1997
34
Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome. (8608225)
1996
35
Partial expression of GP Ib measured by flow cytometry in two patients with Bernard-Soulier syndrome. (7900092)
1994
36
Atherosclerosis and unstable angina in Bernard-Soulier syndrome. (1575209)
1992
37
Glycoprotein Ib bioassays. Activity levels in Bernard-Soulier syndrome and in stored blood bank platelets. (2021317)
1991
38
Aggregation to botrocetin in some patients with Bernard-Soulier syndrome. (2024644)
1991
39
Pregnancy and delivery in Bernard-Soulier syndrome. (6539555)
1984
40
Morphometric analysis of platelets in Bernard-Soulier syndrome: size and configuration in patients and carriers. (6495263)
1984
41
Studies in a case of Bernard-Soulier syndrome. (6404105)
1983
42
Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. (6822670)
1983
43
Platelet glycoproteins of Bernard-Soulier syndrome: analysis by isoelectric focusing and sodium dodecyl sulfate polyacrylamide gel electrophoresis in a two-dimensional technique. (7157231)
1982
44
Studies on quinine- and quinidine-dependent antibodies against platelets and their reaction with platelets in the Bernard-Soulier syndrome. (7049220)
1982
45
Hemostatic defects in the Bernard-Soulier syndrome. Presentation of one case and literature review. (6455979)
1981
46
Crossed immunoelectrophoresis of human platelet membranes. Diminished major antigen in Glanzmann's thrombasthenia and Bernard-Soulier syndrome. (7372679)
1980
47
Bernard-Soulier syndrome (a case report). (536023)
1979
48
Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome. (690191)
1978
49
Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. (1083883)
1976
50
The Bernard-Soulier syndrome: hereditary giant platelet disease. (1198227)
1975

Genetic Variations for Bernard-Soulier Syndrome

About this section

Expression for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome

Search GEO for disease gene expression data for Bernard-Soulier Syndrome.

Pathways for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
53Reactome, 49PharmGKB, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems
See all sources

Pathways related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9F2, F9
2
Hide members
9.9F2, FGA
39.4ITGA2, ITGA2B, ITGB3
49.4ITGA2, ITGA2B, ITGB3
5
Hide members
9.4ITGB3, ITGA2B, ITGA2
6
Hide members
9.1ITGB3, ITGA2B, FGA, VWF
7
Hide members
9.0ITGB3, ITGA2B, ITGA2, VWF
8
Hide members
9.0MYH9, ITGA2, ITGA2B, ITGB3
9
Hide members
9.0ITGB3, ITGA2B, ITGA2, MYH9
10
Hide members
9.0ITGB3, ITGA2B, ITGA2, MYH9
11
Hide members
8.9ITGB3, ITGA2B, ITGA2, F2R, THPO
128.8ITGB3, ITGA2B, ITGA2, VWF, F2R
138.7VWF, GP9, GP1BA, GP5, GP1BB
14
Hide members
8.5ITGB3, ITGA2B, ITGA2, F2, F2R, THPO
15
Hide members
8.5F8, ITGB3, ITGA2B, FGA, VWF
16
Hide members
8.5ITGB3, ITGA2B, ITGA2, FGA, F2, F2R
17
Hide members
8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
18
Hide members
8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
198.3GP1BB, GP5, GP1BA, GP9, VWF, ITGA2
20
Hide members
8.2ITGA2B, ITGA2, FGA, VWF, F2, F2R
21
Hide members
8.1F9, F8, ITGB3, ITGA2B, ITGA2, F11
22
Hide members
8.0F9, F8, F11, FGA, VWF, F2
237.7ITGB3, ITGA2B, ITGA2, GP9, GP1BA, GP5
24
Hide members
7.6THPO, F2R, F2, GP1BB, GP5, GP1BA
25
Hide members
7.4F9, F8, ITGB3, ITGA2B, ITGA2, F11
26
Hide members
7.3VWF, FGA, ITGA2, ITGA2B, ITGB3, GP9
27
Hide members
7.1VWF, FGA, ITGA2B, ITGB3, GP9, GP1BA
286.9F2R, F2, GP1BB, GP5, GP9, VWF
29
Hide members
6.8F9, F2, GP1BB, GP5, GP1BA, GP9

Compounds for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
44Novoseek, 2BitterDB, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 125)
idCompoundScoreTop Affiliating Genes
1acetaminophen44 2 49 11 2414.2F9
2warfarin44 49 11 2413.0FGA, F9, VWF
3bivalirudin44 1110.8F2R, F2, FGA
4ppack449.7F2R, FGA, VWF, F2
5estrogen449.7F9, F8, THPO
611-dehydrothromboxane b2449.7F2, VWF, FGA
7glucose449.7F2R, GP1BA, RECK
8tributylphosphate449.6F9, F8, VWF
9guanidino449.6ITGA2, NEU1, F2R
10rfviii449.6VWF, F9, F8
11adp44 28 2411.6ITGA2B, ITGA2, FGA, GP9, F2R
12kaolin449.5F9, F8, F2
13Coagulation Factor IX119.4F2, F11, F8
14thromboxane44 2410.4ITGA2, FGA, VWF, F2R, THPO
15dermatan sulfate449.4F11, F9, F2, VWF
16tranexamic acid44 1110.4F2, F8, VWF, F9
17kininogen449.3F9, F11, VWF, GP1BA, F2
18hydroxyethyl starch449.3F8, F2, VWF
19aspartate449.3F8, GP9, GP1BB, F2, F2R
20clopidogrel49 44 11 2412.1F2, F2R, VWF, ITGA2, ITGB3
21abciximab44 1110.1ITGB3, ITGA2B, F2R, VWF, F2, GP1BA
22prostacyclin448.9GP1BA, F8, FGA, VWF, THPO, F2R
23tirofiban44 119.9ITGA2, ITGB3, ITGA2B, F2, F2R, VWF
24aprotinin44 119.9F11, F9, FGA, VWF, RECK, F2R
25homocysteine44 249.9F2, VWF, F9, F8, F11
26thromboxane a244 249.8VWF, FGA, THPO, F2R, F8, ITGA2
27desmopressin44 59 28 1111.8F8, F11, F9, F2, VWF, GP1BA
28sialic acid448.6F9, F8, THPO, NEU1, RECK
29endotoxin448.6F11, F8, F9, RECK, FGA
30arachidonic acid44 28 11 2411.6THPO, VWF, F2R, RECK, ITGA2, ITGA2B
31methionine448.5F9, VWF, RECK, F8, ITGA2, GP1BA
32latex448.4F9, THPO, F2R, GP1BA, VWF, FGA
33phosphatidylcholine448.3F2, NEU1, F8, ITGA2, F9
34phospholipid448.3VWF, F11, ITGA2, F8, F2R, F9
35epinephrine44 11 2410.3VWF, FGA, F2, F2R, THPO, F8
36vegf448.2VWF, F8, RECK, F2R, THPO
37polyacrylamide448.0NEU1, ITGA2, ITGB3, F8, F9, RECK
38alanine448.0THPO, F2, GP1BA, F9, ITGB3, F8
39lysine448.0F8, THPO, ITGB3, ITGA2B, ITGA2, RECK
40hirudin448.0THPO, F2R, F2, GP1BA, VWF, FGA
41serine448.0GP1BB, GP9, FGA, F11, NEU1, ITGA2B
42phosphatidylserine44 28 119.7VWF, F2, GP1BA, RECK, NEU1, ITGB3
43lactate447.6THPO, RECK, F8, F2, FGA, VWF
44heparin44 28 11 2410.3F9, F8, NEU1, F11, RECK, FGA
45ristocetin447.1F2R, F2, F8, F9, ITGB3, F11
46aspirin44 49 28 2410.0THPO, F2R, F2, GP1BA, GP5, VWF
47tyrosine446.9MYH9, ITGA2, F8, RECK, FGA, VWF
48cysteine446.9ITGB3, F9, F8, RECK, ITGA2, NEU1
49calcium44 49 11 249.7GP1BA, THPO, F9, F8, F2R, ITGB3
50fibrinogen445.3F9, FGA, RECK, F8, ITGB3, ITGA2

GO Terms for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:0310919.9VWF, FGA
2platelet alpha granule membraneGO:0310929.6ITGB3, ITGA2B
3platelet alpha granule lumenGO:0310939.3F8, FGA, VWF
4external side of plasma membraneGO:0098979.3VWF, FGA, ITGA2, ITGA2B
5integrin complexGO:0083059.2ITGB3, ITGA2B, ITGA2, MYH9
6integral to plasma membraneGO:0058878.1ITGB3, ITGA2B, GP9, GP1BA, GP5, GP1BB
7extracellular regionGO:0055767.7F9, F8, F11, FGA, VWF, F2
8plasma membraneGO:0058864.6F2R, F9, F8, ITGB3, ITGA2B, ITGA2

Biological processes related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.0F2, F9
2positive regulation of blood coagulationGO:03019410.0F2R, F2
3regulation of blood coagulationGO:03019310.0GP1BA, F2, F2R
4fibrinolysisGO:04273010.0F2, GP1BA
5response to woundingGO:0096119.8VWF, F2, F2R
6positive regulation of release of sequestered calcium ion into cytosolGO:0512819.6F2R, F2
7negative regulation of platelet activationGO:0105449.5F2, GP5
8integrin-mediated signaling pathwayGO:0072299.2MYH9, ITGA2, ITGA2B, ITGB3
9leukocyte migrationGO:0509009.2F2, MYH9, ITGB3
10axon guidanceGO:0074119.0ITGB3, ITGA2B, ITGA2, MYH9
11extracellular matrix organizationGO:0301989.0ITGB3, ITGA2B, ITGA2, RECK
12platelet degranulationGO:0025768.8F8, ITGB3, ITGA2B, FGA, VWF
13cell-matrix adhesionGO:0071608.8ITGB3, ITGA2B, ITGA2, GP5
14blood coagulation, intrinsic pathwayGO:0075977.4F2, GP1BB, GP5, GP1BA, GP9, VWF
15cell adhesionGO:0071557.3F8, ITGB3, ITGA2B, ITGA2, VWF, GP9
16platelet activationGO:0301686.5GP1BA, GP9, VWF, FGA, ITGA2B, ITGB3
17blood coagulationGO:0075965.5THPO, F2R, F2, GP1BB, GP5, GP1BA

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.0F2R, GP1BA
2collagen bindingGO:0055188.7GP5, VWF, ITGA2
3protein bindingGO:0055155.8F2R, F8, ITGB3, ITGA2B, ITGA2, F11

Products for genes affiliated with Bernard-Soulier Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bernard-Soulier Syndrome

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