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Gene: Mapk7 MGI:1346347

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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:
mitogen-activated protein kinase 7
Synonyms:
big MAP kinase 1,  BMK1,  ERK5,  b2b2346Clo,  Erk5-T

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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 Mapk7 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 Mapk7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
8P23.1 Duplication Syndrome
Pulmonic stenosis, Hydronephrosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Micropenis, Duplicated collecting system OMIM:620071
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... ORPHA:36382
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus... OMIM:615996
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Cardio... ORPHA:171445
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, ... OMIM:179613
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the shoulder girdle musculatur... ORPHA:206546
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Recurrent urinary tract infections, Polycystic kidney dyspl... OMIM:613095
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Intramuscular hematoma, Oral cavity bleeding, Ging... ORPHA:331
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic... ORPHA:1166
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Hydronephrosis, Skeletal muscle atrophy, Dilated cardiomyopat... OMIM:607598
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Camptodactyly, H... ORPHA:314588
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Secundum atrial septal defect, Ventr... OMIM:618901
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Coronary artery atherosclerosis, Hypertens... ORPHA:280679
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pericardial effusion, Congenital hypertrophy of ... OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Diabetic Embryopathy
Renal hypoplasia/aplasia, Transposition of the great arteries, Ureteral duplication, Abnormal aor... ORPHA:1926
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Intra... ORPHA:169805
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Noonan Syndrome 8
Patent ductus arteriosus, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis... OMIM:615355
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Distal amyotrophy, Persistent l... ORPHA:477817
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Fanconi Anemia, Complementation Group O
Renal cyst, Hydronephrosis, Abnormal heart morphology, Stage 5 chronic kidney disease, Small then... OMIM:613390
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Bicuspid aortic valve OMIM:182410
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Displacement of the... ORPHA:1727
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Hypertension, C... ORPHA:90065
Nemaline Myopathy 9
Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney, Congen... OMIM:613630
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defe... OMIM:620070
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Abnormal heart morphology, Flexion ... OMIM:263210
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Developmental And Epileptic Encephalopathy 109
Intrauterine growth retardation, Left ventricular hypertrophy OMIM:620145
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly OMIM:618804
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Left ventricu... OMIM:619040
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hypertrophic cardiomyopathy, Hyperechoge... OMIM:619902
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney ORPHA:83473
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Joint hemorrhage, Int... ORPHA:98878
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Ca... OMIM:300280
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of... OMIM:618316
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Tangier Disease
Hepatomegaly, Coronary artery atherosclerosis, Distal amyotrophy, Facial diplegia, Dry skin, Sple... OMIM:205400
Congenital Heart Block
Patent foramen ovale, Pericardial effusion, Patent ductus arteriosus, Intrauterine growth retarda... ORPHA:60041
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Hydroureter, Renal insufficiency, Abnormality of the b... ORPHA:2970
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Joubert Syndrome 39
Joint contracture of the 5th finger, Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Postnatal growth retardation, Abnormal left ventricle morphology, Premature ... OMIM:300845
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Polycystic kidney dysplasia, Atrial septal defect OMIM:608776
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy OMIM:540000
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypoplasia of penis, Generalized... ORPHA:66634
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Cardiac Diverticulum
Aortic valve stenosis, Abnormal heart morphology, Mitral valve prolapse, Umbilical hernia, Left v... ORPHA:1686
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Distal amyotrophy, Hypertrophic cardiomyopathy, Left ventricular hy... ORPHA:3208
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Hydronephrosis, Te... ORPHA:210122
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Decreased level of coenzyme Q10 in skeletal muscle, Left ventric... OMIM:614654
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyopathy, Hypertrophic cardiomyo... OMIM:608751
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Muscular ventricular septal defect, Unilateral renal agenesis OMIM:619227
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, C... ORPHA:157
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Facial palsy, Flexion contracture, Left ventricu... OMIM:613156
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Polycystic kidney dysplasia, Pancr... OMIM:208540
Tetrasomy 15Q26
Hypoplastic aortic arch, Camptodactyly, Hydronephrosis, Patent ductus arteriosus, Atrial septal d... OMIM:614846
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis ORPHA:98880
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrophy, Pallor OMIM:613561
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Scapular winging, Ethylmalonic ac... ORPHA:26791
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly, Horseshoe kidney, Renal cyst OMIM:614815
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial s... ORPHA:401935
Maternal Phenylketonuria
Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:2209
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Tubular luminal dilatation, Hyperechogenic kidneys, Ventricular septal defec... OMIM:219730
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... ORPHA:860
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Cardiomegaly, Long-cha... OMIM:608836
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy... ORPHA:169186
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, High, narrow palate, Arterios... OMIM:177850
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr... ORPHA:1457
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra... ORPHA:730
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab... ORPHA:2237
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri... OMIM:620511
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Sotos Syndrome
Abnormality of the kidney, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s... OMIM:117550
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coarctation of aorta, Hydronep... OMIM:618494
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Hypospadias, Patent ductus arteriosus OMIM:618330
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Arthr... OMIM:301056
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy OMIM:614022
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... ORPHA:464321
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:619189
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Intramuscular hematoma, Subdur... ORPHA:169802
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Ventric... ORPHA:2516
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Camptodactyly, Abnormal heart morphology, Aminoaciduria, Joint contr... OMIM:214110
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Hyp... ORPHA:3097
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Trisomy X
Ventricular septal defect, Atrial septal defect, Renal hypoplasia/aplasia, Multicystic kidney dys... ORPHA:3375
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Epistaxis, Cerebral hemor... ORPHA:99828
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Serkal Syndrome
Congenital diaphragmatic hernia, Hypospadias, Ventricular septal defect, Renal agenesis, Pulmonic... ORPHA:139466
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat... OMIM:620300
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Snakebite Envenomation
Abnormal bleeding, Stroke, Gingival bleeding, Hypotension, Cerebral ischemia, Muscle fiber necros... ORPHA:449285
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Factor Vii Deficiency
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... OMIM:227500
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Hyd... ORPHA:85285
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Renal tubular dysf... OMIM:614886
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Partial anomalous pulmonary venous return, ... OMIM:608978
Cat Eye Syndrome
Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Renal agenesis... OMIM:115470
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa... ORPHA:84064
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Asymme... OMIM:608758
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Patent foramen ovale, Neonatal death, Left ventricular hypertrophy, Dilated cardiom... OMIM:619167
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Noonan Syndrome 10
Patent ductus arteriosus, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis... OMIM:616564
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect OMIM:616589
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:617397
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypospadias, Hypoplasia of penis ORPHA:1381
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor ORPHA:49827
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Striae distensae, Coronary artery atherosclerosis, Aor... OMIM:617168
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613873
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
8Q12 Microduplication Syndrome
Atrial septal defect, Vesicoureteral reflux, Ventricular septal defect ORPHA:228399
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte... OMIM:606232
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Rhabdomyosarcoma, Weakness of long finger extensor muscles, Aortic a... ORPHA:35125
Erythrocytosis, Familial, 2
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins OMIM:263400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Hydronephrosis, Limb joint contracture, Patent ductus arte... OMIM:620327
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, High palate, Nemaline bodies, Joint contracture, Cereb... OMIM:620278
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Congenital Myopathy 19
Facial hypotonia, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy, Renal atrophy OMIM:618578
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph... OMIM:617056
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr... OMIM:616652
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T... ORPHA:2184
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arter... OMIM:618142
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect OMIM:615583
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis, Unilateral renal agenesis OMIM:618504
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Hydronephrosis, Tetralogy o... ORPHA:1780
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Retinal arterial tortuosity, Limb hypertonia, Hydranencephaly, Hydrocephalus, Card... OMIM:620371
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Persisten... OMIM:615067
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe... ORPHA:7
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Hydroureter, Hydronephrosis, Congenital posterior uret... OMIM:100100
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Intrauterine growth retardation, Left ventricular hypertrophy, Card... OMIM:617713
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:276556
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic... OMIM:616277
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, M... OMIM:613870
Factor X Deficiency
Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh... OMIM:227600
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Hypertension, Growth delay, Cleft palate, Intracranial... OMIM:614424
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615415
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hydronephrosis, Patent ductus arteriosus after premature birth, Knee f... OMIM:620454
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Peripheral pulmon... OMIM:613001
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Patent ductus arteriosus, Camptodactyly, Pulmonic stenosis, Left vent... OMIM:619148
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:276575
Hemophilia B
Cephalohematoma, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding... ORPHA:98879
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... OMIM:610655
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,... ORPHA:465
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology, Hypospadias ORPHA:1923
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:276580
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th f... OMIM:620141
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Hydronephrosis, Ventricular septal defect OMIM:618950
Meckel Syndrome 14
Polycystic kidney dysplasia, Single ventricle OMIM:619879
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Hydroureter OMIM:616559
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Patent ductus arteriosus, Ventricu... OMIM:613680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, ... OMIM:249270
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Alg12-Cdg
Muscular ventricular septal defect, Hypospadias, Patent foramen ovale, Camptodactyly, Patent duct... ORPHA:79324
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Intestinal per... ORPHA:90068
Trisomy 1Q
Congenital diaphragmatic hernia, Congenital megaureter, Camptodactyly of finger, Hydronephrosis, ... ORPHA:261344
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v... ORPHA:3099
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... ORPHA:79
Beta-Thalassemia
Skin ulcer, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Pallor ORPHA:848
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopathy, Dextrocardia, Aortic aneurysm, High palate, Short stature, Cerebral hemorrhage, Skeleta... ORPHA:536545
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, High palate, Pulmonic stenosis, Abnormal mitral valve morphology,... ORPHA:1131
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr... OMIM:612098
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Growth delay, Abnormal heart morphology, Cleft palate, Intrauterine growth retardation... ORPHA:79284
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl... OMIM:267010
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Camptodactyly, Renal cortical microcysts, A... OMIM:614866
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Flexion contracture, Cardiomegaly, Vent... OMIM:616897
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Renal insufficiency, Chronic kidney disease ORPHA:1667
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ... OMIM:619343
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Intracranial hemorrhage ORPHA:398189
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Kury-Isidor Syndrome
Hydronephrosis, Ventricular septal defect OMIM:619762
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Pulmonary artery stenosis, C... ORPHA:261494
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Hydronephrosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Patent ductus arteriosus OMIM:619797
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Horseshoe kidney, Hypospadias, Patent ductus arteriosus OMIM:218350
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle at... OMIM:618291
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hypospadias, Skeletal muscle atrophy, Multic... ORPHA:2461
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect, Hypoplasia of penis ORPHA:2772
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Abnormal heart valve morphology, Tendon thickening, Tendon rupture, Mitral ... ORPHA:230851
Branchiogenic-Deafness Syndrome
Short stature, Submucous cleft hard palate, Branchial fistula, Branchial cyst OMIM:609166
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Atrial septal defect, Micropenis OMIM:616546
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Cardiomyopathy, Stroke-like episode, Hydronephrosis OMIM:222300
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Abnormal atrioventricular valve morphology, Left ventricula... ORPHA:563
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Persisten... ORPHA:2044
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Renal agenesis, Renal hypoplasia, Coarctation of aorta, Atrial s... OMIM:264480
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Atrial septal defect, Ventricular septal defect, Micropenis OMIM:263520
Congenital Aortic Valve Stenosis
Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph... ORPHA:3093
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias OMIM:612528
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Arthrogryposis multiplex congenita, Glycosuria, Nephrocalcinosis, Protein... OMIM:613404
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Dry skin, Left ventricular hypertrophy, Intrauterine growth retardation, Atrial septal defect, Er... OMIM:620510
Down Syndrome
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, E... OMIM:190685
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena cava morphology, Peripher... ORPHA:163956
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Hypoplasia of penis ORPHA:2256
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Dry skin, Pericardial effusion, Pericarditis, Lower limb hypertonia, Hepatosplenome... OMIM:619487
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Noonan Syndrome 4
Ureteral duplication, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Atrial sept... OMIM:610733
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Coarctation of aorta, Ventricular septal defect OMIM:620210
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, Camptodactyly, Pulmonic stenosis, Hydronephrosi... OMIM:201000
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic aortic arch, Pat... OMIM:157800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Extracranial Carotid Artery Aneurysm
Abnormality of the neck, Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ... ORPHA:494424
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Patent foramen ovale, Vesicoureteral reflux, Elbow f... ORPHA:96149
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor, Hepatomegaly, Splenomegaly ORPHA:163596
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy OMIM:278300
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Ren... ORPHA:805
Fetal Gaucher Disease
Stillbirth, High palate, Neonatal death, Flexion contracture, Intracranial hemorrhage, Arthrogryp... ORPHA:85212
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Penile Agenesis
Atrial septal defect, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent p... ORPHA:49
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Patent ductus arteriosus, Ventricular septa... OMIM:102500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r... OMIM:265380
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Shoulder flexion contracture, Polycystic kidney dysplasia, Pa... OMIM:210710
Zaki Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Renal agenesis, Hydronephrosis, Patent duc... OMIM:619648
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Ventricular sept... OMIM:617516
Vacterl/Vater Association
Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardi... ORPHA:887
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Severe postnatal growth retardation, Camptodactyly, Pulmonary artery s... ORPHA:435938
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Multicystic kidney dysplasia, Camptodactyly OMIM:619980
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis ORPHA:3306
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Vascular dilatation, Vesicoureteral reflux, Ventricular septal defect, Sma... OMIM:607323
Mosaic Trisomy 9
Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of finger, Hydr... ORPHA:99776
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Cardiomegaly, Aortic root aneurysm, Patent foramen ovale, Elbow ... OMIM:245600
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao... OMIM:301111
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Hypospadias, Vesicoureteral ref... ORPHA:2059
American Trypanosomiasis
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Pallor ORPHA:3386
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic... ORPHA:107
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Aplasia of the left hemidiaphragm, Ureteral agenesis, Hydron... ORPHA:2437
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Renal hypoplasia/aplasia, Ventricular septal defect ORPHA:2345
Bardet-Biedl Syndrome 17
Situs inversus totalis, Polyuria, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro... OMIM:615994
22Q11.2 Deletion Syndrome
Atrial septal defect, Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Abnormal ... ORPHA:567
Parkes Weber Syndrome
Abnormal bleeding, Spinal arteriovenous malformation, Arteriovenous malformation, Venous malforma... ORPHA:90307
Optic Atrophy 1
Pallor OMIM:165500
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arterios... OMIM:612562
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype... OMIM:615474
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Orofaciodigital Syndrome I
Vascular dilatation, Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Protei... OMIM:311200
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Hypospadias, Renal agenesis, Abnormal pericardium morphology, Te... ORPHA:1335
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... ORPHA:2847
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insu... OMIM:614922
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect OMIM:602501
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Hypospadias, Multicystic kidney... ORPHA:1596
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hydranencephaly
Postnatal growth retardation, Stiff neck, Abnormal internal carotid artery morphology, Dilatation... ORPHA:2177
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Abnormal cardiac septum morphology ORPHA:3079
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Patent foramen ovale, Arthrogryposis multiplex congenita, Nephrocalcinosi... OMIM:208085
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Burn-Mckeown Syndrome
Hypomimic face, Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular se... OMIM:608572
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Pleural lymphangiectas... OMIM:235510
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Hypoplasia of penis ORPHA:2328
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect ORPHA:75389
X-Linked Sideroblastic Anemia
Pallor, Splenomegaly ORPHA:75563
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Rhizomelia, Aortic regurgitation, Aortic... ORPHA:666
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Left ventricular hypertrophy, Lower limb muscl... ORPHA:746
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy OMIM:618321
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypertrophy OMIM:619698
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... OMIM:601005
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... OMIM:171300
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Tangier Disease
Facial diplegia, Dry skin, Coronary artery stenosis, Accelerated atherosclerosis, Hepatosplenomeg... ORPHA:31150
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Pallor, Intrauterine growth retardation, Atrial septal defect, Ventricular ... OMIM:609053
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Hydronephrosis, Tetralogy of Fallot, Abnormal heart morphology, Micropenis, Small h... ORPHA:96092
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Camptodactyly, Left ventricular hypertrophy OMIM:611209
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Orotic Aciduria
Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect OMIM:258900
Giant Cell Arteritis
Hematuria, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death, Intrauterine growth reta... OMIM:619055
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Abnormal cardiac septum morphology ORPHA:2315
Mucolipidosis Type Ii
Abnormal aortic valve morphology, Patent foramen ovale, Cardiomyopathy, Diastasis recti, Left ven... ORPHA:576
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Transposition of the great arteries, Muscular ventricular septal defect, Pelvic kidney, Elbow fle... OMIM:619503
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Truncus arteriosus, Ren... OMIM:134780
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Horseshoe kidney, Renal cyst ORPHA:166035
Zellweger Syndrome
Ventricular septal defect, Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Genitopatellar Syndrome
Hip contracture, Hydronephrosis, Knee flexion contracture, Atrial septal defect, Arthrogryposis m... ORPHA:85201
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Ureteral duplication, ... OMIM:600001
Woods Syndrome
Ventricular septal defect OMIM:615236
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardio... ORPHA:308552
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular sep... OMIM:600460
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitra... OMIM:142900
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of penis ORPHA:452
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Left ventricular hypertrophy OMIM:619355
Aneurysm-Osteoarthritis Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Camptodactyly of finger, Umbilical hernia, Abnormal ... ORPHA:284984
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Pulmonary ... ORPHA:624
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta, Hydronephrosis, Rhabdomyolysis, Cardiomegaly, Dilated cardiomyopathy, Ventr... OMIM:614921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hydronephrosis, Pulmonary lymphangiectasia, Ventricular septal defec... OMIM:235255
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Atri... OMIM:220500
Breath-Holding Spells
Pallor OMIM:607578
Tarp Syndrome
Subdural hemorrhage, Hydronephrosis, Tetralogy of Fallot, Atrial septal defect, Horseshoe kidney OMIM:311900
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Patent duc... OMIM:618280
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Left ventricular hypertrophy ORPHA:320
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Mirage Syndrome
Petechiae, Hydrocephalus, Short stature, Intracranial hemorrhage, Patent ductus arteriosus, Intra... OMIM:617053
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Ventricular septal defect, Patent duct... ORPHA:392
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Ca... DECIPHER:81
Vater/Vacterl Association
Transposition of the great arteries, Ectopic kidney, Hypospadias, Patent ductus arteriosus, Vesic... OMIM:192350
Brachydactyly, Type B1
Ventricular septal defect, Micropenis, Camptodactyly, Joint contracture of the hand OMIM:113000
Meckel Syndrome, Type 1
Vascular dilatation, Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Camp... OMIM:249000
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Hydronephrosis, Ventricular septal defect, Hypospadias OMIM:616449
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Patent ductus arteriosus OMIM:104350
Vascular Hyalinosis
Subarachnoid hemorrhage, Protein-losing enteropathy, Vascular dilatation, Hematochezia OMIM:277175
ERI1-related disease
Ventricular septal defect, Hydronephrosis, Abnormal heart morphology, Vesicoureteral reflux OMIM:608739
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Hypospadias... OMIM:313850
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Patent ductus arteriosus OMIM:300048
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Hydroureter, Valvular pulmonary stenosis, Pelvic kidney, Patent foramen ov... OMIM:300707
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Menkes Disease
Intrauterine growth retardation, Intracranial hemorrhage, Short stature OMIM:309400
Fontaine Progeroid Syndrome
Premature skin wrinkling, Patent ductus arteriosus, Aortic aneurysm, Hypoplasia of the abdominal ... OMIM:612289
Fabry Disease
Ventricular septal hypertrophy, Left ventricular hypertrophy OMIM:301500
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Axial Osteomalacia
Myopathy, Renal cyst OMIM:109130
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Coarctation of aorta, Tetralogy of Fallot, Patent duc... OMIM:617159
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Hydronephrosis OMIM:619179
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid ... ORPHA:500159
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst, Cutaneous leiomyosarcoma OMIM:135150
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe... ORPHA:251071
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Bicu... ORPHA:96169
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Renal hypoplasia/aplasia, Ventricular septal defect, Abnormality of the ureter ORPHA:1770
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter,... ORPHA:1834
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmo... ORPHA:363958
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Pancreatic lymphangiectasis, Hydronephrosis, Pulmonary lymphangiectasi... ORPHA:1655
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Intraventricular hemorrhage, Aganglionic megacolon OMIM:613603
Branchiogenic Deafness Syndrome
Short stature, Cleft palate, Branchial fistula, Branchial cyst ORPHA:50815
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis, Aortic valve... OMIM:618164
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Pulmonic stenosi... OMIM:610443
Joubert Syndrome 20
Renal cyst OMIM:614970
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Hydronephrosis, Micropenis OMIM:617798
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hydroureter, Hypoplasia of the musculature, Elbow flexion contracture,... OMIM:305620
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Microph... OMIM:618454
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Contractu... OMIM:618223
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia... OMIM:614080
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hematuria, Patent ductus arteriosus OMIM:617021
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak... OMIM:619542
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava w... OMIM:618460
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous ventricular s... OMIM:620662
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, High palate, ... ORPHA:453499
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture OMIM:147800
Loeys-Dietz Syndrome 3
Patent ductus arteriosus, Thoracic aortic aneurysm, Aortic aneurysm, Ventricular hypertrophy, Aor... OMIM:613795
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Facial palsy, Coarctation of aorta, Apical muscular ventricular ... OMIM:301022
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Limb hypertonia, High palate, Increased nuchal translucency, Short stature, Fetal intraventricula... OMIM:618480
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Right ventricular hypertrophy, Atrial septal defect,... OMIM:614261
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Hypospadias, Renal agenesis, Pulmonary artery stenosis, Hypoplas... OMIM:611812
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Emanuel Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Torticollis, Recurrent urinary tract ... OMIM:609029
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia, Patent ductus arteriosus OMIM:619909
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Proteinuria ORPHA:2143
Teebi-Shaltout Syndrome
Camptodactyly, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defec... OMIM:272950
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Micropenis OMIM:618021
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, EMG: myopathic abnormali... ORPHA:254892
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal def... OMIM:300712
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Nephrocal... OMIM:615398
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac sept... ORPHA:2075
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux OMIM:618265
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Chronic kidney disease OMIM:615630
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, EMG: myopathic a... ORPHA:365
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Aor... ORPHA:464311
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Camptodactyly, Pulmonic stenosis, Hydronephrosis, Patent ... OMIM:616737
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Hypotension, Internal hemorrhage ORPHA:244242
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Propionic Acidemia
Short stature, Cerebellar hemorrhage, Cardiomyopathy, Limb hypertonia OMIM:606054
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Diastasis recti, Camptodactyly of fing... ORPHA:2092
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Hepatomegaly, Splenomegaly OMIM:615631
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double... OMIM:249420
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephroblastoma, Atrial septal defect, V... OMIM:610832
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Ragged-red muscle fibers, Generalized limb muscle atrophy, Scapular winging, Pallor OMIM:600462
Leishmaniasis
Pallor, Skin ulcer, Splenomegaly, Hepatomegaly ORPHA:507
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Ec... ORPHA:324636
Primary Myelofibrosis
Purpura, Hepatomegaly, Petechiae, Ecchymosis, Splenomegaly, Hepatosplenomegaly, Pallor ORPHA:824
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Renal cortical cysts, Elbow flexion contracture, Pulmonary arter... ORPHA:1692
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Nephrocalcinosis, Renal insufficiency ORPHA:445038
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Ascending tubular aorta aneurysm, Ureteropelvic junction... ORPHA:444072
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... ORPHA:99106
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnor... ORPHA:99901
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Patent ductus arteriosus OMIM:617751
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:290
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Nephrolithiasis, Functional abnormality of the bladder, Hydronep... ORPHA:2953
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Congenital contracture, Centrally nucleated skeletal muscle fibers, Flexion c... OMIM:615368
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:250410
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Aortic regurgitation, Aortic aneurysm, Truncus arteriosus, Ankyloglossia, Sh... ORPHA:261330
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Renal dysplasia, Vari... OMIM:617107
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Truncus arteriosus, Camptodactyly of finger, Coarctation of aor... ORPHA:2008
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Hypospadias, Aortic root aneurysm, Patent foramen ovale, Vesicou... ORPHA:2745
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Arteriovenous malformation, Intestinal polyposis, Aortic aneurysm, Angina pectoris... ORPHA:109
Chime Syndrome
Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great arteries, Hydronep... ORPHA:3474
Stormorken Syndrome
Abnormal bleeding, Short stature, Stroke-like episode, Epistaxis, Subarachnoid hemorrhage, Bruisi... OMIM:185070
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Elbow flexion contracture, Aplasia ... OMIM:200980
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Cranioectodermal Dysplasia 2
Hepatomegaly, Patent foramen ovale, Cutis laxa, Left ventricular hypertrophy, Splenomegaly, Paten... OMIM:613610
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:615668
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Hypospadias, Renal agenesis, Hydronephrosis, Ventricula... OMIM:301040
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Hypophosphatasia, Infantile
Stillbirth, Disproportionate short-limb short stature, Intracranial hemorrhage OMIM:241500
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Atrial septal defect, Hydronephrosis, Ventricular septal defect, Vesicoureteral reflux OMIM:620663
Hereditary Spherocytosis
Hepatomegaly, Skin ulcer, Restrictive cardiomyopathy, Splenomegaly, Pallor ORPHA:822
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Bruising susceptibility, Intracranial hemorrhage ORPHA:3226
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:301039
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Preductal coarctation of th... OMIM:146510
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart m... ORPHA:261197
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Abnorma... ORPHA:250989
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney... ORPHA:1225
Filippi Syndrome
Ventricular septal defect OMIM:272440
Gabriele-De Vries Syndrome
Facial hypotonia, Patent foramen ovale, Ureteropelvic junction obstruction, Hydronephrosis, Dista... OMIM:617557
Aspergillosis
Stroke, Abnormal esophagus morphology, Intracranial hemorrhage ORPHA:1163
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Renal cortical microcysts, Hydronephrosis, Albuminuria, Patent ductus arteriosus, Ve... OMIM:214100
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Hypospadias, Male urethral meatus stenosis, Hydronephrosis, Contracture of ... ORPHA:464738
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Neurogenic bladder, Secundum atrial septal defect, Hydr... OMIM:608779
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Arthrogryposis multiplex congenita OMIM:236500
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic hernia, Renal duplication... OMIM:613309
Dravet Syndrome
Pallor ORPHA:33069
Branchiootic Syndrome
Branchial fistula, Facial palsy, Cleft palate ORPHA:52429
Retinitis Pigmentosa 51
Pallor OMIM:613464
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Cystic Echinococcosis
Abnormality of the diaphragm, Renal cyst, Abnormal heart morphology, Ovarian cyst, Hepatic cysts,... ORPHA:400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Hypoplasia of penis ORPHA:77298
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hydronephrosis, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Coach Syndrome 1
Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kid... OMIM:216360
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Re... ORPHA:158684
Meningioma
Hydrocephalus, Neoplasm of the tongue, Facial palsy, Upper limb muscle weakness, Cerebral hemorrh... ORPHA:2495
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... ORPHA:565
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Micropenis, Patent ductus arteriosus ORPHA:2519
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Aortic root aneurysm, Elbow flexion contracture, Wrist flexion contract... OMIM:121050
Hand-Foot-Genital Syndrome
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropelvic junction ob... ORPHA:2438
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Multiple joint contractures, Pelvic kidney, Renal cyst, A... ORPHA:464306
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Vesicoureteral reflux, Macroglossia, Aortic valve stenosis, Coarctation of a... ORPHA:96147
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma... ORPHA:466791
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Patent ductus arteriosus... OMIM:614576
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion contracture, Ve... OMIM:617201
Kaposiform Lymphangiomatosis
Abnormality of the neck, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... ORPHA:464329
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology, Ventricular septal defect, Flexion contracture ORPHA:79243
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Erythema, Left ventricular hypertrophy ORPHA:294023
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta,... ORPHA:2876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Vesicoureteral reflux, Ventricular septal defect OMIM:615879
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Pulmonic stenosis, Hydronephrosis, Secundum atrial septal def... OMIM:612541
3Mc Syndrome 1
Diastasis recti, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Ventricular sept... OMIM:257920
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Volvulus, Cerebral hemorrhage, Patent ductus arteriosus, Ventricular sept... OMIM:616682
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Trisomy 8P
Abnormal left ventricle morphology, Multiple joint contractures, Dysplastic aortic valve, Nephroc... ORPHA:264450
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, High palate, Tricuspid regurgitation, Low p... ORPHA:261337
Dominant Beta-Thalassemia
Skin ulcer, Hypoplasia of the musculature, Pallor, Hepatosplenomegaly, Splenomegaly, Dilated card... ORPHA:231226
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Atrial septal defect, Hydronephrosis, Patent ductus arteriosus OMIM:300968
Vici Syndrome
Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dilated cardiomyopathy, Myopathy OMIM:242840
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
X-Linked Intellectual Disability Due To Gria3 Mutations
Abnormality of muscle size, Hydronephrosis, Micropenis, Facial hypotonia ORPHA:364028
Microphthalmia, Syndromic 2
Hypospadias, Hypoplastic aortic arch, Dextrocardia, Contracture of the proximal interphalangeal j... OMIM:300166
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent urinary tract infections, Pulmonary artery hypoplasia,... OMIM:616777
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Hypoplasia of penis, Abnormal aortic morphology, Camptodacty... ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Vesicoureteral reflu... OMIM:619103
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy... ORPHA:1329
Arachnoid Cyst
Encephalocele, Hydrocephalus, Facial palsy, Holoprosencephaly, Subarachnoid hemorrhage, Lower lim... ORPHA:2356
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri... ORPHA:2255
Holoprosencephaly
Congenital diaphragmatic hernia, Intestinal atresia, Encephalocele, Hydrocephalus, Branchial anom... ORPHA:2162
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Vesicoureteral reflux, Ventricular septal defect ORPHA:3078
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Dysur... ORPHA:49041
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Acquired Idiopathic Sideroblastic Anemia
Pallor, Hepatomegaly, Splenomegaly ORPHA:75564
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly OMIM:613839
Tarp Syndrome
Hydronephrosis, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Ho... ORPHA:2886
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Vascular dilatation, Morgagni diaphragmatic hernia, Patent foramen ... OMIM:613177
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Anomalous branches of i... ORPHA:363705
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot ORPHA:1908
Fanconi Anemia, Complementation Group B
Renal agenesis, Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect, Microp... OMIM:300514
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Kabuki Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys... ORPHA:2322
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Kapur-Toriello Syndrome
Camptodactyly of finger, Micropenis, Patent ductus arteriosus, Atrial septal defect, Ventricular ... OMIM:244300
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Codas Syndrome
Ventricular septal defect, Hydroureter ORPHA:1458
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Multicystic kidney dysplasia, Pulmonic stenosis, Coar... ORPHA:97360
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Emanuel Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Multiple joint contractures, Truncus ... ORPHA:96170
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... ORPHA:906
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia OMIM:617260
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Pelvic kidney, Patent foramen ovale, Vesicoureteral reflux, Hydronephrosis, Micr... OMIM:618653
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Dilatation of renal calic... OMIM:614294
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Vesicoureteral reflux, Abnormal heart morphology, Hypospadias ORPHA:494344
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Lymphangiectasis, Renal cyst OMIM:602579
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Short stature, Telangiectasia ORPHA:420741
Recombinant 8 Syndrome
Abnormality of the kidney, Pulmonary artery stenosis, Camptodactyly of finger, Tetralogy of Fallo... ORPHA:96167
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Leopard Syndrome 1
Unilateral renal agenesis, Hypospadias, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:151100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent left superior vena cava, Pericardial effusion, Ventricular septal defect, Hypertrophic... OMIM:618775
Oligomeganephronia
Congenital diaphragmatic hernia, Hypertension, Pulmonary venous occlusion, Secundum atrial septal... ORPHA:2260
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Camptodactyly, Abnormal heart morphology, Arthrogryposis-like hand anomaly,... ORPHA:369891
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus... OMIM:232300
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Hypospadias, Aortic aneurysm, Enuresi... ORPHA:96121
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Beta-Thalassemia Major
Skin ulcer, Hepatomegaly, Hypoplasia of the musculature, Pallor, Hepatosplenomegaly, Splenomegaly... ORPHA:231214
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Pulmonic stenosis, Embryonal rhabdomyosarc... OMIM:257300
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Wrist flexion contracture, Knee flexion contracture, Pro... ORPHA:3103
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Limb hypertonia ORPHA:488613
Erdheim-Chester Disease
Abnormal aortic valve morphology, Dysuria, Abnormal pericardium morphology, Hydronephrosis, Renal... ORPHA:35687
Meckel Syndrome, Type 10
Camptodactyly, Micropenis, Hypospadias, Renal cyst OMIM:614175
Charge Syndrome
Right aortic arch, Dysplastic tricuspid valve, Pulmonary artery atresia, Facial palsy, Renal agen... OMIM:214800
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Muscular ventricular septal defect, Scapular winging, Atrial septa... OMIM:278250
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Hardikar Syndrome
Partial anomalous pulmonary venous return, Hydroureter, Patent ductus arteriosus, Recurrent urina... OMIM:301068
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Patent ductus arteriosus, Atrial septal defect, Ventricul... OMIM:618870
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect ORPHA:1488
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Otopalatodigital Syndrome Type 2
Hypospadias, Abnormal heart valve morphology, Camptodactyly of finger, Ureteral obstruction, Hydr... ORPHA:90652
Fabry Disease
Abnormal endocardium morphology, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, A... ORPHA:324
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Meier-Gorlin Syndrome 7
Hypospadias, Vesicoureteral reflux, Urethral stricture, Atrial septal defect, Ventricular septal ... OMIM:617063
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Glossitis, Stroke, Pulmonary arterial hypertension, Growth delay, Abnormal heart m... ORPHA:79282
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Abnormal cardiac septum morphology, Hydronephrosis, Flexion contractur... OMIM:308050
Trisomy 18
Congenital diaphragmatic hernia, Abnormality of the upper urinary tract, Camptodactyly of finger,... ORPHA:3380
Mosaic Trisomy 16
Hypospadias, Single coronary artery origin, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:1708
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Hypospadias, Knee flexion contracture, Long penis, Polycystic kidney d... OMIM:268300
Hutchinson-Gilford Progeria Syndrome
Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral valve morphology, I... ORPHA:740
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Glandular hypospadias, Facial palsy, Hydronephrosis, Skel... ORPHA:1358
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Camptodactyly of finger, Hydro... ORPHA:261318
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of pe... ORPHA:373
Kawasaki Disease
Myocarditis, Vasculitis, Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Doubl... ORPHA:2331
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612582
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Kagami-Ogata Syndrome
Diastasis recti, Pulmonic stenosis, Flexion contracture, Patent ductus arteriosus, Atrial septal ... OMIM:608149
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Hypertension, Esopha... ORPHA:394
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Pallor ORPHA:20
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ve... ORPHA:363618
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Nephrocalcinosis, ... ORPHA:369837
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Type 1 muscle fiber atrophy,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Type 1 muscle fiber atrophy,... ORPHA:352665
Lethal Congenital Contracture Syndrome 10
Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overriding aorta, Vent... OMIM:617022
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Renal cyst, Nephrotic syndrome, Pericarditis, Pericardial e... OMIM:212065
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... OMIM:620519
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Elbow flexion contracture, Shoulder muscle hypoplasia, Wrist flexi... ORPHA:1826
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Ventricular septal defect, Camptodactyly, B... ORPHA:500095
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, ... ORPHA:1340
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Fryns Syndrome
Ureteral duplication, Hypospadias, Aplasia of the left hemidiaphragm, Renal cyst, Camptodactyly, ... OMIM:229850
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Pulmonic stenosis, Skeletal muscle atr... ORPHA:435638
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Alagille Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Atrial septal defect, Ve... ORPHA:52
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Total anomalous pulmonary venous return, Camptodactyly, H... ORPHA:487796
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos... OMIM:253800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:612938
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis, Camptodactyly, Joint contracture of the hand OMIM:612513
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal inferior ve... ORPHA:980
Chops Syndrome
Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Patent ductus art... OMIM:616368
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Hydrocephalus, Ret... OMIM:175780
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Ritscher-Schinzel Syndrome 2
Camptodactyly, Pulmonary artery hypoplasia, Camptodactyly of finger, Patent ductus arteriosus, At... OMIM:300963
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Hepatomegaly ORPHA:263455
Alagille Syndrome 1
Atrial septal defect, Duplicated collecting system, Renal tubular acidosis, Stroke, Vesicouretera... OMIM:118450
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot, Horseshoe kidney OMIM:174300
Alveolar Echinococcosis
Abnormality of the diaphragm, Abnormal bladder morphology, Abnormal skeletal muscle morphology, R... ORPHA:284
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Hypospadias, Aortic root aneurysm, Camptodactyly, Coarctation of... OMIM:617602
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Ventricular septal defect, Micropenis, Skeletal muscle hypertrophy OMIM:617164
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Apert Syndrome
Overriding aorta, Hydronephrosis, Ventricular septal defect OMIM:101200
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:614961
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Congenital muscular torticollis, Truncus arteriosus, Renal agenesis, Cr... ORPHA:2538
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Hepatomegaly, Splenomegaly OMIM:266200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Diamond-Blackfan Anemia 1
Spina bifida occulta, Tricuspid stenosis, Pallor, Coarctation of aorta, Intrauterine growth retar... OMIM:105650
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Double a... ORPHA:95430
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure... ORPHA:289
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis, Renal angi... OMIM:191100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Pulmonic... ORPHA:353281
Myelofibrosis
Splenomegaly, Purpura, Hepatomegaly, Pallor OMIM:254450
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia OMIM:616920
Cardiofaciocutaneous Syndrome 1
Pulmonic stenosis, Atrial septal defect, Hydronephrosis, Hypertrophic cardiomyopathy OMIM:115150
Kleefstra Syndrome 1
Hypospadias, Abnormal renal morphology, Conotruncal defect, Micropenis, Macroglossia OMIM:610253
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Flexion contracture of... ORPHA:254528
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta, Hydronephrosis, Ventricular septal defect, Multicyst... ORPHA:2308
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, Flexion contracture OMIM:617452
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly OMIM:619123
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Distal arthrogryposis, Diap... OMIM:618975
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Aminoaciduria OMIM:617913
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Camptodactyly of finger, Hydronephrosis ORPHA:568
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Proteinuria, Diaphragmatic ev... OMIM:222448
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flex... OMIM:602782
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Atrioventricular canal defect, Hypospa... ORPHA:818
Okamoto Syndrome
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val... ORPHA:2729
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Hypospadias, Patent ductus arteriosus, Atrial septal de... OMIM:158170
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy, Facial hypotonia ORPHA:2131
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Histiocytoid Cardiomyopathy
Cardiomegaly, Pallor, Ventricular septal defect, Hepatomegaly ORPHA:137675
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus ORPHA:25
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Growth delay, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Subarachnoid hemor... OMIM:243700
C Syndrome
Renal cortical cysts, Ventricular septal defect, Patent ductus arteriosus OMIM:211750
2P15P16.1 Microdeletion Syndrome
Facial palsy, Camptodactyly of finger, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicour... OMIM:122470
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Patent foramen ovale, Mitral valve calcification, Flexion contracture, Left ventric... OMIM:619127
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Tuberous Sclerosis 2
Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:613254
X Small Rings
Aortic root aneurysm, Mitral stenosis, Fetal pyelectasis, Bicuspid aortic valve, Ventricular sept... ORPHA:96201
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Atrioventricular canal defect, Unilateral renal agenesis, Hypoplastic ... ORPHA:508488
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defec... OMIM:620024
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect, Hypospadias ORPHA:96097
Chromosome 18Q Deletion Syndrome
Hypospadias, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of the pulmona... OMIM:601808
Beta-Thalassemia Intermedia
Skin ulcer, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Pallor ORPHA:231222
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Hypospadias, Arthrogryposis multiplex congenita ORPHA:254346
Fanconi Anemia, Complementation Group D2
Anemic pallor, Abnormal heart morphology, Patent ductus arteriosus OMIM:227646
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Coarctation of aorta, Ventricular septal defect, Ectopic kidney ORPHA:268249
Irida Syndrome
Pallor ORPHA:209981
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic stenosis, Mitral valve prolapse,... ORPHA:3071
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis ORPHA:2510
Cerebrocostomandibular Syndrome
Ectopic kidney, Elbow flexion contracture, Renal cyst, Patent ductus arteriosus, Atrial septal de... OMIM:117650
Degcags Syndrome
Hepatomegaly, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonic stenosis, Pallor, Hepato... OMIM:619488
Lymphedema-Distichiasis Syndrome
Varicose veins, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Scapular winging, Patent ductus arteriosus OMIM:617061
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aorti... ORPHA:991
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hypospadias, Histiocytoid cardiomyopathy, Chordee, Overriding ao... OMIM:309801
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Abnormal heart valve morphology, Aor... ORPHA:1606
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, Limb joint contracture ORPHA:505237
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Hydronephrosis, Vesicoureteral reflux OMIM:615926
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... OMIM:270400
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... ORPHA:3260
Esophageal Atresia
Pallor, Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Micropenis OMIM:620073
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Torticollis ORPHA:276432
Congenital Tracheal Stenosis
Abnormality of the kidney, Anomalous origin of left pulmonary artery from ascending aorta, Pulmon... ORPHA:141127
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Autosomal Recessive Spastic Paraplegia Type 20
Distal amyotrophy, Dysuria, Upper limb muscle weakness, Hydronephrosis, Skeletal muscle atrophy ORPHA:101000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Patent foramen ovale, Contracture of the proximal interphalangea... ORPHA:457279
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormal renal morphology, Patent foramen ovale, Hypertrophic cardiomyo... ORPHA:363700
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage, Adenomatous colonic polyposis ORPHA:616
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly ORPHA:90033
Sepsis In Premature Infants
Purpura, Hepatomegaly, Petechiae, Splenomegaly, Pallor ORPHA:90051
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Contracture of the proximal interphalangeal joint of t... ORPHA:314585
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Flexion contracture ORPHA:35173
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature arteriosclerosis, Renal steatosis, Tendon xanthomatosis, Pr... ORPHA:391665
Digeorge Syndrome
Right aortic arch with mirror image branching, Unilateral renal agenesis, Interrupted aortic arch... OMIM:188400
Cerebrocostomandibular Syndrome
Ventricular septal defect, Multicystic kidney dysplasia ORPHA:1393
Tetrasomy 9P
Dextrocardia, Juxtaductal coarctation of the aorta, Myositis, Recurrent urinary tract infections,... ORPHA:3310
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Pallor, Abnormal heart morphology, Coarctation of aorta, Atri... ORPHA:124
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... OMIM:620066
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hypospadias ORPHA:217346
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Aortic valve atresia, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Coarctation of a... OMIM:220111
Al-Gazali Syndrome
Hydronephrosis, Wrist flexion contracture OMIM:609465
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn... ORPHA:508498
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Hydronephrosis, Tricuspid stenosis ORPHA:100078
Fanconi Anemia, Complementation Group C
Ectopic kidney, Duplicated collecting system, Renal agenesis, Flexion contracture, Ventricular se... OMIM:227645
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Elevated urinary catecholamine level, Stroke, Ren... ORPHA:892
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Aortic root aneurysm, Vesicoureteral reflux, Ventricular hypertrophy, ... OMIM:620654
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract ORPHA:2995
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Vesicoureteral reflux, Congenital posterior urethral valve, V... OMIM:300000
Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Vasculitis, Ureteral stenosis, Pericarditis, Hydronephrosis, Proteinur... ORPHA:900
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Transposition of the great arteries, Hypospadia... OMIM:312870
2Q37 Microdeletion Syndrome
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia, Congenital diaphragmati... ORPHA:1001
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Patent ductus arteriosus, Pelvic kidney, Grade III vesicourete... OMIM:619522
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage, Intrauterine growth retardation, Short stature OMIM:619714
Lateral Meningocele Syndrome
Aortic aneurysm, Neurogenic bladder, Decreased muscle mass, Patent ductus arteriosus, Bicuspid ao... OMIM:130720
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Hepatomegaly ORPHA:348
Neuromuscular Oculoauditory Syndrome
Calf muscle hypertrophy, Wrist flexion contracture, EMG: myopathic abnormalities, Muscle fiber ne... OMIM:618733
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Hypospadias, Pulmonary artery stenosis, Atrial septal defect, V... OMIM:300998
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Agenesis of the diaphragm, Ventricular septal defect, Complete atrio... OMIM:236680
Pfeiffer Syndrome Type 3
Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:93260
Waldenström Macroglobulinemia
Splenomegaly, Purpura, Hepatomegaly, Pallor ORPHA:33226
Floating-Harbor Syndrome
Mesocardia, Hypospadias, Glandular hypospadias, Persistent left superior vena cava, Coarctation o... OMIM:136140
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Atrial septal defect, Macroglossia, ... OMIM:269150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Exercise-induced rhabdomyolysis... ORPHA:26793
Treacher-Collins Syndrome
Encephalocele, Rectovaginal fistula, Glossoptosis, High palate, Tracheoesophageal fistula, Cleft ... ORPHA:861
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Hydronephrosis ORPHA:2839
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Hypertension, Intracranial hemorrhage ORPHA:90795
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus OMIM:620113
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Facial palsy, Pulmonary arterial hypertension, Ankyloglossia, Short stature... OMIM:620186
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Vesicoureteral reflux, Anomalous origin of left subclavian artery, Nephroli... ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, Flexion contra... OMIM:309520
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pulmonary artery stenosis, Splenomegaly, Pallor, Abnormal pulmonary valve morphology ORPHA:667
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly ORPHA:134
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Hydronephrosi... ORPHA:847
Arboleda-Tham Syndrome
Lower limb amyotrophy, Recurrent urinary tract infections, Pulmonic stenosis, Lower limb hyperton... OMIM:616268
Mosaic Trisomy 8
Camptodactyly of finger, Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux ORPHA:96061
Retinitis Pigmentosa 75
Pallor OMIM:617023
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Hepatomegaly, Hepatosplenomegaly ORPHA:331206
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Patent ductus arteriosus, V... OMIM:616975
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Vesicoureteral reflux, Pulmonary artery atresia, Camptodactyly, Patent duct... OMIM:616894
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Dark urine, Stage 5 chronic kidney disease, Dilatation of the re... OMIM:619534
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Renal hypoplasia, Patent ductus arteriosus, Ventricular septal defect, Cyst... OMIM:269860
Tay-Sachs Disease
Pallor OMIM:272800
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Hypospadias, Patent foramen ovale, Aortic isthmus hypop... OMIM:180849
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Megacystis, Ventr... ORPHA:209905
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus OMIM:300472
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Abnormal aortic morphology, Coarctation of aorta, Nephrobla... ORPHA:1052
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353277
Doors Syndrome
Hydronephrosis, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Double outle... ORPHA:79500
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Camptodactyly of finger, Ab... ORPHA:354
Charge Syndrome
Abnormal aortic valve morphology, Interrupted aortic arch, Vesicoureteral reflux, Facial palsy, A... ORPHA:138
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Hypoplasia of penis, Camptodactyly of finger, Renal hypop... ORPHA:3138
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Diastasis recti, Nephrotic syndrome, Hydronephrosis, Distal arthrogrypo... OMIM:601776
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly OMIM:246400
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system ORPHA:541423
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hip contracture, Kn... OMIM:178110
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Beckwith-Wiedemann Syndrome
Enlarged kidney, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Atrial septal defect, Ureteral duplication, Atrioventricular canal defect, Ves... OMIM:274000
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Abnormal pulmonary vein morphology, ... ORPHA:709
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Leigh Syndrome
3-Methylglutaconic aciduria, Multiple joint contractures, Generalized aminoaciduria, Renal tubula... ORPHA:506
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... ORPHA:247245
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal de... OMIM:610759
Stromme Syndrome
Hydronephrosis, Myopathy, Bilateral renal hypoplasia OMIM:243605
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Nephrolithiasis, Camptodactyly, Hydronephrosis, Renal duplication, Nephrocalcinosis,... OMIM:268310
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Melnick-Needles Syndrome
Tricuspid valve prolapse, Hydronephrosis, Mitral valve prolapse, Ureteral stenosis OMIM:309350
Kabuki Syndrome 1
Coarctation of aorta, Ureteropelvic junction obstruction, Hydronephrosis, Crossed fused renal ect... OMIM:147920
Senior-Loken Syndrome 8
Pallor OMIM:616307
Mosaic Trisomy 20
Abnormality of the kidney, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricu... ORPHA:1724
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Camptodactyly, Hydronephrosi... ORPHA:798
Au-Kline Syndrome
Aortic root aneurysm, Vesicoureteral reflux, Hydronephrosis, Chronic kidney disease, Dilatation o... OMIM:616580
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Scapular winging, Renal cyst OMIM:615560
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Trichohepatoenteric Syndrome 1
Hypospadias, Galactosuria, Pulmonic stenosis, Renal cortical microcysts, Tetralogy of Fallot, Ven... OMIM:222470
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Elliptocytosis 1
Pallor, Splenomegaly OMIM:611804
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Coffin-Siris Syndrome
Hypospadias, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial sep... ORPHA:1465
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:614114
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, High, narrow palate, High palate, Short stature, Growth delay, I... OMIM:613406
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydr... OMIM:135900
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Facial palsy, Camptodactyly, Patent ductus arteriosus, Atrial septal ... OMIM:300373
Peutz-Jeghers Syndrome
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter ORPHA:2869
Childhood Absence Epilepsy
Pallor ORPHA:64280
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Adams-Oliver Syndrome 1
Pulmonic stenosis, Pulmonary artery stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspi... OMIM:100300
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular ... ORPHA:1519
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Hepatomegaly, Splenomegaly ORPHA:98849
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Cardiomyopathy, Nephrotic syndrom... ORPHA:110
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Hepatosplenomegaly ORPHA:300298
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Aortic root aneurysm, Patent foramen ovale, Scapular winging, Congeni... OMIM:615582
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Anomal... OMIM:616462
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor, Hepatomegaly, Splenomegaly OMIM:194380
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Bohring-Opitz Syndrome
Vesicoureteral reflux, Camptodactyly, Flexion contracture, Atrial septal defect, Ventricular sept... OMIM:605039
Orofaciodigital Syndrome Type 1
Vascular dilatation, Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinur... ORPHA:2750
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Chylopericardium, Multiple renal cysts, Pulmonary lymphangiomyomatosis... ORPHA:538
Gabriele-De Vries Syndrome
Facial hypotonia, Patent foramen ovale, Ebstein anomaly of the tricuspid valve, Ureteropelvic jun... ORPHA:506358
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage ORPHA:91350
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hip contracture, Hydronephrosis, Knee flexion contracture, Atrial s... OMIM:606170
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Down Syndrome
Atrioventricular canal defect, Renal hypoplasia/aplasia, Secundum atrial septal defect, Tetralogy... ORPHA:870
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Mody
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst ORPHA:552
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Liver Disease, Severe Congenital
Left atrial enlargement, Hypospadias, Recurrent urinary tract infections, Patent foramen ovale, A... OMIM:619991
Chromosome 14Q11-Q22 Deletion Syndrome
Renal tubular acidosis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect... OMIM:613457
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect OMIM:612530
Adenohypophysitis
Pallor ORPHA:95512
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Micropenis, Hypospadias, Patent ductus arteriosus OMIM:106260
Cousin Syndrome
Hydronephrosis, Wrist flexion contracture, Camptodactyly, Joint contracture of the hand OMIM:260660
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Aplasia of the left hemidiaphragm, Pulmonary artery ... OMIM:620025
Alzahrani-Kuwahara Syndrome
Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava... OMIM:619268
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Williams Syndrome
Abnormal carotid artery morphology, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Mul... ORPHA:904
Panhypophysitis
Pallor ORPHA:95513
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,... OMIM:617506
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Hypospadias, Interrupted inferior ven... OMIM:618846
Nelson Syndrome
Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness ORPHA:199244
Rabson-Mendenhall Syndrome
Long penis, Cardiomyopathy, Nephrocalcinosis, Atrial septal defect, Ventricular septal defect, Ma... ORPHA:769
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hydronephrosis, Micropenis, Contracture of the distal i... ORPHA:83617
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Raine Syndrome
Hydronephrosis, Hydroureter, Arthrogryposis multiplex congenita OMIM:259775
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:604292
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Splenomegaly OMIM:300908
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Patent ductus arteriosus OMIM:277600
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Acute Transverse Myelitis
Distal lower limb muscle weakness, Orthostatic hypotension, Hypertension, Upper limb muscle weakn... ORPHA:139417
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Sotos Syndrome
Abnormality of the kidney, Ankle flexion contracture, Ureteral duplication, Hypospadias, Aortic a... ORPHA:821
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Hepatomegaly OMIM:277400
Pituitary Apoplexy
Pallor ORPHA:95613
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena... OMIM:258040
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:261236
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Ventricular septal defect, Limb hypertonia OMIM:609460
Dpagt1-Cdg
Prolonged QT interval, Camptodactyly, Stroke-like episode, Flexion contracture, Intracranial hemo... ORPHA:86309
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pallor ORPHA:544482
De Barsy Syndrome
Hypoplastic aortic arch, Prominent veins on trunk, Decreased muscle mass, Patent ductus arteriosu... ORPHA:2962
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:614609
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb hypertonia, Neurogenic bladder, Ureteropelvic junction obstruction, Hydronephrosis, Lower li... OMIM:616973
Aregenerative Anemia
Pallor ORPHA:101096
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Prolactinoma
Pallor ORPHA:2965
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:79345
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Carotid artery tortuosity, Bladder diverticulum OMIM:304150
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Renpenning Syndrome 1
Situs inversus totalis, Hypospadias, Phimosis, Camptodactyly, Renal hypoplasia, Tetralogy of Fall... OMIM:309500
Knobloch Syndrome 1
Duplicated collecting system, Renal duplication, Hydronephrosis, Bifid ureter, Patent ductus arte... OMIM:267750
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Displacement of the urethral meatus, Arterial stenosis, Patent ductus... ORPHA:1556
Hajdu-Cheney Syndrome
Hypospadias, Aortic valve stenosis, Mitral stenosis, Multiple renal cysts, Patent ductus arterios... ORPHA:955
Trisomy 10P
Abnormality of the kidney, Camptodactyly, Decreased muscle mass, Abnormal heart morphology, Multi... ORPHA:171929
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Joubert Syndrome 1
Macroglossia, Nephropathy, Renal cyst OMIM:213300
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Tetral... OMIM:107480
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defec... OMIM:607721
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Diastasis recti, Pulmonic stenosis, Skeletal muscle atrophy, Ventricular sept... ORPHA:488632
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis, Renal tubular acidosis OMIM:619575
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Eec Syndrome
Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Urethral atresia ORPHA:1896
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Campomelic Dysplasia
Hydronephrosis, Abnormal heart morphology, Hypospadias, Contracture of the distal interphalangeal... OMIM:114290
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Pearson Syndrome
Cardiomyopathy, Renal cyst, Glycosuria, Abnormal heart morphology, Proteinuria, Renal insufficien... ORPHA:699
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Pearson Marrow-Pancreas Syndrome
Pallor, Hepatomegaly, Erythema OMIM:557000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Flexion contracture OMIM:619306
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Patent ductus arteriosus ORPHA:79329
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:129900
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:261552
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect OMIM:243150
Microphthalmia, Syndromic 3
Ventricular septal defect, Micropenis, Hypospadias, Patent ductus arteriosus OMIM:206900
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Hypotension, Intracra... ORPHA:90062
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney OMIM:619426
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Unilateral renal agenesis, Tetralogy of Fallot, Patent ductus ar... OMIM:154400
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Cardiom... ORPHA:116
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:143
Mowat-Wilson Syndrome
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:2152
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Rhabdomyosarcoma, Hydronephrosis OMIM:251260
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic ki... ORPHA:261537
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Diastasis recti, Pulmonic stenosis, Renal hypoplasia, Hydronep... OMIM:261540
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosis, Aortic valve stenosis, ... OMIM:608328
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Ventricular septal defect OMIM:620330
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus ORPHA:96191
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Flexion contracture OMIM:614653
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Limb hypertonia, Dysplastic pulmonary valve, Dilatation of renal calices, Recurrent ... ORPHA:3455
Eisenmenger Syndrome
Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Abnormal he... ORPHA:97214
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Cardiomyopathy, Hydronephrosis, Patent ductus arteriosus, Renal d... ORPHA:480880
Jacobsen Syndrome
Flexion contracture, Atrial septal defect, Ventricular septal defect, Hypospadias OMIM:147791
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Aortic root aneurysm, Patent foramen ovale, Vesicoureteral reflux, Abnormal heart mo... ORPHA:444077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Right aortic arch, Coarctation of aort... OMIM:164210
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Elbow flexion contracture, Facial palsy, Low pos... OMIM:113620
D-Bifunctional Protein Deficiency
Decreased muscle mass, Renal cyst OMIM:261515
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Hypospadias, Urethrovaginal fi... OMIM:243800
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Limb Body Wall Complex
Congenital diaphragmatic hernia, Abnormality of the kidney, Ectopia cordis, Diastasis recti, Abno... ORPHA:2369
Multiple Endocrine Neoplasia Type 2
Pallor, Proximal amyotrophy ORPHA:653
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular acidosis, Distal ... ORPHA:2785
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Hydronephrosis, Absent pulmonary artery OMIM:610682
Neuroblastoma
Anemic pallor ORPHA:635
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Flexion contracture, Patent ductus arteriosus, Atrial septal... OMIM:617140
Early Infantile Epileptic Encephalopathy
Ureterocele, Ventricular septal defect, Renal dysplasia, Micropenis ORPHA:1934
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infections, Ventricular septal de... ORPHA:268261
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Williams-Beuren Syndrome
Abnormal renal morphology, Pulmonic stenosis, Nephrocalcinosis, Mitral valve prolapse, Urethral s... OMIM:194050
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Aortic valve stenosis, Pericardial effusion, Coarctat... OMIM:139210
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia, Pan... ORPHA:564
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Restrictive Dermopathy
Transposition of the great arteries, Ureteral duplication, Hypospadias, Dextrocardia, Ascending t... ORPHA:1662
Proboscis Lateralis
Unilateral renal agenesis, Ureteral agenesis, Patent ductus arteriosus, Duplication of renal pelv... ORPHA:141099
Otopalatodigital Syndrome, Type Ii
Hypospadias, Dilatation of the sinus of Valsalva, Hydronephrosis, Atrial septal defect, Elbow con... OMIM:304120
Chromosome 16P13.3 Duplication Syndrome
Facial hypotonia, Camptodactyly, Tetralogy of Fallot, Atrial septal defect, Ventricular septal de... OMIM:613458
Catel-Manzke Syndrome
Dextrocardia, Camptodactyly, Coarctation of aorta, Overriding aorta, Ventricular septal defect OMIM:616145
Feingold Syndrome 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Ventric... OMIM:164280
Monosomy 22Q13.3
Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux ORPHA:48652
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Camptodactyly, Renal agenesis, Patent ... OMIM:256520
Cornelia De Lange Syndrome 6
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery atresia OMIM:620568
Costello Syndrome
Rhabdomyosarcoma, Lymphangiectasis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Achilles tend... OMIM:218040
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Micropenis OMIM:613884
Congenital Disorder Of Glycosylation, Type Iiw
Microscopic hematuria, Tetralogy of Fallot, Membranoproliferative glomerulonephritis, Ventricular... OMIM:619525
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal d... ORPHA:3047
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Hypospadias, Lower-limb joint contracture, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Patent ductus arteriosus, Vesicoureteral reflux ORPHA:2363
Orofaciodigital Syndrome Xiv
Epispadias, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Micropenis... OMIM:615948
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Ectopic kidney, Hypospadias, Aortic root aneurysm, Noncompaction cardiomyop... OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Yunis-Varon Syndrome
Hypospadias, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Tetralogy of Fallo... ORPHA:3472
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, ... ORPHA:199
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Ureteral duplication, Diastasis recti, Hydronephrosis, Bifid ure... OMIM:305600
Noonan Syndrome 1
Hypospadias, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Patent ductus ... OMIM:163950
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Camptodactyly, Contracture of the proximal interphalangeal joint... OMIM:301044
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Nep... ORPHA:534
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Knee flexion contractu... OMIM:614976
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication, Macroglossia OMIM:180700
Keutel Syndrome
Pulmonic stenosis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Pulmonary art... OMIM:245150
Mowat-Wilson Syndrome
Abnormality of the kidney, Hypospadias, Pulmonic stenosis, Pulmonary artery stenosis, Generalized... OMIM:235730
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Renal cyst OMIM:272460
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Camptodactyly of ... ORPHA:2273
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Orofaciodigital Syndrome Type 14
Epispadias, Ventricular septal defect, Patent ductus arteriosus ORPHA:434179
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Tricuspid stenosis, Pulmonic stenosis, Aortic valve stenosis, Camptodact... OMIM:143095
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Ventricular septal defect OMIM:608670
Pallister-Hall Syndrome
Atrioventricular canal defect, Hypospadias, Ectopic kidney, Unilateral renal agenesis, Bilateral ... ORPHA:672
Proteus Syndrome
Enlarged kidney, Arteriovenous malformation, Venous malformation, Long penis, Enlarged polycystic... ORPHA:744
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Hypospadias, Camptodactyly of 2nd-5th fingers, Hypertrophic card... OMIM:601803
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Right aortic arch, Ventricular septal defect ORPHA:513456
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Atrial septal defect, Mu... OMIM:308205
C Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the abdominal wa... ORPHA:1308
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Ulnar-Mammary Syndrome
Ventricular septal defect, Micropenis, Elbow flexion contracture OMIM:181450
Pmm2-Cdg
Angina pectoris, High palate, Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, In... ORPHA:79318
Goodpasture Syndrome
Pallor OMIM:233450

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 Mapk7

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 Mapk7.

No publications found that use IMPC mice or data for Mapk7.

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MGI Allele Allele Type Produced
Mapk7tm384463(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mapk7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mapk7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mapk7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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