PBS
MCID: PRN038
MIFTS: 55

Prune Belly Syndrome (PBS)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Prune Belly Syndrome

MalaCards integrated aliases for Prune Belly Syndrome:

Name: Prune Belly Syndrome 56 12 74 52 58 73 36 29 6 43 15 71 32
Eagle-Barrett Syndrome 56 52 73 13 39
Abdominal Muscle Deficiency Syndrome 12 58 73
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 56 52
Eagle-Barret Syndrome 12 58
Egbrs 56 73
Pbs 56 73
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 73
Eagle-Barrett Syndrome; Egbrs 56
Obrisnksy Syndrome 12
Obrinsky Syndrome 58
Triad Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
prune belly syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (United States); Age of onset: Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Prune Belly Syndrome

NIH Rare Diseases : 52 Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear "prune-like"; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum, the condition may cause severe kidney and pulmonary (lung) problems incompatible with life (resulting in stillbirth ); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities. The cause of PBS is unknown. Treatment varies, but usually includes surgical management of symptoms.

MalaCards based summary : Prune Belly Syndrome, also known as eagle-barrett syndrome, is related to renal dysplasia and hydronephrosis. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related phenotypes are cryptorchidism and vesicoureteral reflux

Disease Ontology : 12 A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has material basis in homozygous mutation in the CHRM3 gene on chromosome 1q43.

OMIM : 56 In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011). (100100)

KEGG : 36 Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating urinary bladder contraction upon micturition.

UniProtKB/Swiss-Prot : 73 Prune belly syndrome: A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.

Wikipedia : 74 Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of... more...

Related Diseases for Prune Belly Syndrome

Diseases related to Prune Belly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 356)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 31.0 SALL1 PAX2 HNF1B
2 hydronephrosis 30.7 UPK2 PLEKHF1 PAX2 FLNA
3 patent ductus arteriosus 1 30.7 MYOCD FLNA ACTA2
4 renal hypoplasia 30.6 SALL1 PAX2 HNF1B
5 megacystis-microcolon-intestinal hypoperistalsis syndrome 30.3 PRUNE1 MYOCD LAX1 ACTG2 ACTA2
6 congenital anomalies of kidney and urinary tract 2 30.0 PLEKHF1 PAX2
7 vesicoureteral reflux 1 29.1 UPK2 SALL1 PRUNE1 PLEKHF1 PAX2 CSNK1D
8 cakut 28.7 SALL1 PAX2 HNF1B ESPN CSNK1D
9 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 12.7
10 obsolete: partial prune belly syndrome 12.5
11 interstitial cystitis 11.8
12 potter's syndrome 11.8
13 plastic bronchitis 11.5
14 visceral myopathy 11.5
15 cryptorchidism, unilateral or bilateral 11.0
16 oligohydramnios 10.7
17 triiodothyronine receptor auxiliary protein 10.6
18 urinary tract obstruction 10.6
19 end stage renal failure 10.6
20 posterior urethral valves 10.6
21 acute cystitis 10.6
22 abdominal wall defect 10.6
23 atresia of urethra 10.5
24 kidney disease 10.5
25 rapidly involuting congenital hemangioma 10.5
26 anus, imperforate 10.4
27 scoliosis 10.4
28 pyelonephritis 10.4
29 aortic aneurysm, familial thoracic 2 10.4 FLNA ACTA2
30 senile entropion 10.4 LAX1 FLNA
31 pectus excavatum 10.4
32 microcolon 10.4
33 constipation 10.4
34 encephalopathy 10.4
35 breast myoepithelial carcinoma 10.4 ACTG2 ACTA2
36 helix syndrome 10.3
37 senile ectropion 10.3 LAX1 FLNA
38 leprosy 3 10.3
39 hansen's disease 10.3
40 beckwith-wiedemann syndrome 10.3
41 volvulus of midgut 10.3
42 gastroschisis 10.3
43 vacterl association 10.3
44 47,xyy 10.3
45 chromosomal triplication 10.3
46 patent urachus 10.3
47 benign idiopathic neonatal seizures 10.3
48 ureterocele 10.3 PRUNE1 PAX2
49 heavy metal poisoning 10.3
50 endometrial clear cell adenocarcinoma 10.3 PAX2 HNF1B

Graphical network of the top 20 diseases related to Prune Belly Syndrome:



Diseases related to Prune Belly Syndrome

Symptoms & Phenotypes for Prune Belly Syndrome

Human phenotypes related to Prune Belly Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 vesicoureteral reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0000076
3 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
4 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
5 hydroureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000072
6 aplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0005199
7 congenital posterior urethral valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0010957
8 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
11 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
12 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
13 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
14 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
15 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
16 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
17 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
21 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
22 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
23 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
24 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
25 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
26 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
27 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
28 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
29 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
30 volvulus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002580
31 intestinal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011100
32 urogenital sinus anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100779
33 pectus carinatum 31 HP:0000768
34 xerostomia 31 HP:0000217
35 hydronephrosis 31 HP:0000126
36 abnormal heart morphology 31 HP:0001627
37 abnormality of the bladder 58 Very frequent (99-80%)
38 abnormality of the ureter 58 Very frequent (99-80%)
39 abnormality of the skin 31 HP:0000951
40 prune belly 31 HP:0004392

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
flared ribs

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
hydroureter

Head And Neck Eyes:
impaired pupillary constriction to light

Cardiovascular Heart:
congenital heart defect

Genitourinary Bladder:
distended bladder
posterior urethral valve
fetal urinary tract obstruction

Skin Nails Hair Skin:
wrinkled abdominal skin

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
congenital hip dislocation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Abdomen Gastrointestinal:
imperforate anus

Head And Neck Mouth:
dry mouth

Abdomen External Features:
absent abdominal musculature
visible intestinal pattern (so-called 'prune belly')
thin, lax, protruding abdominal wall

Skeletal Feet:
clubfoot

Clinical features from OMIM:

100100

Drugs & Therapeutics for Prune Belly Syndrome

Drugs for Prune Belly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 2 58-18-4 6010
2
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
3
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
4
Testosterone enanthate Approved Phase 2 315-37-7 9416
5 Anabolic Agents Phase 2
6 Hormone Antagonists Phase 2
7 Testosterone 17 beta-cypionate Phase 2
8 Antineoplastic Agents, Hormonal Phase 2
9 Androgens Phase 2
10 Hormones Phase 2
11
Mycophenolic acid Approved Phase 1 24280-93-1 446541
12 Antitubercular Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Antibiotics, Antitubercular Phase 1
15 Anti-Bacterial Agents Phase 1
16 Nutrients
17 Soy Bean
18 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Moderately Increased Testosterone Concentration on Physical Performance and Behaviour in Healthy Women - a Double-blind, Randomized, Placebo-controlled Study Completed NCT03210558 Phase 2 Testosterone cream 1% (Andro-Feme® );Placebo cream
2 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1 mycophenolate mofetil
3 Technique of Restriction of Blood Flow Associated With the Ergonomic Cycle of Upper Limbs in Women. A Randomized Pilot Study Completed NCT03618004
4 Healthy Weight Intervention in Female Athletes: A Randomized Controlled Trial Completed NCT01735994
5 Physiological and Behavioural Aspects of Insufficient Energy Availability in Females Endurance Athletes - Impact on Metabolism, Recovery and Health Completed NCT03593382
6 Validation of the Standardized Prenatal Clinical Management of Fetuses With Lower Urinary Tract Obstruction (LUTO) Recruiting NCT02315521
7 Effect of Acupuncture and Diet Modification on Amenorrhea in Female Athlete Triad Recruiting NCT03817827
8 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction - a Prospective Trial Terminated NCT02446184

Search NIH Clinical Center for Prune Belly Syndrome

Cochrane evidence based reviews: prune belly syndrome

Genetic Tests for Prune Belly Syndrome

Genetic tests related to Prune Belly Syndrome:

# Genetic test Affiliating Genes
1 Prune Belly Syndrome 29 CHRM3

Anatomical Context for Prune Belly Syndrome

MalaCards organs/tissues related to Prune Belly Syndrome:

40
Skin, Kidney, Lung, Testes, Heart, Prostate, Bone

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 674)
# Title Authors PMID Year
1
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. 61 56 6
15912376 2005
2
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 56 6
22077972 2011
3
Prune belly syndrome: expanding the phenotype. 61 56
18388787 2008
4
Patterns of inheritance in familial prune belly syndrome. 61 56
15922438 2005
5
The prune belly syndrome: a review of its etiology, defects, treatment and prognosis. 61 56
3047433 1988
6
Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. 61 56
6231862 1984
7
Prune belly syndrome--report of 47 cases. 61 56
6128960 1982
8
Prune-belly syndrome: report of three siblings. 61 56
7118560 1982
9
Eagle-Barrett syndrome. 61 56
7070906 1982
10
Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the "prune belly". 61 56
156252 1979
11
Prune belly syndrome and fetal ascites. 61 56
156413 1979
12
Prune-belly syndrome in a 54-year-old man. 61 56
16145 1977
13
Prune belly syndrome. 61 56
4402425 1972
14
The myopathology of the Prune belly syndrome. 61 56
4400845 1972
15
Prune-belly syndrome. Clinical findings and survival. 61 56
4239017 1969
16
The prune belly syndrome. 61 56
4382958 1967
17
An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. 56
6454342 1981
18
Pathogenesis of the prune-belly anomalad. 56
27602 1978
19
The prune belly anomaly: heterogeneity and superficial X-linkage mimicry. 56
144797 1977
20
Abdominal musculature deficiency syndrome prune belly. 56
4150949 1974
21
The right-sided syndrome: congenital absence of the right testis, kidney, and rectus. Urologic diagnosis and treatment. 56
4231058 1968
22
Congenital absence of the abdominal muscles with associated abnormalities of the genito-urinary tract. 56
13328166 1956
23
Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. 56
14797335 1950
24
Prune Belly Syndrome in the Pig (Sus scrofa domesticus). 61
31955808 2020
25
An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence. 61
30632118 2020
26
Long-term Outcome of Renal Transplantation in Patients with Congenital Lower Urinary Tract Malformations: A Multicenter Study. 61
30964838 2020
27
Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. 61
30776193 2019
28
Study of Prostate Growth in Prune Belly Syndrome and Anencephalic Fetuses. 61
31708209 2019
29
A Neonate with Prune Belly Syndrome and Limb Reduction Defect. 61
31177509 2019
30
Prune belly syndrome. 61
31780211 2019
31
Do prune-belly syndrome and neural tube defects change testicular growth? A study on human fetuses. 61
31358433 2019
32
Renal Arterial Doppler Resistive Index in Differentiating Obstructive and Non-Obstructive Hydronephrosis in Children at Tikur Anbessa Specialized Hospital, Ethiopia, October, 2018. 61
31666780 2019
33
Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect. 61
31193917 2019
34
Long term follow-up in a patient with prune-belly syndrome - a care compliant case report. 61
31415370 2019
35
Challenging diagnosis of prune belly syndrome antenatally: a case report. 61
31253193 2019
36
Management of Congenital Urethral Strictures In Infants. Case Series. 61
30058064 2019
37
Prune belly syndrome: current perspectives. 61
31496864 2019
38
Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients. 61
30113772 2019
39
Prune belly syndrome: Approaches to its diagnosis and management. 61
30560020 2018
40
Copy number variations in a population with prune belly syndrome. 61
30285310 2018
41
Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome. 61
30310713 2018
42
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
43
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
44
Pediatric patient with end-stage kidney disease secondary to Eagle-Barrett syndrome and metastatic unresectable hepatoblastoma treated successfully with chemotherapy and liver-kidney transplant. 61
29356335 2018
45
Rare copy number variants identified in prune belly syndrome. 61
29174092 2018
46
Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report. 61
30172052 2018
47
Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. 61
30018947 2018
48
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. 61
28779237 2018
49
Corrigendum: Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. 61
30140665 2018
50
Structural study of the bladder in fetuses with prune belly syndrome. 61
28598513 2018

Variations for Prune Belly Syndrome

ClinVar genetic disease variations for Prune Belly Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRM3 NM_000740.3(CHRM3):c.1173_1184delinsT (p.Pro392fs)indel Pathogenic 29626 rs587776862 1:240071924-240071935 1:239908624-239908635
2 MYOCD NM_001146312.2(MYOCD):c.343C>T (p.Arg115Ter)SNV Pathogenic 689480 17:12626253-12626253 17:12722936-12722936
3 MYOCD NM_001146312.2(MYOCD):c.1053_1054del (p.Asn351fs)deletion Pathogenic 689481 17:12649316-12649317 17:12745999-12746000
4 MYOCD NC_000017.11:g.12269251_12706280deldeletion Pathogenic 689482
5 FLNA NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr)SNV Likely pathogenic 800568 X:153580944-153580944 X:154352576-154352576
6 FLNA NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)SNV Likely pathogenic 801015 X:153580611-153580611 X:154352243-154352243
7 FLNA NM_001110556.2(FLNA):c.6707G>A (p.Gly2236Glu)SNV Uncertain significance 800569 X:153580611-153580611 X:154352243-154352243
8 MYOCD NM_001146312.2(MYOCD):c.1589A>G (p.Glu530Gly)SNV no interpretation for the single variant 689496 17:12656194-12656194 17:12752877-12752877
9 MYOCD NM_001146312.2(MYOCD):c.684dup (p.Ser229fs)duplication no interpretation for the single variant 689495 17:12642605-12642606 17:12739288-12739289

Expression for Prune Belly Syndrome

Search GEO for disease gene expression data for Prune Belly Syndrome.

Pathways for Prune Belly Syndrome

Pathways related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 GSK3B FLNA ACTG2 ACTA2
2 10.23 ACTG2 ACTA2

GO Terms for Prune Belly Syndrome

Cellular components related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.92 FLNA ESPN ACTG2 ACTA2

Biological processes related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 SALL1 PAX2 MYOCD HNF1B ACTA2
2 positive regulation of gene expression GO:0010628 9.77 MYOCD HNF1B GSK3B ACTG2 ACTA2
3 positive regulation of smooth muscle contraction GO:0045987 9.43 MYOCD CHRM3
4 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.32 SALL1 PAX2
5 pronephros development GO:0048793 9.26 PAX2 HNF1B
6 mesenchyme migration GO:0090131 9.16 ACTG2 ACTA2
7 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 8.96 PAX2 HNF1B
8 nephric duct formation GO:0072179 8.62 PAX2 HNF1B

Molecular functions related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tau-protein kinase activity GO:0050321 8.96 GSK3B CSNK1D
2 proximal promoter sequence-specific DNA binding GO:0000987 8.8 PAX2 MYOCD HNF1B

Sources for Prune Belly Syndrome

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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