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PBS
MCID: PRN038
MIFTS: 55

Prune Belly Syndrome (PBS)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Prune Belly Syndrome

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MalaCards integrated aliases for Prune Belly Syndrome:

Name: Prune Belly Syndrome 57 12 73 20 58 72 36 29 6 44 15 70 32
Eagle-Barrett Syndrome 57 20 72 13 39
Abdominal Muscle Deficiency Syndrome 12 58 72
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 57 20
Eagle-Barret Syndrome 12 58
Egbrs 57 72
Pbs 57 72
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 72
Eagle-Barrett Syndrome; Egbrs 57
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals are symptomatic from birth
distended bladder and hydronephrosis may be detected prenatally


HPO:

31
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Prune Belly Syndrome

About this section
GARD : 20 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 Salmonella Infection (Qiagen) and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The drugs Testosterone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related phenotypes are cryptorchidism and decreased fertility

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® : 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 05-Apr-2021)

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 : 72 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 : 73 Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of... more...

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Related Diseases for Prune Belly Syndrome

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

(show top 50) (show all 224)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 30.9 SALL1 PAX2 HNF1B
2 hydronephrosis 30.8 UPK2 TSHZ3 PAX2 FLNA
3 megacystis-microcolon-intestinal hypoperistalsis syndrome 30.7 MYOCD ACTG2 ACTA2
4 patent ductus arteriosus 1 30.5 MYOCD FLNA ACTA2
5 anorchia 30.4 RXFP2 INSL3
6 congenital anomalies of kidney and urinary tract 2 29.9 TSHZ3 ROBO2 PAX2
7 renal hypoplasia 29.7 SIX1 SALL1 ROBO2 PAX2 HNF1B
8 vesicoureteral reflux 1 29.6 UPK2 SIX1 SALL1 ROBO2 PAX2 HPSE2
9 renal hypodysplasia/aplasia 1 29.2 SIX1 SALL1 ROBO2 PAX2 HNF1B
10 cakut 28.7 SIX1 SALL1 ROBO2 PAX2 HPSE2 HNF1B
11 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 11.3
12 potter's syndrome 11.3
13 interstitial cystitis 11.2
14 visceral myopathy 11.2
15 cryptorchidism, unilateral or bilateral 11.0
16 oligohydramnios 10.7
17 urinary tract infection 10.7
18 urinary tract obstruction 10.6
19 triiodothyronine receptor auxiliary protein 10.6
20 posterior urethral valves 10.6
21 abdominal wall defect 10.6
22 atresia of urethra 10.5
23 acute cystitis 10.5
24 end stage renal disease 10.5
25 anus, imperforate 10.4
26 scoliosis 10.4
27 pyelonephritis 10.4
28 kidney disease 10.4
29 pectus excavatum 10.4
30 microcolon 10.4
31 constipation 10.4
32 vater/vacterl association 10.3
33 volvulus of midgut 10.3
34 gastroschisis 10.3
35 vacterl association 10.3
36 chromosomal triplication 10.3
37 encephalopathy 10.3
38 patent urachus 10.3
39 aortic aneurysm, familial thoracic 2 10.3 FLNA ACTA2
40 breast myoepithelial carcinoma 10.2 ACTG2 ACTA2
41 anorectal anomalies 10.2
42 beckwith-wiedemann syndrome 10.2
43 anencephaly 10.2
44 omphalocele 10.2
45 respiratory failure 10.2
46 clubfoot 10.2
47 bacteriuria 10.2
48 heart septal defect 10.2
49 urethral stricture 10.2
50 teratoma 10.2

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



Diseases related to Prune Belly Syndrome
Sources

Symptoms & Phenotypes for Prune Belly Syndrome

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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 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
3 vesicoureteral reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0000076
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 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
12 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
13 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
14 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
15 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
16 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
19 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
20 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
21 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
22 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
23 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
24 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
25 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
26 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
27 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
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 hydronephrosis 31 HP:0000126
35 abnormality of the bladder 58 Very frequent (99-80%)
36 abnormality of the ureter 58 Very frequent (99-80%)
37 abnormality of the skin 31 HP:0000951
38 abnormal heart morphology 31 HP:0001627
39 xerostomia 31 HP:0000217
40 prune belly 31 HP:0004392

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Prune Belly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 ACTA2 CHRM3 FLNA MYOCD NUDT19 PAX2
2 growth/size/body region MP:0005378 9.73 ACTG2 CHRM3 FLNA HNF1B HPSE2 LRIG2
3 digestive/alimentary MP:0005381 9.7 CHRM3 ESPN FLNA HPSE2 ROBO2 SALL1
4 renal/urinary system MP:0005367 9.36 CHRM3 HNF1B HPSE2 MYOCD PAX2 ROBO2
Sources

Drugs & Therapeutics for Prune Belly Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 2 58-22-0 6013
2 Hormone Antagonists Phase 2
3 Hormones Phase 2
4 Androgens Phase 2
5 Nutrients
6 Soy Bean
7 Phytoestrogens
8 Estrogens
9 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 Effect of Acupuncture and Diet Modification on Amenorrhea in Female Athlete Triad Unknown status NCT03817827
3 Technique of Restriction of Blood Flow Associated With the Ergonomic Cycle of Upper Limbs in Women. A Randomized Pilot Study Completed NCT03618004
4 Physiological and Behavioural Aspects of Insufficient Energy Availability in Females Endurance Athletes - Impact on Metabolism, Recovery and Health Completed NCT03593382
5 Healthy Weight Intervention in Female Athletes: A Randomized Controlled Trial Completed NCT01735994
6 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
7 Effect of Soy Phytoestrogens and Acupuncture on Bone Mineral Density in Female Athlete Triad at Adolescence Age Active, not recruiting NCT04748250
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

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Genetic Tests for Prune Belly Syndrome

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Genetic tests related to Prune Belly Syndrome:

# Genetic test Affiliating Genes
1 Prune Belly Syndrome 29 CHRM3
Sources

Anatomical Context for Prune Belly Syndrome

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MalaCards organs/tissues related to Prune Belly Syndrome:

40
Kidney, Testes, Bone, Uterus, Testis, Heart, Colon
Sources

Publications for Prune Belly Syndrome

About this section

Articles related to Prune Belly Syndrome:

(show top 50) (show all 690)
# Title Authors PMID Year
1
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. 61 57 6
15912376 2005
2
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. 6 57
31441039 2019
3
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 6 57
22077972 2011
4
Prune belly syndrome: expanding the phenotype. 57 61
18388787 2008
5
Patterns of inheritance in familial prune belly syndrome. 61 57
15922438 2005
6
The prune belly syndrome: a review of its etiology, defects, treatment and prognosis. 57 61
3047433 1988
7
Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. 57 61
6231862 1984
8
Prune belly syndrome--report of 47 cases. 61 57
6128960 1982
9
Prune-belly syndrome: report of three siblings. 57 61
7118560 1982
10
Eagle-Barrett syndrome. 61 57
7070906 1982
11
Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the "prune belly". 61 57
156252 1979
12
Prune belly syndrome and fetal ascites. 57 61
156413 1979
13
Prune-belly syndrome in a 54-year-old man. 57 61
16145 1977
14
Prune belly syndrome. 61 57
4402425 1972
15
The myopathology of the Prune belly syndrome. 61 57
4400845 1972
16
Prune-belly syndrome. Clinical findings and survival. 61 57
4239017 1969
17
The prune belly syndrome. 57 61
4382958 1967
18
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 6
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
Respiratory support in the absence of abdominal muscles: A case study of ventilatory management in prune belly syndrome. 61
33349558 2021
27
The role of intra-abdominal pressure in human testicular migration. 61
32758302 2021
28
Prune belly syndrome. 61
31780211 2020
29
Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. 61
32978001 2020
30
Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients. 61
32544553 2020
31
Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature. 61
33225270 2020
32
Successful sperm retrieval in prune belly syndrome. 61
32995285 2020
33
Unusual variant of pseudo prune belly syndrome. 61
33127698 2020
34
Study of prostate growth in prune belly syndrome and anencephalic fetuses. 61
31708209 2020
35
Demographics and baseline care among newly transitioning adult congenital urology patients. 61
32593616 2020
36
Are pressure pop-offs beneficial to the bladder in boys with posterior urethral valves? 61
32605875 2020
37
A novel technique of abdominoplasty for prune belly syndrome. 61
33342845 2020
38
Challenges in pediatric urologic practice: a lifelong view. 61
32328778 2020
39
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. 61
32085749 2020
40
Long-term Outcome of Renal Transplantation in Patients with Congenital Lower Urinary Tract Malformations: A Multicenter Study. 61
30964838 2020
41
Prune Belly Syndrome in the Pig (Sus scrofa domesticus). 61
31955808 2020
42
Prune-Belly syndrome, a rare case presentation in neonatology: about one case in Yaounde, Cameroon. 61
32821313 2020
43
An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence. 61
30632118 2020
44
Challenging cases in urology: Hematuria in a man with prune belly syndrome. 61
32801402 2019
45
Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. 61
30776193 2019
46
A Neonate with Prune Belly Syndrome and Limb Reduction Defect. 61
31177509 2019
47
Do prune-belly syndrome and neural tube defects change testicular growth? A study on human fetuses. 61
31358433 2019
48
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
49
Long term follow-up in a patient with prune-belly syndrome - a care compliant case report. 61
31415370 2019
50
Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect. 61
31193917 2019
Sources

Variations for Prune Belly Syndrome

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ClinVar genetic disease variations for Prune Belly Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRM3 NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg) SNV Pathogenic 974798 GRCh37: 1:240071103-240071103
GRCh38: 1:239907803-239907803
2 CHRM3 NM_000740.3(CHRM3):c.1173_1184delinsT (p.Pro392fs) Indel Pathogenic 29626 rs587776862 GRCh37: 1:240071924-240071935
GRCh38: 1:239908624-239908635
3 MYOCD NC_000017.11:g.12269251_12706280del Deletion Pathogenic 689482 GRCh37:
GRCh38:
4 MYOCD NM_001146312.2(MYOCD):c.1053_1054del (p.Asn351fs) Deletion Pathogenic 689481 rs1597802479 GRCh37: 17:12649316-12649317
GRCh38: 17:12745999-12746000
5 MYOCD NM_001146312.2(MYOCD):c.343C>T (p.Arg115Ter) SNV Pathogenic 689480 rs1597782599 GRCh37: 17:12626253-12626253
GRCh38: 17:12722936-12722936
6 MYOCD NM_153604.3(MYOCD):c.684dup (p.Ser229fs) Duplication Pathogenic 689479 rs760792013 GRCh37: 17:12642605-12642606
GRCh38: 17:12739288-12739289
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
Sources

Expression for Prune Belly Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Salmonella Infection (Qiagen) 63
10.39 ACTG2 ACTA2
2
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
9.9 ACTG2 ACTA2
Sources

GO Terms for Prune Belly Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 9.13 TSHZ3 LRIG2 FLNA
2 dynactin complex GO:0005869 8.62 ACTA2 ACTG2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 ACTA2 HNF1B MYOCD PAX2 SALL1 SIX1
2 sensory perception of sound GO:0007605 9.69 ESPN LRIG2 SIX1
3 kidney development GO:0001822 9.65 HNF1B SALL1 SIX1
4 cochlea morphogenesis GO:0090103 9.49 SIX1 PAX2
5 positive regulation of smooth muscle contraction GO:0045987 9.46 CHRM3 MYOCD
6 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.43 PAX2 SIX1
7 metanephric mesenchyme development GO:0072075 9.4 SIX1 PAX2
8 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.37 PAX2 SALL1
9 pronephros development GO:0048793 9.26 HNF1B PAX2
10 mesenchyme migration GO:0090131 9.16 ACTA2 ACTG2
11 branching involved in ureteric bud morphogenesis GO:0001658 9.13 PAX2 SALL1 SIX1
12 ureteric bud development GO:0001657 8.8 ROBO2 SALL1 SIX1
Sources

Sources for Prune Belly Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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