MCID: EXS017
MIFTS: 46

Exstrophy of Bladder

Categories: Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Exstrophy of Bladder

MalaCards integrated aliases for Exstrophy of Bladder:

Name: Exstrophy of Bladder 57
Bladder Exstrophy 12 53 59 6 15 73
Exstrophy of the Bladder 76 53 29 6
Classic Exstrophy of the Bladder 59

Characteristics:

Orphanet epidemiological data:

59
bladder exstrophy
Inheritance: Multigenic/multifactorial; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
upper urinary tract usually normal


HPO:

32
exstrophy of bladder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600057
Disease Ontology 12 DOID:0080174
ICD9CM 35 753.5
Orphanet 59 ORPHA93930
MESH via Orphanet 45 D001746
UMLS via Orphanet 74 C0005689
ICD10 via Orphanet 34 Q64.1
MedGen 42 C0005689
UMLS 73 C0005689

Summaries for Exstrophy of Bladder

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93930Disease definitionBladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.EpidemiologyThe prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported.Clinical descriptionCEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface. Urine drips from the ureteric orifices on the bladder surface. Other findings include pubic diastasis of various degrees with divergent rectus muscles and inguinal hernias. In males, the penis is short and broad with dorsal chordee. The urethral plate covers the whole dorsum of the penis from the open bladder to the glandular grove. Both corpora cavernosa are located beneath the urethral plate and the colliculus seminalis and the ductus ejaculatorii are visible as tiny openings in the area where the prostate is presumably dorsally located. Females present with a bifid clitoris next to the open urethral plate. The vaginal opening appears narrow and the perineum is shortened due to the anterior displacement of the vagina and anus. Women with CEB have a predisposition for vaginal or uterine prolapse. Spinal anomalies occur in about 7% of cases but gastrointestinal anomalies are rare in CEB.EtiologyCEB results from early abnormal development of the intra-abdominal wall and bladder during rupture of the cloacal membrane. Though the underlying cause remains still unknown, a developmental field defect with both genetic and environmental factors is likely to play a role.Diagnostic methodsDiagnosis is clinical. However, during follow-up, laboratory and imagining studies (such as ultrasound of the urogenital system, pelvic MRI or X-ray, voiding cystography and urodynamics) are useful to determine renal function and assess bladder capacity and detrusor function.Management and treatmentManagement is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Currently, several methods for bladder reconstruction with creation of an outlet resistance and epispadias repair (either as a staged or a one-stage approach) during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative.PrognosisAfter reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Though spontaneous voiding is the main issue, additional surgery might be needed to optimize bladder storage and emptying function. In cases of definite reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function constitute increasingly important issues for both sexes. Psychosocial and psychosexual outcome reflect the importance of long-term care (from birth into adulthood) from a multidisciplinary team of experts for parents and children with EEC to facilitate an adequate quality of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Exstrophy of Bladder, also known as bladder exstrophy, is related to epispadias and bladder exstrophy-epispadias-cloacal exstrophy complex. An important gene associated with Exstrophy of Bladder is ISL1 (ISL LIM Homeobox 1), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include prostate, kidney and bone, and related phenotypes are bowel incontinence and inguinal hernia

Disease Ontology : 12 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.

OMIM : 57 Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780. Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery. (600057)

Wikipedia : 76 Bladder exstrophy (also known as ectopia vesicae) is a congenital anomaly that exists along the spectrum... more...

Related Diseases for Exstrophy of Bladder

Diseases related to Exstrophy of Bladder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 epispadias 31.7 PARM1 TP63
2 bladder exstrophy-epispadias-cloacal exstrophy complex 29.3 CELSR3 CNTNAP3 ISL1 KRT13 LRIG2 MMP23B
3 cloacal exstrophy 11.4
4 adenocarcinoma 10.2
5 abdominal wall defect 10.1
6 limbal stem cell deficiency 10.1 KRT13 TP63
7 urofacial syndrome 1 10.0 LRIG2 TP63
8 renal hypodysplasia/aplasia 1 9.9
9 renal hypodysplasia/aplasia 3 9.9
10 anus, imperforate 9.8
11 omphalocele 9.8
12 trigonitis 9.8
13 orofacial cleft 9.6 TP63 WNT3 WNT9B
14 mayer-rokitansky-kuster-hauser syndrome 9.5 TP63 WNT9B

Graphical network of the top 20 diseases related to Exstrophy of Bladder:



Diseases related to Exstrophy of Bladder

Symptoms & Phenotypes for Exstrophy of Bladder

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
inguinal hernia

Genitourinary External Genitalia Male:
epispadias

Genitourinary External Genitalia Female:
bifid clitoris

Abdomen Gastrointestinal:
anteriorly displaced anus

Skeletal Pelvis:
pubic diastasis

Genitourinary Kidneys:
horseshoe kidney
unilateral renal agenesis

Genitourinary Bladder:
bladder exstrophy

Genitourinary Ureters:
megaureter

Abdomen External Features:
displaced umbilicus (inferiorly)

Muscle Soft Tissue:
rectus abdominis muscle separation
rectus fascia separation


Clinical features from OMIM:

600057

Human phenotypes related to Exstrophy of Bladder:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
2 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
3 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
4 vesicoureteral reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0000076
5 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
6 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
7 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
8 epispadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000039
9 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
10 abnormality of the anus 59 32 hallmark (90%) Very frequent (99-80%) HP:0004378
11 abnormality of the clitoris 59 32 hallmark (90%) Very frequent (99-80%) HP:0000056
12 bladder exstrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002836
13 horseshoe kidney 32 HP:0000085
14 abnormality of pelvic girdle bone morphology 32 HP:0002644
15 anteriorly placed anus 32 HP:0001545
16 abnormality of the ureter 59 Frequent (79-30%)
17 hydroureter 32 HP:0000072
18 unilateral renal agenesis 32 HP:0000122
19 bifid clitoris 32 HP:0030911

Drugs & Therapeutics for Exstrophy of Bladder

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transurethral Myoblast Injection for Urinary Incontinence in Children With Bladder Exstrophy Unknown status NCT02075216 Phase 1, Phase 2
2 Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced Incontinence Recruiting NCT01011777 Phase 1 MDC
3 Kidney Function in Patients With Bladder Exstrophy Unknown status NCT02192801
4 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
5 Prospective Cohort of Transitional Urology Patients Recruiting NCT03061084
6 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500 Not Applicable
7 Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality) Not yet recruiting NCT02759705

Search NIH Clinical Center for Exstrophy of Bladder

Genetic Tests for Exstrophy of Bladder

Genetic tests related to Exstrophy of Bladder:

# Genetic test Affiliating Genes
1 Exstrophy of the Bladder 29

Anatomical Context for Exstrophy of Bladder

MalaCards organs/tissues related to Exstrophy of Bladder:

41
Prostate, Kidney, Bone, Testes, Skin, Colon, Heart

Publications for Exstrophy of Bladder

Articles related to Exstrophy of Bladder:

(show top 50) (show all 175)
# Title Authors Year
1
Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex. ( 29502980 )
2018
2
Prolapsed bladder following rupture of patent urachal cyst, mimicking bladder exstrophy: a case report and literature review. ( 29318419 )
2018
3
Lessons learned from the management of adults who have undergone augmentation for spina bifida and bladder exstrophy: Incidence and management of the non-lethal complications of bladder augmentation. ( 28771821 )
2018
4
Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog. ( 29504860 )
2018
5
Preoperative care of Polypoid exposed mucosal template in bladder exstrophy: the role of high-barrier plastic wraps in reducing inflammation and polyp size. ( 29368874 )
2018
6
Long-term sexual health outcomes in men with classic bladder exstrophy. ( 28371167 )
2017
7
Surgical repair in case of covered exstrophy of bladder with complete duplication of lower genitourinary tract and visceral sequestration. ( 29135412 )
2017
8
Ureteric-urethral engraftment as a new surgical technique for management of incontinence in bladder exstrophy complex: A retrospective cohort. ( 28888708 )
2017
9
Challenges in salvaging urinary continence following failed bladder exstrophy repair in a developing country. ( 28262536 )
2017
10
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
11
Psychosexual development management of bladder exstrophy epispadias in complex patients. ( 28254239 )
2017
12
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. ( 27138190 )
2016
13
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. ( 26862292 )
2016
14
Low Dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys with Bladder Exstrophy Epispadias Complex. ( 28039050 )
2016
15
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. ( 27013921 )
2016
16
A Rare Case of an Adult with Untreated Bladder Exstrophy Presenting with Signet-Ring Cell Adenocarcinoma of Urinary Bladder. ( 28050437 )
2016
17
Incidence of Hip Dysplasia Associated With Bladder Exstrophy. ( 26090968 )
2016
18
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature. ( 27313937 )
2016
19
Gender Identity and Sex Role in Patients Operated on for Bladder Exstrophy-Epispadias. ( 26944302 )
2016
20
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
21
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. ( 27290615 )
2016
22
Impact of concomitant hernia repair at the time of complete primary repair of bladder exstrophy. ( 27264049 )
2016
23
Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex. ( 27896576 )
2016
24
Health-related Quality of Life and Mental Health in Adolescents and Adults Operated for Bladder Exstrophy and Epispadias. ( 25881863 )
2015
25
The Manchester-Fothergill and the Elevate PosteriorAr technique for the correction of a cervical elongation and large enterocele in a patient with bladder exstrophy and multiple surgeries. ( 25578871 )
2015
26
Sexual Function in Patients Operated on for Bladder Exstrophy and Epispadias. ( 25644933 )
2015
27
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. ( 26105184 )
2015
28
Bladder exstrophy-epispadias complex with adenocarcinoma in an adult patient: A case report. ( 26668615 )
2015
29
Re: Emotional and Behavioral Functioning in Children with Bladder Exstrophy-Epispadias Complex: A Developmental Perspective. ( 26292892 )
2015
30
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. ( 25763902 )
2015
31
Medicinal Leech Therapy for Glans Penis Congestion after Primary Bladder Exstrophy-Epispadias Repair in an Infant: a Case Report. ( 26433079 )
2015
32
Prenatal Vesico-allantoic Cyst Outcome - A Spectrum from Patent Urachus to Bladder Exstrophy. ( 26443202 )
2015
33
Complex bladder-exstrophy-epispadias management: Causes of failure of initial bladder closure. ( 25323185 )
2014
34
Congenital bladder exstrophy associated with Duogynon hormonal pregnancy tests-signal for teratogenicity or consumer report bias? ( 24389232 )
2014
35
Sub-urothelial polyp enucleation resection and urothelial auto-augmentation cystoplasty: a simple method for bladder exstrophy-epispadias complex reconstruction in bladder plate polyposis. ( 24802675 )
2014
36
Bladder exstrophy-epispadias complex and triple-X syndrome: Incidental finding or causality? ( 25200913 )
2014
37
Role of bulking agents in bladder exstrophy-epispadias complexes. ( 23519849 )
2013
38
Lower urinary tract symptoms (LUTS) in patients in adulthood with bladder exstrophy and epispadias. ( 23350915 )
2013
39
Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding. ( 23525294 )
2013
40
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. ( 24314177 )
2013
41
New insights into the pathogenesis of bladder exstrophy-epispadias complex. ( 23743131 )
2013
42
A survey to assess body and self-image in individuals with bladder exstrophy: a call for psychosocial support. ( 23429071 )
2013
43
Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: A developmental perspective. ( 23962430 )
2013
44
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. ( 23913486 )
2013
45
Bony abnormalities in classic bladder exstrophy: the urologist's perspective. ( 22105005 )
2013
46
Scar endometriosis in a patient with bladder exstrophy. ( 23701150 )
2013
47
Health related quality of life in adolescents with bladder exstrophy-epispadias as measured by the Child Health Questionnaire-Child Form 87. ( 22998914 )
2012
48
Long-term orthopedic outcomes in patients with epispadias and bladder exstrophy. ( 23084190 )
2012
49
Long-term follow-up (18-35 years) of male patients with history of bladder exstrophy (BE) repair in childhood: erectile function and fertility potential outcome. ( 22024420 )
2012
50
Severe hydronephrosis and dysuria-hematuria syndrome after 20 years of bladder exstrophy correction: a case report. ( 23198264 )
2012

Variations for Exstrophy of Bladder

ClinVar genetic disease variations for Exstrophy of Bladder:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD5 NM_003468.3(FZD5): c.267G> A (p.Met89Ile) single nucleotide variant Uncertain significance rs756316536 GRCh37 Chromosome 2, 208633197: 208633197
2 FZD5 NM_003468.3(FZD5): c.267G> A (p.Met89Ile) single nucleotide variant Uncertain significance rs756316536 GRCh38 Chromosome 2, 207768473: 207768473
3 WNT6 NM_006522.3(WNT6): c.570G> A (p.Arg190=) single nucleotide variant Likely benign rs786205888 GRCh37 Chromosome 2, 219736475: 219736475
4 WNT6 NM_006522.3(WNT6): c.570G> A (p.Arg190=) single nucleotide variant Likely benign rs786205888 GRCh38 Chromosome 2, 218871753: 218871753
5 WNT10A NM_025216.2(WNT10A): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs368280129 GRCh37 Chromosome 2, 219754816: 219754816
6 WNT10A NM_025216.2(WNT10A): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs368280129 GRCh38 Chromosome 2, 218890094: 218890094
7 WNT7A NM_004625.3(WNT7A): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance rs772935313 GRCh37 Chromosome 3, 13896112: 13896112
8 WNT7A NM_004625.3(WNT7A): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance rs772935313 GRCh38 Chromosome 3, 13854615: 13854615
9 WNT11 NM_004626.2(WNT11): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance rs758816226 GRCh38 Chromosome 11, 76187183: 76187183
10 WNT11 NM_004626.2(WNT11): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance rs758816226 GRCh37 Chromosome 11, 75898227: 75898227
11 LRP10 NM_014045.4(LRP10): c.754G> A (p.Gly252Ser) single nucleotide variant Uncertain significance rs568022752 GRCh37 Chromosome 14, 23344911: 23344911
12 LRP10 NM_014045.4(LRP10): c.754G> A (p.Gly252Ser) single nucleotide variant Uncertain significance rs568022752 GRCh38 Chromosome 14, 22875702: 22875702
13 WNT3 NM_030753.4(WNT3): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs786205889 GRCh37 Chromosome 17, 44846116: 44846116
14 WNT3 NM_030753.4(WNT3): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs786205889 GRCh38 Chromosome 17, 46768750: 46768750
15 WNT3 NM_030753.4(WNT3): c.271T> C (p.Cys91Arg) single nucleotide variant Likely pathogenic rs786205887 GRCh37 Chromosome 17, 44851085: 44851085
16 WNT3 NM_030753.4(WNT3): c.271T> C (p.Cys91Arg) single nucleotide variant Likely pathogenic rs786205887 GRCh38 Chromosome 17, 46773719: 46773719
17 46;XY;t(8;9)(p11.2;q13)dn Translocation Uncertain significance
18 ISL1 NM_002202.2(ISL1): c.479-4G> A single nucleotide variant Uncertain significance rs2303750 GRCh37 Chromosome 5, 50685476: 50685476
19 ISL1 NM_002202.2(ISL1): c.479-4G> A single nucleotide variant Uncertain significance rs2303750 GRCh38 Chromosome 5, 51389642: 51389642
20 ISL1 NM_002202.2(ISL1): c.137C> G (p.Ala46Gly) single nucleotide variant Uncertain significance rs755382547 GRCh37 Chromosome 5, 50680483: 50680483
21 ISL1 NM_002202.2(ISL1): c.137C> G (p.Ala46Gly) single nucleotide variant Uncertain significance rs755382547 GRCh38 Chromosome 5, 51384649: 51384649

Expression for Exstrophy of Bladder

Search GEO for disease gene expression data for Exstrophy of Bladder.

Pathways for Exstrophy of Bladder

Pathways related to Exstrophy of Bladder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.94 ISL1 WNT3 WNT9B

GO Terms for Exstrophy of Bladder

Biological processes related to Exstrophy of Bladder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic forelimb morphogenesis GO:0035115 9.4 TP63 WNT3
2 embryonic hindlimb morphogenesis GO:0035116 9.37 TP63 WNT3
3 neuron differentiation GO:0030182 9.33 ISL1 WNT3 WNT9B
4 anatomical structure formation involved in morphogenesis GO:0048646 9.32 TP63 WNT3
5 innervation GO:0060384 9.26 ISL1 LRIG2
6 negative regulation of intracellular estrogen receptor signaling pathway GO:0033147 8.96 ISL1 TP63
7 cellular response to retinoic acid GO:0071300 8.8 KRT13 WNT3 WNT9B

Molecular functions related to Exstrophy of Bladder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 8.96 WNT3 WNT9B
2 receptor ligand activity GO:0048018 8.62 WNT3 WNT9B

Sources for Exstrophy of Bladder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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