PUV
MCID: PST041
MIFTS: 51

Posterior Urethral Valves (PUV)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Posterior Urethral Valves

MalaCards integrated aliases for Posterior Urethral Valves:

Name: Posterior Urethral Valves 52
Congenital Posterior Urethral Valves 71 32
Posterior Urethral Valve 58
Puv 58

Characteristics:

Orphanet epidemiological data:

58
posterior urethral valve
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Australia); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q64.2
ICD10 via Orphanet 33 Q64.2
UMLS via Orphanet 72 C0238506 C0542520
Orphanet 58 ORPHA93110
UMLS 71 C0238506

Summaries for Posterior Urethral Valves

MalaCards based summary : Posterior Urethral Valves, also known as congenital posterior urethral valves, is related to congenital anomalies of kidney and urinary tract 2 and cakut. An important gene associated with Posterior Urethral Valves is BNC2 (Basonuclin 2), and among its related pathways/superpathways are p70S6K Signaling and Dilated cardiomyopathy (DCM). The drugs Fentanyl and Pancuronium have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and appendix, and related phenotypes are recurrent urinary tract infections and congenital posterior urethral valve

Wikipedia : 74 Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and... more...

Related Diseases for Posterior Urethral Valves

Diseases in the Anterior Urethral Valve family:

Posterior Urethral Valves

Diseases related to Posterior Urethral Valves via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 2 32.9 TBX18 DSTYK AGTR2
2 cakut 32.6 TBX18 NRIP1 DSTYK AGTR2
3 renal dysplasia 31.2 AGTR1 AGT ACE
4 oligohydramnios 31.1 AGTR1 AGT ACE
5 hydronephrosis 31.0 TGFB1 IL6 AGTR2
6 urinary tract obstruction 30.9 TGFB1 BNC2 AGTR1 ACE
7 potter's syndrome 30.7 AGT ACE
8 acute cystitis 30.6 TNF IL6 ACE
9 vesicoureteral reflux 1 30.4 TGFB1 DSTYK AGTR2 AGTR1 AGT ACE
10 anuria 30.3 AGTR1 AGT ACE
11 ureteral obstruction 30.2 TGFB1 AGTR2 AGTR1
12 interstitial nephritis 30.0 AGTR1 AGT ACE
13 pyelonephritis 29.9 TNF IL6 ACE
14 obstructive nephropathy 29.9 TGFB1 AGTR2 AGT ACE
15 uremia 29.9 TNF IL6 ACE
16 renal hypertension 29.4 AGTR2 AGTR1 AGT ACE2 ACE
17 prostatitis 29.4 TNF TGFB1 IL6
18 chronic kidney disease 29.1 TNF TGFB1 IL6 AGTR1 AGT ACE
19 end stage renal failure 29.0 TNF TGFB1 IL6 AGTR2 AGTR1 AGT
20 kidney disease 28.2 TNF TGFB1 IL6 AGTR2 AGTR1 AGT
21 congenital anomalies of kidney and urinary tract 1 11.6
22 congenital anomalies of kidney and urinary tract 3 11.5
23 lower urinary tract obstruction, congenital 11.5
24 urethral stricture 10.6
25 prune belly syndrome 10.5
26 bilateral renal aplasia 10.4 TBX18 DSTYK
27 down syndrome 10.4
28 cryptorchidism, unilateral or bilateral 10.4
29 bladder neck obstruction 10.4
30 hypospadias 10.4
31 vaccinia 10.4
32 anterior urethral valve 10.3
33 alzheimer disease 5 10.3 AGTR1 ACE
34 iga nephropathy 1 10.3 AGTR1 ACE
35 pneumothorax 10.3
36 47,xyy 10.3
37 duplication of urethra 10.3
38 diffuse scleroderma 10.3 TGFB1 ACE
39 hypertensive encephalopathy 10.2 AGTR1 ACE
40 meningococcal infection 10.2 AGTR1 AGT
41 hypertensive retinopathy 10.2 AGTR1 ACE
42 fuchs' heterochromic uveitis 10.2 IL6 ACE
43 hypertensive nephropathy 10.2 AGTR1 ACE
44 renal hypodysplasia/aplasia 1 10.2
45 anus, imperforate 10.2
46 renal hypoplasia 10.2
47 renal tubular acidosis 10.2
48 impotence 10.2
49 orchitis 10.2
50 acute kidney failure 10.2

Graphical network of the top 20 diseases related to Posterior Urethral Valves:



Diseases related to Posterior Urethral Valves

Symptoms & Phenotypes for Posterior Urethral Valves

Human phenotypes related to Posterior Urethral Valves:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0000010
2 congenital posterior urethral valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0010957
3 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
4 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
5 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
7 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
8 enuresis nocturna 58 31 occasional (7.5%) Occasional (29-5%) HP:0010677
9 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
10 pyelonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012330
11 fetal pyelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010945
12 unilateral renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008718
13 hypertelorism 58 31 very rare (1%) Very rare (<4-1%) HP:0000316
14 retrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000278
15 abnormal nasal morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0005105
16 oligohydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001562
17 urethral stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0008661
18 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
19 dysuria 58 31 very rare (1%) Very rare (<4-1%) HP:0100518
20 urinary retention 58 31 very rare (1%) Very rare (<4-1%) HP:0000016
21 renal insufficiency 58 Occasional (29-5%)
22 chronic kidney disease 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Posterior Urethral Valves:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ACE ACE2 AGT AGTR1 AGTR2 BNC2
2 behavior/neurological MP:0005386 10.11 ACE AGT AGTR1 AGTR2 BNC2 DSTYK
3 cardiovascular system MP:0005385 10.09 ACE ACE2 AGT AGTR1 AGTR2 IL6
4 adipose tissue MP:0005375 10.08 ACE AGT AGTR1 AGTR2 IL6 SLC3A1
5 homeostasis/metabolism MP:0005376 10.02 ACE ACE2 AGT AGTR1 AGTR2 IL6
6 digestive/alimentary MP:0005381 9.95 ACE2 AGTR2 BNC2 IL6 NRIP1 TGFB1
7 mortality/aging MP:0010768 9.93 ACE ACE2 AGT AGTR1 AGTR2 BNC2
8 immune system MP:0005387 9.91 ACE ACE2 AGT AGTR1 AGTR2 IL6
9 muscle MP:0005369 9.56 ACE2 AGT AGTR2 IL6 SLC3A1 TBX18
10 renal/urinary system MP:0005367 9.28 ACE ACE2 AGT AGTR1 AGTR2 IL6

Drugs & Therapeutics for Posterior Urethral Valves

Drugs for Posterior Urethral Valves (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
2
Pancuronium Approved Phase 2 15500-66-0, 16974-53-1 27350 441289
3
Mycophenolic acid Approved Phase 1 24280-93-1 446541
4 Antibiotics, Antitubercular Phase 1
5 Antitubercular Agents Phase 1
6 Anti-Bacterial Agents Phase 1
7 Anti-Infective Agents Phase 1
8
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
9 Anesthetics

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial of Fetal Cystoscopy Versus Vesico-amniotic Shunting in Severe Lower Urinary Tract Obstructions Unknown status NCT01552824 Phase 2
2 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1 mycophenolate mofetil
3 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Recruiting NCT03794011 Phase 1
4 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
5 Renal Outcome in Children With Congenital Solitary Kidney: a Longitudinal Prognostic Study Unknown status NCT01831141
6 Multicentre Validation of a Fetal Urine Peptidome-based Classifier to Predict Post-natal Renal Function in Posterior Urethral Valves Recruiting NCT03116217
7 Validation of the Standardized Prenatal Clinical Management of Fetuses With Lower Urinary Tract Obstruction (LUTO) Recruiting NCT02315521
8 Open Spina Bifida Fetoscopic Repair Project Recruiting NCT03562286
9 Effect of Circumcision on the Risk of Febrile Urinary Tract Infections in Children With Posterior Urethral Valves. Active, not recruiting NCT01537601
10 BP-CATCH: Boosting Primary Care Awareness and Treatment of Childhood Hypertension Enrolling by invitation NCT03783650
11 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction - a Prospective Trial Terminated NCT02446184

Search NIH Clinical Center for Posterior Urethral Valves

Genetic Tests for Posterior Urethral Valves

Anatomical Context for Posterior Urethral Valves

MalaCards organs/tissues related to Posterior Urethral Valves:

40
Kidney, Lung, Appendix, Prostate, Colon, Testes, Spinal Cord

Publications for Posterior Urethral Valves

Articles related to Posterior Urethral Valves:

(show top 50) (show all 1177)
# Title Authors PMID Year
1
Renal outcomes of neonates with early presentation of posterior urethral valves: a 10-year single center experience. 61
31471579 2020
2
[Surgical treatment of vesicoureteral reflux in the first year of life?] 61
31805578 2019
3
Balloon catheterization in fetal lower urinary tract obstruction: an observational study of 10 fetuses. 61
31763721 2019
4
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract. 61
31309282 2019
5
Re: A Clinical Predictive Model of Chronic Kidney Disease in Children with Posterior Urethral Valves. 61
31710556 2019
6
Adolescent Presentation of Posterior Urethral Valves. 61
31758982 2019
7
Survival and Kidney Outcomes of Children with an Early Diagnosis of Posterior Urethral Valves. 61
31582461 2019
8
A single-center study to evaluate the efficacy of a fetal urine peptide signature predicting postnatal renal outcome in fetuses with posterior urethral valves. 61
31701236 2019
9
Cowper's syringocele in the pediatric population: a retrospective study of 122 patients. 61
31270025 2019
10
Can transient resting of the bladder with vesicostomy reduce the need for a major surgery in some patients? 61
31060966 2019
11
Surprising interobserver and intra-observer variability in pediatric testicular ultrasound volumes. 61
31104998 2019
12
Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children. 61
31333211 2019
13
Voiding cystography: an unusual route of induced hypothyroidism by iodine overdose in two newborns with chronic kidney disease. 61
30937552 2019
14
Lifelong Congenital Urology: The Challenges for Patients and Surgeons. 61
30935758 2019
15
Developmental pathology of congenital kidney and urinary tract anomalies. 61
31198539 2019
16
Long-term growth in children with posterior urethral valves. 61
30948260 2019
17
The protective arm of the renin-angiotensin system may counteract the intense inflammatory process in fetuses with posterior urethral valves. 61
29534877 2019
18
Double trouble: A rare case of posterior urethral valve and Cobb's collar. 61
31211059 2019
19
Prenatal extravasation of urine seems to preserve renal function in boys with posterior urethral valves. 61
30982696 2019
20
The fallow mitrofanoff. 61
30930019 2019
21
No single reason behind adult lower urinary tract symptoms in patients with posterior urethral valves. 61
31006310 2019
22
Posterior urethral valves: comparison of clinical outcomes between postnatal and antenatal cohorts. 61
30554921 2019
23
LONG-TERM OUTCOME OF RENAL TRANSPLANTATION IN PATIENTS WITH CONGENITAL LOWER URINARY TRACT MALFORMATIONS: A MULTICENTER STUDY. 61
30964838 2019
24
Population-based trend analysis of voiding cystourethrogram ordering practices in a single-payer healthcare system before and after the release of evaluation guidelines. 61
30718129 2019
25
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 61
29664229 2019
26
Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association. 61
30597716 2019
27
Re: Caring for Infants with Posterior Urethral Valves: . 61
30759650 2019
28
Renal Replacement Therapy and Intermittent Catheterization Risk in Posterior Urethral Valves. 61
30709926 2019
29
Does Voiding Cystourethrogram Exclude Posterior Urethral Valves in Late Presenting Cases? 61
30267391 2019
30
Improvise, Adapt, Overcome: mobile phone LED used as a light source for cystoscopy and resection of posterior urethral valves in a low-cost setting. 61
30591408 2019
31
Correlation between the estimated GFR and SWRD score in patients with posterior urethral valves at King Abdul-Aziz University Hospital. 61
30755266 2019
32
A clinical predictive model of chronic kidney disease in children with posterior urethral valves. 61
30196383 2019
33
The postnatal management of boys in a national cohort of bladder outlet obstruction. 61
30528203 2019
34
Current epidemiology and antenatal presentation of posterior urethral valves: Outcome of BAPS CASS National Audit. 61
30528204 2019
35
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle. 61
31214239 2019
36
Clinical Outcome of Children With Antenatally Diagnosed Hydronephrosis. 61
30984723 2019
37
Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. 61
29772579 2019
38
Consensus on the Management of Posterior Urethral Valves from Antenatal Period to Puberty. 61
30686881 2019
39
Intravesical Oxybutynin for Urgent Bladder Rescue in a Newborn with Posterior Urethral Valves. 61
31763132 2019
40
Rare association of the anterior and posterior urethral valves. 61
30585406 2018
41
Urine biochemistry to predict long-term outcomes in fetuses with posterior urethral valves. 61
30207389 2018
42
Long-term outcome of pediatric renal transplantation in boys with posterior urethral valves. 61
30037657 2018
43
Current strategies to predict and manage sequelae of posterior urethral valves in children. 61
29159472 2018
44
Neonate with urinary ascites but no hydronephrosis: unusual presentation of posterior urethral valves. 61
30317193 2018
45
Endoscopic injection of bulking agent around the ejaculatory ducts at the verumontanum for recurrent paediatric epididymitis. 61
30154047 2018
46
Perinatal Outcomes of Fetal Lower Urinary Tract Obstruction After Vesicoamniotic Shunting Using a Double-Basket Catheter. 61
29498072 2018
47
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 61
30093259 2018
48
Early transplantation into a vesicostomy: a safe approach for managing patients with severe obstructive lesions who are not candidates for bladder augmentation. 61
30228092 2018
49
Urinary Ascites Secondary to Bilateral Mid-ureteral Stenosis in a Neonate. 61
29621498 2018
50
Hypernatremia and acute pancreatitis in chronic kidney disease: back to the salt mines. Questions. 61
29067525 2018

Variations for Posterior Urethral Valves

Expression for Posterior Urethral Valves

Search GEO for disease gene expression data for Posterior Urethral Valves.

Pathways for Posterior Urethral Valves

Pathways related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 TGFB1 IL6 AGTR2 AGTR1 AGT ACE
2
Show member pathways
11.92 TNF TGFB1 IL6 AGT ACE
3
Show member pathways
11.87 TNF TGFB1 IL6
4 11.83 TNF TGFB1 IL6
5 11.8 TNF TGFB1 IL6
6
Show member pathways
11.77 TNF IL6 AGT
7 11.72 TNF TGFB1 IL6
8 11.67 TNF TGFB1 IL6
9 11.67 TNF TGFB1 NRIP1 IL6 AGT
10 11.56 TNF TGFB1 IL6
11 11.52 TNF TGFB1 IL6
12 11.49 AGTR1 AGT ACE
13 11.43 TNF TGFB1 IL6
14 11.35 TNF TGFB1 IL6 AGTR1 AGT
15 11.31 TNF TGFB1 IL6
16 11.01 TNF TGFB1 IL6
17
Show member pathways
11 TGFB1 AGTR2 AGTR1 AGT ACE2 ACE
18 10.87 TNF IL6
19 10.84 TNF NRIP1 IL6
20 10.7 TNF TGFB1

GO Terms for Posterior Urethral Valves

Biological processes related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.96 TNF TGFB1 IL6 AGTR2 AGTR1
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 TNF TGFB1 NRIP1 IL6 AGTR2 AGT
3 negative regulation of cell growth GO:0030308 9.86 TGFB1 AGTR2 AGT
4 kidney development GO:0001822 9.86 AGTR1 AGT ACE
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 TNF TGFB1 IL6 AGT
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.84 TGFB1 IL6 AGT
7 positive regulation of inflammatory response GO:0050729 9.84 TNF AGTR1 AGT
8 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.83 TNF TGFB1 IL6
9 regulation of inflammatory response GO:0050727 9.83 TNF AGTR1 ACE2
10 regulation of blood pressure GO:0008217 9.8 AGTR2 AGT ACE
11 negative regulation of fat cell differentiation GO:0045599 9.79 TNF TGFB1 IL6
12 positive regulation of nitric oxide biosynthetic process GO:0045429 9.77 TNF AGTR2 AGT
13 regulation of cell proliferation GO:0042127 9.72 TNF TGFB1 AGTR1 AGT ACE2
14 positive regulation of chemokine production GO:0032722 9.71 TNF IL6
15 blood vessel remodeling GO:0001974 9.71 AGTR2 AGT ACE
16 nitric oxide mediated signal transduction GO:0007263 9.7 AGTR2 AGT
17 vasodilation GO:0042311 9.7 AGTR2 AGT
18 positive regulation of superoxide anion generation GO:0032930 9.7 TGFB1 AGT
19 positive regulation of glial cell proliferation GO:0060252 9.7 TNF IL6
20 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 AGTR1 AGT
21 cellular sodium ion homeostasis GO:0006883 9.69 AGTR2 AGT
22 cell growth involved in cardiac muscle cell development GO:0061049 9.68 AGTR2 AGT
23 positive regulation of renal sodium excretion GO:0035815 9.68 AGTR2 AGT
24 low-density lipoprotein particle remodeling GO:0034374 9.68 AGTR1 AGT
25 positive regulation of neuroinflammatory response GO:0150078 9.67 TNF IL6
26 angiotensin maturation GO:0002003 9.67 ACE2 ACE
27 regulation of protein import into nucleus GO:0042306 9.65 TGFB1 AGTR2
28 angiotensin-activated signaling pathway GO:0038166 9.65 AGTR2 AGTR1
29 negative regulation of lipid storage GO:0010888 9.64 TNF IL6
30 positive regulation of cholesterol esterification GO:0010873 9.64 AGTR1 AGT
31 neutrophil mediated immunity GO:0002446 9.63 IL6 ACE
32 positive regulation of NAD(P)H oxidase activity GO:0033864 9.63 AGTR1 AGT
33 positive regulation of reactive oxygen species metabolic process GO:2000379 9.63 AGTR1 AGT ACE2
34 positive regulation of mononuclear cell migration GO:0071677 9.62 TNF TGFB1
35 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.61 AGTR2 AGT
36 regulation of renal sodium excretion GO:0035813 9.6 AGTR1 AGT
37 positive regulation of gap junction assembly GO:1903598 9.58 AGT ACE2
38 receptor biosynthetic process GO:0032800 9.58 TNF ACE2
39 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 TGFB1 AGTR2 AGT
40 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.57 AGTR1 AGT
41 positive regulation of cellular protein metabolic process GO:0032270 9.54 TGFB1 AGTR1 AGT
42 mononuclear cell proliferation GO:0032943 9.52 TGFB1 ACE
43 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.51 AGTR2 AGT
44 angiotensin-mediated drinking behavior GO:0003051 9.49 AGT ACE2
45 regulation of renal output by angiotensin GO:0002019 9.48 AGT ACE
46 regulation of vasoconstriction GO:0019229 9.46 AGTR1 AGT ACE2 ACE
47 renin-angiotensin regulation of aldosterone production GO:0002018 9.43 AGTR2 AGTR1 AGT
48 regulation of blood vessel diameter GO:0097746 9.26 AGTR2 AGTR1 ACE2 ACE
49 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 8.92 AGTR1 AGT ACE2 ACE

Molecular functions related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dipeptidyl-peptidase activity GO:0008239 9.32 ACE2 ACE
2 exopeptidase activity GO:0008238 9.26 ACE2 ACE
3 angiotensin type II receptor activity GO:0004945 9.16 AGTR2 AGTR1
4 peptidyl-dipeptidase activity GO:0008241 8.96 ACE2 ACE
5 bradykinin receptor binding GO:0031711 8.62 AGTR1 ACE

Sources for Posterior Urethral Valves

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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