PBS
MCID: PRN038
MIFTS: 57

Prune Belly Syndrome (PBS)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Prune Belly Syndrome

MalaCards integrated aliases for Prune Belly Syndrome:

Name: Prune Belly Syndrome 57 11 19 19 58 75 73 28 5 43 14 38 71 31 33
Abdominal Muscle Deficiency Syndrome 11 58 73 33
Eagle-Barrett Syndrome 57 19 73 33
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 57 19
Urethral Obstruction Sequence 19 71
Eagle-Barret Syndrome 11 58
Obrinsky Syndrome 58 33
Triad Syndrome 58 33
Egbrs 57 73
Pbs 57 73
Renal Dysplasia or Hydronephrosis, Oligohydramnios and Subsequent Lung Hypoplasia Due to Urethral Obstruction 19
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 73
Abdominal Muscular Deficiency Syndrome 33
Abdomen Muscular Deficiency Syndrome 33
Early Urethral Obstruction Sequence 19
Abdomen Muscle Deficiency Syndrome 33
Abdominal Muscle Aplasia Syndrome 33
Obrisnksy Syndrome 11
Euos 19

Characteristics:


Inheritance:

Autosomal dominant,X-linked recessive 58 , Autosomal recessive 57

Prevelance:

1-9/100000 (Italy, Canada, United States) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
affected individuals are symptomatic from birth
distended bladder and hydronephrosis may be detected prenatally


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Prune Belly Syndrome

GARD: 19 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.

MalaCards based summary: Prune Belly Syndrome, also known as abdominal muscle deficiency syndrome, is related to visceral myopathy 1 and vesicoureteral reflux. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3), and among its related pathways/superpathways are PAK Pathway and Cardiac conduction. The drugs Testosterone and Hormones have been mentioned in the context of this disorder. Affiliated tissues include lung, smooth muscle and skin, and related phenotypes are cryptorchidism and decreased fertility

Orphanet: 58 A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.

Disease Ontology: 11 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®: 57 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) (Updated 08-Dec-2022)

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

Wikipedia: 75 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 307)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy 1 32.0 MYLK MYH11 LMOD1 ACTG2
2 vesicoureteral reflux 30.7 UPK2 PAX2 LRIG2 HPSE2 HNF1B
3 microcolon 30.5 MYLK MYH11 LMOD1 ACTG2
4 cakut 30.4 UPK2 PAX2 HPSE2 HNF1B
5 hydronephrosis 30.4 UPK2 TSHZ3 PAX2 MYLK MYH11 LMOD1
6 aortic aneurysm, familial thoracic 4 30.3 MYH11 FLNA ACTA2
7 patent ductus arteriosus 1 30.2 MYOCD MYLK MYH11 FLNA ACTA2
8 aortic aneurysm, familial thoracic 1 29.6 TAGLN MYOCD MYLK MYH11 FLNA ACTG2
9 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 29.4 TAGLN MYOCD MYLK MYH11 LRIG2 LMOD1
10 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 11.4
11 potter's syndrome 11.3
12 interstitial cystitis 11.1
13 cryptorchidism, unilateral or bilateral 11.0
14 urethral stricture 10.8
15 oligohydramnios 10.7
16 urinary tract infection 10.7
17 renal dysplasia 10.7
18 gastroschisis 10.7
19 urinary tract obstruction 10.7
20 posterior urethral valves 10.6
21 anus, imperforate 10.6
22 end stage renal disease 10.5
23 atresia of urethra 10.5
24 twin-reversed arterial perfusion sequence 10.5
25 chronic kidney disease 10.5
26 scoliosis 10.5
27 pyelonephritis 10.5
28 bladder neck obstruction 10.5
29 kidney disease 10.5
30 vater/vacterl association 10.4
31 pectus excavatum 10.4
32 renal hypoplasia 10.4
33 urinary system disease 10.4
34 volvulus of midgut 10.3
35 testicular germ cell tumor 10.3
36 orofaciodigital syndrome viii 10.3
37 omphalocele 10.3
38 anencephaly 10.3
39 atrophy of testis 10.3
40 vacterl association 10.3
41 encephalopathy 10.3
42 patent urachus 10.3
43 breast myoepithelial carcinoma 10.3 ACTG2 ACTA2
44 toe syndactyly, telecanthus, and anogenital and renal malformations 10.2
45 glass syndrome 10.2
46 anorectal anomalies 10.2
47 coloboma of optic nerve 10.2
48 beckwith-wiedemann syndrome 10.2
49 hirschsprung disease 1 10.2
50 down syndrome 10.2

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 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
2 decreased fertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000144
3 vesicoureteral reflux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000076
4 aplasia/hypoplasia of the lungs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006703
5 hydroureter 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000072
6 aplasia of the abdominal wall musculature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005199
7 congenital posterior urethral valve 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010957
8 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
9 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
10 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
11 recurrent urinary tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0000010
12 decreased testicular size 58 30 Frequent (33%) Frequent (79-30%)
HP:0008734
13 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000003
14 oligohydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001562
15 abnormal rib morphology 30 Frequent (33%) HP:0000772
16 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
17 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
18 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
19 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
20 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
21 congenital hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001374
22 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001762
23 anal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002023
24 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
25 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
26 abnormality of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000130
27 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
28 intestinal malrotation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002566
29 vertebral segmentation defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003422
30 volvulus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002580
31 intestinal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011100
32 urogenital sinus anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100779
33 pectus carinatum 30 HP:0000768
34 hydronephrosis 30 HP:0000126
35 abnormality of the ribs 58 Frequent (79-30%)
36 abnormality of the bladder 58 Very frequent (99-80%)
37 abnormality of the ureter 58 Very frequent (99-80%)
38 abnormality of the skin 30 HP:0000951
39 abnormal heart morphology 30 HP:0001627
40 xerostomia 30 HP:0000217
41 prune belly 30 HP:0004392

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
constipation

Genitourinary Ureters:
hydroureter

Head And Neck Mouth:
dry mouth

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skin Nails Hair Skin:
wrinkled abdominal skin (in some patients)

Genitourinary Kidneys:
hydronephrosis

Head And Neck Eyes:
impaired pupillary constriction to light

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

Genitourinary Bladder:
distended bladder
hyporeflexic bladder
areflexic bladder
posterior urethral valve

Clinical features from OMIM®:

100100 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Prune Belly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.9 CHRM3 HNF1B HPSE2 MYH11 MYLK MYOCD
2 muscle MP:0005369 9.5 ACTA2 CHRM3 HNF1B MYH11 MYLK MYOCD
3 digestive/alimentary MP:0005381 9.17 CHRM3 FLNA HNF1B HPSE2 MYH11 MYLK

Drugs & Therapeutics for Prune Belly Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 2 58-22-0 5408 6013
2 Hormones Phase 2
3 Hormone Antagonists Phase 2
4 Androgens Phase 2
5 Estrogens
6 Phytoestrogens
7 Antioxidants

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 Effect of Soy Phytoestrogens and Acupuncture on Bone Mineral Density in Female Athlete Triad at Adolescence Age Completed NCT04748250
3 Physiological and Behavioural Aspects of Insufficient Energy Availability in Females Endurance Athletes - Impact on Metabolism, Recovery and Health Completed NCT03593382
4 Technique of Restriction of Blood Flow Associated With the Ergonomic Cycle of Upper Limbs in Women. A Randomized Pilot Study Completed NCT03618004
5 Healthy Weight Intervention in Female Athletes: A Randomized Controlled Trial Completed NCT01735994
6 Prevention of Energy Deficit Syndrome in Female Athletes. Molecular Mechanisms Associated With Malnutrition: Oxidative Stress and Other Physiological, Physical and Psychological Alterations. Recruiting NCT05567211
7 The Effects of Short-term Low Energy Availability and Low Repetition High Impact Jumping on Markers of Bone Formation and Resorption in Young Females Recruiting NCT04790019
8 Effect of Acupuncture and Diet Modification on Amenorrhea in Female Athlete Triad Withdrawn NCT03817827

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 28 CHRM3

Anatomical Context for Prune Belly Syndrome

Organs/tissues related to Prune Belly Syndrome:

MalaCards : Lung, Smooth Muscle, Skin, Testes, Kidney, Uterus, Bone

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 780)
# Title Authors PMID Year
1
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. 62 57 5
15912376 2005
2
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. 57 5
31441039 2019
3
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 57 5
22077972 2011
4
Prune belly syndrome: expanding the phenotype. 62 57
18388787 2008
5
Patterns of inheritance in familial prune belly syndrome. 62 57
15922438 2005
6
The prune belly syndrome: a review of its etiology, defects, treatment and prognosis. 62 57
3047433 1988
7
Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. 62 57
6231862 1984
8
Prune belly syndrome--report of 47 cases. 62 57
6128960 1982
9
Prune-belly syndrome: report of three siblings. 62 57
7118560 1982
10
Eagle-Barrett syndrome. 62 57
7070906 1982
11
Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the "prune belly". 62 57
156252 1979
12
Prune belly syndrome and fetal ascites. 62 57
156413 1979
13
Prune-belly syndrome in a 54-year-old man. 62 57
16145 1977
14
Prune belly syndrome. 62 57
4402425 1972
15
The myopathology of the Prune belly syndrome. 62 57
4400845 1972
16
Prune-belly syndrome. Clinical findings and survival. 62 57
4239017 1969
17
The prune belly syndrome. 62 57
4382958 1967
18
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 5
31513549 2019
19
An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. 57
6454342 1981
20
Pathogenesis of the prune-belly anomalad. 57
27602 1978
21
The prune belly anomaly: heterogeneity and superficial X-linkage mimicry. 57
144797 1977
22
Abdominal musculature deficiency syndrome prune belly. 57
4150949 1974
23
The right-sided syndrome: congenital absence of the right testis, kidney, and rectus. Urologic diagnosis and treatment. 57
4231058 1968
24
Congenital absence of the abdominal muscles with associated abnormalities of the genito-urinary tract. 57
13328166 1956
25
Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. 57
14797335 1950
26
Prune-belly syndrome with severe lordosis. 62
36367149 2022
27
Medium and Long-Term Clinical Outcomes of Kidney Transplantation in Patients With Prune Belly Syndrome: A Single-Centre Experience. 62
36049630 2022
28
Technical details and long-term outcomes of P.A.D.U.A. for congenital urethral narrowing; a case series and review of the literature. 62
36424292 2022
29
Management of Abdominal Wall Defects. 62
36209747 2022
30
Study of Penis Structure and Development in Fetus With Prune Belly Syndrome. 62
35523289 2022
31
Female Athlete Triad and Male Athlete Triad Syndrome Induced by Low Energy Availability: An Animal Model. 62
35522259 2022
32
Dental treatment of patients with prune belly syndrome. 62
35526214 2022
33
Prune Belly Syndrome. 62
36225999 2022
34
Comments on the paper Surgical approach to prune belly syndrome: A review of our series and novel surgical technique. 62
35183452 2022
35
Response to letter to the editor re "Surgical approach to Prune-Belly syndrome: A review of our series and novel surgical technique". 62
35184942 2022
36
Robotic treatment of ureteropelvic junction obstruction in Eagle-Barrett Syndrome. 62
35429431 2022
37
Bladder Cancer in a Long-term Survivor of the Prune Belly Syndrome. 62
34883158 2022
38
Body composition and eating behavior in non-professional adolescent female dancers. 62
33619949 2022
39
Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion. 62
35198258 2022
40
Pregnant patient with prune belly syndrome: case report. 62
36000615 2022
41
Robotic abdominoplasty for abdominal wall lateral bulging repair in an adult prune belly syndrome patient: a novel approach. 62
34273010 2021
42
Third Renal Transplant in a Patient With Prune Belly Syndrome. 62
34993026 2021
43
Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions. 62
34261584 2021
44
Surgical approach to prune-belly syndrome: A review of our series and novel surgical technique. 62
34376330 2021
45
MP44-09 UNDERSTANDING PRUNE BELLY SYNDROME AT SINGLE CELL RESOLUTION. 62
34346772 2021
46
Modern management of and update on prune belly syndrome. 62
34016542 2021
47
Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia. 62
34158955 2021
48
Clinical characteristics of interstitial lung diseases positive to different anti-synthetase antibodies. 62
34106621 2021
49
Challenges in pediatric urologic practice: a lifelong view. 62
32328778 2021
50
A rare case report of prune belly syndrome with malnutrition. 62
33948190 2021

Variations for Prune Belly Syndrome

ClinVar genetic disease variations for Prune Belly Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYOCD NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter) SNV Pathogenic
689480 rs1597782599 GRCh37: 17:12626253-12626253
GRCh38: 17:12722936-12722936
2 MYOCD NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs) DEL Pathogenic
689481 rs1597802479 GRCh37: 17:12649316-12649317
GRCh38: 17:12745999-12746000
3 overlap with 3 genes NC_000017.11:g.12269251_12706280del DEL Pathogenic
689482 GRCh37: 17:12172568-12609597
GRCh38: 17:12269251-12706280
4 MYOCD NM_001146312.3(MYOCD):c.684dup (p.Ser229fs) DUP Pathogenic
689479 rs760792013 GRCh37: 17:12642605-12642606
GRCh38: 17:12739288-12739289
5 CHRM3 NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs) INDEL Pathogenic
29626 rs587776862 GRCh37: 1:240071924-240071935
GRCh38: 1:239908624-239908635
6 CHRM3 NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg) SNV Pathogenic
974798 rs1680093659 GRCh37: 1:240071103-240071103
GRCh38: 1:239907803-239907803
7 FLNA NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val) SNV Likely Pathogenic
801015 rs1603359091 GRCh37: X:153580611-153580611
GRCh38: X:154352243-154352243
8 FLNA NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr) SNV Likely Pathogenic
800568 rs1603359205 GRCh37: X:153580944-153580944
GRCh38: X:154352576-154352576
9 FLNA NM_001110556.2(FLNA):c.6707G>A (p.Gly2236Glu) SNV Uncertain Significance
800569 rs1603359091 GRCh37: X:153580611-153580611
GRCh38: X:154352243-154352243
10 CHRM3 NM_001375978.1(CHRM3):c.-313+2514G>A SNV Uncertain Significance
1696763 GRCh37: 1:239711563-239711563
GRCh38: 1:239548263-239548263

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
12.98 MYLK MYH11 HNF1B FLNA ACTG2 ACTA2
2
Show member pathways
12.5 MYLK MYH11 LMOD1 ACTG2 ACTA2
3
Show member pathways
12.11 MYLK MYH11 FLNA ACTG2 ACTA2
4
Show member pathways
11.79 MYLK ACTG2 ACTA2
5
Show member pathways
11.38 MYH11 ACTG2 ACTA2
6 10.91 ACTG2 ACTA2
7 10.9 MYLK MYH11 FLNA ACTG2 ACTA2
8 10.68 ACTG2 ACTA2
9 10.67 MYLK MYH11 LMOD1 ACTG2 ACTA2
10 10.16 RXFP2 INSL3

GO Terms for Prune Belly Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 pronephros development GO:0048793 9.62 PAX2 HNF1B
2 mesenchyme migration GO:0090131 9.56 ACTA2 ACTG2
3 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.46 PAX2 HNF1B
4 nephric duct formation GO:0072179 9.13 HNF1B PAX2
5 smooth muscle contraction GO:0006939 9.1 CHRM3 MYH11 MYLK

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.17 MYLK MYH11 LMOD1 FLNA TAGLN

Sources for Prune Belly Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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