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,  ERK5,  BMK1,  b2b2346Clo,  Erk5-T

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Renal cyst, Right aortic a... OMIM:231060
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... OMIM:615382
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... OMIM:618845
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... ORPHA:1909
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Micropenis, Tetralogy of Fallot, Microphallus OMIM:615542
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Polycystic kidney dysplasia, Renal... OMIM:173900
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent ur... OMIM:613095
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... OMIM:619371
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Renal cyst OMIM:228940
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts, Nephropathy ORPHA:3033
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Pulmonic s... OMIM:220210
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Abnormal heart morphology, Perimembranous ventricular septal defec... ORPHA:363444
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Facial palsy, Cerebral ischemia, Stroke, Transient i... ORPHA:36382
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Joint contracture of th... OMIM:179613
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Dilatation of the cerebral artery OMIM:600666
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, ... OMIM:618316
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis OMIM:601355
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Skeletal muscle atrophy, Arthr... OMIM:607598
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Inflammation of the large intestine, Gingival bleed... ORPHA:331
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Renal hyp... ORPHA:1166
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect, Camptodactyly OMIM:614815
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... ORPHA:284388
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
46,Xx Sex Reversal 5
Ventricular septal defect, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Hypoplast... OMIM:618901
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Abnormal heart morphology, Patent ductus arteriosus, Polycystic... ORPHA:314588
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Transposition of the great arter... OMIM:314390
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Patent ductus ar... OMIM:615355
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Intrauterine growth retardation, Hepatomegaly OMIM:619048
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Hip contracture, Subdural hemorr... ORPHA:169805
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Tricuspid stenosis,... ORPHA:391641
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Short stature, Is... ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Short stature, Abnormal left ve... OMIM:300845
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
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... OMIM:306955
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... ORPHA:3092
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... OMIM:615248
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus, Enlarged kidney, Poly... OMIM:208540
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... ORPHA:136
Trisomy 17P
Urethral valve, Hydronephrosis, Skeletal muscle atrophy, Hypoplasia of penis, Urethral stenosis, ... ORPHA:261290
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Hepatic cysts, Renal cyst OMIM:263630
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation OMIM:614654
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Urethral stenosis, Displaceme... ORPHA:1727
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Cardiac Valvular Defect, Developmental
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricu... OMIM:212093
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect OMIM:618804
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Dry... OMIM:205400
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Abnormal heart morphology, P... OMIM:100100
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia, Flexion contracture, Congenital diaphragm... OMIM:263210
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal m... OMIM:601186
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy OMIM:613873
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... ORPHA:98878
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Generalized amyotrophy, Diaphragmatic eventration, Muscular ventricular s... ORPHA:66634
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal localization of kidney, Abnormal cardiac septum morphology ORPHA:83473
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetra... OMIM:612946
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect OMIM:619227
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Atrioventricular canal defect, ... ORPHA:210122
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Abnormal facial vein morpholog... ORPHA:97339
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Intrauterine growth retardation, Flexion contracture OMIM:616733
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Abnormality of the kidney OMIM:616901
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Ascending tubular aorta aneurysm, Uret... OMIM:270100
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Congenital posterior urethral valve, Patent... ORPHA:2970
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Patent duct... ORPHA:1686
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Ureteral duplication, Increased muscle lipid content, Hydronephrosis, Car... OMIM:608836
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl... OMIM:263200
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Mckusick-Kaufman Syndrome
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Urogenital sinus anomaly, Re... ORPHA:2473
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger OMIM:619562
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myopathy, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, C... ORPHA:157
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyo... OMIM:608751
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, E... ORPHA:401935
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... ORPHA:860
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Skeletal muscle atrophy, Lacticaciduria, Abnormal heart morphology, Increa... ORPHA:26791
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Situs inversus totalis, ... OMIM:615415
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmo... OMIM:239711
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Abnormal heart morphology, Renal dysplasia, Polycystic kidney dysplasia, Unilater... ORPHA:2237
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Renal ... ORPHA:2516
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation, Renal insufficiency OMIM:219730
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Joint contracture of the hand, Polycystic kidney dysplasia, Camptodact... OMIM:214110
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:616730
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Abnormal cardiac sep... OMIM:618494
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:94080
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Renal tubular dysfunction, Patent ductus art... OMIM:614886
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst, Abnormal cardiac septum morphology OMIM:615583
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Congenital dia... ORPHA:139466
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Pancreatic cysts, Aortic root aneur... ORPHA:730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomegal... ORPHA:228308
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Limb joint contracture, Subdural hemor... ORPHA:169802
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Esophageal varix, Conjunctival telangiectasia, Telangiectasia of the skin, E... ORPHA:774
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... ORPHA:53719
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Meacham Syndrome
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Hypoplasia of penis, Situs inver... ORPHA:3097
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus arteriosus, Atria... ORPHA:488618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Hypote... ORPHA:99828
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:173470
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Asymmetric septal hypertrophy OMIM:613838
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Patent for... OMIM:619189
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Intrauterine growth retardation, Camptodactyly OMIM:611209
Tetraamelia Syndrome 2
Ventricular septal defect, Micropenis, Hypoplastic pulmonary veins OMIM:618021
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Duplicated... OMIM:301056
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Petechiae, Patent ductus arteriosus OMIM:617397
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Vascular dilatation, Nephropathy, Renal ins... OMIM:611773
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Peripheral pulmonary artery s... ORPHA:84064
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Recurrent ... OMIM:613680
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Hydronephrosis, Hip contracture, Knee flexion contracture, Vesicourete... ORPHA:85285
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Palmoplantar cutis... OMIM:616564
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Tetralogy of Fallot ORPHA:1381
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... ORPHA:449285
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hip contracture, Abnor... ORPHA:464321
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Polycystic kidney dysplasia, Vesicoureteral ... OMIM:606232
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Polycythemia Vera
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome OMIM:263300
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... OMIM:608978
Retinitis Pigmentosa 60
Pallor OMIM:613983
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Abnormal cardiac septum morphology OMIM:616449
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Vesicoureteral reflux ORPHA:228399
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Renal agenesis, Double outlet right ventricle, Pulmonary artery hypoplasi... ORPHA:2326
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Retinitis Pigmentosa 81
Pallor OMIM:617871
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Ventricular septal defect, Atrial septal defect ORPHA:49827
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... ORPHA:85451
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Left ventricu... OMIM:619167
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding, Intramuscul... OMIM:227500
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... OMIM:613404
Thakker-Donnai Syndrome
Ventricular septal defect, Hydronephrosis, Congenital diaphragmatic hernia, Transposition of the ... ORPHA:1780
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... OMIM:608758
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia, Abnormality of the diaphragm OMIM:183802
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
3C Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Hypoplasia of penis, Abnormal mitral valv... ORPHA:7
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Optic Atrophy 9
Pallor OMIM:616289
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Vascular dilatation, Nephropathy, Chronic kidney ... OMIM:617056
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Xanthinuria, Type I
Myopathy, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Weakness of long finger extensor muscles, Rhabdomyosarcoma, Aortic a... ORPHA:35125
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Contractur... OMIM:613870
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, High, narrow palate, High palate, Mitral valve prolapse, Angina pectoris, Ga... OMIM:177850
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal heart morphology, Situs inversus totalis, Hepatic cysts, Nephronophthisis, ... ORPHA:1505
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Skeletal muscle atrophy, Renal atrophy, Facial hypotonia, Congenital contracture OMIM:618578
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Pelvic kidney, S... OMIM:613001
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Trisomy 13
Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Patent ductus arteriosus, D... ORPHA:3378
Peripheral Cone Dystrophy
Pallor OMIM:609021
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Facial palsy, Polycystic kidney dysplasia, Ab... OMIM:113650
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Unilateral renal agenesis OMIM:608406
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... OMIM:612561
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Unilateral... OMIM:618142
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Pallor ORPHA:276556
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Atrial septal defect, Renal cyst OMIM:611134
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Hydroureter, Pulmonic stenosis OMIM:616559
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Stroke, Hypotension OMIM:263400
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Bicuspid aortic valve, Dextrocardia, Myopathy, Antenatal intracerebral hemor... ORPHA:536545
Alg12-Cdg
Hypospadias, Biventricular hypertrophy, Patent ductus arteriosus, Micropenis, Camptodactyly, Pate... ORPHA:79324
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Colitis, Intest... ORPHA:90068
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature OMIM:309400
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Pallor ORPHA:276575
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:276422
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... OMIM:208085
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Pallor ORPHA:276580
Rheumatic Fever
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis, Abnormal mitral ... ORPHA:3099
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Hypoplasia of penis ORPHA:2772
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Nephrolithiasis, Left ventricular hypertrop... OMIM:615474
Orofaciodigital Syndrome I
Pancreatic cysts, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, Polycystic kidney d... OMIM:311200
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Multiple glomerular cyst... OMIM:267010
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Short stature, Intraventricular hemorrhage OMIM:616507
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Hypoplasia of penis ORPHA:2256
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Pallor, Skin ulcer ORPHA:848
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Atrioventricular canal defect, Atrial septal defect, Tetralogy of Fall... OMIM:600123
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Left ... ORPHA:563
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:618348
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Myopathy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, ... OMIM:614922
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Intrauterine growth retardation, Growth delay, Abnormal heart morphology, Glossitis... ORPHA:79284
Optic Atrophy 1
Pallor OMIM:165500
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Renal agenesis, ... OMIM:264480
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Persistent left superior vena cava... ORPHA:2044
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis OMIM:618504
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Hydronephro... ORPHA:449400
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly, Small t... OMIM:619148
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Marden-Walker Syndrome
Hypospadias, Renal dysplasia, Camptodactyly of finger, Abnormal anatomic location of the heart, D... ORPHA:2461
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Aminoaci... OMIM:249270
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:618950
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
X-Linked Mandibulofacial Dysostosis
High palate, Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Bra... ORPHA:1131
Wolcott-Rallison Syndrome
Chronic kidney disease, Double outlet right ventricle, Atrial septal defect, Renal insufficiency ORPHA:1667
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Intrauterine growth retardation, Left ventricul... OMIM:619487
Hereditary Xanthinuria
Myopathy, Decreased urinary urate, Hydronephrosis, Increased urinary hypoxanthine, Xanthine nephr... ORPHA:3467
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hydronephrosis ORPHA:531151
Mungan Syndrome
Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Ventricular septal defect, Atrial septal defect, Polycystic kidney dysplasia OMIM:263520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Cardiomegaly... OMIM:616897
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:276621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Renal dysplasia, Renal cyst, Muscular dystrophy, Micropenis OMIM:615287
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus ORPHA:457193
Kleefstra Syndrome
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Macroglossia, Coar... ORPHA:261494
Distal Monosomy 12Q
Hydronephrosis, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Micropenis, P... ORPHA:96149
Congenital Aortic Valve Stenosis
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... ORPHA:3093
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right... ORPHA:163956
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, Hydronephrosis, Mitral valve prolapse, Skeletal muscle ... OMIM:305620
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Pul... OMIM:610733
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature OMIM:609166
Filippi Syndrome
Ventricular septal defect OMIM:272440
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Congenital diaphragmatic hernia, Coarctation of aorta, Renal cy... OMIM:618454
Renal Agenesis
Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis ORPHA:140989
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Congenital diaphragmatic hernia, Multicystic kidney ... ORPHA:887
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Ur... ORPHA:49
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Trisomy 1Q
Ventricular septal defect, Hydronephrosis, Congenital diaphragmatic hernia, Congenital megaureter... ORPHA:261344
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Atrial septal defect, Hypomimic face OMIM:608572
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Hypospadias, Ventricular septal defect, Micropenis OMIM:617164
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pallor, Pericarditis, Splenomegaly ORPHA:163596
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney dise... ORPHA:805
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic hernia, Renal dy... ORPHA:1335
Fetal Gaucher Disease
High palate, Intracranial hemorrhage, Neonatal death, Arthrogryposis multiplex congenita, Stillbi... ORPHA:85212
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Nephroblastoma OMIM:602501
Wolfram Syndrome 1
Hydronephrosis, Hydroureter, Cardiomyopathy, Neurogenic bladder OMIM:222300
Mosaic Trisomy 9
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Renal dysplasia, Endoc... ORPHA:99776
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Carpenter Syndrome 1
Ventricular septal defect, Hydronephrosis, Joint contracture of the hand, Patent ductus arteriosu... OMIM:201000
Czeizel-Losonci Syndrome
Dextrocardia, Hydronephrosis, Myelomeningocele, Abnormality of the urinary system, Congenital meg... ORPHA:2437
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Card... ORPHA:255249
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Hydronephrosis, Peripheral pulmonary artery stenosis, Duplicated colle... OMIM:280000
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Duane-Radial Ray Syndrome
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Renal malrotation, Renal hypoplasia,... OMIM:607323
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis ORPHA:3306
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... OMIM:613426
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Vesicoureteral re... OMIM:614261
Femoral-Facial Syndrome
Ventricular septal defect, Renal agenesis, Truncus arteriosus, Pulmonic stenosis, Micropenis, Pol... OMIM:134780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... OMIM:265380
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Ventricular septal defect, Retinal arteriolar tortuosity, Tricuspid atr... ORPHA:567
Retinitis Pigmentosa 70
Pallor OMIM:615922
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Renal hypoplasia, Ventricular septal defect, Atrial septal defect ORPHA:75389
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Mitral valve prolapse, Aortic root aneurysm, Left ventricular hypertrophy, Atrial... ORPHA:230851
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Vesic... OMIM:612562
Kapur-Toriello Syndrome
Ventricular septal defect, Hypoplasia of penis, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Pol... OMIM:615994
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux OMIM:618265
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Situs inversus totalis, Nephronophthisis, Stage 5 chronic k... OMIM:602088
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Retinitis Pigmentosa 27
Pallor OMIM:613750
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... ORPHA:2847
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
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... OMIM:243910
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Hydronephrosis, Congeni... ORPHA:2059
American Trypanosomiasis
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Pallor ORPHA:3386
Mitochondrial Trifunctional