AHUS1
MCID: HML033
MIFTS: 47

Hemolytic Uremic Syndrome, Atypical 1 (AHUS1) malady

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

Aliases & Descriptions for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 54
Ahus 50 24 25 56 66
Atypical Hemolytic-Uremic Syndrome 24 25 56 29
Atypical Hus 50 24 56
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 54 13
Hemolytic-Uremic Syndrome Without Diarrhea 56 66
Hemolytic Uremic Syndrome Atypical 1 66 29
Atypical Hemolytic Uremic Syndrome 50 69
Hemolytic-Uremic Syndrome 66 69
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 56
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 56
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 66
Atypical Hus with Anti-Factor H Antibodies 56
Hemolytic-Uremic Syndrome with Diarrhea 56
Hereditary Hemolytic-Uremic Syndrome 24
Hemolytic Uremic Syndrome, Atypical 54
Non-Shiga-Like Toxin-Associated Hus 25
D-Hus with Anti-Factor H Antibodies 56
Familial Hemolytic-Uremic Syndrome 24
Ahus with Anti-Factor H Antibodies 56
Hemolytic Uremic Syndrome, Typical 69
Typical Hemolytic-Uremic Syndrome 56
Shiga-Like Toxin-Associated Hus 56
Nonenteropathic Hus 25
Hus, Atypical 50
Non-Stx-Hus 25
Typical Hus 56
Sxt-Hus 56
D-Hus 56
D+hus 56
D Hus 66
Ahus1 66

Characteristics:

Orphanet epidemiological data:

56
atypical hemolytic-uremic syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;
typical hemolytic-uremic syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages;

HPO:

32
hemolytic uremic syndrome, atypical 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 235400
MESH via Orphanet 43 C538266
UMLS via Orphanet 70 C2931788
ICD10 via Orphanet 34 D58.8 D59.3
MeSH 42 D006463

Summaries for Hemolytic Uremic Syndrome, Atypical 1

OMIM : 54 Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic... (235400) more...

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 1, also known as ahus, is related to hemolytic uremic syndrome, atypical 2 and hemolytic uremic syndrome, atypical 3, and has symptoms including thrombocytopenia, acute kidney injury and microangiopathic hemolytic anemia. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. The drugs Complement System Proteins and Complement Inactivating Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Genetics Home Reference : 25 Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.

NIH Rare Diseases : 50 atypical hemolytic uremic syndrome (ahus) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. these clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. it can occur at any age and is often caused by a combination of environmental and genetic factors. genetic factors involve genes that code for proteins that help control the complement system (part of your body’s immune system). environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension), viral or bacterial infections, cancers, organ transplantation, and pregnancy. in about 60% of ahus, a gene mutation may be identified. the genes associated with genetic ahus include c3, cd46 (mcp), cfb, cfh, cfhr1, cfhr3, cfhr4, cfi, dgke, and thbd. mutations in these genes  increase the likelihood (predisposition) to developing ahus, rather than directly causing the disease. most cases are sporadic. in familiar cases, predisposition to ahus is inherited in an autosomal dominant or an autosomal recessive pattern of inheritance. atypical hemolytic uremic syndrome differs from a more common condition called typical hemolytic uremic syndrome. the two disorders have different causes and different signs and symptoms. last updated: 1/23/2017

UniProtKB/Swiss-Prot : 66 Hemolytic uremic syndrome atypical 1: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Hemolytic Uremic Syndrome, Atypical 2 Hemolytic Uremic Syndrome, Atypical 3
Hemolytic Uremic Syndrome, Atypical 4 Hemolytic Uremic Syndrome, Atypical 5
Hemolytic Uremic Syndrome, Atypical 6 C3-Related Atypical Hemolytic-Uremic Syndrome
Cd46-Related Atypical Hemolytic-Uremic Syndrome Cfb-Related Atypical Hemolytic-Uremic Syndrome
Cfh-Related Atypical Hemolytic-Uremic Syndrome Cfi-Related Atypical Hemolytic-Uremic Syndrome
Dgke-Related Atypical Hemolytic-Uremic Syndrome Thbd-Related Atypical Hemolytic-Uremic Syndrome

Diseases related to Hemolytic Uremic Syndrome, Atypical 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
id Related Disease Score Top Affiliating Genes
1 hemolytic uremic syndrome, atypical 2 12.5
2 hemolytic uremic syndrome, atypical 3 12.5
3 hemolytic uremic syndrome, atypical 4 12.5
4 hemolytic uremic syndrome, atypical 5 12.5
5 hemolytic uremic syndrome, atypical 6 12.5
6 hemolytic uremic syndrome, atypical, childhood 12.4
7 genetic atypical hemolytic-uremic syndrome 12.2
8 thbd-related atypical hemolytic-uremic syndrome 12.1
9 c3-related atypical hemolytic-uremic syndrome 12.1
10 cd46-related atypical hemolytic-uremic syndrome 12.1
11 cfb-related atypical hemolytic-uremic syndrome 12.1
12 cfh-related atypical hemolytic-uremic syndrome 12.1
13 cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome 12.1
14 cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome 12.1
15 cfi-related atypical hemolytic-uremic syndrome 12.1
16 dgke-related atypical hemolytic-uremic syndrome 12.1
17 atypical hemolytic-uremic syndrome with h factor anomaly 12.1
18 nephrotic syndrome, type 7 11.8
19 hemolytic-uremic syndrome 10.5
20 elane-related neutropenia 10.1 CFH CFHR5
21 multiple synostoses syndrome 1 10.1 CFH DGKE
22 uterine adnexa cancer 10.1 CFH CFHR1
23 desmoplastic small round cell tumor 10.1 CFH CFHR5
24 bronchiolitis 10.0 CFH CFHR5
25 extraventricular neurocytoma 10.0 CFH CFI
26 pdgfra-associated chronic eosinophilic leukemia 10.0 CFHR1 CFHR3 CFHR5
27 acute ackee fruit intoxication 10.0 CFH CFI
28 peritonitis 9.9
29 macular degeneration, age-related, 4 9.9 CFH CFHR1 CFI
30 thyroid cancer, anaplastic 9.9 CFH THBD
31 septic myocarditis 9.8 CFI THBD
32 heart valve disease 9.8 CFH CFHR5 CFI
33 placental choriocarcinoma 9.7 CFH CFHR1 CFHR3 CFI
34 acute proliferative glomerulonephritis 9.7 CFH CFI THBD
35 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.4 CFH CFHR1 CFHR3 CFHR4 CFHR5 CFI
36 chronic progressive external ophthalmoplegia 9.1 CFH CFHR1 CFHR3 CFHR5 CFI DGKE
37 complement factor h deficiency 8.8 BAAT CFH CFHR1 CFHR3 CFHR4 CFHR5

Graphical network of the top 20 diseases related to Hemolytic Uremic Syndrome, Atypical 1:



Diseases related to Hemolytic Uremic Syndrome, Atypical 1

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 1

Symptoms by clinical synopsis from OMIM:

235400

Clinical features from OMIM:

235400

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
2 acute kidney injury 56 32 Very frequent (99-80%) HP:0001919
3 microangiopathic hemolytic anemia 56 32 Very frequent (99-80%) HP:0001937
4 decreased serum complement factor i 56 32 Frequent (79-30%) HP:0005356
5 decreased serum complement factor b 56 32 Frequent (79-30%) HP:0005416
6 fever 32 HP:0001945
7 seizures 32 HP:0001250
8 diarrhea 32 HP:0002014
9 hemiparesis 32 HP:0001269
10 hypertension 32 HP:0000822
11 dysphasia 32 HP:0002357
12 cognitive impairment 32 HP:0100543
13 proteinuria 56 Very frequent (99-80%)
14 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
15 hematuria 56 Very frequent (99-80%)
16 hyperlipidemia 32 HP:0003077
17 coma 32 HP:0001259
18 purpura 32 HP:0000979
19 reticulocytosis 32 HP:0001923
20 elevated serum creatinine 32 HP:0003259
21 abnormal lactate dehydrogenase activity 56 Very frequent (99-80%)
22 abnormality of blood and blood-forming tissues 56 Very frequent (99-80%)
23 complement deficiency 56 Frequent (79-30%)
24 abnormality of complement system 56 Frequent (79-30%)
25 decreased level of thrombomodulin 56 Frequent (79-30%)
26 decreased serum complement c3 32 HP:0005421
27 increased blood urea nitrogen 32 HP:0003138
28 schistocytosis 32 HP:0001981
29 decreased serum complement factor h 32 HP:0005369
30 hemolytic-uremic syndrome 32 HP:0005575
31 anuria 32 HP:0100519

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

Drugs for Hemolytic Uremic Syndrome, Atypical 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 3,Phase 2
2 Complement Inactivating Agents Phase 3

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Recruiting NCT02574403 Phase 4
2 Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and Treatment Enrolling by invitation NCT02614898 Phase 4
3 Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-Naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT02949128 Phase 3
4 Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS) Not yet recruiting NCT03131219 Phase 3
5 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2
6 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2
7 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00838513 Phase 2
8 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUS Completed NCT00844545 Phase 2
9 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUS Completed NCT00844844 Phase 2
10 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUS Completed NCT00844428 Phase 2
11 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2
12 Safety and Efficacy Study of OMS721 in Patients With Thrombotic Microangiopathies Recruiting NCT02222545 Phase 2
13 Complement Inhibition in aHUS Dialysis Patients Terminated NCT02464891 Phase 2
14 Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease Unknown status NCT00930423
15 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951
16 To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS Patients Completed NCT01755429
17 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
18 Atypcial Hemolytic-Uremic Syndrome (aHUS) Registry Recruiting NCT01522183
19 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Recruiting NCT02904863
20 The Role of Microparticles as a Biomarker Enrolling by invitation NCT02626663
21 aHUS Observational Long Term Follow-Up Terminated NCT01522170
22 International Registry and Biorepository for TMA(Thrombotic Microangiopathy) Terminated NCT00593229

Search NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 1

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 1 29
2 Atypical Hemolytic Uremic Syndrome 29
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to 29
4 Atypical Hemolytic-Uremic Syndrome 24 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 1:

39
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 1

Variations for Hemolytic Uremic Syndrome, Atypical 1

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

66 (show all 31)
id Symbol AA change Variation ID SNP ID
1 CFH p.Leu1189Arg VAR_019407
2 CFH p.Ser1191Leu VAR_019408 rs460897
3 CFH p.Arg78Gly VAR_025864
4 CFH p.Cys630Trp VAR_025865
5 CFH p.Glu850Lys VAR_025866
6 CFH p.Gln950His VAR_025867 rs149474608
7 CFH p.Tyr951His VAR_025868
8 CFH p.Thr956Met VAR_025869 rs145975787
9 CFH p.Trp978Cys VAR_025870
10 CFH p.Tyr1021Phe VAR_025871
11 CFH p.Cys1043Arg VAR_025872
12 CFH p.Val1134Gly VAR_025875
13 CFH p.Tyr1142Asp VAR_025876
14 CFH p.Trp1157Arg VAR_025877
15 CFH p.Cys1163Trp VAR_025878
16 CFH p.Trp1183Leu VAR_025879
17 CFH p.Trp1183Arg VAR_025880
18 CFH p.Gly1194Asp VAR_025882
19 CFH p.Val1197Ala VAR_025883 rs460184
20 CFH p.Glu1198Ala VAR_025884
21 CFH p.Arg1215Gly VAR_025886
22 CFH p.Pro1226Ser VAR_025888
23 CFH p.Gln400Lys VAR_031980
24 CFH p.Cys673Tyr VAR_031983
25 CFH p.His893Arg VAR_031984
26 CFH p.Cys915Ser VAR_031985
27 CFH p.Phe1199Ser VAR_031986
28 CFH p.Cys325Tyr VAR_063648
29 CFH p.Val609Ile VAR_063649
30 CFH p.Ile1169Leu VAR_063650
31 CFH p.Trp1183Cys VAR_063651

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 THBD NM_000361.2(THBD): c.127G> A (p.Ala43Thr) single nucleotide variant risk factor rs1800576 GRCh37 Chromosome 20, 23030015: 23030015
2 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
3 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh37 Chromosome 1, 196716261: 196716261
4 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh37 Chromosome 1, 196716390: 196716390
5 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh37 Chromosome 1, 196716319: 196716319
6 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh37 Chromosome 1, 196716424: 196716447
7 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh37 Chromosome 1, 196716313: 196716313
8 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh37 Chromosome 1, 196642132: 196642135
9 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh37 Chromosome 1, 196706705: 196706705
10 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
11 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh37 Chromosome 1, 196716339: 196716339
12 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh37 Chromosome 1, 196712876: 196797546
13 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh37 Chromosome 1, 196716337: 196716337
14 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh37 Chromosome 9, 104125109: 104125109
15 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh37 Chromosome 9, 104125000: 104125000
16 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh37 Chromosome 17, 54912188: 54912188
17 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh37 Chromosome 17, 54925356: 54925356
18 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh37 Chromosome 17, 54926168: 54926168
19 DGKE NM_003647.2(DGKE): c.472dupT (p.Trp158Leufs) duplication Likely pathogenic rs312262698 GRCh37 Chromosome 17, 54921387: 54921387
20 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh37 Chromosome 17, 54921401: 54921401
21 DGKE NM_003647.2(DGKE): c.889-1G> A single nucleotide variant Likely pathogenic rs312262696 GRCh37 Chromosome 17, 54926056: 54926056
22 DGKE NM_003647.2(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Likely pathogenic,risk factor rs138924661 GRCh37 Chromosome 17, 54926134: 54926134
23 C3AR1 NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs) duplication Likely pathogenic rs869312973 GRCh37 Chromosome 12, 8212426: 8212427
24 CFH NM_000186.3(CFH): c.2950T> C (p.Cys984Arg) single nucleotide variant Likely pathogenic rs886039869 GRCh37 Chromosome 1, 196709916: 196709916

Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26280 1 198700000 214500000 Deletion CFHR1 Atypical hemolytic uremic syndrome
2 26281 1 198700000 214500000 Deletion CFHR3 Atypical hemolytic uremic syndrome
3 26282 1 198700000 214500000 Deletion CFHR4 Atypical hemolytic uremic syndrome

Expression for Hemolytic Uremic Syndrome, Atypical 1

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 1.

Pathways for Hemolytic Uremic Syndrome, Atypical 1

GO Terms for Hemolytic Uremic Syndrome, Atypical 1

Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 CFH CFHR1 CFHR3 CFI THBD
2 blood microparticle GO:0072562 8.8 CFH CFHR1 CFHR3

Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 complement activation GO:0006956 9.16 CFH CFHR1
2 regulation of complement activation GO:0030449 9.02 CFH CFHR1 CFHR4 CFHR5 CFI
3 complement activation, alternative pathway GO:0006957 8.96 CFH CFHR5

Sources for Hemolytic Uremic Syndrome, Atypical 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
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70 UMLS via Orphanet
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