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Gene: Klf3 MGI:1342773

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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:
Kruppel-like transcription factor 3 (basic)
Synonyms:
9930027G08Rik,  Bklf,  Tef-2,  BKLF

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Klf3 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 Klf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Nondisjunction
Decreased fertility OMIM:158250
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... OMIM:615779
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu... OMIM:619433
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... ORPHA:2414
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Spermatogenic Failure 17
Male infertility OMIM:617214
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic ... OMIM:182410
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Lef... ORPHA:75249
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pu... OMIM:230800
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity OMIM:615981
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... OMIM:616589
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for gestational... ORPHA:363705
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... ORPHA:228410
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, C... ORPHA:49827
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... OMIM:608099
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Nephr... OMIM:269920
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Congestive heart failure, Death in childhood, Hypertrophic cardiomyopathy, Fail... OMIM:615440
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... OMIM:618845
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ... OMIM:619167
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... ORPHA:90308
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry red spot of the macula, Failure to t... ORPHA:796
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... ORPHA:1120
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Enamel hypoplasia ORPHA:2871
Endocardial Fibroelastosis
Congestive heart failure, Hypoplasia of penis, Restrictive cardiomyopathy, Endocardial fibroelast... ORPHA:2022
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu... OMIM:220210
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,... OMIM:619048
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... OMIM:610198
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr... ORPHA:54057
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Atelectasis, Leukocytosis, Mediastinal lymphadenopathy, Br... OMIM:620233
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... ORPHA:97287
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100082
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Meckel Syndrome, Type 7
Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Si... OMIM:267010
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100075
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... OMIM:540000
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... ORPHA:225
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Failure to thrive, Bicuspid aortic valve OMIM:617744
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Elevated circulating aspar... OMIM:620300
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Emanuel Syndrome
Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosu... OMIM:609029
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Inguinal hernia, Femoral hernia, Hypoplasia of penis, Re... ORPHA:96147
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
3C Syndrome
Death in infancy, Inguinal hernia, Hypoplasia of penis, Ventricular septal defect, Abnormal mitra... ORPHA:7
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
White Forelock With Malformations
Atrial septal defect OMIM:277740
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Lipodystrophy, Flexion contracture, Atypical scarring of skin, Atrophic ... ORPHA:75496
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, A... OMIM:620135
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Syndromic Diarrhea
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... ORPHA:84064
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Death in childhood, Neutropeni... OMIM:617303
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Intra... ORPHA:363618
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Lipoat... ORPHA:141184
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Hernia, Atrial septal defect, Patent foramen ovale, Tricuspid re... ORPHA:505248
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria,... OMIM:604273
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Telan... ORPHA:101028
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... ORPHA:2306
Stiff Skin Syndrome
Lipodystrophy, Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Campto... OMIM:184900
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hepatic steatosis, Li... ORPHA:2348
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in ... OMIM:601808
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... OMIM:265380
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Inguinal hernia, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Camptodactyly... ORPHA:459061
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... OMIM:618278
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycard... ORPHA:391673
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmon... OMIM:619751
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Micropenis, Aortic valve stenosis, Failure to th... OMIM:243310
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... ORPHA:508542
Orotic Aciduria
Failure to thrive, Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unre... OMIM:258900
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,... ORPHA:188
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abno... ORPHA:329224
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hepatic steatosis, Calf muscle pseudo... ORPHA:79083
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... ORPHA:371428
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Congestive heart failure, Nephrocalcinosis, Atrial septa... ORPHA:500533
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased adipose tissue, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib... ORPHA:1349
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly o... ORPHA:1194
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... ORPHA:549
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c... ORPHA:261290
Colchicine Poisoning
Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Oliguria, ... ORPHA:31824
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Congen... OMIM:208050
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Microvesicular hepat... OMIM:212140
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... ORPHA:96170
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... ORPHA:477817
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Hypertrophic cardiomyop... ORPHA:70472
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Patent duct... OMIM:239850
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation, ... OMIM:615879
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... ORPHA:91130
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Renal hypoplasia, Obesity OMIM:600151
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Abnormal... ORPHA:500159
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cholestasis, Car... ORPHA:746
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Obesity, Increased... ORPHA:90041
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Rhabdomyolysis, Ven... OMIM:212138
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Immunodeficiency 47
Normocytic anemia, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve stenosis, Atrial se... OMIM:617660
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Osteomesopyknosis
Infertility OMIM:166450
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... OMIM:619698
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Cardiac Valvular Dysplasia 1
Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid regurgitation, Pu... OMIM:212093
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Hernia, Atrial septal defe... ORPHA:185
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... ORPHA:449285
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg... OMIM:614866
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... ORPHA:97214
Mungan Syndrome
Tricuspid regurgitation, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic ste... OMIM:611376
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Macrocytic anemia, Ventricular septal defect, Patent ... OMIM:612561
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, T... ORPHA:292
Mulibrey Nanism
Hepatomegaly, Nephroblastoma, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Perica... OMIM:253250
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Death in infancy, Abnormal heart valve morphology, Congestive hear... OMIM:230500
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Cachexi... ORPHA:3452
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Scrub Typhus
Renal insufficiency, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension ORPHA:83317
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail... ORPHA:108
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome... ORPHA:1192
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Left ventricular hypertrophy, Abn... ORPHA:230851
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... ORPHA:35858
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... OMIM:193400
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... ORPHA:261494
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Microvesicular hepatic steatos... OMIM:611126
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... OMIM:619424
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Hypovolemia, Weight loss... ORPHA:99885
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Obesity, Hypertension, Hepatic steatosis, Premat... OMIM:615703
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Microvesicular hepatic st... ORPHA:275761
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis OMIM:616298
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Umbilica... OMIM:617751
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Weig... ORPHA:100078
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contractur... ORPHA:157973
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Hypospadias OMIM:300997
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Precocious atherosclerosis, Increased intraabdominal fat, Hepatic st... ORPHA:280365
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Pseudo-Torch Syndrome 3
Death in infancy, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hy... OMIM:618886
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... ORPHA:100093
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, U... OMIM:616028
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Khan-Khan-Katsanis Syndrome
Lymphopenia, Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Corneal scarring, R... OMIM:618460
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Failure to thrive, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopeni... OMIM:606003
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia, Abnorma... OMIM:266500
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Weight loss, Hernia, Atrial septal defect, Hypertrophic c... ORPHA:1842
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia OMIM:620306
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Butyrylcholinesterase Deficiency
Congestive heart failure, Abnormality of the liver, Myocardial infarction ORPHA:132
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... OMIM:614185
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Unilateral renal agenesis, Anemia of inadequate production, Bone marrow hy... OMIM:614900
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Hematuria, Leukop... ORPHA:91547
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta... ORPHA:183
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochr... OMIM:614857
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Grayish enamel, Mitral regurgitation, Intimal thickening in the co... OMIM:253010
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Splenomegaly, Pancreatic ... ORPHA:464329
Analbuminemia
Patent ductus arteriosus, Lipodystrophy, Hypotension OMIM:616000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Diaphragmatic eventration, Spinal muscular atrophy, Secundum atrial septal defect, Congestive hea... OMIM:616866
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular tachycardia, Oliguria,... ORPHA:159
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Horseshoe kidney OMIM:619318
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Leukocytosis, Myocardial eosinophilic infiltration, Anemia, T... OMIM:131400
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Renal insufficiency, Myocardial infarction, Renal sal... ORPHA:95409
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Lipodystrophy, Congestive heart failure, Adipose tissu... ORPHA:528
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Small for g... OMIM:610443
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contract... OMIM:253200
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... ORPHA:98849
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... ORPHA:3386
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale OMIM:618870
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor... ORPHA:85447
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting re... ORPHA:47159
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Small for gestational age, Valvula... OMIM:300707
Cednik Syndrome
Congestive heart failure, Stroke, Nephrotic syndrome, Proteinuria ORPHA:66631
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia OMIM:209300
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal... ORPHA:79328
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Hepatic fibrosis, Pulmonary hypoplas... OMIM:619879
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy... ORPHA:20
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Hypotension ORPHA:369873
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Thrombocytopenia, Leukocytosis, S... ORPHA:90051
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Leukocytosis, Dilated cardiomyop... OMIM:615895
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Hypertens... OMIM:610205
Congenital Myopathy 15
Tricuspid regurgitation, Camptodactyly OMIM:620161
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Glomerulo... ORPHA:36234
Catel-Manzke Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... OMIM:231050
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Renal agenesis, Anomalous origin of left coronary artery from the... ORPHA:2326
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia ORPHA:295
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Ske... OMIM:256550
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Renal insufficiency, Pancreatitis... ORPHA:99826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Small for gestational age, C... ORPHA:1596
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Ragged-red muscle fibers OMIM:616794
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated h... OMIM:276700
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy, Hypospadias, Elbow flexion contracture, Knee... OMIM:618156
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext... OMIM:617021
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Bicuspid aortic valve, Macroglossia, Umbilical hernia, Aortic valve st... OMIM:614501
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Flexion contracture of finger, Ventricular septal defect, Small for gestati... ORPHA:464311
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Congestive heart failure, Myopathy, ... ORPHA:14
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral... OMIM:613563
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Fai... ORPHA:79312
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Familial Hypoaldosteronism
Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolemia, Proximal r... ORPHA:427
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Tricuspid valv... ORPHA:2396
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Micropenis OMIM:618929
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Dilation of Virchow-Robin spaces, Flexion contracture, Bicuspid aortic valve OMIM:619720
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Death in infancy, Long-... OMIM:608836
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... ORPHA:90068
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... ORPHA:206569
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Pulmonary artery atresia, Neonatal death, Atrial septal defect, ... OMIM:601186
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... ORPHA:324
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventr... OMIM:616652
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal loc... ORPHA:83473
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Loeys-Dietz Syndrome 4
Inguinal hernia, Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, ... OMIM:614816
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Facial palsy, Coarctation of aorta ORPHA:2780
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... ORPHA:1830
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocytosis, Weight lo... ORPHA:67
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Luo-Schoch-Yamamoto Syndrome
Umbilical hernia, Failure to thrive, Tricuspid regurgitation OMIM:619460
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Failure to thrive in infancy, Cardiomegaly, Death in childhood, P... OMIM:619064
Gms Syndrome
Tricuspid regurgitation ORPHA:2090
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac con... ORPHA:353281
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Failure to thrive, Pulmonary arterial hypertension OMIM:616045
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Organic aciduria OMIM:617184
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... ORPHA:858
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... ORPHA:96201
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Small for gestation... ORPHA:464306
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid conte... ORPHA:565612
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hunter-Macdonald Syndrome
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Hypospadias, Patent ductus arterios... OMIM:611962
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus... OMIM:615355
Gm1 Gangliosidosis
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Sp... ORPHA:354
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Microscopic hematuria, Myocarditis, Leukocytosis, Fulminant hepatitis... ORPHA:319213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Heparan sulfate excretion in urin... OMIM:309900
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Congestive heart failure, H... OMIM:617253
Anauxetic Dysplasia 1
Macroglossia, Hip contracture, Aortic valve stenosis, Elbow flexion contracture OMIM:607095
Neonatal Marfan Syndrome
Tricuspid regurgitation, Small for gestational age, Lipoatrophy, Abnormal cardiac ventricle morph... ORPHA:284979
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic... OMIM:610759
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Subv... ORPHA:3191
Jacobsen Syndrome
Death in infancy, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Annul... ORPHA:2308
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... ORPHA:99931
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Unilate... ORPHA:96121
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Camptodactyly, Aortic valve steno... OMIM:272950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract infection, Mediasti... ORPHA:79128
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Absence of subcutaneous fat, ... ORPHA:740
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia... ORPHA:290
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Familial Hyperprolactinemia
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Death in infancy, Skeletal muscle atrophy, Secundum atrial sept... OMIM:608779
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... OMIM:235400
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Bicuspid aortic valve, Lack of facial subcutaneous fat, Hypospadias, C... OMIM:176690
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Inguinal hernia, 3-Methylglutaric aciduria, Subvalvular aortic stenosis OMIM:250951
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature arteriosclerosis, Abnor... ORPHA:79474
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Infertility OMIM:240950
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Small for gestational age, Hep... OMIM:208085
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... OMIM:139210
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Rhabd... OMIM:609015
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapular winging, Congestive heart fai... ORPHA:26791
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypertension, Hypotension, Decreased urinary potassium OMIM:611489
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... ORPHA:223
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Skeletal muscle atrophy... OMIM:615512
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Mitral stenosis, Hypospadias, Splenomeg... ORPHA:955
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hy... ORPHA:231214
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Pulmonary cyst, Large for gestational age, Umbilical hernia, Nephroblastoma, Enl... OMIM:618272
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... ORPHA:137667
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Inguinal hernia, Camptodact... OMIM:607015
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve OMIM:616367
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno... ORPHA:96169
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... ORPHA:391487
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... ORPHA:398124
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... ORPHA:99827
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... OMIM:245600
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... ORPHA:244242
Cutaneous Mastocytoma
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypoxemia, Abnormal blood gas level, Hypotension, Pancreatitis ORPHA:70578
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ... OMIM:619259
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... ORPHA:51208
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Cyanosis, Ventricular septal defect, Partial anomalous pul... OMIM:617478
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypos... ORPHA:508498
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615279
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Renal salt wasting, Weight loss, Hypernatriuria, Hypotension,... ORPHA:361
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... ORPHA:453499
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Congestive heart failure, Cutaneous angiolipomas, Spinal arteriovenous... ORPHA:53721
Lateral Meningocele Syndrome
Inguinal hernia, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Decreased ... OMIM:130720
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... ORPHA:100024
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmon... OMIM:263520
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Renal hypoplasia, Atrial... OMIM:612946
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Congestive heart fa... ORPHA:579
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... ORPHA:94080
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent foramen ovale OMIM:619967
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Hypoxemia, Leukopenia, Hypotension ORPHA:36238
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal ao... ORPHA:1166
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Inguinal hernia, Ketonuria, Bicuspid aortic valve, Mitral atresia, Small for ge... OMIM:220111
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Cyanosis, Double outlet right ventricl... ORPHA:3426
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis... ORPHA:3304
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... ORPHA:713
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Inguinal hernia, Widened atrophic scar, Decreased muscle mass, Congestive h... ORPHA:1900
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... OMIM:105200
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Death in infan... OMIM:619355
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Diastasis recti, Cardiomegaly, Congestive he... OMIM:252500
H Syndrome
Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physi... ORPHA:168569
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... ORPHA:536545
Congenital Myopathy 22A, Classic
Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Bradycardia, Congenital fi... OMIM:620351
Arterial Tortuosity Syndrome
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni... ORPHA:3342
Marfan Syndrome
Aortic regurgitation, Reduced subcutaneous adipose tissue, Decreased muscle mass, Tricuspid regur... OMIM:154700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Nipah Virus Disease
Hypotension ORPHA:99825
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Ascites, Bradycardia, Hypertrophic... OMIM:614702
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Neonatal death, Atrioventric... OMIM:314390
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Diastasis recti, Splenomeg... OMIM:608149
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis ORPHA:134
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Pneumothorax,... OMIM:617402
Erdheim-Chester Disease
Renal insufficiency, Abnormal pericardium morphology, Dysuria, Retroperitoneal fibrosis, Congesti... ORPHA:35687
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hepatic steatosis, Congestive heart ... OMIM:203800
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebra... ORPHA:904
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Tricuspid... OMIM:612289
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... ORPHA:3260
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Failure to thrive, Pulmonic stenosis OMIM:619239
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Inguinal hernia, Mitral valve prolapse, Atrophic scars, Mitral regurgitation OMIM:225320
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hepatic steatosis, Tubulointerstitial nephritis, Death in childhood, Hypertrophic c... OMIM:614582
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Okamoto Syndrome
Omphalocele, Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence,... ORPHA:2729
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Elbow contract... OMIM:617137
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia OMIM:620184
Al Amyloidosis
Howell-Jolly bodies, Abnormality of the liver, Abnormal EKG, Hepatomegaly, Abnormality of the kid... ORPHA:85443
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Jaundice, Neutropenia ... ORPHA:525731
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Vesicou... OMIM:616894
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Atrial septa... OMIM:194050
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... ORPHA:363444
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosu... OMIM:601927
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hypert... ORPHA:90038
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... OMIM:617506
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmune thromb... OMIM:614470
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... ORPHA:727
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial endocar... ORPHA:1054
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Unilateral renal agenesi... OMIM:614576
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospa... ORPHA:353277
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Hypoxemia, Reduced left ventricular ejection fraction, ... ORPHA:542323
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hypotension, Renal salt wasting OMIM:264350
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarct... OMIM:620210
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Decreased glomerul... OMIM:232220
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Small for gestational age, Cardiomegaly, Hypertension, Death in childhood, Pulm... OMIM:613320
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Abnormal heart morphology, Congenital contracture, Jo... ORPHA:352490
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cyanosis, Abnormal co... ORPHA:3427
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubulointerstitial nep... ORPHA:358
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Patent ductus arteriosus, Persistence of he... OMIM:619769
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... ORPHA:42
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Inguinal hernia, Multiple joint contractures, Abnormal heart valve morphol... ORPHA:536471
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent respiratory infections, Recurrent urinary tract infections,... ORPHA:47612
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Cardiomyopathy, Leukopeni... ORPHA:27
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocyto... OMIM:603585
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Hernia ORPHA:98892
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hypotension, Renal salt wasting OMIM:203400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Inguinal hernia, Recurrent urinary tract infections, Ventricular septal def... ORPHA:268261
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hypertens... OMIM:619487
Meningococcal Meningitis
Shock, Renal insufficiency, Stroke, Hypotension ORPHA:33475
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subc... ORPHA:438213
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Flexion contractu... OMIM:300166
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, At... OMIM:610733
Microvillus Inclusion Disease
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology ORPHA:2290
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90033
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Abs... OMIM:176670
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa... ORPHA:363958
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Hypospadias, Abnormality of the kidney... ORPHA:1772
Immunodeficiency 27A
Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric l... OMIM:209950
Mend Syndrome
Limb hypertonia, Aortic valve stenosis, Failure to thrive, Abnormal heart morphology ORPHA:401973
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:881
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Flexion contracture, Camptodactyly of finger ORPHA:261519
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556037
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Ure... ORPHA:314585
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556030
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Neonatal death, Pulmonary... OMIM:619003
Vici Syndrome
Lymphopenia, Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Decreased propo... OMIM:242840
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Mitral regurgitation, Abdominal obesity, Aortic root aneurysm, Camptod... OMIM:301039
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Lipoatrophy, Left atrial enlargement, Flexion contracture, Right bun... OMIM:614008
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal... OMIM:614300
Werner Syndrome
Renal neoplasm, Skeletal muscle atrophy, Telangiectasia of the skin, Lipodystrophy, Myocardial in... ORPHA:902
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome... ORPHA:824
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... OMIM:603387
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Camptodactyly OMIM:618529
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating aspartate aminotrans... OMIM:614034
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Scarring, Hiatus hernia, Pneumothorax, Mitral valv... OMIM:601776
Hemochromatosis, Type 3
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn... ORPHA:33226
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contractur... OMIM:256040
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitatio... ORPHA:100079
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure... ORPHA:2331
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... ORPHA:509
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis... ORPHA:251071
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ascites, Hypovolemia, Capillary leak ORPHA:64739
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Tricuspid regurgitation ORPHA:228396
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f... OMIM:617403
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Obesity, Subvalvular aortic stenosis OMIM:600430
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Small for gestational age, Proteinuria, Congenit... ORPHA:2260
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Mitral regurgitation, Tricuspi... ORPHA:1101
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Brady... OMIM:617397
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypospadias, Obesity, Hypotension ORPHA:439822
Noonan Syndrome 5
Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:611553
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Hepatitis, Weight lo... ORPHA:199299
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Small for gestational age, Ventricular septal defect, Increas... OMIM:222470
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... OMIM:600649
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, Sudden ca... OMIM:201475
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Rhabdoid Tumor
Renal neoplasm, Weight loss, Anemia, Hypertension, Hematuria, Lymphadenopathy, Neoplasm of the li... ORPHA:69077
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Cardiomegal... OMIM:268800
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Stroke, Obesity ORPHA:3077
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... OMIM:205400
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Renal insufficiency, Fa... ORPHA:31826
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Hypovolemia, Sta... ORPHA:411634
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Heparan su... OMIM:607014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Decr... OMIM:271640
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hypernatriuria, Midshaft... ORPHA:168558
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Facial hypotonia, Mitral valve prolapse, Atrophic scars, Mitral regurgitation, C... OMIM:615539
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, L... ORPHA:116
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebell... OMIM:606054
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Mastocytosis, Arrhythmia, Failu... ORPHA:2135
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hypernatriuria, Midshaft... ORPHA:289548
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Thrombocytopenia, Leukocytosi... ORPHA:94093
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab... ORPHA:52
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Left ventricular hypertrophy, Ven... ORPHA:466791
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Snijders Blok-Campeau Syndrome
Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defec... OMIM:618205
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger ORPHA:261211
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Avian Influenza
Miscarriage, Congestive heart failure, Rhabdomyolysis, Hepatitis, Hypoxemia, Leukopenia, Lymphope... ORPHA:454836
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Mend Syndrome
Aortic valve stenosis, Failure to thrive, Crossed fused renal ectopia OMIM:300960
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Small for gestational age, Secundum atrial septal defect, Patent ductus ar... OMIM:613355
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Abnormality of the spleen, Splenomegaly, Flexion co... ORPHA:85212
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Mitral regurgitation OMIM:619750
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia... OMIM:263800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulm... OMIM:200995
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric... ORPHA:485405
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... ORPHA:576
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Pneumonia, Eosinophilia, Splenomega... OMIM:226990
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... ORPHA:449395
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Hepatoblastoma, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia,... OMIM:130650
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Obesity, Mitral regurgitation, Atri... ORPHA:254346
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguinal hernia, Rec... ORPHA:90349
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hypotension OMIM:177735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Stage 5 chronic kidney disease, Enlarg... ORPHA:79259
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Hyposp... ORPHA:261311
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Scheie Syndrome
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Aortic regurgitation ORPHA:93474
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Graves Disease, Susceptibility To, 1
Congestive heart failure, Abnormal abdomen morphology, Weight loss OMIM:275000
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congestive heart failure, Fatty replace... ORPHA:98908
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Hypotension ORPHA:79155
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypospadias,... OMIM:619475
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Eosinophilia, Pulmonic stenosis OMIM:618282
Carpenter Syndrome 1
Omphalocele, Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Obesity, Joint con... OMIM:201000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Abnormal myocardium morphology, Hy... ORPHA:77259
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Splenomeg... ORPHA:79277
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Patent ductus arteriosus, Abnormal hear... ORPHA:79076
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Lymphangioma, Arteriovenous malformation ORPHA:137608
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Cholera
Tachycardia, Abnormality of renal excretion, Miscarriage, Hypovolemic shock, Stroke, Hypotension,... ORPHA:173
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Abnormal dental enamel morpholog... ORPHA:2556
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Cholestasis, Anemia, Ascites, Perimembr... OMIM:608104
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Thromb... OMIM:277380
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Anemia, Death in infancy OMIM:618839
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Hyperkalemic Periodic Paralysis
Death in early adulthood, Death in infancy, Skeletal muscle atrophy, Congestive heart failure, Fl... ORPHA:682
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc... ORPHA:401935
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly ORPHA:309288
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hepatic st... OMIM:255120
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra... OMIM:123700
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Inguinal hernia, Arterial rupture OMIM:619115
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... OMIM:232300
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract ORPHA:1705
Mercury Poisoning
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Increased intraabdominal fat, Hypotension ORPHA:91349
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Abnormality of the ureter, Obesity ORPHA:1035
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Martsolf Syndrome 1
Inguinal hernia, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Micropenis OMIM:212720
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Listeriosis
Pericarditis, Liver abscess, Miscarriage, Myocarditis, Congestive heart failure, Jaundice, Perito... ORPHA:533
Aarskog-Scott Syndrome
Congestive heart failure, Inguinal hernia, Umbilical hernia, Camptodactyly of finger ORPHA:915
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Anemia OMIM:618835
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse ORPHA:309155
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... OMIM:270100
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... OMIM:618494
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Miscarriage, Renal salt wasting, Long penis, Hypovolemia, Weight loss, Elevated urinary ep... ORPHA:90794
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal se... OMIM:232200
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ... ORPHA:124
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Re... OMIM:603278
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury ORPHA:43116
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Small vessel vasculitis, Dilated cardiomyopathy, Anemia OMIM:608068
Myopathy, Centronuclear, 5
Hip contracture, Mitral regurgitation, Dilated cardiomyopathy OMIM:615959
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Patent ductus arter... ORPHA:163979
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Anemia, Hematuria, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Cardiomyopathy... OMIM:614922
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Mitral regurgitation, Restrictive cardiomyopathy, Knee flexion contr... OMIM:612954
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Vesicoureteral reflux, Atrial septal defect... OMIM:614261
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Coarctation of aorta,... OMIM:614114
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ... ORPHA:2516
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parachute mitral valve, Pat... OMIM:618316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contract... OMIM:616897
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... OMIM:613309
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Vesicoureteral ref... ORPHA:453504
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age OMIM:613706
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Vesicoureteral ref... ORPHA:352665
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Renal hypoplasia, Small thenar eminence, Joint contracture of the 4th finger, Jo... OMIM:618914
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... ORPHA:423
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Tetrasomy 5P
Pericallosal lipoma, Cyanosis, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall... ORPHA:3309
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pagod Syndrome
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Sud... ORPHA:991
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T... ORPHA:781
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... OMIM:194080
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Biliary atresia, Vesicourete... OMIM:115470
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neu... ORPHA:500095
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Ho... OMIM:609053
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Hip contracture, Mitral regurgitation, Mitral valve prolapse OMIM:606631
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Megalencephaly
Atrial septal defect, Truncal obesity, Long penis ORPHA:2477
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Glutaric aciduria, D-2-hydroxyglutaric aciduria OMIM:600721
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Lipoma, Subvalvular aortic steno... OMIM:613001
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227650
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Pituitary Apoplexy
Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... ORPHA:1926
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:600901
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size OMIM:229070
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... OMIM:212112
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Ascites, Mitral regurgitation, Camp... ORPHA:2848
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Myopathy, Left ve... OMIM:617713
Acrocardiofacial Syndrome
Death in infancy, Hypoplasia of penis, Ventricular septal defect, Truncus arteriosus, Camptodacty... ORPHA:2008
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus arteriosus, Jaundice, Umbilical he... OMIM:251290
Potocki-Lupski Syndrome
Small for gestational age, Abnormal renal morphology, Atrial septal defect, Failure to thrive, Pa... OMIM:610883
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... OMIM:600001
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... OMIM:220110
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropen... OMIM:616271
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, H... OMIM:158170
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... ORPHA:2255
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Burn-Mckeown Syndrome
Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial s... OMIM:608572
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Cachexia, Congestive heart ... ORPHA:558
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly OMIM:613576
Suleiman-El-Hattab Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Failure to thrive, Patent foram... OMIM:618950
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... OMIM:619758
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in t... ORPHA:391428
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati... OMIM:608022
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Multiple bladder diverticula, Proteinuria, Heart murmur ORPHA:2728
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Neutropenia, Iron deficiency... ORPHA:1667
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, Atrial septal defect... OMIM:616854
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Immunodeficiency 22
Pericarditis, Thrombocytopenia, Capillary leak, Ascites, Panniculitis, Decreased proportion of CD... OMIM:615758
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... ORPHA:91347
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... ORPHA:436271
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ... OMIM:620005
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... OMIM:620296
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Abruzzo-Erickson Syndrome
Atrial septal defect, Coronal hypospadias, Hypospadias, Abnormal localization of kidney ORPHA:921
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Unilateral renal age... ORPHA:261337
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Situs inversus totalis OMIM:609008
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Nephrocalcinosis, Facial hypotonia, Slender build OMIM:611087
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Obes... OMIM:620072
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri... ORPHA:365
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Tricuspid regurgitation, Bladder diverticulum, Mitral regurgitation, Atrophic sc... OMIM:614557
3Q29 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Subvalvular aortic stenosis, Pulmonary a... ORPHA:65286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Flexion contractu... ORPHA:314588
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Addison Disease
Normocytic anemia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Thia... ORPHA:85138
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Malformation of the hepatic ductal plate, R... OMIM:218330
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Horseshoe kidney, Neonatal death, Atrial septal defect,... OMIM:311900
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenop... ORPHA:39041
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic an... ORPHA:77297
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hyp... ORPHA:2519
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Small for gestational age, Ventricular septal defect,... OMIM:227645
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... ORPHA:220393
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Glomerulopathy, Renal insufficie... ORPHA:117
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Anemia, Leukopenia, Pelvic kid... OMIM:603467
Congenital Tracheomalacia
Failure to thrive, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, P... ORPHA:95430
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... OMIM:612582
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Facial palsy, Obesity, Heart murmur, Mitral valve prolapse, A... OMIM:615873
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen... OMIM:615688
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Scorpion Envenomation
Bundle branch block, Tachycardia, Ketonuria, Acute pancreatitis, Cardiac conduction abnormality, ... ORPHA:466677
Alveolar Echinococcosis
Liver abscess, Abnormal pericardium morphology, Portal hypertension, Eosinophilia, Cholangitis, H... ORPHA:284
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arterial hypert... ORPHA:261279
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261537
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... OMIM:619991
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi... ORPHA:428
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, ... OMIM:312870
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesen... ORPHA:707
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Decreased muscle mass, Ventricular septal d... OMIM:615582
Trichorhinophalangeal Syndrome, Type Ii
Inguinal hernia, Internal carotid artery dissection, Bicuspid aortic valve, Scapular winging, Myo... OMIM:150230
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septa... OMIM:620070
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Small for gestational age OMIM:615160
Fish-Eye Disease
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly ORPHA:79292
Kabuki Syndrome 2
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Decreased body weight, Atrial septal d... OMIM:300867
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... ORPHA:81
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261552
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome,... OMIM:607426
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Abnormality of the kidney ORPHA:466926
Poems Syndrome
Lipodystrophy, Thrombocytosis, Pericardial effusion, Weight loss, Lymphadenopathy, Ascites, Pulmo... ORPHA:2905
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neop... ORPHA:171
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Renal salt wasting, Hypotension, Failure to thrive, Penoscrotal hypospadias ORPHA:90791
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, ... ORPHA:397
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive, Coarctation of aorta OMIM:616069
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... ORPHA:228308
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:2152
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Acute... ORPHA:1052
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... ORPHA:73224
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Atrial septal defect, Pulmonary arterial... OMIM:616449
Monosomy 13Q34
Epistaxis, Fetal pyelectasis, Obesity, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic st... ORPHA:96168
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Small for gestational age OMIM:166210
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Dilat... ORPHA:90348
Aceruloplasminemia
Refractory anemia, Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hypochrom... ORPHA:48818
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Rhabdomyolysis, Oliguria, ST segment depression, Hypo... ORPHA:466650
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Hypotension, Limb hypertonia OMIM:608643
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... ORPHA:264580
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Lon... ORPHA:508
Hamamy Syndrome
Inguinal hernia, Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect... OMIM:611174
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy... ORPHA:3378
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypotension, Abnormal l... ORPHA:293978
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Hypospadias, Mitral valve prolapse, Coarctatio... ORPHA:93932
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:243150
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Atrial septal defect, Arrhythmia, Patent foramen ovale, Enamel hypoplasia OMIM:619184
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... OMIM:613812
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Decreased body we... OMIM:608013
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Generalized Pustular Psoriasis
Renal insufficiency, Overweight, Congestive heart failure, Leukocytosis, Obesity, Lymphopenia ORPHA:247353
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension ... OMIM:105210
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... ORPHA:488618
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... ORPHA:56
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... OMIM:181270
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong... ORPHA:1335
Fanconi Anemia
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Patent ductus arteriosus... ORPHA:84
Woods Syndrome
Ventricular septal defect OMIM:615236
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Patent foramen ovale, Obesity OMIM:618821
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... OMIM:227646
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... ORPHA:88
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Congestive heart failure, Patent ductus arteriosus, Obesi... ORPHA:444077
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Obesity, Knee flexion contracture,... OMIM:614976
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Small for gestational age, Hypospadias, Nephroblastoma, Embryonal r... OMIM:257300
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyly, Atrial septal... OMIM:614846
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Flexion contracture, Decreased body weight, Atrial septal defect, Fail... OMIM:617452
Noonan Syndrome 13
Atrial septal defect, Duplicated collecting system, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mit... ORPHA:251066
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Alexander Disease
Facial palsy, Sudden cardiac death, Hypertension, Hypotension, Failure to thrive ORPHA:58
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia ORPHA:75389
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Truncal obesity, D... OMIM:270450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv... OMIM:175050
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Fucosidosis
Hepatomegaly, Failure to thrive, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of... ORPHA:349
Mucopolysaccharidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... ORPHA:580
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary a... OMIM:620244
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Patent ductus arteriosus, Contracture of the proximal interphalangeal join... OMIM:618223
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Small for gestational ag... OMIM:260400
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Brucellosis
Liver abscess, Bronchitis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymp... ORPHA:1304
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Miscarriage, Splenomegaly, Per... ORPHA:71493
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Weight loss, Anemia, Hematuria, Pulmonary venous hypertension, Pulmona... ORPHA:90060
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... ORPHA:131
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal he... ORPHA:261197
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Umbilical hernia ORPHA:2181
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Pneumonia, Right ventricular hypertrophy OMIM:253700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Raynaud phenomenon, Neonatal al... ORPHA:51
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosi... ORPHA:90062
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... ORPHA:2463
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Decreased body weight, Atrial septal defect, F... ORPHA:505237
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar... ORPHA:36426
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... ORPHA:284227
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... ORPHA:892
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Secundum atrial septal defect, Pulmonic stenosis, Enamel hypoplasia, Fai... OMIM:615802
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Abnormality of th... ORPHA:276280
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hepatic steatosis, Skeletal muscle atrophy, Hypospadias, Abnormal renal collecting ... ORPHA:17
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Nephrocalcinosis, Neutropenia, Atrial septal defect, Joint contracture,... OMIM:618005
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale OMIM:620075
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:2655
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Renal agenesis, Ventricular septal defect, Patent ductus arter... OMIM:300514
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Left superior vena cava draining to coronary sinus, Camptodac... OMIM:611961
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmat... OMIM:619488
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal d... ORPHA:567
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... OMIM:220500
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca... ORPHA:99776
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Urinary incontinence, Pulmonary arterial hypertension OMIM:616482
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr... OMIM:309801
Lead Poisoning
Small for gestational age, Miscarriage, Chronic kidney disease, Imbalanced hemoglobin synthesis, ... ORPHA:330015
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Noonan Syndrome 14
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymp... OMIM:619745
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Failure to thr... ORPHA:1572
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Unilateral renal agenesis, Patent ductus ar... OMIM:620024
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Primary Pulmonary Hypoplasia
Cyanosis, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial sep... ORPHA:2257
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:93274
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia OMIM:618354
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Inguinal hernia, Umbilical hernia, Hypospadias ORPHA:2505
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Vascular dilatation, Patent ductus arteriosus, Arterial st... ORPHA:2637
Seckel Syndrome 9
Recurrent urinary tract infections, Ventricular septal defect, Small for gestational age, Congeni... OMIM:616777
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, ... ORPHA:373
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Hypospadias, Megacystis, Vesicoureteral reflux, Abnormal cardiac septu... ORPHA:209905
Joubert Syndrome 3
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Renal tubular dysfunction, Decreased body weight, Atrial septal defect,... OMIM:614886
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale, Epistaxis ORPHA:293939
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Duplicated collecting system, Inguinal hernia, Ventricular septal defect, L... OMIM:607721
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Urinary bladder sphincter dysfunction, Hypotension ORPHA:93256
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Left supe... ORPHA:464738
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis, Camptodactyly of finger ORPHA:896
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Weight loss... ORPHA:520
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Hematemesis, Pericardi... OMIM:615846
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Hypospadias, Congenital diaphragmatic hernia, Achilles tendon contracture, Pat... ORPHA:363528
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular c... OMIM:264480
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta ORPHA:1923
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmon... ORPHA:140952
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Coarctation of aorta, Ao... OMIM:617602
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Hepatosplenomegaly, Oligosacchariduria, Macroglossia, Camptodactyly, At... ORPHA:397709
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... OMIM:613845
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo... ORPHA:97362
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... OMIM:617159
Cranioectodermal Dysplasia 2
Hepatomegaly, Inguinal hernia, Renal insufficiency, Cholangitis, Splenomegaly, Patent ductus arte... OMIM:613610
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:618454
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ... ORPHA:51608
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hyd... OMIM:620327
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Arteria lusoria, Obesity, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvi... OMIM:618653
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... ORPHA:355
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... ORPHA:90307
Pallister-Killian Syndrome
Omphalocele, Renal dysplasia, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital... OMIM:601803
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Abnormal vena cava morphology, ... ORPHA:163956
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Hypospadias, Secundum atrial septal defect, Contracture of the proximal interpha... OMIM:618109
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cutis Laxa, Autosomal Dominant 2
Mitral regurgitation OMIM:614434
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Achilles tendon ... OMIM:252940
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... OMIM:185070
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia... OMIM:617022
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... ORPHA:71273
Shigellosis
Failure to thrive in infancy, Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Leukocy... ORPHA:810
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni... OMIM:249100
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul... ORPHA:261250
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... ORPHA:369891
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney OMIM:618188
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Sweet Syndrome
Acute myeloid leukemia, Myositis, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lym... ORPHA:3243
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hypertens... OMIM:612925
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Inguinal hernia, Recurrent urinary tract infections, Ventricular septal def... ORPHA:261330
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to th... OMIM:115150
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Renal insufficiency, Urinary incontinence, Miscarriage,... ORPHA:3385
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Inguinal hernia, Camptodactyly of fi... ORPHA:284984
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Immunodeficiency 92
Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory... OMIM:619652
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Prolactinoma
Hypotension ORPHA:2965
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypoc... OMIM:301040
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Small for gestational age ORPHA:621
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate OMIM:618182
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Obesity, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Hyper... ORPHA:369837
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Secundum atrial septal defect, Flexion con... OMIM:609069
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Atypical scarring of skin, Varicose veins, Atrophic scars, Pulmonic stenosis, ... OMIM:618343
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic... OMIM:612926
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent foramen ovale, Patent ductus arteriosus, Hypertrophy of the urinary bladder, ... ORPHA:280633
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula... OMIM:617063
Filippi Syndrome
Ventricular septal defect OMIM:272440
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Death in infancy, Ventricular septal defect, Eosinophili... OMIM:274000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Leukocytosis, Vasculitis, Lymphadenopa... OMIM:617099
Al Kaissi Syndrome
Atrial septal defect, Torticollis, Decreased body weight OMIM:617694
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcif... OMIM:208060
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachexia, Aortic valv... ORPHA:2072
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Omphalocele, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney... OMIM:235510
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Failure to thrive, Mitral valve prolapse OMIM:300986
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy... ORPHA:514
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Long penis, Nep... ORPHA:769
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Small for gestational age, Webbed penis,... ORPHA:97360
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the ... OMIM:244300
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Anemia, Camptodactyly, Atrial septal defect, Thrombocytopenia ORPHA:261323
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Holoprosencephaly
Omphalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:2162
Ellis Van Creveld Syndrome
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... ORPHA:289
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Glycopepti... OMIM:230000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Leopard Syndrome 1
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Complete atriovent... OMIM:151100
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Atrial septal defect, Ascites, Anemia OMIM:617300
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Scapular winging, Small for gestational age, Patent ductus arteriosus, Vesicouretera... OMIM:609625
Incontinentia Pigmenti
Telangiectasia of the skin, Abnormal dental enamel morphology, Camptodactyly of finger, Eosinophi... ORPHA:464
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis ORPHA:457193
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Unilateral renal agenesis, Secundum at... OMIM:619951
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Abnormality of the fascia, Dilatation of the ventricular cavity, Mitral val... ORPHA:85438
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Patent ductus arteriosus, Atrial sep... OMIM:617190
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic... OMIM:612924
Reactive Arthritis
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Abnormal pleura morpholog... ORPHA:29207
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Failure to thrive in infancy, Pulmonic stenosis, Atrial septal d... ORPHA:1340
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... OMIM:601678
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Multicystic kidney dyspl... ORPHA:261349
Smith-Lemli-Opitz Syndrome
Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom... OMIM:270400
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal... ORPHA:2059
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia OMIM:617260
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Abnormal mesentery morp... ORPHA:3463
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Myopathy, Myofibrillar, 8
Recurrent lower respiratory tract infections, Mitral regurgitation, Joint contracture of the 5th ... OMIM:617258
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin ORPHA:98791
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, 4-hydroxyphenylacetic aciduria, Congestive heart failure, Microvesicular hepati... OMIM:617156
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal d... ORPHA:1519
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis,... OMIM:610505
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:258450
Bdv Syndrome
Atrial septal defect, Micropenis, Obesity OMIM:619326
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Peripheral pulmonary arte... OMIM:613177
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Splenomegaly, Leukocytosis, Vasculitis, Recurrent pharyngitis, Peritonit... ORPHA:32960
Mosaic Trisomy 16
Small for gestational age, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hors... ORPHA:1708
Duane-Radial Ray Syndrome
Renal malrotation, Ventricular septal defect, Renal agenesis, Facial palsy, Vesicoureteral reflux... OMIM:607323
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Renal cyst, Knee flexion contracture, Death in childhood, Atrial septal defe... OMIM:210710
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Coarctation of aorta, C... OMIM:619178
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Zaki Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619648
Sotos Syndrome
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ... OMIM:117550
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa... OMIM:163950
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Enlarged ovaries, Ventricular septal defect, Hypospadias, Congenita... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Decreased body weight OMIM:618665
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Congenit... ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Patent ductu... OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegal... ORPHA:50918
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Tricuspid regurgitation, Hypophosphaturia, Localized hypoplasia of dental enamel, Mitral regurgit... ORPHA:73223
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypospadias OMIM:619314
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Tetralogy of Fallot, Horseshoe kidney, Atrial septal defe... ORPHA:2886
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Inguinal hernia, Abnormal mitral valve morphology ORPHA:1292
Alagille Syndrome 1
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... OMIM:118450
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Hypospadias, Atrial septal defect, Wrist flexion contracture, Peripheral pulmona... ORPHA:436003
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ad... ORPHA:581
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalous pulmonary v... OMIM:616368
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... OMIM:241200
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... OMIM:620025
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Annular pancreas, Congenital... ORPHA:97297
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Patent ductus arte... ORPHA:96167
White-Sutton Syndrome
Duplicated collecting system, Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus ar... OMIM:616364
Alazami Syndrome
Atrial septal defect ORPHA:319671
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Inguinal hernia, Duplicated collecting system, ... OMIM:280000
Distal Deletion 10Q
Scapular winging, Patent ductus arteriosus, Functional abnormality of the bladder, Vesicoureteral... ORPHA:96148
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Small for gestational age, Failure to thrive in infancy, Hypospadias, Flexion contracture, Genera... OMIM:618891
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia OMIM:610978
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Abnormality of the abdominal organ... ORPHA:2409
3Mc Syndrome 1
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Diastasis recti, Patent duct... OMIM:257920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Larg... OMIM:614080
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Failure to thrive, Small for gestational age OMIM:620194
Marshall-Smith Syndrome
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contracti... OMIM:602535
Bohring-Opitz Syndrome
Ventricular septal defect, Hyperechogenic pancreas, Flexion contracture, Vesicoureteral reflux, C... OMIM:605039
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Camptodactyly of finger, Facial palsy, Splenomegal... ORPHA:90340
Wiedemann-Steiner Syndrome
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... OMIM:605130
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia, Limb hypertonia ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Weight loss, T... ORPHA:31205
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Alg12-Cdg
Hypospadias, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertro... ORPHA:79324
Camurati-Engelmann Disease
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... ORPHA:1328
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Hernia OMIM:616603
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney ORPHA:1860
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi... OMIM:218040
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia... ORPHA:1692
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Weight loss, Ascend... ORPHA:449400
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Patent ductus arteriosus after birth at term, Enuresis noct... ORPHA:251061
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Flexion contracture, Atrial septal defect, Annular pancre... OMIM:147791
Lymphatic Malformation 6
Splenomegaly, Varicose veins, Cellulitis, Atrial septal defect, Intestinal lymphangiectasia, Ascites OMIM:616843
Fryns Syndrome
Omphalocele, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospad... OMIM:229850
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Increa... ORPHA:1359
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphra... OMIM:619503
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:617360
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Failure to thrive OMIM:620242
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Small for gestational age, Phimosis, Patent ductus arteriosus, Coarctation of ao... ORPHA:363611
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a... OMIM:617140
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation ORPHA:313892
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Coarctat... OMIM:617729
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Autosomal Recessive Robinow Syndrome
Death in infancy, Inguinal hernia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmo... ORPHA:1507
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Vesicoureteral reflux, Peripheral pulmonary artery stenosis OMIM:614749
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Patent foramen ovale, Hydronephrosis OMIM:619179
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Atrial septal defect, Ar... ORPHA:85201
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Oroticaciduria, Stage 5 ch... OMIM:222700
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Hepatosplenome... ORPHA:309282
Oculodentodigital Dysplasia
Neurogenic bladder, Joint contracture of the 5th finger, Atrial septal defect, Arrhythmia, Enamel... OMIM:164200
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Lymph... ORPHA:667
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Patent ductus arteriosus ORPHA:1790
Keutel Syndrome
Ventricular septal defect ORPHA:85202
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypospadias, Patent ductus arteriosus, Micropenis, Failure to thrive, ... OMIM:607143
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Vesicoureteral reflux OMIM:609460
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pancreatic steato... OMIM:617052
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Maternal Phenylketonuria
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a... ORPHA:2209
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Exocrine pancreatic insufficiency OMIM:260450
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Arterial rupture, Bladder... OMIM:225400
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... ORPHA:3472
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... ORPHA:363700
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Ventricular septal defect, Small for gestational ag... ORPHA:508488
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias ORPHA:2522
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Death i... OMIM:300868
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted... OMIM:300712
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Respiratory tract infection, Myocarditis, Leu... ORPHA:544482
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola... OMIM:618371
Geleophysic Dysplasia 3
Hepatomegaly, Mitral regurgitation, Pneumonia OMIM:617809
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Abnormal a... ORPHA:2462
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Abnormal renal morphology, Camptodactyly OMIM:207410
Tetrasomy 9P
Myositis, Biliary atresia, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent gall... ORPHA:3310
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Spinocerebellar Ataxia Type 7
Congestive heart failure, Failure to thrive ORPHA:94147
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Gabriele-De Vries Syndrome
Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Ureteropelvic juncti... OMIM:617557
Neurodevelopmental Disorder With Spasticity And Poor Growth
Achilles tendon contracture, Patent ductus arteriosus, Knee flexion contracture, Vesicoureteral r... OMIM:618076
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aor... OMIM:130050
Coffin-Siris Syndrome
Ventricular septal defect, Hypospadias, Hepatoblastoma, Patent ductus arteriosus, Horseshoe kidne... ORPHA:1465
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Renal tubular acidosis, Mac... OMIM:613457
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger... ORPHA:96334
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Inguinal hernia OMIM:620183
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect, Coarctation of aorta OMIM:244450
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Vesicovaginal fistula, Hypertension, Atrial septal defect, En... OMIM:300896
Charge Syndrome
Secundum atrial septal defect, Pulmonary artery atresia, Atrial septal defect, Micropenis, Aplasi... OMIM:214800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Rubinstein-Taybi Syndrome 1
Flexion contracture, Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial septal defect, Patent ... OMIM:180849
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Atrial septal defect, Annu... OMIM:618162
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Renal dysplasia, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal a... OMIM:308205
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Inguinal hernia, Small for gestational age... ORPHA:666
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... ORPHA:2322
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, A... ORPHA:847
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical... OMIM:618143
Poland Syndrome
Duplicated collecting system, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Renal h... ORPHA:2911
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis OMIM:300968
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79345
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Abnormal internal carotid... ORPHA:97685
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Increased size of nasopharyngeal adenoids, Mitral regurgitation, Patent... ORPHA:457395
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... OMIM:203500
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight ORPHA:1051
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Failure to thrive, Multicystic kidney dysplasia, Ventricular septal defect, Facial p... OMIM:300373
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Leiomyosa... ORPHA:139411
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Fibrochondrogenesis 1
Omphalocele, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent foramen ovale,... OMIM:300990
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Re... OMIM:193300
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Atrial septal defect, Micropenis, ... ORPHA:398069
Codas Syndrome
Ventricular septal defect ORPHA:1458
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Small for gestational age, Portal hypertension, Hypospad... OMIM:243800
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Char Syndrome
Ventricular septal defect ORPHA:46627
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... ORPHA:64
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Facial palsy, Prolonged neonatal jaundice, Atrial septal defect, Pulmonary... OMIM:620186
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... OMIM:600460
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Sudden cardiac death, Leukocytosis, W... ORPHA:764
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Distal Deletion 12Q
Failure to thrive in infancy, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture... ORPHA:96149
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Esophageal Atresia
Omphalocele, Cyanosis, Small for gestational age, Ventricular septal defect, Failure to thrive in... ORPHA:1199
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Limb hypertonia OMIM:616920
Neurocardiofaciodigital Syndrome
Small for gestational age, Patent ductus arteriosus, Tetralogy of Fallot, Vesicoureteral reflux, ... OMIM:619869
Ellis-Van Creveld Syndrome
Atrial septal defect, Epispadias, Common atrium, Hypospadias OMIM:225500
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger... OMIM:249000
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Yellow Fever
Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase... ORPHA:99829
Diphallia
Ureteral duplication, Inguinal hernia, Renal malrotation, Hypospadias, Distal urethral duplicatio... ORPHA:227
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus ORPHA:2108
Codas Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Enam... OMIM:600373
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Small for gestational age, Glandular hypospadias ORPHA:1439
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cigarette-paper scars, Varico... ORPHA:286
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pat... OMIM:616268
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Limb hypertonia, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Hypospadias, Congenital diaphragmatic hernia, Abnormality of the... ORPHA:280
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Macroglossi... OMIM:269150
Spondyloocular Syndrome
Atrial septal defect, Decreased body weight, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Weight loss OMIM:607459
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia, Enthesitis OMIM:106300
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Abnormal aortic morpholog... ORPHA:1001
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Bardet-Biedl Syndrome 20
Proteinuria, Obesity, Atrial septal defect, Micropenis, Pancreatitis OMIM:619471
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia OMIM:250790
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney ORPHA:268249
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Malignant Migrating Focal Seizures Of Infancy
Failure to thrive, Aortopulmonary collateral arteries ORPHA:293181
Microphthalmia, Syndromic 1
Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Camp... OMIM:309800
Ogden Syndrome
Torticollis, Ventricular septal defect ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Fetal pyelectasis, Atrial septal defect, Arthrogryposis multipl... OMIM:619512
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Unilateral renal agenesis, Large for gestational age, Patent ductus arteriosus, ... OMIM:213980
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Tetralogy of Fallot, Re... OMIM:309500
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... ORPHA:49
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Orofaciodigital Syndrome Vi
Renal agenesis, Coarctation of aorta, Hypoplastic left heart, Failure to thrive, Renal dysplasia OMIM:277170
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Um... ORPHA:96191
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Arthrogryposis multiplex congenita, Micropenis, Hepatomegaly OMIM:620076
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Double outlet right ventricle, Ventricular septal defect, Pul... OMIM:301056
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se... OMIM:147920
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Mowat-Wilson Syndrome
Hypospadias, Ventricular septal defect, Abnormality of the kidney, Pulmonary artery sling, Patent... OMIM:235730
Floating-Harbor Syndrome
Small for gestational age, Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy... ORPHA:2044
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Polycystic kidney dysplasia, Congenital diaphragmatic hernia OMIM:616546
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi... OMIM:619268
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Ascending aorta hy... ORPHA:141127
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Meester-Loeys Syndrome
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... OMIM:300989
Cerebrocostomandibular Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, R... OMIM:117650
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas... OMIM:620305
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Dilatation of the ventricular cavity, Pu... ORPHA:459070
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Vacuolated lymphocytes, M... OMIM:208400
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... ORPHA:3047
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Limb Body Wall Complex
Ventral hernia, Ventricular septal defect, Abnormality of the kidney, Congenital diaphragmatic he... ORPHA:2369
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Peters-Plus Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Bilobate gallbladder, Diastasis rec... OMIM:261540
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... OMIM:301022
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Atr... OMIM:617088
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars... ORPHA:287
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyl... OMIM:613458
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Coffin-Siris Syndrome 12
Hypospadias, Facial palsy, Tetralogy of Fallot, Heart murmur, Horseshoe kidney, Failure to thrive... OMIM:619325
Floating-Harbor Syndrome
Inguinal hernia, Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Cong... OMIM:136140
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Mitral regurgitation, Urinary incontinence ORPHA:447753
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Transient ischemic attack, Unilateral renal age... ORPHA:500150
Prader-Willi Syndrome Due To Translocation
Abnormality of the kidney, Patent ductus arteriosus, Obesity, Abnormal heart morphology, Patent f... ORPHA:177907
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Leukemia, Panniculitis, Cellulitis ORPHA:2526
Joubert Syndrome 14
Ventricular septal defect OMIM:614424
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect ORPHA:166035
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... ORPHA:857
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Torticollis, Hypospadias, Horseshoe kidney, Knee flexion contracture, Total anom... OMIM:609945
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Restrictive Dermopathy 1
Ureteral duplication, Limb joint contracture, Hypospadias, Patent ductus arteriosus, Flexion cont... OMIM:275210
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Aplasia of the righ... OMIM:619841
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Neu-Laxova Syndrome 1
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Yellow subcutaneous tissue c... OMIM:256520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... OMIM:616975
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia, Horseshoe kidney, Patent foramen ... ORPHA:221120
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Hypospadi... ORPHA:821
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Renal Agenesis
Ventricular septal defect ORPHA:411709
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Small for gestation... OMIM:107480
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Catel-Manzke Syndrome
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta,... OMIM:616145
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of fi... ORPHA:1662
Loeys-Dietz Syndrome
Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Atypical ... ORPHA:60030
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Small for gestational age, Hy... OMIM:194190
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Patent ductu... OMIM:268300
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial ... ORPHA:480880
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Coffin-Siris Syndrome 1
Inguinal hernia, Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic he... OMIM:135900
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Small for gestational age, Facial hypotonia, Ebstein anomaly of the... ORPHA:506358
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
C Syndrome
Ventricular septal defect OMIM:211750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... OMIM:619522
Pallister-Hall Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Large for ges... ORPHA:672
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect OMIM:235255
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Umbilical hernia, Micropenis, Patent foramen ovale OMIM:613884
Acromegaly
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Ectopic kidney, Flexion contracture, Arthrogryposis multiplex conge... OMIM:263650
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis ORPHA:488632
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Unil... OMIM:619480
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Congen... ORPHA:199
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of finger ORPHA:3138
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Small for gestational age, Lipoatroph... OMIM:264090
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Unilateral renal hypoplasia, Atr... OMIM:615948
Phelan-Mcdermid Syndrome
Ventricular septal defect OMIM:606232
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Ventricular septal defect OMIM:614653
Otopalatodigital Syndrome, Type Ii
Omphalocele, Hypospadias, Elbow contracture, Stillbirth, Atrial septal defect, Umbilical hernia, ... OMIM:304120
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect OMIM:619229
Somatomammotropinoma
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy ORPHA:314769
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Limb hypertonia, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Mgat2-Cdg
Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Focal Dermal Hypoplasia
Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... ORPHA:2092
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect ORPHA:1655
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Chordee, Patent foramen ovale, Hypospadias ORPHA:477993
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Ventricular septal defect OMIM:214100
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Unilateral renal agenesis, Secundum atrial septal defect, Lymphangio... ORPHA:99646
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect ORPHA:2962
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Ventricular septal defect, Knee flexion contractur... OMIM:606170
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Distal arthrogryposis, Ventricular septal defect OMIM:618268
Yunis-Varon Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Hypospadias, ... OMIM:216340
Pallister-Hall Syndrome
Neonatal death, Ventricular septal defect OMIM:146510
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Faciocardiomelic Syndrome
Common atrium, Large for gestational age OMIM:612731
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:33364
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney, Coarctation of aorta OMIM:163200
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect OMIM:619575
Diets-Jongmans Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect OMIM:619418
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:122470
Coffin-Lowry Syndrome
Uterine prolapse, Mitral regurgitation, Inguinal hernia, Decreased body weight OMIM:303600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Microphthalmia, Syndromic 3
Ventricular septal defect OMIM:206900
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:154400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Agenesis of the diaphragm, Ventricular septal... OMIM:236680
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Hajdu-Cheney Syndrome
Ventricular septal defect OMIM:102500
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Hypoplasia of facial mus... OMIM:164210
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Nicolaides-Baraitser Syndrome
Umbilical hernia, Inguinal hernia, Failure to thrive, Coarctation of aorta OMIM:601358
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Neuroocular Syndrome
Umbilical hernia, Scapular winging, Patent foramen ovale OMIM:619539
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect OMIM:616682
Keutel Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:245150
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries OMIM:192350
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Ulnar-Mammary Syndrome
Elbow flexion contracture, Ventricular septal defect OMIM:181450
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Digeorge Syndrome
Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:188400

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 Klf3

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 Klf3.

No publications found that use IMPC mice or data for Klf3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Klf3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klf3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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