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Gene: Adora2a MGI:99402

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Gene Summary

Name:
adenosine A2a receptor
Synonyms:
A2AAR,  ARA2A,  A2a, Rs,  AA2AR,  A2aR

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Adora2aem1(IMPC)H HOM Late adult 7.15×10-28
increased circulating glucose level Adora2aem1(IMPC)H HOM Early adult 3.55×10-05
increased neutrophil cell number Adora2aem1(IMPC)H HOM Late adult 1.95×10-07
decreased hemoglobin content Adora2aem1(IMPC)H HOM   Late adult 2.49×10-05
increased fasting circulating glucose level Adora2aem1(IMPC)H HOM Early adult 8.50×10-05
increased circulating aspartate transaminase level Adora2aem1(IMPC)H HOM Late adult 1.50×10-12
decreased lymphocyte cell number Adora2aem1(IMPC)H HOM Late adult 1.35×10-05

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Viewing: all phenotypes

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 Adora2a 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.

The table below shows human diseases associated to Adora2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549

The table below shows human diseases predicted to be associated to Adora2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Recu... OMIM:268500
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Right... OMIM:178600
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... OMIM:265450
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... OMIM:234810
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Bronchopulmonary Dysplasia
Right ventricular failure, Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Immunodeficiency 40
Lymphopenia OMIM:616433
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary arterial hypertensio... OMIM:265400
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... OMIM:253700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Immunodeficiency 8
Lymphopenia OMIM:615401
Myopia 22, Autosomal Dominant
Myopia, Reduced visual acuity, Visual impairment OMIM:615420
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... ORPHA:860
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Right ventricular hypertrophy, Pulmonary arterial hypertension, Tricuspid ... ORPHA:275766
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... OMIM:106700
Night Blindness, Congenital Stationary, Type 1E
Myopia, Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:614565
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Pulmonary arterial hypertension, C... ORPHA:2414
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Ventricular septal def... ORPHA:99095
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Hepatomegaly, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial pa... OMIM:612387
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, Left ... ORPHA:353
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Myopia, Spastic ataxia OMIM:271320
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Exertional dyspnea, Abnormal EKG, Aortic valve stenosis, Abnormal... ORPHA:2041
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Classic Multiminicore Myopathy
Right ventricular failure, Multiple joint contractures, Increased muscle lipid content, Mitral va... ORPHA:324604
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Paroxysmal dyspnea, Left atrial e... ORPHA:563
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Trimethylaminuria
Hypertension, Depression, Tachycardia OMIM:602079
Blue Cone Monochromacy
Myopia, Photophobia, Reduced visual acuity, Blue cone monochromacy, Visual impairment OMIM:303700
Night Blindness, Congenital Stationary, Type 1F
Myopia, Congenital stationary night blindness OMIM:615058
Coproporphyria, Hereditary
Hypertension, Anxiety, Depression, Tachycardia OMIM:121300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistaxis, Impaired ... OMIM:619267
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Glaucoma, Primary Open Angle
Myopia OMIM:137760
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... ORPHA:99104
Spastic Ataxia-Corneal Dystrophy Syndrome
Myopia, Gait disturbance, Ataxia, Spastic ataxia ORPHA:2572
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Myopia 6
Myopia OMIM:608908
Myopia 18, Autosomal Recessive
Myopia OMIM:255500
Myopia 15, Autosomal Dominant
Myopia OMIM:612717
Myopia 9
Myopia OMIM:609258
Myopia 10
Myopia OMIM:609259
Myopia 7
Myopia OMIM:609256
Myopia 8
Myopia OMIM:609257
Myopia 24, Autosomal Dominant
Myopia OMIM:615946
Myopia 1, X-Linked
Myopia OMIM:310460
16P11.2P12.2 Microduplication Syndrome
Dystonia, Myopia, Attention deficit hyperactivity disorder ORPHA:261204
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Pericardial effusion, Systolic heart murmur, Tachypnea, Right ventricula... ORPHA:555874
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Exertional dyspnea, Anomalous origin o... ORPHA:99050
Limited Cutaneous Systemic Sclerosis
Contractures involving the joints of the feet, Pulmonary arterial hypertension, Telangiectasia of... ORPHA:220402
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Immunodeficiency 19
Lymphopenia OMIM:615617
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Abnormal platelet aggregation, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... ORPHA:185
Choroideremia
Myopia, Progressive visual loss, Abnormality of vision, Nyctalopia, Visual impairment ORPHA:180
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary hypoplasia, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Glaucoma 1, Open Angle, A
Myopia OMIM:137750
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Polydactyly, Postaxial, With Progressive Myopia
Myopia OMIM:174310
Cataract 42
Myopia OMIM:115900
Glaucoma-Related Pigment Dispersion Syndrome
Myopia OMIM:600510
Leukodystrophy, Hypomyelinating, 11
Myopia, Ataxia OMIM:616494
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... OMIM:265120
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Pulmonary embolism... ORPHA:228116
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Cataract 12, Multiple Types
Myopia OMIM:611597
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Central scotoma, Reduced visual acuity, Color vision test ab... ORPHA:49382
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Reduced visual acuity, Visual impairment, Color vision defect, Photophobia, Nyctalopia OMIM:304020
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... ORPHA:3287
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Åland Islands Eye Disease
Myopia, Reduced visual acuity, Color vision defect, Difficulty adjusting from light to dark, Asti... ORPHA:178333
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Meconium Aspiration Syndrome
Pulmonary insufficiency, Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hyper... ORPHA:70588
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Dementia, Motor deterioration, Cognitive impairment, Tachycardia, Loss of ability to w... ORPHA:79264
5Q35 Microduplication Syndrome
Myopia ORPHA:228415
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Pulmonary arteria... ORPHA:1457
Autosomal Recessive Spastic Paraplegia Type 45
Myopia, Spastic gait ORPHA:320396
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... ORPHA:199241
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Congenital diap... ORPHA:1166
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Glanzmann Thrombasthenia 1
Intracranial hemorrhage, Impaired clot retraction, Epistaxis, Decreased platelet glycoprotein IIb... OMIM:273800
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension OMIM:613623
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Night Blindness, Congenital Stationary, Type 1H
Mild myopia, Hypermetropia, Nyctalopia, Photophobia OMIM:617024
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Pulmonary Arteriovenous Malformation
Telangiectasia, Hypoxemia, Bacterial endocarditis, Palpitations, Epistaxis, Pulmonary arterial hy... ORPHA:2038
Absence Of The Pulmonary Artery
Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... ORPHA:980
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... ORPHA:276556
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia ORPHA:1208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Exertional dyspnea, Ventricular septal defect, Mitral regurgitati... ORPHA:3092
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... ORPHA:412066
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Synaptic Congenital Myasthenic Syndromes
Myopathy, Neonatal respiratory distress, Hand muscle weakness, Respiratory insufficiency, Skeleta... ORPHA:98915
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Sveinsson Chorioretinal Atrophy
Myopia, Astigmatism OMIM:108985
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... ORPHA:45452
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... ORPHA:276575
Congenital Stationary Night Blindness
Myopia, Hypermetropia, Reduced visual acuity, Color vision defect, Nyctalopia, Congenital station... ORPHA:215
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Truncus Arteriosus
Truncus arteriosus, Pulmonary edema, Pulmonary artery stenosis, Interrupted aortic arch, Ventricu... ORPHA:3384
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Dysphagia, Cardiomyopathy OMIM:255100
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent ... ORPHA:85202
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect OMIM:613355
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... ORPHA:276580
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... ORPHA:95430
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonary arterial hypertension, Splenomegaly, Pulmonic stenosis, ... OMIM:616028
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Central scotoma, Reduced visual acuity, Color vision defect, Astigmatism, Photophobia, Vi... OMIM:300476
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... ORPHA:1209
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Abnormal tricuspid valve morphology, Gastrointestinal he... ORPHA:90308
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Tachycardia, Increased body weight, Lethargy ORPHA:276608
Stiff-Person Syndrome
Hypertension, Agoraphobia, Exaggerated startle response, Tachycardia, Anxiety, Depression OMIM:184850
Retinal Cone Dystrophy 3B
Myopia, Scotoma, Astigmatism, Photophobia, Nyctalopia OMIM:610356
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Gastrointestinal hemorrhag... OMIM:173470
Spastic Paraplegia 45, Autosomal Recessive
Myopia, Spastic gait OMIM:613162
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Polyphagia, Small for gestational age, Palpitations, Tachycardia, Large for gestational ... ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Antisynthetase Syndrome
Myocarditis, Respiratory insufficiency, Myositis, Aortic regurgitation, Pulmonary arterial hypert... ORPHA:81
Retinal Capillary Malformation
Myopia, Vitreous floaters, Progressive visual loss, Amblyopia, Reduced visual acuity, Paracentral... ORPHA:71213
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... OMIM:604250
Optic Atrophy 11
Myopia, Hypermetropia, Dysmetria, Amblyopia, Hyperactivity, Ataxia, Visual impairment OMIM:617302
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Myopia, Waddling gait, Blue sclerae OMIM:184000
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... ORPHA:662
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Myocardial fibrosis, Cardiomyopathy, Left ventricular hype... OMIM:613873
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Aland Island Eye Disease
Myopia, Astigmatism, Severely reduced visual acuity OMIM:300600
Hurler-Scheie Syndrome
Hepatomegaly, Obstructive sleep apnea, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... OMIM:607015
Achromatopsia 3
Severely reduced visual acuity, Monochromacy, High myopia, Achromatopsia, Photophobia, Dyschromat... OMIM:262300
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Myopia, Ataxia, Inability to walk, Waddling gait, Broad-based gait OMIM:616756
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Total anomalous pulmonary veno... OMIM:613854
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Myopia OMIM:614199
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Anxiety, Arrhythmia ORPHA:464453
Gaucher Disease, Type I
Hypertension, Hepatomegaly, Mitral regurgitation, Epistaxis, Pulmonary arterial hypertension, Spl... OMIM:230800
Braddock Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Congenital muscular torticollis, ... ORPHA:52047
Mohr-Tranebjaerg Syndrome
Myopia, Dystonia, Reduced visual acuity, Cerebral visual impairment, Constriction of peripheral v... OMIM:304700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... OMIM:615474
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Visual impairment ORPHA:1574
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Paragangliomas 3
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:605373
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Oguchi Disease
Myopia, Congenital stationary night blindness, Diplopia, Abnormality of refraction, Visual impair... ORPHA:75382
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Polydactyly-Myopia Syndrome
Myopia ORPHA:2917
Retinal Dystrophy And Obesity
Myopia, Reduced visual acuity, Visual impairment, Astigmatism OMIM:616188
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Left atrial enlargement, Atrial fibrillation,... ORPHA:75249
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Retinitis Pigmentosa 1
Myopia, Nyctalopia, Constriction of peripheral visual field OMIM:180100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Snakebite Envenomation
Intracranial hemorrhage, Pseudobulbar paralysis, Epistaxis, Tachycardia, Cerebral ischemia, Cardi... ORPHA:449285
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Hereditary Central Diabetes Insipidus
Weight loss, Irritability, Polydipsia, Lethargy ORPHA:30925
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Visual impairment OMIM:600790
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Internal hemorrhage, Right ventricular hypertrophy, Tachycardia ORPHA:335
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Wagner Vitreoretinopathy
Visual loss, Myopia, Visual field defect OMIM:143200
Paragangliomas 1
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:168000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Impaired ADP-induced platelet aggregation OMIM:609821
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Abnormal heart morphology, Pulmonary arterial ... ORPHA:206572
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Right ventricular dilatation, Palpitations, ... ORPHA:70591
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect OMIM:608406
Loeffler Endocarditis
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Palpitations,... ORPHA:75566
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormal heart morphology, Recurrent upper respiratory tract infections, Pulmonary arterial hyper... ORPHA:391372
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Congestive hear... ORPHA:220393
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Leber Hereditary Optic Neuropathy
Ataxia, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Retinitis Pigmentosa 2
Myopia, Nyctalopia, Constriction of peripheral visual field OMIM:312600
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Neonatal respiratory distress, Dysplastic tricuspid valve, Misalignment of... OMIM:265380
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Splenomegaly, Pulmonic ... OMIM:608149
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Paroxysmal dyspnea, Mitral atresia, Low-output congestive heart failur... ORPHA:99125
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arterial hypertension OMIM:614857
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
16P12.1P12.3 Triplication Syndrome
Skin-picking, Failure to thrive, Tachycardia, Hyperactivity, Anxiety, Attention deficit hyperacti... ORPHA:485405
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Hypertryptophanemia
Myopia, Visual impairment OMIM:600627
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Absent muscle fiber merosin, Reduced ejection fraction, Respiratory ... ORPHA:258
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Pericarditis, Myositis, Pleuritis, Pulmonary arterial hypertension, Sp... ORPHA:809
Progressive Bifocal Chorioretinal Atrophy
Myopia, Visual impairment ORPHA:75373
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Lethargy OMIM:229700
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:613404
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormality of the pulmonary artery, Atria... ORPHA:290
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Osteoporosis-Pseudoglioma Syndrome
Moderately reduced visual acuity, Blue sclerae, Loss of ability to walk, Waddling gait, Congenita... ORPHA:2788
Exudative Vitreoretinopathy 6
Progressive visual loss, Myopia OMIM:616468
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Myopia, Hypermetropia, Ataxia, Inability to walk, Astigmatism, Attention deficit hyperactivity di... OMIM:619556
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Dysplastic aortic valve, Endocarditi... ORPHA:3093
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation,... ORPHA:96369
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Anxiety, Depression, Lethargy ORPHA:178029
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... OMIM:208085
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Aortic r... ORPHA:363618
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia OMIM:613759
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Reduced visual acuity OMIM:602499
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Serotonin Syndrome
Hypertension, Tachycardia, Irritability, Mental deterioration, Anxiety, Hypotension ORPHA:43116
Bietti Crystalline Corneoretinal Dystrophy
Progressive visual loss, High myopia, Paracentral scotoma, Constriction of peripheral visual fiel... OMIM:210370
Bornholm Eye Disease
Protanopia, Deuteranopia, Amblyopia, High myopia, Astigmatism OMIM:300843
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia OMIM:609508
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myopia, Dysmetria, Inability to walk, Gait ataxia, Visual impairment OMIM:617810
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Familial Thrombocytosis
Syncope, Pulmonary arterial hypertension, Cerebral ischemia, Splenomegaly, Transient ischemic att... ORPHA:71493
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Abnormal hemidiaph... ORPHA:2257
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... ORPHA:86812
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arterial hypertension, Respirator... ORPHA:3309
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Myopathy, Pericarditis, Pulmonary arterial hyper... ORPHA:801
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Porphyria, Acute Intermittent
Hypertension, Anxiety, Depression, Tachycardia OMIM:176000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... OMIM:601399
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension,... OMIM:614921
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction, Transien... ORPHA:464343
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Exerti... ORPHA:97214
Lopes-Maciel-Rodan Syndrome
Dystonia, Myopia, Unsteady gait, Bradykinesia OMIM:617435
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Retinopathy, Pigmentary, And Mental Retardation
Myopia, Reduced visual acuity, Visual impairment OMIM:268050
Von Willebrand Disease, Type 3
Joint hemorrhage, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggrega... OMIM:277480
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Astigmatism, Inability to walk, Myopia OMIM:617802
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Blue sclerae ORPHA:66633
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Lamb-Shaffer Syndrome
Myopia OMIM:616803
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Intellectual Developmental Disorder, X-Linked 58
Myopia OMIM:300210
Neuroectodermal Melanolysosomal Disease
Myopia, Ataxia ORPHA:33445
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, ... OMIM:267010
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Respiratory insufficiency, Mitral regurgitation, Pulmonary arterial hypertension, P... OMIM:612541
Night Blindness, Congenital Stationary, Type 1A
Myopia, Hemeralopia, High myopia, Congenital stationary night blindness OMIM:310500
Ataxia-Pancytopenia Syndrome
Gait disturbance, Abnormal platelet function, Decreased circulating antibody level, Ataxia, Unste... ORPHA:2585
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Prolong... OMIM:231200
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Myopia, Visual impairment ORPHA:2786
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Dextrocardia
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... ORPHA:1666
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Myopia, Inability to walk, Difficulty walking OMIM:611890
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Myopia 23, Autosomal Recessive
High myopia, Reduced visual acuity, Visual impairment OMIM:615431
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory in... OMIM:613845
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Myopia OMIM:617873
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation OMIM:605735
Mehmo Syndrome
Myopia, Inability to walk, Gait ataxia, Difficulty walking OMIM:300148
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Neonatal respiratory distress, Pulmonary arterial hypertension, Respir... ORPHA:209905
Laron Syndrome
Blue sclerae OMIM:262500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Weight loss, Tachycardia OMIM:613239
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Weight loss, Tachycardia OMIM:188580
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Leber Congenital Amaurosis 15
Myopia, Hypermetropia, Visual impairment, Constriction of peripheral visual field, Color vision d... OMIM:613843
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Epistaxis, Imp... OMIM:139090
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Blue sclerae OMIM:166230
Retinitis Pigmentosa 75
Myopia, Nyctalopia, Peripheral visual field loss, Mixed astigmatism OMIM:617023
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Mevalonic Aciduria
Ataxia, Blue sclerae ORPHA:29
Flynn-Aird Syndrome
Myopia, Ataxia OMIM:136300
Developmental And Epileptic Encephalopathy 66
Astigmatism, Hypermetropia, Myopia, Broad-based gait OMIM:618067
Tetanus
Hypertension, Dysphagia, Bradycardia, Tachycardia ORPHA:3299
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Ventricular tachycardia, Cardiomyopathy, Irritability, Arrhythmia, Hypotension ORPHA:159
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Flexion contracture of toe, Pulmonary arterial medial hypertrophy, Apn... OMIM:601559
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Gait disturbance, Blue sclerae ORPHA:2840
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmo... ORPHA:974
Van Bogaert-Hozay Syndrome
Myopia, Astigmatism OMIM:277150
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea OMIM:616482
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... ORPHA:210122
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Thrombocytopenia, Lethargy ORPHA:49827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
11Q22.2Q22.3 Microdeletion Syndrome
Myopia, Attention deficit hyperactivity disorder ORPHA:444002
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Neuroleptic Malignant Syndrome
Hypertension, Dysphagia, Thrombocytosis, Thrombocytopenia, Hypertensive crisis, Tachycardia, Brad... ORPHA:94093
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Tra... ORPHA:284227
Myotonic Dystrophy 2
Palpitations, Decreased circulating IgG level, Tachycardia, Decreased circulating total IgM OMIM:602668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Small for gestational age, Ventricular tachycardia... ORPHA:26793
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Progressive visual loss, Myopia, Dyschromatopsia OMIM:264420
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Atrial fibrillation, Polyphagia, Polydipsia, Palpitations, Failure to ... ORPHA:525731