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Gene: Osr1 MGI:1344424

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
odd-skipped related transcription factor 1
Synonyms:
Odd1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Osr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Osr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ... ORPHA:1909
Meacham Syndrome
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atr... OMIM:608978
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Fetal akinesia sequence, Bra... OMIM:618815
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Leopard Syndrome 1
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Dela... OMIM:151100
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal circulating estrog... ORPHA:90797
Transaldolase Deficiency
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Abnormalit... ORPHA:101028
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Ductus venosus agenesis, Situs inversus totalis, Right aortic arch, Patent f... OMIM:620642
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Lacti... OMIM:619003
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Polyhydramnio... ORPHA:2123
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Abnormality of the amniotic fluid, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:608540
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormal lung lobation, Abnormality of the uret... ORPHA:3378
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dext... ORPHA:99776
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Cardiomegaly, Nephrotic syndrome, Hydrops fetalis, Premature b... OMIM:269920
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Nonimmune hydrops fetalis, Adrenal hypoplasia, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Hydrops Fetalis
Generalized edema, Abnormality of the urinary system, Increased placental thickness, Lymphedema, ... ORPHA:1041
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Polyhydramnios, Ventricular septal defect... OMIM:616897
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Cherry red spot o... OMIM:256550
Ellis-Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Common atrium, Hypospadias, Epispadias OMIM:225500
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Increased nuchal translucency, Cryptorchidism, Ventr... ORPHA:261344
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Fetal chylothorax, Lymphedema,... OMIM:620014
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Neonatal de... OMIM:619534
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus OMIM:619143
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Sialidosis Type 2
Nephropathy, Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula... OMIM:115197
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal death, Ventricular septal def... OMIM:265380
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Hypoplasia of the bladder, Congenital pulmonary airway malformation, Renal ... OMIM:611812
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Delayed puberty, Aplasia of the ovary, Elevated c... OMIM:614324
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Monosomy 13Q34
Epistaxis, Hematochezia, Common atrium, Fetal pyelectasis, Pulmonic stenosis ORPHA:96168
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Mulibrey Nanism
Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Recurr... OMIM:253250
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, Tubulointerstitial fibros... OMIM:232500
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, External genital hypoplasia, Renal insuff... OMIM:615996
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... OMIM:608776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Ventr... OMIM:617021
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe... ORPHA:75249
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Lymphatic Malformation 13
Fetal pericardial effusion, Fetal pleural effusion, Lymphedema, Ascites, Mitral regurgitation, Pa... OMIM:620244
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart ... OMIM:614473
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Umbilical hernia, Horseshoe kidney, Intestinal lymphangiectasia, Lymphedema, V... OMIM:235510
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Achondrogenesis, Type Ib
Umbilical hernia, Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Li-Campeau Syndrome
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Atrial septal de... OMIM:619189
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:1263
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Patent ductus arter... OMIM:249670
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Perimembranous ventri... OMIM:620135
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs ORPHA:2204
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Achondrogenesis
Umbilical hernia, Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Polyhydramnios, Hy... ORPHA:932
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Decreased fetal movement, Ventricular sep... OMIM:253300
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Achondrogenesis Type 1B
Umbilical hernia, Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Polyhydramnios, Hy... ORPHA:93298
Meacham Syndrome
Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ventricular ... ORPHA:3097
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... OMIM:215045
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Patent duc... OMIM:618330
Achondrogenesis Type 1A
Umbilical hernia, Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Polyhydramnios, Hy... ORPHA:93299
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Truncus arteriosus, Atrial ... ORPHA:401935
Alg9-Cdg
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Tricuspid regurgitati... ORPHA:79328
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Abnormal heart morp... ORPHA:137667
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Abnormal heart morphology, Encephalocele, Cryptorchidism, Single u... ORPHA:1865
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Perineal... ORPHA:261529
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Gm1 Gangliosidosis
Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Cherry red spot of the macula, C... ORPHA:354
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperca... ORPHA:251274
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 57
Fetal pleural effusion, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopath... OMIM:620167
Free Sialic Acid Storage Disease
Ascites, Proteinuria, Nephrotic syndrome, Recurrent respiratory infections, Hydrops fetalis ORPHA:834
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Polyhydramnios, Atrial septal defect, Micropenis, Polycystic kidney dyspla... OMIM:616546
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Microphthalmia, Syndromic 9
Cryptorchidism, Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle... OMIM:601186
Cardiomyopathy, Familial Hypertrophic, 26
Atrioventricular block, Left anterior fascicular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... ORPHA:292
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular... OMIM:610198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,... OMIM:249270
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Umbilical hernia, Lymphedema, Ascites, Abnormal pleura morphology, Mu... ORPHA:584
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone stimulation t... OMIM:220210
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Hypoplasia of ... OMIM:619313
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... ORPHA:347
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Congenital Myopathy 11
Decreased fetal movement, Patent foramen ovale, Breech presentation, Atrial septal defect, Polyhy... OMIM:619967
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... ORPHA:79318
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding ao... OMIM:617022
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Myoglobinuria, Arrhythmia, Hydrops fetalis, Abn... OMIM:609015
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Atrial ... OMIM:615981
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Oligohydramnios, Increase... OMIM:618494
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Double outlet rig... OMIM:179613
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Lymphedema, Rena... OMIM:137940
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Cardiomyopathy, Umbilical hernia, Abnormal heart va... OMIM:253220
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Polyhydramnios, Recurrent respiratory infections, Hydrops fetalis, Pulm... OMIM:255320
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Hypoplastic nipples, Arrhythmia, Abnormalit... ORPHA:79329
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Hematuria, Proteinuria, Mitral valve... ORPHA:77261
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Edema, Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Prot... OMIM:212065
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Intracranial hemor... ORPHA:85212
Gm1-Gangliosidosis, Type I
Abnormality of the urinary system, Dilated cardiomyopathy, Cherry red spot of the macula, Hypertr... OMIM:230500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Pa... OMIM:263520
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Mitral regurgitation, Ventricular ... OMIM:615355
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... OMIM:605275
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect ORPHA:2477
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... OMIM:618652
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Atrial... OMIM:612946
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Congestive heart failure, Pleural effusion, Pericardial effusi... ORPHA:846
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Atelectasis, Tricuspid regurgitation, Retinal arterial tortuosity, Cryptorchidis... OMIM:620371
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous geni... OMIM:618142
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent for... ORPHA:555874
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Micropenis, Tachycardia, Hypertension, Patent du... OMIM:613870
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Adrenal calcification, Retinal h... ORPHA:51608
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Decreased circulating cortisol level, ... OMIM:618839
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal lung lobation, Polyhydramnios, Complete atrioventricular can... OMIM:236680
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Decreased circulating cor... OMIM:618835
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Cherry red spot of the macula, Aspiration pneumonia, Urinary glycosaminoglycan ex... ORPHA:79255
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Ascites, Abnormal cardiomyocyte morphology, Por... ORPHA:367
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic v... ORPHA:1120
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Ascites, Renal cyst, Hydrops fetalis, Polycystic kidney dysplasia,... OMIM:614091
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Fetal distress, Cryptorchidism, Coarctation of aorta, Pul... OMIM:614857
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... OMIM:618316
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:3375
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Ambiguous genitalia, Transposition of the great a... ORPHA:1913
Abruzzo-Erickson Syndrome
Cryptorchidism, Atrial septal defect, Coronal hypospadias, Abnormal localization of kidney, Hypos... ORPHA:921
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Renal insufficiency, Right aorti... OMIM:617478
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Fraser Syndrome 3
Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Urete... OMIM:617667
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect, Cryptorchidism, Abnormality of the kidney ORPHA:466926
Campomelia, Cumming Type
Multicystic kidney dysplasia, Lymphedema, Oligohydramnios, Multiple renal cysts, Hydrops fetalis,... ORPHA:1318
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Congestive heart failure, Atrial septal defect, Polyhydramnios, Diabetes insipidus ORPHA:500533
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abnormal umbilica... ORPHA:95699
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Subdural hemorrhage, Pulmonary embolis... ORPHA:79282
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... ORPHA:363444
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Cryptorchidism, Atrial septal defect OMIM:615502
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Umbilical hernia ORPHA:352490
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Ambiguous genit... OMIM:618901
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Mosaic Trisomy 16
Premature birth, Horseshoe kidney, Abnormal heart morphology, Large placenta, Ventricular septal ... ORPHA:1708
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Adams-Oliver Syndrome 5
Umbilical hernia, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement... OMIM:616028
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Congenital Syphilis
Pneumonia, Large placenta, Myocarditis, Nephrotic syndrome, Hydrops fetalis, Premature birth ORPHA:499009
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Abnormal renal... ORPHA:329224
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Stroke, Paroxysmal atrial tachycardia, Atria... ORPHA:49827
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth, Polyhydramnios OMIM:263630
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Pearson Syndrome
Glycosuria, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnormal heart... ORPHA:699
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Renal insufficiency, Patent foramen ovale, Renal cyst, Left ventricular hype... OMIM:613610
Thanatophoric Dysplasia Type 2
Increased nuchal translucency, Encephalocele, Atrial septal defect, Abnormality of the kidney, Ap... ORPHA:93274
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Hydrops fetalis OMIM:616738
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... OMIM:613834
Hennekam Syndrome
Chylothorax, Arteriovenous malformation, Lymphedema, Horseshoe kidney, Ascites, Pulmonary lymphan... ORPHA:2136
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Oligohydramnios, Vesicoureteral reflux, Pat... OMIM:616854
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Renal cyst, Abnormal vena cava morph... ORPHA:166035
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Atrial septal defect, Umbilical hernia ORPHA:1035
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Recurrent respiratory infections, Tetralogy of Fal... ORPHA:7
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect ORPHA:228399
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hypothyroidism, Micropenis, Hydrops fetalis, Hypospadias OMIM:613673
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Fetal distress, Vesicoureteral reflux, Polyhydramnios, Bilateral fe... OMIM:300868
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Pulmo... ORPHA:2519
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Atrial septal defect, Polyhydramnios, Diabetes insipidus, Premature birth OMIM:611087
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Renal cyst, Atrial septal defect, Meningocele, Anenceph... OMIM:611134
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Fetal polyuria, Hyperaldosteronism, Decreased glomerular filtra... OMIM:602522
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, Ventric... OMIM:264480
Fibrochondrogenesis 1
Hydrops fetalis, Patent foramen ovale, Stillbirth OMIM:228520
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Ectopic kidney, Ventricular septal defect ORPHA:268249
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ventricular sept... OMIM:617159
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Recurrent upper respiratory tract infections, Secundum atrial septal defect, Rec... OMIM:612541
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Fetal distress, Vesicoureteral reflux, Mitral regurgit... OMIM:615879
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anteri... ORPHA:75389
Gaucher Disease, Perinatal Lethal
Premature birth, Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimm... OMIM:608013
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Hypogonadism, Oligohydramnios... ORPHA:96170
Suleiman-El-Hattab Syndrome
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hydronephrosis, Atrial septal de... OMIM:618950
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double... ORPHA:3304
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encepha... ORPHA:1335
Fanconi Anemia, Complementation Group F
Pneumonia, Renal hypoplasia, Microphallus, Placental abruption, Decreased response to growth horm... OMIM:603467
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Hydr... ORPHA:79452
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Hypospadias OMIM:175700
Alg8-Cdg
Ascites, Oligohydramnios, Hydrops fetalis, Edema, Premature birth ORPHA:79325
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr... ORPHA:314588
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Cryptorchidism, Renal hypoplasia... ORPHA:52
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Situs invers... OMIM:267010
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nucha... ORPHA:3472
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome, Hyp... OMIM:202110
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia, Renal dysplasia, Stage 5 chronic kidney disease, Ren... OMIM:208540
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Bre... ORPHA:432
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Type I diabetes mellitus, Acute kidney ... ORPHA:275555
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Umbilical hernia, Abnormality of the ureter, Renal hypoplasia/aplasia, Ventri... ORPHA:1770
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Oli... OMIM:208085
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Neonatal death, Hyd... OMIM:314390
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Polyhydram... OMIM:615102
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Vesicoureteral reflux... ORPHA:163956
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... ORPHA:97289
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Aortic root aneurysm, Umbilical hernia, Tricuspid regurgitation, Cryptor... ORPHA:404443
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Cryptorchidism, Decreased fetal movement, Hypoplastic nipples, Absence of labia... OMIM:265000
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence, Atrial septal defect OMIM:620094
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Patent ductus arteriosus OMIM:620327
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Nonimmune hydrops fetalis OMIM:618265
Parkes Weber Syndrome
Abnormality of the urinary system, Arteriovenous malformation, Myelopathy, Urinary retention, Vas... ORPHA:90307
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ... ORPHA:209905
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Palmar telangiectasia, Noni... OMIM:607823
Seckel Syndrome 9
Pulmonary artery hypoplasia, Clitoral hypertrophy, Recurrent urinary tract infections, Decreased ... OMIM:616777
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Te... ORPHA:2473
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Renal tubular dysfunction, Decreased fetal mov... OMIM:614886
Chromosome 5Q12 Deletion Syndrome
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615668
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... ORPHA:231580
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Gaucher Disease
Aortic valve calcification, Cholelithiasis, Cherry red spot of the macula, Abnormal pericardium m... ORPHA:355
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Thanatophoric Dysplasia
Increased nuchal translucency, Atrial septal defect, Abnormality of the kidney, Polyhydramnios, P... ORPHA:2655
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyu... OMIM:613677
Transketolase Deficiency
Increased level of ribose in urine, Type I diabetes mellitus, Abnormal heart morphology, Patent f... ORPHA:488618
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Pal... ORPHA:2847
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Cherry red spot of the macula, Ascites... ORPHA:333
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Abnormal venous morphology, Aortic dissection, Umbilica... ORPHA:1900
Greenberg Dysplasia
Abnormal lung lobation, Large placenta, Increased nuchal translucency, Pancreatic islet-cell hype... OMIM:215140
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... ORPHA:2255
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Tricuspi... OMIM:619167
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hypoplasia of the bladder, Hydroureter, Peripheral pulmonary artery stenosi... OMIM:300707
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Decreased response to gr... OMIM:601808
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Meningocele, Hypoplasia of penis, Hydrops fetalis ORPHA:2879
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Carpenter Syndrome 1
Precocious puberty, Hydroureter, Umbilical hernia, Tetralogy of Fallot, External genital hypoplas... OMIM:201000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Atrial septal defect, H... ORPHA:2728
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Atrial se... OMIM:610733
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Cryptorchidism, Mit... OMIM:616564
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Shawl scrotum, Single umbi... OMIM:145420
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Vesicour... ORPHA:453499
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Schneckenbecken Dysplasia
Polyhydramnios, Umbilical hernia, Nonimmune hydrops fetalis, Stillbirth OMIM:269250
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Fetal distress, Ascites, Pleural effusion, Bradycardia, Abnormal r... OMIM:617397
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Aortic an... OMIM:620070
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia ORPHA:85166
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect OMIM:300887
Opitz Gbbb Syndrome
Abnormality of the urinary system, Aortic root aneurysm, Bifid scrotum, Umbilical hernia, Abnorma... ORPHA:2745
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Atrial septal defect ORPHA:51208
Congenital Rubella Syndrome
Type I diabetes mellitus, Abnormality of the pulmonary artery, Ventricular septal defect, Atrial ... ORPHA:290
Buratti-Harel Syndrome
Recurrent pneumonia, Dilation of Virchow-Robin spaces, Cryptorchidism, Atrial septal defect, Hypo... OMIM:619314
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Fetal pyelectasis, Atrial septal defect OMIM:301058
Transaldolase Deficiency
Clitoral hypertrophy, Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:606003
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Spinal dysraphism, Vesicouretera... OMIM:617660
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... ORPHA:244
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t... OMIM:610978
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Dextrocardia, Ventricular septal defect OMIM:618067
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Congestive heart failure, Neoplasm of the thyroid gland, Venous insuf... ORPHA:137608
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Umbilical hernia... OMIM:115470
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect OMIM:616898
Diamond-Blackfan Anemia
Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Radial artery aplasia, Ventricular s... ORPHA:124
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Hydronephrosis, ... OMIM:613001
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Hypertension, Left atrial enlargement, ... OMIM:614008
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Medullary nephrocalcinosis, Polyhydramnios... ORPHA:363528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Oligohydra... ORPHA:261311
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Renal duplication, Prote... ORPHA:33001
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cryptorchidism, Mitral stenosis, Ventricular septal defect, Truncus arterios... ORPHA:2008
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Patent ductus ar... ORPHA:457193
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Atrioventricular block, Mitral valve prolapse, Polycystic ovaries, Vent... ORPHA:371428
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Supernumerary nipple, Cryptorchidism, Atrial septal defect, Hyposp... OMIM:618109
Achondrogenesis, Type Ia
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... OMIM:200600
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Central hypothyroidism, Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Decreased tes... OMIM:300998
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Atrial sep... OMIM:301039
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased c... ORPHA:90790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ... OMIM:619769
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Kapur-Toriello Syndrome
Abnormality of the urinary system, Cryptorchidism, Ventricular septal defect, Hypoplastic labia m... OMIM:244300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension... OMIM:615830
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Cryptorchidism, Arrhythmia, Atrial septal defect, Polyhydramnios, Pu... OMIM:611553
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Cryptorchidism, Mitral regurgitation, Ventricular septa... ORPHA:254346
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Proteus Syndrome
Venous malformation OMIM:176920
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... OMIM:220500
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect OMIM:615476
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesico... OMIM:609053
Autoinflammatory Disease, Systemic, With Vasculitis
Premature birth, Parotitis, Cardiomegaly, Small vessel vasculitis, Periorbital edema, Hydrops fet... OMIM:620376
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis, Atrial septal defect, Hypoplastic aortic arch, Patent ductus ar... OMIM:614846
Atelis Syndrome 1
Atrial septal defect, Hypothyroidism, Bronchiectasis, Ventricular septal defect OMIM:620184
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Ventricular septal defec... OMIM:614576
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defect,... ORPHA:2248
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Ne... OMIM:620024
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Abnormal mitral valve mo... ORPHA:903
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Urinary incontinenc... ORPHA:358
Cystic Echinococcosis
Pulmonary cyst, Abnormality of the testis size, Abnormal heart morphology, Ovarian cyst, Abnormal... ORPHA:400
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k... ORPHA:567
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... OMIM:618870
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Nephroblastoma, Telangiectasia... ORPHA:276280
Ellis Van Creveld Syndrome
Hydroureter, Abnormal morphology of female internal genitalia, Emphysema, Abnormality of the uret... ORPHA:289
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Delayed puberty, Hypergonadotropic hypogonadism OMIM:300510
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:608572
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Bladder trabeculation, Atrial se... OMIM:614080
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... ORPHA:335
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Varicose ve... OMIM:314300
Kagami-Ogata Syndrome
Premature birth, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Fetal Akinesia Deformation Sequence 1
Premature birth, Small placenta, Increased nuchal translucency, Cryptorchidism, Short umbilical c... OMIM:208150
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic hypogonadism, ... ORPHA:251066
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Small scrotum, Central hypothyroidism, Xerostomia, Hyp... ORPHA:398069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Hypothyroidism, Atrial septal defect, Polyhydramnios, Recurrent lower respirato... OMIM:618005
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Patent ductus arteriosus, Atrial s... ORPHA:1842
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Congestive heart failure, Hyp... OMIM:617303
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Atelecta... OMIM:613177
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Joubert Syndrome 3
Stage 5 chronic kidney disease, Atrial septal defect, Nephronophthisis OMIM:608629
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Atrial septal defect OMIM:619356
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Pr... ORPHA:95430
Foix-Alajouanine Syndrome
Cervical myelopathy, Functional abnormality of the bladder, Urinary retention, Myelopathy, Venous... ORPHA:79093
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Abnormal heart m... ORPHA:485405
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:620211
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Rig... OMIM:614261
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Renal Fanconi syndrome, Hypercalciuria, Comp... OMIM:557000
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Fg Syndrome Type 1
Small pituitary gland, Umbilical hernia, Cryptorchidism, Mitral valve prolapse, Coarctation of ao... ORPHA:93932
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Edema, Atelectasis, Ascites, Patent foramen ovale, Neonatal death, Ventricular ... OMIM:269860
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... ORPHA:49
H Syndrome
Bronchiectasis, Hypogonadism, Decreased testicular size, Azoospermia, Varicose veins, Facial tela... ORPHA:168569
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Atrial sep... OMIM:617602
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Fanconi Anemia
Arteriovenous malformation, Cryptorchidism, Renal hypoplasia/aplasia, Atrial septal defect, Hypos... ORPHA:84
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cryptorchidism, Mitral valve prolapse, Pulmonary bulla, Cervical insufficiency, ... OMIM:130050
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Recurrent pneumonia, Ventricular septal defect, Hydronephrosis, Pulmonary a... OMIM:616449
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Abnormal renal morpho... ORPHA:477817
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis... ORPHA:85201
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Vaginal neop... ORPHA:1052
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia OMIM:618205
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Shashi-Pena Syndrome
Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Mild fetal ventriculomegaly, Atrial ... OMIM:617190
Tetraamelia Syndrome 1
Absent external genitalia, Pulmonary hypoplasia, Renal agenesis, Adrenal gland agenesis, Urethral... OMIM:273395
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:600987
Tarp Syndrome
Premature rupture of membranes, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot, Oligo... OMIM:311900
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Atrial septal defect, Polyhydramnios, Recurrent... ORPHA:1790
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Potocki-Lupski Syndrome
Abnormal renal morphology, Hypothyroidism, Atrial septal defect, Patent foramen ovale OMIM:610883
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Microp... OMIM:158170
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Spontaneous pneumothorax, Vertebral artery aneurysm, Umbilical hernia, D... OMIM:619656
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic o... ORPHA:110
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pat... OMIM:300963
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Thyroid adenoma, Thyroid carcinoma, Renal insufficiency, Glomerulonephritis, Hydrops ... ORPHA:3261
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Kaposi Sarcoma
Abnormal lung morphology, Lymphedema, Venous insufficiency ORPHA:33276
Renal Nutcracker Syndrome
Varicocele, Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulva... ORPHA:71273
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Recombinant 8 Syndrome
Small scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Pulmonary artery s... ORPHA:96167
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Asc... ORPHA:1667
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Thanatophoric Dysplasia Type 1
Increased nuchal translucency, Atrial septal defect, Abnormality of the kidney, Aplasia/Hypoplasi... ORPHA:1860
Mogs-Cdg
Generalized edema, External genital hypoplasia, Pulmonary edema, Cardiomegaly, Left ventricular h... ORPHA:79330
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular sept... ORPHA:26793
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
White Forelock With Malformations
Spina bifida occulta, Atrial septal defect ORPHA:2475
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Bifid scrotum, Oligohydramnios, Cryptorchidism, Nephroblastoma, Ren... OMIM:257300
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal cerebral vascular morphology, Abnormal female external genitalia mor... ORPHA:2637
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Female pseudohermaphroditism, Cryptorchidism, Ventricular ... ORPHA:1519
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Insulin-resistant diabete... ORPHA:769
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Abnormal heart morphology, Heparan sulfate excretion in urine, Hypertro... ORPHA:505248
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Ovarian... ORPHA:64739
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Vesicoureteral reflux, Cryptorchidism, Atrial septal defect, Micropenis, Patent du... OMIM:609625
Noonan Syndrome 13
Lymphedema, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Du... OMIM:619087
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hyp... OMIM:615300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydroneph... ORPHA:163979
Enlarged Parietal Foramina
Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology ORPHA:60015
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular se... OMIM:309801
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, ... OMIM:610443
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Umbilical hernia, Abnormal heart m... ORPHA:798
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, Recurrent respiratory infections,... OMIM:618282
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopat... ORPHA:369837
Restrictive Dermopathy 1
Premature rupture of membranes, Premature birth, Spontaneous chorioamniotic separation, Hydropic ... OMIM:275210
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... OMIM:620369
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Pa... OMIM:609942
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:617452
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, Umbilical hernia, Decreased serum test... ORPHA:97360
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Ogden Syndrome
Torsade de pointes, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aortic v... OMIM:300855
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:618354
Proteus-Like Syndrome
Bronchogenic cyst, Thymus hyperplasia, Abnormality of the parathyroid gland, Venous insufficiency... ORPHA:2969
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Hardikar Syndrome
Ventricular septal defect, Impaired growth-hormone response to glucagon stimulation test, Atrial ... OMIM:301068
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Second degree atrioventricular block, Breast aplasia, Heart block, Vesicour... OMIM:617063
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Cryptorchidism, Mitral valve pr... ORPHA:536532
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Trisomy 18
Abnormal morphology of female internal genitalia, Oligohydramnios, Cryptorchidism, Ventricular se... ORPHA:3380
Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydroneph... OMIM:300712
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Male urethral meatus stenosis, Ventricular septal defect, Hy... ORPHA:464738
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level... ORPHA:99889
Diets-Jongmans Syndrome
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Breech presentation, Interrupted inf... OMIM:618846
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:505237
Sotos Syndrome
Muscular ventricular septal defect, Cryptorchidism, Decreased fetal movement, Ventricular septal ... OMIM:117550
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Diphallia
Penoscrotal transposition, Renal malrotation, Bifid scrotum, Horseshoe kidney, Abnormal heart mor... ORPHA:227
Oculoectodermal Syndrome
Bladder exstrophy, Supernumerary nipple, Hypertrophic cardiomyopathy, Lymphedema, Transient ische... OMIM:600268
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... ORPHA:96148
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Coarctation of aorta, Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect ORPHA:261272
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defe... OMIM:610759
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Nephrocalcinosis, Bilateral cryptorchidism, Biventricular hypertrophy, Tric... OMIM:617402
Perrault Syndrome 2
Streak ovary OMIM:614926
Yunis-Varon Syndrome
Absent nipple, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Polyhydramnios, Cryptor... OMIM:216340
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Atrial septal defect, Patent ductus arteriosus after birth at te... ORPHA:251061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Clitoral hypertrophy, Fetal distress, Tricuspid regurgitation, Palpebral ed... OMIM:614866
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Thyroid agenesis, Hypot... ORPHA:3047
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Umbilical hernia, Ovarian cyst, Stroke, Polyhydra... OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Horseshoe kidney, Abnormal he... ORPHA:1465
Fryns Syndrome
Ectopic pancreatic tissue, Chylothorax, Renal agenesis, Bifid scrotum, Cryptorchidism, Ventricula... OMIM:229850
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Abnormality of the kidney, Tubulointerstitial nephri... ORPHA:459061
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Decreased response to growth hormone stimulation te... OMIM:614114
Adams-Oliver Syndrome 1
Aortic valve stenosis, Imperforate hymen, Hypoplastic left heart, Supernumerary nipple, Tetralogy... OMIM:100300
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis, Atrial septal defect, Unilate... OMIM:300968
Syndromic Diarrhea
Aortic regurgitation, Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morp... ORPHA:84064
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypospadi... ORPHA:363958
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Emphysema, Dilatation of the cerebr... OMIM:614816
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth... OMIM:620305
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Hypospadias, Atrial septal defect, Patent foramen ovale OMIM:619184
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus, Recurrent urinary tract... OMIM:611961
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ambiguous genital... ORPHA:93271
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Atrioventricular canal def... OMIM:274000
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Neonatal death, Bicuspid aortic valve, Hypoplastic labia majora, A... OMIM:612289
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Venous insufficiency, Hypertension, Telangiectasia of the skin, ... ORPHA:542643
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Shawl scrotum ORPHA:261279
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Hypospadias, Atrial septal defect ORPHA:436003
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... ORPHA:904
Restrictive Dermopathy
Premature birth, Ascending tubular aorta aneurysm, Small placenta, Large placenta, Short umbilica... ORPHA:1662
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Spinal dysraphism, Venous malformation, Nephroblastoma OMIM:612918
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:435638
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Cherry red spot of the macula OMIM:256540
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Patent ductus arteriosus, Oligosacchariduria, Atrial septal defect ORPHA:397709
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Nonimmune hydrops fetalis OMIM:266200
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Multicystic kidney dysplasia, Recurrent respiratory infect... ORPHA:1507
3Mc Syndrome 1
Supernumerary nipple, Ventricular septal defect, Hydronephrosis, Conjunctival telangiectasia, Atr... OMIM:257920
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bic... OMIM:121050
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... OMIM:190685
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Mitral valve prolapse, Ventricular septal defect, ... OMIM:617107
Tarp Syndrome
Horseshoe kidney, Tetralogy of Fallot, Cryptorchidism, Hydronephrosis, Persistent left superior v... ORPHA:2886
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Congestive heart failure, Right bundle bra... OMIM:617403
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial... ORPHA:261197
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Renal agenesis, Small placenta, Polyhydramnios, Cryptorchidis... OMIM:256520
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Umbilical hernia, Mitral atresia, Ventricular sept... OMIM:618164
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Ventricular septal defect, Breech presentation, Atrial septal defe... OMIM:270400
Noonan Syndrome
Dilatation of the renal pelvis, Abnormal EKG, Hypertrophic cardiomyopathy, Delayed menarche, Lymp... ORPHA:648
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Recurrent urinary tract infections, Truncus arteriosus, ... ORPHA:261330
Bohring-Opitz Syndrome
Supernumerary nipple, Vesicoureteral reflux, Ventricular septal defect, Hyperechogenic pancreas, ... OMIM:605039
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Abnormal lung lobation, Horseshoe kidney, Crossed f... ORPHA:2538
Orotic Aciduria
Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Orotic acid crystalluria OMIM:258900
Digeorge Syndrome
Ovarian cyst, Ventricular septal defect, Patent ductus arteriosus, Renal dysplasia, Cholelithiasi... OMIM:188400
Cardiofaciocutaneous Syndrome
Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cryptorchidism, Hydrone... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Macroorchidism, Atrial septal defect, Ventricular septal defect OMIM:309520
Thymic Carcinoma
Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Edema ORPHA:99868
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Vesicoureteral re... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Vesicoureteral re... ORPHA:352665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Vesicoureteral reflux, Atrial septal defect OMIM:614749
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Proteinuria, Atrial septal defect, Micropenis OMIM:619471
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Stroke, Varicose veins, Urinar... OMIM:125310
Wiedemann-Steiner Syndrome
Patent ductus arteriosus, Cryptorchidism, Atrial septal defect OMIM:605130
Mccune-Albright Syndrome
Precocious puberty, Renal phosphate wasting, Increased circulating cortisol level, Increased circ... ORPHA:562
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Nephroblastoma, ... ORPHA:500095
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Anomalous origin of left subclavian artery, Increased circulating prolactin c... ORPHA:438213
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Cry... ORPHA:96121
Kabuki Syndrome 2
Horseshoe kidney, Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulm... OMIM:300867
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat... ORPHA:230851
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Aortic valve stenosis, Abnormality of the urinary system, Vascular ring, Recurrent uri... ORPHA:353281
Charge Syndrome
Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, Hypoparathyroi... OMIM:214800
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cryptorchidism, Mitral valve prolapse, Hypospadias, Pulmonary artery aneurysm, A... ORPHA:286
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Supernumerary nipple, Umbilical hernia... ORPHA:373
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Spina bifida occulta, Atrial septal defect, Ventricular septal defect OMIM:617360
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ventricular septal defect, Ectopic k... OMIM:610832
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Atrial septal defect, Dextrocardia, Pat... OMIM:277380
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect OMIM:619383
Proteus Syndrome
Pulmonary cyst, Arteriovenous malformation, Venous malformation, Pulmonary bulla, Lymphedema, Sir... ORPHA:744
Degcags Syndrome
Chronic kidney disease, Cryptorchidism, Ventricular septal defect, Abnormal renal cortex morpholo... OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:457279
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Pulmon... OMIM:620663
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Hypospadi... OMIM:180849
Niemann-Pick Disease Type C
Fetal ascites, Aspiration pneumonia, Ascites, Foam cells, Hydrops fetalis, Abnormal lung morpholo... ORPHA:646
Hereditary Elliptocytosis
Cholelithiasis, Hydrops fetalis ORPHA:288
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Polycystic ovaries, Male pseudohe... ORPHA:90796
Orofaciodigital Syndrome I
Abnormal heart morphology, Myelomeningocele, Ovarian cyst, Proteinuria, Hypertension, Vascular di... OMIM:311200
Menkes Disease
Gastrointestinal hemorrhage, Umbilical hernia, Arterial stenosis, Venous insufficiency, Bladder d... ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Clitoral hypertrophy, Multicystic kidney dysplasia, Abnormal lun... ORPHA:818
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Atrial septal def... OMIM:147791
Congenital Factor Vii Deficiency
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Ovarian cyst, Intracranial hemorrhage, ... ORPHA:327
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Portal hypertension, Cryptorchidism, Patent foramen ovale, Hypothyroidism, Pulm... OMIM:620005
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Hoxha-Aliu Syndrome
Hydronephrosis, Perimembranous ventricular septal defect, Vesicoureteral reflux, Atrial septal de... OMIM:620662
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Type II diabetes mellitus, Chordee, Delayed puberty, Atrial septal defect, ... OMIM:618891
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Branchial cyst, Congenital hypothyroidism, Patent foramen ovale, Aplasia of the th... OMIM:620186
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Cryptorchidism, Mitral valve pro... OMIM:601776
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Septate vagina, Adrenal insufficiency, Cryptorchidism, M... OMIM:300166
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonary edema, Atrial septal d... OMIM:619991
Cardiospondylocarpofacial Syndrome
Horseshoe kidney, Decreased testicular size, Muscular ventricular septal defect, Vesicoureteral r... OMIM:157800
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Increas... OMIM:270450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... OMIM:213980
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hashimoto thyroiditis, Aplasia of the thym... OMIM:618223
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia ORPHA:1292
Ctcf-Related Neurodevelopmental Disorder
Fetal distress, Pulmonary hemorrhage, Cryptorchidism, Phimosis, Mitral regurgitation, Hypoplastic... ORPHA:363611
Townes-Brocks Syndrome
Abnormal vagina morphology, Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Abnormal... ORPHA:857
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Dilatation of the renal pelvis, Left ventricular hypertrophy, Atrial septal defect, Moderate to l... OMIM:620510
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Umbilical hernia, Hypertrophic cardiomyopathy, Decreased serum leptin, Hype... OMIM:269700
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Multi... OMIM:118450
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Atrial septal defect OMIM:619115
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal renal morphology, Hypoplastic labia majora, Fused labia minora, Atrial septal defect, Va... OMIM:207410
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Hypogonadotropic hypogonadism, Pulmonary va... OMIM:301030
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Cryptorchidism, Mesocardia... OMIM:136140
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Premature rupture of membranes, Aortic dissection, Vascular dilatation, Varicose veins, Pulmonic ... OMIM:618343
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Varicose veins, Stroke, Pulmonary... OMIM:263400
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Cardiomyopathy, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia,... OMIM:608594
Juvenile Polyposis Of Infancy
Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Melena, Abnormal heart morphology... ORPHA:79076
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypogonadism, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular s... OMIM:163950
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Bilateral cryptorchidism, Umb... OMIM:602535
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353277
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Encephalocele, Renal hypopl... ORPHA:2911
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Polyhydramnios, Cryptorchidism, Ventricular se... OMIM:607721
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Red urine, Nonimmune hydrops fetalis, Abnormality of the amniotic ... ORPHA:95159
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Proximal Spinal Muscular Atrophy
Decreased fetal movement, Recurrent infections due to aspiration, Atrial septal defect, Bradycard... ORPHA:70
Codas Syndrome
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Atrial septal defect, P... OMIM:600373
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Lethal Kniest-Like Dysplasia
Polyhydramnios, Breech presentation, Atrial septal defect, Edema ORPHA:2347
Hamamy Syndrome
Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism, Mitral regurgitati... OMIM:611174
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, Umbilical hernia, ... OMIM:107480
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Alazami Syndrome
Atrial septal defect ORPHA:319671
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Williams-Beuren Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:194050
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Ventricula... OMIM:617140
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:261236
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Decreased testicular size, Dilatation of the ventricular cavity, Cryptorchidism, Ventricular sept... ORPHA:459070
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis,... ORPHA:2044
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Renal hypoplasia/ap... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Renal hypoplasia/ap... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Renal hypoplasia/ap... ORPHA:99226
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Decreased serum insulin-like growth factor 1, Annular pancreas, Patent duct... OMIM:618162
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Renal hypoplasia/ap... ORPHA:881
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Oligohydramnios, Ventricular septal defect, Atrial septal defect, P... OMIM:300373
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder, Varicose veins ORPHA:100991
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Bilateral cryptorchidism, Supernumerary nipple, Tricuspid regurgitation, Abnormal left ventricle ... ORPHA:466791
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Meconium stained amniotic fluid, Premature rupture of membranes, Recurrent uri... OMIM:615873
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Penile hypospadias, Left ventri... OMIM:242840
Limb Body Wall Complex
Amniotic constriction ring, Abnormal heart morphology, Myelomeningocele, Abnormal insertion of um... ORPHA:2369
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
Wolf-Hirschhorn Syndrome
Abnormality of the urinary system, Abnormal heart valve morphology, Cryptorchidism, Decreased fet... ORPHA:280
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Bent Bone Dysplasia Syndrome 2
Micropenis, Atrial septal defect, Shawl scrotum, Thickened nuchal skin fold OMIM:620076
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Nonimmune hydrops fetalis, Porp... ORPHA:79277
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Hydronephrosis, Atrial septal defect, Polyhydramnios, Pulmonic steno... OMIM:115150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Urete... OMIM:619522
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Lymphedema, Hypogonadism, Abnormal heart valve morphology, Prominent scalp... ORPHA:536471
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Enlarged labia minora, Polyhyd... OMIM:606170
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect... OMIM:308205
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Oligohydramnios, Crypt... OMIM:210710
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Epistaxis, Aortic root aneurysm, Umbilical hernia, Cystocele, Mitral valve p... ORPHA:285
Diamond-Blackfan Anemia 1
Renal hypoplasia, Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atri... OMIM:105650
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hydroureter, Ureteral stenosis, Hypoplastic labia minora, Hydronephrosis, Hypoplas... OMIM:269150
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Carpenter Syndrome 2
Bilateral cryptorchidism, Supernumerary nipple, Umbilical hernia, Tricuspid regurgitation, Situs ... OMIM:614976
Myhre Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Atrial se... OMIM:139210
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Unilateral renal hypoplasia, Cryptorchidism, Ventricular septal defect, ... OMIM:615948
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Azoospermia, Calcification of... ORPHA:2072
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Rectovagin... OMIM:243800
Omodysplasia 1
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis, Atrial se... OMIM:258315
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland, Ventricular septal defect, Cephalohematoma, Atrial septal defec... OMIM:620558
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Unilateral cryp... OMIM:605822
Larsen Syndrome
Cryptorchidism, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Spina bifida oc... OMIM:150250
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Immunodeficiency 87 And Autoimmunity
Premature rupture of membranes, Dilated cardiomyopathy, Third degree atrioventricular block, Anas... OMIM:619573
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Secundum atrial septal defect, Recurrent urinary tract infections... OMIM:616268
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Vesicoureteral reflux, Atrial septal defect, Double inlet left ventricle, Pa... OMIM:619869
Simpson-Golabi-Behmel Syndrome, Type 1
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Arrhythmia, Atrial septal defect... OMIM:312870
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Kabuki Syndrome 1
Anoperineal fistula, Congenital hypothyroidism, Crossed fused renal ectopia, Ureteropelvic juncti... OMIM:147920
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Bifid scrotum, Horseshoe kidney, Cryptorchidism, Atrial ... OMIM:609945
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Bladder polyp, Abnormality of the ureter, Ovarian cyst, Pr... OMIM:175200
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Ventricular septal defect, Hypoplastic labia majora, Coarctation of aorta, ... OMIM:244450
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnor... ORPHA:821
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Renal hypoplasia, Hypoplasia of the ovary OMIM:619321
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615582
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Renpenning Syndrome 1
Renal hypoplasia, Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Phimosi... OMIM:309500
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Umbilical hernia, Tetralogy of Fallot, Crypt... OMIM:135900
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ventricular septal defect, Renal cyst, Atrial septal defect, Polyhydramnios, Ec... OMIM:117650
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Atrial septal defect, Ventricular... ORPHA:251014
Costello Syndrome
Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventricular septal defec... OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Aortic root aneurysm, Abnormal lu... OMIM:607872
Coffin-Siris Syndrome 4
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:614609
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Liposarcoma
Abnormality of the kidney, Varicose veins ORPHA:69078
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Ventri... OMIM:268300
Microphthalmia With Limb Anomalies
Horseshoe kidney, Cryptorchidism, Venous insufficiency ORPHA:1106
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Decreased fetal movement OMIM:614207
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Increased nuchal translucency, Renal ins... ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Fetal pyelectasis, Cryptorchidism, Dilation of Virchow-Robin spaces OMIM:619512
Ramos-Arroyo Syndrome
Atrial septal defect, Xerostomia, Patent ductus arteriosus ORPHA:1051
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Oligohydramnios, Ureteropelvic junction obstruction, Atrial septal defect,... OMIM:300896
Peters-Plus Syndrome
Renal hypoplasia, Umbilical hernia, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Hy... OMIM:261540
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Abnormal heart morphology, Cryptorchidism, Ventricular septa... OMIM:235730
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Venous malformation, Varicose veins OMIM:613089
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Spinal dysraphism, Premature birth, Hypertrophic cardiomyopathy,... ORPHA:96334
Clapo Syndrome
Lymphedema, Venous malformation, Varicose veins ORPHA:168984
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Fetal distress, Horseshoe kidney, Emphysema, Abnormal heart morphology... ORPHA:500150
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Cryptorchidism, Hydronephrosis, Atrial septal defect, Spina bifida, Stillbirth,... OMIM:304120
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Turnpenny-Fry Syndrome
Aortic regurgitation, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse,... OMIM:618371
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Oculodentodigital Dysplasia
Arrhythmia, Neurogenic bladder, Atrial septal defect OMIM:164200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Supernumerary nipple, Cryptorchidism, Ventricular septal de... OMIM:601803
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Cardiomyopathy, 1-minute APGAR score of 1, Hydronephrosis, Hypoplastic nipples, ... ORPHA:480880
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:613458
Occipital Horn Syndrome
Bladder diverticulum, Vascular dilatation, Venous insufficiency, Recurrent urinary tract infections ORPHA:198
Varicose Veins
Varicose veins OMIM:192200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Lymphedema, Pleural effusion, Atrial septal defect, Edema ORPHA:2526
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Decreased fetal movement, Ventricular septal defect, Aplasia ... OMIM:194190
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Glomuvenous Malformation
Abnormal renal morphology, Venous malformation, Arteriovenous malformation, Gastrointestinal arte... ORPHA:83454
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Partial anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect OMIM:301044
Norrie Disease
Uterine rupture, Cryptorchidism, Venous insufficiency, Delayed puberty, Diabetes mellitus ORPHA:649
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Osr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Osr1.

No publications found that use IMPC mice or data for Osr1.

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MGI Allele Allele Type Produced
Osr1em1(IMPC)Ccpcz Intra-exon deletion Mice

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