Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... |
OMIM:615524 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Hydrocephalus, Bilobed ... |
OMIM:612284 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Malrotation of small bowel, Se... |
ORPHA:139466 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Parachute... |
OMIM:618316 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Neo... |
OMIM:619003 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, D... |
ORPHA:2470 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... |
ORPHA:2847 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphology, Pulmonary h... |
OMIM:300978 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ... |
ORPHA:2437 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra... |
OMIM:314390 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neonatal death, Pe... |
OMIM:601186 |
Prune Belly Syndrome |
|
Abnormality of the uterus, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspla... |
ORPHA:2970 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia, Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Neural tube defec... |
ORPHA:79321 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept... |
ORPHA:1335 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Micropenis, Pulmonary hypoplasia, Microglos... |
OMIM:241800 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate |
ORPHA:2631 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renal hypoplasi... |
OMIM:248700 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Ovotestis, Pulmonary artery stenosis, Cleft palate, Sex r... |
OMIM:611812 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal ren... |
OMIM:616733 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Bifid scrotum, Hypospadias, Pyloric stenosis, Cryptorchidism, Penoscrotal transpos... |
OMIM:619148 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Abnormality of... |
ORPHA:991 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Pulmonary hypoplasia... |
OMIM:236500 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Holoprosencephaly, Neonatal death, Patent foramen ovale, Hepatomegaly, Hamartom... |
OMIM:269860 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Atrial septal defect, Scimitar anomaly, Neonatal death, Cong... |
OMIM:608978 |
Lethal Congenital Contracture Syndrome 11 |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:617194 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Absent uvula |
OMIM:616531 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Pulmon... |
OMIM:263210 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Horseshoe kidney, Abnormal ... |
ORPHA:314588 |
Thoracoabdominal Syndrome |
|
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of... |
OMIM:313850 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptor... |
ORPHA:2059 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u... |
ORPHA:887 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Ventricular septal defect, Maternal diabe... |
ORPHA:1708 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Intrauterine growth re... |
ORPHA:994 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Cryptorchidism, Abn... |
ORPHA:3027 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, High palate, Pulmonary hypoplasia |
OMIM:617468 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal car... |
ORPHA:1027 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Holopr... |
ORPHA:250999 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia |
ORPHA:2141 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Ventricular septal defect, Unilateral rena... |
ORPHA:411709 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia, Cryptorchidism |
OMIM:224410 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, Pulmonary ... |
ORPHA:1865 |
Penile Agenesis |
|
Atrial septal defect, Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal di... |
ORPHA:49 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Cleft palate, High p... |
ORPHA:2990 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Intrauterine... |
ORPHA:2655 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Cryptorchidism, Tracheoesop... |
ORPHA:3412 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Holoprosencephaly, Polycystic kidney dys... |
OMIM:619879 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intrauterine gro... |
ORPHA:3035 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology, Hy... |
ORPHA:1548 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, C... |
OMIM:616300 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,... |
OMIM:202650 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... |
OMIM:613490 |
Meacham Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Abnormal lung lobation, Conotruncal defect, Abnor... |
ORPHA:3097 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:2140 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Atrial septal defect, Anal stenosis, Clitoral hypertrophy, Hypospadias, Ventr... |
OMIM:617063 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ... |
ORPHA:1756 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... |
OMIM:214100 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Anal stenosis, Atrial septal defect, Ureteral hypoplasia, Patent ductus art... |
OMIM:614080 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Holop... |
OMIM:612530 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Abnormal external genitalia, Intestinal malr... |
ORPHA:1199 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal cyst, Atrial septal defect,... |
OMIM:229850 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... |
OMIM:249000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Pulmonary h... |
ORPHA:85201 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent p... |
OMIM:613177 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... |
ORPHA:2357 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia, Cleft palate |
OMIM:256050 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Polycystic k... |
OMIM:616546 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cle... |
ORPHA:90652 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrot... |
OMIM:145420 |
Renal Agenesis, Bilateral |
|
Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy... |
ORPHA:1848 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart, Cleft palate |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros... |
OMIM:614091 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, G... |
OMIM:270400 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, High palate, Pulmonary h... |
OMIM:616866 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoes... |
ORPHA:1834 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Per... |
ORPHA:79328 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricul... |
OMIM:263520 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart, Cleft palate |
OMIM:253290 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Tarp Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Cleft palate, Horseshoe kidney, Glossoptosis, Pulmonary hypo... |
ORPHA:2886 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Diaphanospondylodysostosis |
|
Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Intrauterine gro... |
OMIM:608022 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias, Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Dysphagia, Ne... |
OMIM:608013 |
Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat... |
ORPHA:1190 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Pulm... |
ORPHA:1692 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Complete atriov... |
OMIM:617925 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, Uterus didel... |
ORPHA:958 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly, Atrial s... |
ORPHA:818 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth... |
OMIM:184260 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lobation, Anomalous ... |
ORPHA:1120 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Primary amenorrhea, Bicornuate uterus, Pulmonary hypoplasia, Vaginal atresia |
OMIM:191830 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Hypospadias, Bicuspid... |
ORPHA:1596 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Urethral atresia, High palate, Enceph... |
ORPHA:2052 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Myelomeningocele... |
OMIM:219000 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... |
ORPHA:3384 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Tetrasomy 9P |
|
Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Absent gallbladder, ... |
ORPHA:3310 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Adrenal hypoplasia, Unilateral renal agenesis, Hydronephrosis, Mild intrauterine growth retardati... |
OMIM:308050 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Perimembranous... |
ORPHA:83617 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Submucous cleft hard palate, Cleft palate, Hypogonadis... |
ORPHA:2671 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
OMIM:601612 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Hypospadias, Recurrent pneumonia, Abnormality of the ureter,... |
ORPHA:798 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Pulmona... |
OMIM:619351 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... |
OMIM:208500 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Dysphagia... |
OMIM:222300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Peripheral ... |
OMIM:273395 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Gastroesophage... |
OMIM:612289 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Holopros... |
ORPHA:93274 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Neonatal death, Intrauterine growth reta... |
OMIM:251230 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... |
ORPHA:2753 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Hydranencephaly, ... |
ORPHA:2570 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... |
ORPHA:2211 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hypoplasia |
ORPHA:3309 |
Jeune Syndrome |
|
Renal insufficiency, Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Nephronophthisis,... |
ORPHA:474 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Genitopatellar Syndrome |
|
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dys... |
OMIM:606170 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Maternal diabetes, Cleft palate, Aplasia/Hypoplasia of the lungs, Ec... |
ORPHA:2549 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia... |
OMIM:271520 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate, Hypoplastic nipp... |
OMIM:265000 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo... |
ORPHA:99050 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Hiatus he... |
ORPHA:2538 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou... |
ORPHA:83628 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Renal hypoplasia, Cleft palate, High palate, Pulmonary hypoplasia, U... |
OMIM:618975 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br... |
ORPHA:980 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Patent ductus a... |
ORPHA:141127 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplasia of the lungs, Anal atresia |
ORPHA:2063 |
Raine Syndrome |
|
Hydroureter, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, N... |
OMIM:259775 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Intrauterine growth retardation, Cleft palate, Aplasia/Hypoplasia of ... |
ORPHA:2145 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypo... |
ORPHA:3301 |
Restrictive Dermopathy |
|
Ureteral duplication, Atrial septal defect, Hypospadias, Dextrocardia, Aplasia/Hypoplastia of the... |
ORPHA:1662 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Decreased response to growth hormone stimulation... |
ORPHA:1263 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Tetraploidy |
|
Cleft palate, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Intrauterine gro... |
ORPHA:3305 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... |
OMIM:620025 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicornuate uterus, Hig... |
OMIM:200980 |
Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Hydrocephalus, Cryptorchidism, Cleft palate, Stillbirth, High palate, Short ... |
OMIM:208150 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis... |
OMIM:618021 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Greenberg Dysplasia |
|
Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ... |
OMIM:215140 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Hypogona... |
ORPHA:536471 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Congenital hepat... |
ORPHA:93271 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate |
ORPHA:3429 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Atrial septal defect, Hypospadias, Adrenal hypoplasia, Patent ductus arteri... |
OMIM:275210 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... |
ORPHA:90291 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Abnormality of female external genitalia, Vaginal... |
ORPHA:1112 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... |
ORPHA:93929 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Oral leukoplakia, Pulmonary fibrosis |
OMIM:618165 |
Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia |
OMIM:267430 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, External genital hypoplasia, Large... |
ORPHA:96334 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Pleural effusion, High palate, Pulmonary hypoplasia |
OMIM:620369 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia, Cirrhosis |
OMIM:613987 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate |
ORPHA:2635 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholog... |
ORPHA:289 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Atelectasis, Hydrocephalus, Mitral valve prolapse, High palate, Pulmonar... |
ORPHA:536467 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia |
ORPHA:932 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:86822 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Proteinuria, Ventricul... |
ORPHA:2162 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Protruding tongue |
OMIM:200600 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Pat... |
ORPHA:2092 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia |
ORPHA:93298 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Oeis Complex |
|
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Hydrocephalus, A... |
OMIM:258040 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia |
ORPHA:93299 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... |
OMIM:305400 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia |
OMIM:601559 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Intestinal obstruction, Hydrocephalus, Noncommunicating hydrocep... |
ORPHA:666 |
Achondroplasia |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:100800 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Pulmonary hypoplasia, Cleft palate |
ORPHA:56304 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Cleft palate, Aplasia/Hypoplasia... |
ORPHA:2167 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Dysphagia, Testicular atrophy |
OMIM:300322 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Aganglionic megacolon, Hypospadias, Bicuspid aortic valve, High, narrow palate, Rect... |
OMIM:309800 |
Pallister-Killian Syndrome |
|
Small scrotum, Renal cyst, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Hypospadias... |
OMIM:601803 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2311 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:1860 |
Lethal Congenital Contracture Syndrome 9 |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Short umbilical cord |
OMIM:616503 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia, Protruding tongue |
ORPHA:50945 |
Alagille Syndrome |
|
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:52 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am... |
OMIM:157640 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,... |
OMIM:164210 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Hypospadias, Abnormal heart valve morphology, Cryptorchidism, A... |
ORPHA:280 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia |
ORPHA:86309 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig... |
ORPHA:3063 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis |
ORPHA:800 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Deafness, Autosomal Dominant 80 |
|
|
OMIM:619274 |