Aliases & Classifications for Polyhydramnios

MalaCards integrated aliases for Polyhydramnios:

Name: Polyhydramnios 12 29 55 6 44 15 72 33

Classifications:



External Ids:

Disease Ontology 12 DOID:8488
ICD9CM 35 657 657.0
MeSH 44 D006831
NCIt 50 C92848
SNOMED-CT 68 86203003
ICD10 33 O40
UMLS 72 C0020224

Summaries for Polyhydramnios

Disease Ontology : 12 A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.

MalaCards based summary : Polyhydramnios is related to polyhydramnios, megalencephaly, and symptomatic epilepsy and bartter disease, and has symptoms including morning sickness An important gene associated with Polyhydramnios is MTM1 (Myotubularin 1), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. The drugs Metformin and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include placenta, lung and testes, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 75 Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is... more...

Related Diseases for Polyhydramnios

Diseases related to Polyhydramnios via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 polyhydramnios, megalencephaly, and symptomatic epilepsy 34.8 STRADA STK11
2 bartter disease 32.9 SLC12A1 KCNJ1 CLCNKB
3 bartter syndrome, type 3 32.3 SLC12A1 KCNJ1 CLCNKB
4 oligohydramnios 31.9 AQP3 AQP1 AFP
5 antenatal bartter syndrome 30.5 SLC12A1 MAGED2 KCNJ1
6 neonatal myasthenia gravis 30.2 MUSK AFP
7 chorioangioma 30.2 FGFR3 AFP
8 diabetes insipidus, nephrogenic, autosomal 30.0 SLC12A1 AQP3 AQP1
9 nephrocalcinosis 30.0 SLC12A1 KCNJ1 CLCNKB
10 polyhydramnios, chronic idiopathic 12.3
11 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 12.2
12 bartter syndrome, type 5, antenatal, transient 11.6
13 fetal akinesia syndrome, x-linked 11.6
14 esophageal atresia 11.5
15 twin-to-twin transfusion syndrome 11.4
16 duodenal atresia 11.4
17 perlman syndrome 11.3
18 chondrodysplasia, blomstrand type 11.2
19 pontocerebellar hypoplasia, type 4 11.2
20 bartter syndrome, type 2, antenatal 11.2
21 restrictive dermopathy, lethal 11.2
22 bartter syndrome, type 1, antenatal 11.2
23 lethal congenital contracture syndrome 7 11.2
24 bartter syndrome type 4 11.2
25 caffey disease 11.1
26 thanatophoric dysplasia, type ii 11.1
27 fetal akinesia deformation sequence 1 11.1
28 glycogen storage disease iv 11.1
29 multiple pterygium syndrome, lethal type 11.1
30 spinal muscular atrophy, x-linked 2 11.1
31 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
32 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.1
33 kagami-ogata syndrome 11.1
34 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.1
35 nemaline myopathy 10 11.1
36 lethal congenital contracture syndrome 6 11.1
37 fetal akinesia deformation sequence 2 11.1
38 fetal akinesia deformation sequence 3 11.1
39 fetal akinesia deformation sequence 4 11.1
40 congenital chloride diarrhea 11.1
41 arterial calcification of infancy 11.1
42 bamforth syndrome 11.1
43 tracheal agenesis 11.1
44 postsynaptic congenital myasthenic syndromes 10.5 RAPSN MUSK
45 arthrogryposis, distal, type 1a 10.5 RAPSN CNTNAP1
46 brachial plexus neuritis 10.4 MUSK MTM1
47 renal tubular transport disease 10.3 SLC12A1 KCNJ1 CLCNKB
48 placental abruption 10.3
49 fetal edema 10.3
50 hydrops fetalis 10.3

Graphical network of the top 20 diseases related to Polyhydramnios:



Diseases related to Polyhydramnios

Symptoms & Phenotypes for Polyhydramnios

UMLS symptoms related to Polyhydramnios:


morning sickness

GenomeRNAi Phenotypes related to Polyhydramnios according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.02 STK11 STRADA
2 Decreased substrate adherent cell growth GR00193-A-3 9.02 FGFR3 STK11 STRADA

MGI Mouse Phenotypes related to Polyhydramnios:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 AFP AQP1 AQP3 CNTNAP1 FGFR3 GLDN
2 growth/size/body region MP:0005378 10.29 AQP1 AQP3 CNTNAP1 DYNC2H1 FGFR3 HSD17B4
3 mortality/aging MP:0010768 10.28 AFP AQP1 AQP3 CNTNAP1 DYNC2H1 FGFR3
4 homeostasis/metabolism MP:0005376 10.27 AFP AQP1 AQP3 CLCNKB FGFR3 HSD17B4
5 cardiovascular system MP:0005385 10.15 AQP1 AQP3 DYNC2H1 KCNJ1 KCNQ1 LMOD3
6 nervous system MP:0003631 10.07 AQP1 CNTNAP1 DYNC2H1 FGFR3 GLDN HSD17B4
7 muscle MP:0005369 10.01 CNTNAP1 HSD17B4 KCNQ1 LMOD3 MTM1 MUSK
8 renal/urinary system MP:0005367 9.92 AQP1 AQP3 CLCNKB DYNC2H1 FGFR3 KCNJ1
9 reproductive system MP:0005389 9.86 AFP AQP1 CNTNAP1 FGFR3 HSD17B4 MTM1
10 respiratory system MP:0005388 9.76 AQP1 AQP3 DYNC2H1 FGFR3 MTM1 MUSK
11 skeleton MP:0005390 9.56 AQP1 AQP3 CNTNAP1 DYNC2H1 FGFR3 MTM1
12 vision/eye MP:0005391 9.17 AQP1 AQP3 CNTNAP1 DYNC2H1 FGFR3 HSD17B4

Drugs & Therapeutics for Polyhydramnios

Drugs for Polyhydramnios (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2
Glyburide Approved Phase 4 10238-21-8 3488
3 Hypoglycemic Agents Phase 4
4
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
5
Misoprostol Approved Phase 3 59122-46-2 5282381
6
Carbetocin Approved, Investigational Phase 3 37025-55-1 16681432 71715
7 Oxytocics Phase 3
8 Gastrointestinal Agents Phase 3
9 Antacids Phase 3
10 Anti-Ulcer Agents Phase 3
11
Tranexamic Acid Approved Phase 1, Phase 2 1197-18-8 5526
12
Betamethasone Approved, Vet_approved Phase 1, Phase 2 378-44-9 9782
13 Coagulants Phase 1, Phase 2
14 Antifibrinolytic Agents Phase 1, Phase 2
15 Hemostatics Phase 1, Phase 2
16 Hormones Phase 1, Phase 2
17 glucocorticoids Phase 1, Phase 2
18 Anti-Inflammatory Agents Phase 1, Phase 2
19 Respiratory System Agents Phase 1, Phase 2
20 Hormone Antagonists Phase 1, Phase 2
21 Betamethasone Valerate Phase 1, Phase 2 2152-44-5
22 Anti-Asthmatic Agents Phase 1, Phase 2
23 Betamethasone sodium phosphate Phase 1, Phase 2
24 Betamethasone-17,21-dipropionate Phase 1, Phase 2
25 Betamethasone benzoate Phase 1, Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
27
Propranolol Approved, Investigational 525-66-6 4946
28
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
29
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
30
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
31
Calcium Approved, Nutraceutical 7440-70-2 271
32
Pomegranate Experimental, Investigational
33 Micronutrients
34 Trace Elements
35 Vitamin D2
36 Vitamins
37 Ergocalciferols
38 Nutrients
39 Calciferol
40 Calcium, Dietary
41 Bone Density Conservation Agents
42 Pharmaceutical Solutions
43 Neurotransmitter Agents
44 Antihypertensive Agents
45 Adrenergic Antagonists
46 Adrenergic beta-Antagonists
47 Adrenergic Agents
48 Anti-Arrhythmia Agents
49 Vasodilator Agents
50 Anesthetics

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Comparison Between Two Oral Hypoglycemics - Metformin and Glybenclamide for the Treatment of Gestational Diabetes Mellitus Completed NCT01563120 Phase 4 metformin;glybenclamide
2 Syringe or Continuous Amnioreduction for Symptomatic Polyhydramnios. A Prospective Randomized Study. Completed NCT00236340 Phase 3
3 Carbetocin in Preventing Postpartum Bleeding in Women With Severe Preeclampsia. Completed NCT02086994 Phase 3 misoprostol;carbetocin
4 Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left Sided and Isolated Congenital Diaphragma Hernia and Severe Pulmonary Hypoplasia. Recruiting NCT01240057 Phase 2, Phase 3
5 Efficacy of Tranexamic Acid in Reducing Blood Loss During and After Caesarean Section Unknown status NCT02350179 Phase 1, Phase 2 Tranexamic Acid;Glucose
6 Prevention of Pre-Term Birth by Treatment of Periodontal Disease During Pregnancy - The Smile Study Unknown status NCT00133926 Phase 2
7 Investigation of Prenatal Steroids for Treatment of Prenatally Diagnosed CCAMs Terminated NCT00670956 Phase 1, Phase 2 Betamethasone;Placebo
8 Effect of Treatment of Vitamin D Deficiency During Pregnancy on Hypocalcemia Unknown status NCT02021864 vitamin D3 50,000 unit;prenatal multivitamin
9 Sonographic Assessment of Fetal Deglutition Associated With Hydramnion:Its Absence is Indicative of CNS Pathology? a Report on Two Cases. Unknown status NCT00687752
10 The Value of Prenatal Ultrasound in the Diagnosis and Monitoring of Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies of Twin Unknown status NCT02732717
11 Pomegranate to Reduce Maternal and Fetal Oxidative Stress and Improve Outcome in Pregnancies Complicated With Preterm Premature Rupture of the Membranes Unknown status NCT01584323
12 Efficacy and Efficiency of Uterocervical Angle for Prediction of Preterm Labor in Patients With Idiopathic Polyhydramnios: a Prospective Cohort Study Completed NCT03828695
13 Classification of Fetal Breathing Patterns in the Maturing Upper Airway: Spectral Waveform Analysis of Amniotic Fluid Flow Dynamics in Normal Development, Polyhydramnios, and Oligohydramnios Completed NCT00066976
14 Continuous Glucose Monitoring in Women With Type 1 Diabetes in Pregnancy Trial Completed NCT01788527
15 Maternal and Perinatal Outcome in Women With History of Premature Labor in Previous Pregnancy and Submitted to Active Search of Genital Infection Completed NCT01375439
16 Chewing Gums to Stimulate Intestinal Motility After Cesarean Section: A Randomized Controlled Trial Completed NCT02386748
17 Effect of Adjunctive Misoprostol on Blood Loss at Vaginal Delivery Completed NCT02411916
18 Effects of Co-administered Oxytocin and Intravenous Tranexamic Acid on Prevention of Postpartum Hemorrhage in Pregnant Women With Twin Pregnancy Undergoing Elective Cesarean Section: A Double-Blind Randomized Clinical Trial Recruiting NCT03778242 oxytocin;TA;placebo to TA
19 Effects of Co-administered Sublingual Misoprostol and Intravenous Tranexamic Acid on Prevention of Postpartum Hemorrhage in Pregnant Women With Twin Pregnancy Undergoing Elective Cesarean Section: A Double-Blind Randomized Clinical Trial Recruiting NCT03774524 Misoprostol;TA;placebo to misoprostol;placebo to TA
20 The Effect of Carbetocin Versus Oral Tranexamic Acid Plus, Buccal Misoprostol on Blood Loss After Vaginal Delivery: a Randomized Controlled Trial Recruiting NCT03708497 carbetocin;Tranexamic acid plus misoprostol;misoprostol
21 A Comparison Between the Effect of Oxytocin Only and Oxytocin Plus Propranolol on Induction of Labor in Term Pregnancy Recruiting NCT03533699 Propranolol;Placebo Oral Tablet
22 Does the Amniotic Fluid Index Affect the Fetal Cardiac Performance? Not yet recruiting NCT03277417
23 Colloid Preload Versus Crystalloid Co-load in Cesarean Section Under Spinal Anesthesia Randomized Controlled Trial Terminated NCT03107598 colloid preload
24 Pilot Study-A Cost and Time Savings Comparison of Lamellar Body Count and FLM II Withdrawn NCT00613977

Search NIH Clinical Center for Polyhydramnios

Cochrane evidence based reviews: polyhydramnios

Genetic Tests for Polyhydramnios

Genetic tests related to Polyhydramnios:

# Genetic test Affiliating Genes
1 Polyhydramnios 29

Anatomical Context for Polyhydramnios

MalaCards organs/tissues related to Polyhydramnios:

41
Placenta, Lung, Testes, Heart, Brain, Kidney, Bone

Publications for Polyhydramnios

Articles related to Polyhydramnios:

(show top 50) (show all 2287)
# Title Authors PMID Year
1
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 9 38
19096086 2009
2
Steady-state levels of aquaporin 1 mRNA expression are increased in idiopathic polyhydramnios. 9 38
16522429 2006
3
Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk. 9 38
15912478 2005
4
A novel model of polyhydramnios: amniotic fluid volume is increased in aquaporin 1 knockout mice. 9 38
15970890 2005
5
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. 9 38
11857621 2002
6
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 9 38
10073901 1999
7
Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid. 9 38
9067106 1997
8
Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions. 38
29606013 2019
9
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. 38
30977917 2019
10
Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. 38
30784096 2019
11
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. 38
31218730 2019
12
Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome. 38
31394527 2019
13
Cervical length should be measured for women with placenta previa: cohort study. 38
31434519 2019
14
Comparison of automated vs. manual measurement to estimate fetal weight in isolated polyhydramnios. 38
31141491 2019
15
First confirmation of the hypothesis that polyhydramnios causes bone maldevelopment. 38
30915876 2019
16
Accuracy of the Ultrasound Estimate of the Amniotic Fluid Volume (Amniotic Fluid Index and Single Deepest Pocket) to Identify Actual Low, Normal, and High Amniotic Fluid Volumes as Determined by Quantile Regression. 38
31423632 2019
17
Choosing Wisely: Bedrest-A Panacea for All That Ails the Gravida? 38
31053565 2019
18
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. 38
31276831 2019
19
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. 38
31325522 2019
20
Urinary Ascites and Transient Intestinal Obstruction in a Preterm Infant: An Interesting Case of Posterior Urethral Valve. 38
31297301 2019
21
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 38
31336229 2019
22
Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. 38
31307753 2019
23
Tracheal agenesis with esophageal atresia: an autopsy case report of a variant incompatible with life. 38
31314628 2019
24
Atypical Presentation of Duodenal Atresia Concomitant with Type-A Esophageal Atresia in Fetal Life: A Case Report. 38
31250423 2019
25
Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence? 38
30453768 2019
26
Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome. 38
31311125 2019
27
A contemporary amniotic fluid volume chart for the United States: The NICHD Fetal Growth Studies-Singletons. 38
30790566 2019
28
Segmental villous mineralization: A placental feature of fetal vascular malperfusion. 38
31358342 2019
29
Superior Vena Cava Syndrome and Hypoxic Ischemic Encephalopathy Secondary to a Massive, Right-Sided Immature Cervical Teratoma. 38
31335287 2019
30
Polyhydramnios among women in a cluster-randomized trial of ultrasound during prenatal care within five low and low-middle income countries: a secondary analysis of the first look study. 38
31331296 2019
31
Prenatal detection of esophageal atresia: A systematic review and meta-analysis. 38
30659586 2019
32
The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found? 38
31046133 2019
33
A clinical scoring system to predict the need for extensive resuscitation at birth in very low birth weight infants. 38
31200679 2019
34
Evaluation of cord blood creatine kinase (CK), cardiac troponin T (cTnT), N-terminal-pro-B-type natriuretic peptide (NT-proBNP), and s100B levels in nonreassuring foetal heart rate. 38
31195859 2019
35
Predictive Factors for Perinatal Outcomes of Infants Diagnosed With Micrognathia Antenatally. 38
31159574 2019
36
Twin pregnancy in a patient on chronic haemodialysis who already had three pregnancies. 38
30478508 2019
37
Predictors of a successful external cephalic version: A population-based study of Washington state births. 38
30150151 2019
38
Fasting and post-prandial plasma glucose screening for gestational diabetes mellitus. 38
31210349 2019
39
Amnioreduction in cases of polyhydramnios: Indications and outcomes in singleton pregnancies without fetal interventions. 38
31160132 2019
40
What's Happening When the Pregnancies Are Not Terminated in Case of Anencephalic Fetuses? 38
31019627 2019
41
Antenatally-detected liver cysts: Causes and characteristics, indications for intervention. 38
31097306 2019
42
A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis. 38
31016912 2019
43
Physiological and pathological impact of AQP1 knockout in mice. 38
31023968 2019
44
Prognostic factors of death in children during the first year of life due to congenital diaphragmatic hernia: analysis of a hospital cohort from 2005 to 2015. 38
31029681 2019
45
Prenatal and perinatal risk factors and the clinical implications on autism spectrum disorder. 38
29950101 2019
46
Stillbirths in women with pre-gravid obesity. 38
30496140 2019
47
Relationship between higher intra-amniotic pressures in polyhydramnios and maternal symptoms. 38
30797177 2019
48
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. 38
29893154 2019
49
Ultrasound evaluation of fetal critical aortic stenosis using the left atrium area/cardiac area ratio and the Doppler patterns in the pulmonary veins. 38
30288637 2019
50
Trends and risk factors of stillbirth in Taiwan 2006-2013: a population-based study. 38
30734865 2019

Variations for Polyhydramnios

ClinVar genetic disease variations for Polyhydramnios:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;t(10;15)(q25.2;q11.2) Translocation Pathogenic
2 MTM1 NM_000252.2(MTM1): c.1262G> T (p.Arg421Leu) single nucleotide variant Pathogenic X:149828138-149828138 X:150659665-150659665
3 GLDN NM_181789.4(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 15:51696600-51696600 15:51404403-51404403
4 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 11:2606494-2606494 11:2585264-2585264
5 ABCC8 NM_000352.5(ABCC8): c.1024G> T (p.Gly342Trp) single nucleotide variant Likely pathogenic rs763028380 11:17474818-17474818 11:17453271-17453271
6 STRADA NM_001003787.4(STRADA): c.792T> A (p.Ser264Arg) single nucleotide variant Uncertain significance rs1057519011 17:61784061-61784061 17:63706701-63706701

Expression for Polyhydramnios

Search GEO for disease gene expression data for Polyhydramnios.

Pathways for Polyhydramnios

Pathways related to Polyhydramnios according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.26 SLC12A1 KCNJ1 CLCNKB

GO Terms for Polyhydramnios

Cellular components related to Polyhydramnios according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.77 ZBTB42 SLC12A1 RAPSN MUSK MTM1 KCNQ1
2 membrane GO:0016020 9.53 STK11 SLC12A1 RAPSN MUSK MTM1 MAGED2
3 voltage-gated potassium channel complex GO:0008076 9.16 KCNQ1 KCNJ1

Biological processes related to Polyhydramnios according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 SLC12A1 KCNQ1 CLCNKB AQP3 AQP1
2 potassium ion transmembrane transport GO:0071805 9.58 KCNQ1 KCNJ1 AQP1
3 potassium ion transport GO:0006813 9.46 SLC12A1 KCNQ1 KCNJ1 AQP1
4 cell volume homeostasis GO:0006884 9.43 SLC12A1 AQP1
5 water transport GO:0006833 9.37 AQP3 AQP1
6 glycerol transport GO:0015793 9.26 AQP3 AQP1
7 excretion GO:0007588 8.96 KCNJ1 CLCNKB
8 ion transmembrane transport GO:0034220 8.92 SLC12A1 KCNJ1 CLCNKB AQP1

Molecular functions related to Polyhydramnios according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 water channel activity GO:0015250 8.62 AQP3 AQP1

Sources for Polyhydramnios

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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