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Gene: Adora2a MGI:99402

Gene Summary

Name:

adenosine A2a receptor

Synonyms:

A2AAR, ARA2A, A2a, Rs, A2aR, AA2AR

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Adora2a^em1(IMPC)H	HOM	Late adult	2.62×10^-08
increased freezing behavior	Adora2a^em1(IMPC)H	HOM	Late adult	1.76×10^-06
increased neutrophil cell number	Adora2a^em1(IMPC)H	HOM	Late adult	1.80×10^-07
increased circulating aspartate transaminase level	Adora2a^em1(IMPC)H	HOM	Late adult	4.81×10^-13
decreased lymphocyte cell number	Adora2a^em1(IMPC)H	HOM	Late adult	1.00×10^-05
decreased locomotor activity	Adora2a^em1(IMPC)H	HOM	Early adult	5.39×10^-05
decreased lean body mass	Adora2a^em1(IMPC)H	HOM	Early adult	5.56×10^-05
decreased lean body mass	Adora2a^em1(IMPC)H	HOM	Late adult	3.98×10^-08
decreased hemoglobin content	Adora2a^em1(IMPC)H	HOM	Late adult	2.18×10^-05
increased circulating glucose level	Adora2a^em1(IMPC)H	HOM	Early adult	6.33×10^-05
increased circulating alanine transaminase level	Adora2a^em1(IMPC)H	HOM	Late adult	2.00×10^-27

Download data as: TSV XLS

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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.

Human diseases associated with Adora2a (1 diseases)
Human diseases predicted to be associated with Adora2a (1557 diseases)

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	Matching phenotypes	Source
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper...	OMIM:265400
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent...	OMIM:106700
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch morphology, Dextrotransposition of t...	ORPHA:860
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Trimethylaminuria	Hypertension, Tachycardia, Depression	OMIM:602079
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona...	OMIM:612387
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Spastic ataxia, Myopia	OMIM:271320
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ...	OMIM:273800
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce...	OMIM:619267
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Myopia, Ataxia, Gait disturbance	ORPHA:2572
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment	OMIM:303700
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Coproporphyria, Hereditary	Hypertension, Tachycardia, Confusion, Depression	OMIM:121300
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Glaucoma, Primary Open Angle	Myopia	OMIM:137760
Myopia 18, Autosomal Recessive	Myopia	OMIM:255500
Myopia 9	Myopia	OMIM:609258
Myopia 10	Myopia	OMIM:609259
Myopia 7	Myopia	OMIM:609256
Myopia 8	Myopia	OMIM:609257
Myopia 15, Autosomal Dominant	Myopia	OMIM:612717
Myopia 1, X-Linked	Myopia	OMIM:310460
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pulmonary artery at...	ORPHA:99050
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cardio...	ORPHA:555874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona...	ORPHA:185
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Pulmonary fibrosis, Pulmonary arterial hypert...	ORPHA:220402
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Choroideremia	Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment	ORPHA:180
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension	OMIM:619003
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ...	ORPHA:849
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Glaucoma 1, Open Angle, A	Myopia	OMIM:137750
Polydactyly, Postaxial, With Progressive Myopia	Myopia	OMIM:174310
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat...	OMIM:173590
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate...	ORPHA:70588
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte...	OMIM:615343
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Ocular Pigment Dispersion With Or Without Glaucoma	Myopia	OMIM:600510
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cataract 12, Multiple Types	Myopia	OMIM:611597
Åland Islands Eye Disease	Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, Astigmatism, Color vision...	ORPHA:178333
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Achromatopsia	Myopia, Abnormality of refraction, Central scotoma, Monochromacy, Reduced visual acuity, Hypermet...	ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:304020
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Hy...	ORPHA:1457
Autosomal Recessive Spastic Paraplegia Type 45	Myopia, Spastic gait	ORPHA:320396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty...	ORPHA:98764
5Q35 Microduplication Syndrome	Myopia	ORPHA:228415
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula...	OMIM:601005
Cataract 42	Myopia	OMIM:115900
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp...	ORPHA:79264
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insu...	ORPHA:1166
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology	ORPHA:1208
Retinal Cone Dystrophy 3B	Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Astigmatism	OMIM:610356
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Sveinsson Chorioretinal Atrophy	Myopia, Astigmatism	OMIM:108985
Cone-Rod Dystrophy 24	Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio...	OMIM:620342
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron...	ORPHA:980
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C...	ORPHA:3077
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang...	ORPHA:2038
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri...	OMIM:615888
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Oguchi Disease	Myopia, Abnormality of refraction, Diplopia, Visual field defect, Congenital stationary night bli...	ORPHA:75382
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Congenital Stationary Night Blindness	Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund...	ORPHA:215
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop...	ORPHA:276556
Manganese Poisoning	Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi...	ORPHA:306682
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat...	OMIM:155100
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir...	ORPHA:98915
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a...	OMIM:614201
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema...	ORPHA:199241
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ...	ORPHA:3384
Achromatopsia 3	Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe...	OMIM:262300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Agitation, Increased body weight, Progressive neurologic deterioration	ORPHA:276608
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, R...	ORPHA:171445
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Diabetes Mellitus, Permanent Neonatal, 3	Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, Pulmonary arterial hyp...	OMIM:212350
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop...	ORPHA:276575
Huntington Disease	Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Ment...	ORPHA:399
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cone-Rod Dystrophy, X-Linked, 3	Myopia, Central scotoma, Reduced visual acuity, Photophobia, Astigmatism, Visual impairment, Colo...	OMIM:300476
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop...	ORPHA:276580
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Respirat...	ORPHA:90308
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Aland Island Eye Disease	Myopia, Severely reduced visual acuity, Astigmatism	OMIM:300600
Adams-Oliver Syndrome 5	Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Pulmonary arterial hypertension, ...	OMIM:616028
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Myo...	ORPHA:81
Retinal Capillary Malformation	Myopia, Blindness, Photopsia, Amblyopia, Vitreous floaters, Anisometropia, Reduced visual acuity,...	ORPHA:71213
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Large for gestational age, Syncope, Agitation, Palpitatio...	ORPHA:324575
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Spastic Paraplegia 45, Autosomal Recessive	Myopia, Spastic gait	OMIM:613162
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Myopia, Visual impairment	ORPHA:1574
Retinitis Pigmentosa 1	Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity	OMIM:180100
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto...	OMIM:312600
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Hyper...	OMIM:230800
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Myopia	OMIM:614199
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ...	ORPHA:449285
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Stiff-Person Syndrome	Hypertension, Exaggerated startle response, Tachycardia, Depression	OMIM:184850
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie...	OMIM:620233
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary arterial hypertension, ...	ORPHA:52047
Variegate Porphyria	Tachycardia	OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my...	OMIM:300029
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Myopia, Broad-based gait, Ataxia, Inability to walk	OMIM:616756
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Macular Dystrophy With Central Cone Involvement	Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, High myopia, Visual impairment	OMIM:616170
Polydactyly-Myopia Syndrome	Myopia	ORPHA:2917
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy	ORPHA:335
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Cone-Rod Dystrophy 20	Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri...	OMIM:615973
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Serotonin Syndrome	Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ...	ORPHA:43116
Parkinson Disease 17	Akinesia	OMIM:614203
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp...	ORPHA:240094
Chorioretinal Atrophy, Progressive Bifocal	Myopia, Visual impairment	OMIM:600790
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri...	OMIM:265380
Retinal Cone Dystrophy 3A	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Wagner Vitreoretinopathy	Visual loss, Myopia, Visual field defect	OMIM:143200
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve...	OMIM:612949
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th...	OMIM:607015
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Leukodystrophy, Hypomyelinating, 25	Blue sclerae, Gait ataxia	OMIM:620243
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension, Flexion contracture, Recurrent upper respiratory tract infection...	ORPHA:391372
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
16P11.2P12.2 Microduplication Syndrome	Myopia	ORPHA:261204
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation, Epistaxis	OMIM:609821
Perry Syndrome	Akinesia, Frontotemporal dementia, Depression, Weight loss, Inappropriate behavior, Disinhibition...	OMIM:168605
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis	OMIM:614009
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary fib...	ORPHA:220393
Leber Hereditary Optic Neuropathy	Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Raynaud phenomenon,...	ORPHA:206572
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Bornholm Eye Disease	Deuteranopia, Amblyopia, High myopia, Astigmatism, Protanopia	OMIM:300843
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure to thrive	ORPHA:2089
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Tachypnea, Hypertension, Atrial septal defect, Pu...	OMIM:613834
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Depression, Weight loss, Dementia, Agitation, Low frustration tolerance, S...	ORPHA:411602
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Retinal Dystrophy And Obesity	Myopia, Astigmatism, Reduced visual acuity, Visual impairment	OMIM:616188
Progressive Bifocal Chorioretinal Atrophy	Myopia, Visual impairment	ORPHA:75373
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra...	ORPHA:258
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm...	OMIM:608149
Acquired Methemoglobinemia	Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myopia, Inability to walk, Dysmetria, Gait ataxia, Visual impairment	OMIM:617810
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Respiratory insufficiency, Hypertension, Second degr...	OMIM:617021
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased p...	ORPHA:70591
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ...	ORPHA:363705
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel...	OMIM:607454
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Agitation	OMIM:613870
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality...	ORPHA:848
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit...	OMIM:304700
Mercury Poisoning	Tachycardia, Confusion, Anorexia, Hypertension, Hypotension	ORPHA:330021
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Hypertryptophanemia	Myopia, Visual impairment	OMIM:600627
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Moderately reduced visual acuity, Visual acuity light perception with projection, ...	ORPHA:2788
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Dysplastic aortic valve, Aortic ...	ORPHA:3093
Myopia 23, Autosomal Recessive	Reduced visual acuity, Visual impairment, High myopia	OMIM:615431
Sick Sinus Syndrome 2	Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Myopia 22, Autosomal Dominant	Reduced visual acuity, High myopia	OMIM:615420
Cone-Rod Dystrophy 18	Central scotoma, Reduced visual acuity, High myopia	OMIM:615374
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocarditis, Dyspnea, Splenome...	ORPHA:809
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia	OMIM:615058
Marchiafava-Bignami Disease	Ataxia, Confusion, Aggressive behavior, Depression, Gait ataxia, Dementia, Abnormal emotion, Gait...	ORPHA:221074
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormality of the p...	ORPHA:290
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm mo...	ORPHA:2257
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect	OMIM:613759
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn...	ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Tachycardia, Obesity	OMIM:619737
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral...	OMIM:620025
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea...	ORPHA:31826
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Familial Thrombocytosis	Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Syncope, Cerebral ischemia...	ORPHA:71493
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension, Tachypnea, Coarctation of aorta	OMIM:614857
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr...	OMIM:187800
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking, ...	ORPHA:485405
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Hereditary Central Diabetes Insipidus	Irritability, Polydipsia, Weight loss	ORPHA:30925
Ataxia-Pancytopenia Syndrome	Ataxia, Unsteady gait, Decreased circulating antibody level, Gait disturbance, Abnormal platelet ...	ORPHA:2585
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea...	OMIM:614921
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat...	OMIM:231200
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy...	OMIM:613404
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Stickler Syndrome, Type I, Nonsyndromic Ocular	Myopia	OMIM:609508
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla...	ORPHA:3309
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Myopia, Ataxia, Inability to walk, Hypermetropia, Astigmatism	OMIM:619556
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ...	ORPHA:1926
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup...	ORPHA:97214
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Blue sclerae	ORPHA:66633
Lamb-Shaffer Syndrome	Myopia	OMIM:616803
Tetanus	Hypertension, Tachycardia, Bradycardia, Dysphagia	ORPHA:3299
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hydroxykynureninuria	Tachycardia, Abnormal repetitive mannerisms, Hypotension	ORPHA:79155
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content...	OMIM:601399
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Cln3 Disease	Ataxia, Aggressive behavior, Mental deterioration, Depression, T-wave inversion, Dementia, Bradyc...	ORPHA:228346
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Bradycardia, Pulmonary arterial hypertension	OMIM:619272
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im...	ORPHA:247234
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Thrombocytopenia	ORPHA:49827
Neuroectodermal Melanolysosomal Disease	Myopia, Ataxia	ORPHA:33445
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:614432
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Intellectual Developmental Disorder, X-Linked 58	Myopia	OMIM:300210
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val...	OMIM:267010
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho...	ORPHA:1666
Methanol Poisoning	Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria...	ORPHA:31825
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Mevalonic Aciduria	Blue sclerae, Ataxia	ORPHA:29
Von Willebrand Disease, Type 3	Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop...	OMIM:277480
Mehmo Syndrome	Inability to walk, Myopia, Difficulty walking, Gait ataxia	OMIM:300148
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Tularemia	Tachycardia, Increased circulating antibody level, Confusion, Thrombocytopenia	ORPHA:3392
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Blue sclerae, Gait disturbance	ORPHA:2840
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Confusion, Heart block, Capillary leak, Reduced left ventricular ejection fraction, ...	ORPHA:542323
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram...	OMIM:208085
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss	OMIM:188580
Cone-Rod Dystrophy 19	Reduced visual acuity, High myopia	OMIM:615860
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Myopia, Ataxia	ORPHA:3363
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb...	OMIM:139090
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Myopia, Visual impairment	ORPHA:2786
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia	OMIM:229700
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Flynn-Aird Syndrome	Myopia, Ataxia	OMIM:136300
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis	OMIM:605735
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Central Diabetes Insipidus	Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive	ORPHA:178029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irritability	OMIM:618321
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Myopia, Astigmatism, Amblyopia	OMIM:620021
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Myopia, Ataxia, Dysmetria	OMIM:618688
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo...	OMIM:613177
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Dementia, Akinesia, Aggressive behavior	OMIM:300894
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in...	OMIM:613845
Laron Syndrome	Blue sclerae	OMIM:262500
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o...	OMIM:187900
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Dyschromatopsia, Progressive visual loss	OMIM:264420
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Irritability, Palpita...	ORPHA:525731
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Progressive neurologic deterioration, Large for gestational age, Increased body weig...	ORPHA:263455
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma...	ORPHA:100924
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ...	ORPHA:210122
Encephalopathy Due To Sulfite Oxidase Deficiency	Myopia, Ataxia	ORPHA:833
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Congenital Myopathy 9A	Akinesia	OMIM:618822
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Depression	OMIM:176000
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ...	ORPHA:974
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Respiratory failure, Facial paralysis, Respiratory insufficiency	OMIM:605711
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Van Bogaert-Hozay Syndrome	Myopia, Astigmatism	OMIM:277150
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Leukodystrophy, Hypomyelinating, 11	Myopia, Ataxia	OMIM:616494
Acute Zonal Occult Outer Retinopathy	Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Abnor...	ORPHA:284454
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis	ORPHA:1131
Congenital Arthrogryposis With Anterior Horn Cell Disease	Inability to walk, Myopia, Difficulty walking	OMIM:611890
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of...	ORPHA:284227
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Broad-based gait, Blue sclerae, Reduced visual acuity	OMIM:618707
Cataract-Microcornea Syndrome	Myopia	ORPHA:1377
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent foramen ovale, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Atrial septa...	ORPHA:280633
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait ataxia, Gait dis...	OMIM:616878
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Visual impairment, Nyctalopia	OMIM:258870
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Blue sclerae	OMIM:617051
Quebec Platelet Disorder	Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Acute Intermittent Porphyria	Restlessness, Tachycardia, Confusion, Depression, Hypertension, Pseudobulbar paralysis, Mental de...	ORPHA:79276
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s...	OMIM:193400
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Relapsing Fever	Tachycardia, Epistaxis, Prolonged prothrombin time, Hypotension, Thrombocytopenia	ORPHA:91547
Ophthalmoplegia, External, And Myopia	Myopia	OMIM:311000
Systemic Sclerosis	Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis...	ORPHA:90291
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere...	ORPHA:1830
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
White Forelock With Malformations	Myopia, Blue sclerae	ORPHA:2475
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Double outlet right ventricle, Single ventric...	OMIM:620294
Classic Progressive Supranuclear Palsy Syndrome	Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai...	ORPHA:240071
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Ataxia, Hypermetropia, Amblyopia	ORPHA:370022
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Myopia, Unsteady gait	OMIM:617435
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Blepharoptosis, Myopia, And Ectopia Lentis	Myopia	OMIM:110150
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Myopia, Unsteady gait, Hypermetropia	OMIM:618092
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy...	ORPHA:26793
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ...	OMIM:602668
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Abnormal myocardium morphology, Splenomegaly, Abnormal pulmon...	ORPHA:77259
Deafness, X-Linked 5, With Peripheral Neuropathy	Myopia, Unsteady gait	OMIM:300614
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Grant Syndrome	Blue sclerae	OMIM:138930
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Joint hemorr...	ORPHA:324636
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Irritability, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Stickler Syndrome, Type Vi	Moderate myopia, Astigmatism, High myopia	OMIM:620022
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Respiratory tract infection...	ORPHA:79128
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d...	ORPHA:2519
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance	OMIM:604484
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation, Epistaxis	OMIM:614076
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Dyspnea, Arteriosclerosis, Hypertension, Cerebral ischemia, Pulmonary ...	OMIM:242900
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopia	ORPHA:1369
Neuroleptic Malignant Syndrome	Tachycardia, Hypertensive crisis, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypot...	ORPHA:94093
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Myopia 17, Autosomal Dominant	High myopia	OMIM:608367
Usher Syndrome Type 2	Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia	OMIM:606693
Aplasia Cutis Congenita, High Myopia, And Cone-Rod Dysfunction	High myopia	OMIM:601075
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Myopia, Dysmetria, Gait ataxia, Difficulty walking, Visual impairment	ORPHA:529665
Myopia, High, With Cataract And Vitreoretinal Degeneration	Mildly reduced visual acuity, High myopia, Vitreous floaters	OMIM:614292
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de...	OMIM:616449
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg...	OMIM:614185
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Brittle Cornea Syndrome 2	Myopia, Blue sclerae, Gait disturbance	OMIM:614170
4H Leukodystrophy	Myopia, Ataxia, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	ORPHA:289494
Myopia 6	High myopia	OMIM:608908
Myopia 19, Autosomal Dominant	High myopia	OMIM:613969
Myopia 24, Autosomal Dominant	High myopia	OMIM:615946
Myopia 21, Autosomal Dominant	High myopia	OMIM:614167
Myopia 26, X-Linked, Female-Limited	High myopia	OMIM:301010
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contracture, Recurrent up...	OMIM:253200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia	OMIM:609286
Parietal Foramina 1	Blue sclerae	OMIM:168500
Retinitis Pigmentosa 75	Myopia, Nyctalopia, Peripheral visual field loss, Mixed astigmatism	OMIM:617023
Deafness And Myopia	High myopia	OMIM:221200
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Myopia	ORPHA:2743
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Myopia, Visual impairment	ORPHA:1067
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Orthostatic hypotension, Tachycardia, Hypertension	OMIM:223900
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Retinitis Pigmentosa 51	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment	OMIM:613464
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia, Failure to thriv...	OMIM:613327
Gaucher Disease Type 3	Recurrent respiratory infections, Hepatomegaly, Mitral valve calcification, Abnormal heart valve ...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Ataxia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thromboc...	OMIM:603585
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ...	ORPHA:414
Albinism, Oculocutaneous, Type Ii	Myopia, Reduced visual acuity, Visual impairment	OMIM:203200
Grubben-De Cock-Borghgraef Syndrome	Blue sclerae	ORPHA:2101
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Dyspnea, Flexion contracture, Right atrial enlargement, Right bundle bra...	OMIM:614008
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, S...	OMIM:612541
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg...	OMIM:602782
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Maternal Uniparental Disomy Of Chromosome 9	Myopia	ORPHA:96183
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Palpitations, Hypotension, ...	OMIM:263800
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Myopia, Ataxia, Unsteady gait, Difficulty walking	ORPHA:464282
Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness	High myopia	OMIM:226950
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Myopia, Astigmatism	OMIM:248000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Myopathic Ehlers-Danlos Syndrome	Myopia, Blue sclerae, Tip-toe gait	ORPHA:536516
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Myopia	ORPHA:126
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg...	OMIM:153670
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Stickler Syndrome Type 2	Myopia	ORPHA:90654
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h...	ORPHA:991
Postencephalitic Parkinsonism	Abnormal aggressive, impulsive or violent behavior, Dysphagia, Akinesia, Depression	ORPHA:97349
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Cognitive i...	ORPHA:309246
Congenital Muscular Dystrophy With Intellectual Disability	Loss of ambulation, Myopia	ORPHA:370968
Autosomal Recessive Stickler Syndrome	Myopia, Astigmatism, Amblyopia	ORPHA:250984
Hereditary Methemoglobinemia	Athetosis, Blue sclerae	ORPHA:621
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve...	ORPHA:99827
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Respir...	OMIM:254940
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Pulmonary arterial hypertension, Congenital contracture, Atrial septal defect	ORPHA:261279
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy...	ORPHA:308552
Brittle Cornea Syndrome 1	Visual loss, Myopia, Blue sclerae	OMIM:229200
Mgat2-Cdg	Failure to thrive, Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, De...	ORPHA:79329
Congenital Muscular Dystrophy, Fukuyama Type	Myopia, Gait disturbance, Visual impairment	ORPHA:272
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi...	OMIM:612946
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Folinic Acid-Responsive Seizures	Myopia, Broad-based gait, Ataxia, Difficulty walking	ORPHA:79097
Autoimmune Hypoparathyroidism	Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, V...	ORPHA:36913
Corticobasal Syndrome	Memory impairment, Dementia, Gait disturbance, Akinesia	ORPHA:454887
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Myopia, Hypermetropia	OMIM:619595
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary int...	OMIM:181000
Night Blindness, Congenital Stationary, Type 1B	Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness	OMIM:257270
Fg Syndrome Type 1	Progressive flexion contractures, Mitral valve prolapse, Coarctation of aorta, Atrial septal defe...	ORPHA:93932
11Q22.2Q22.3 Microdeletion Syndrome	Myopia	ORPHA:444002
Optic Atrophy 11	Myopia, Ataxia, Amblyopia, Gait apraxia, Dysmetria, Hypermetropia, Athetosis, Visual impairment	OMIM:617302
Cryptogenic Organizing Pneumonia	Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventilatory d...	ORPHA:2905
Cholera	Irritability, Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Intellectual Developmental Disorder, X-Linked 92	High myopia	OMIM:300851
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Myopia	ORPHA:300179
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Capillary leak, Intracranial hemorrhage, M...	ORPHA:340
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art...	OMIM:616482
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Mild myopia, Photophobia, Severely reduced visual acuity...	OMIM:300424
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia	ORPHA:139411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Myopia	OMIM:613151
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Scorpion Envenomation	Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv...	ORPHA:466677
Spastic Paraplegia 79B, Autosomal Recessive	Myopia, Ataxia, Visual loss, Reduced visual acuity, Dysmetria, Progressive visual loss, Loss of a...	OMIM:615491
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Stuve-Wiedemann Syndrome 1	Apnea, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Respiratory insufficienc...	OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Myopia	OMIM:613155
Bardet-Biedl Syndrome 21	Myopia, Blindness, Constriction of peripheral visual field	OMIM:617406
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Developmental And Epileptic Encephalopathy 66	Myopia, Broad-based gait, Astigmatism, Hypermetropia	OMIM:618067
Harel-Yoon Syndrome	Inability to walk, Myopia, Ataxia	OMIM:617183
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl...	OMIM:100300
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pul...	OMIM:601186
Myopia 3, Autosomal Dominant	High myopia	OMIM:603221
Myopia 2, Autosomal Dominant	High myopia	OMIM:160700
Myopia 5, Autosomal Dominant	High myopia	OMIM:608474
Myopia 25, Autosomal Dominant	High myopia	OMIM:617238
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Chromosome 16Q12 Duplication Syndrome	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly	OMIM:619649
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Inability to walk, High myopia, Athetosis, Blue sclerae	ORPHA:357058
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Blue sclerae	OMIM:259410
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Pontocerebellar Hypoplasia, Type 1F	Blue sclerae	OMIM:619304
Myopia 27, Autosomal Dominant	High myopia	OMIM:618827
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia	ORPHA:348
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Nyctalopia	ORPHA:1390
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Myopia	ORPHA:2325
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 28	Myopia, Gait ataxia	OMIM:618800
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C...	ORPHA:3426
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Xp22.3 Microdeletion Syndrome	Myopia	ORPHA:1643
X-Linked Intellectual Disability, Najm Type	Myopia, Gait disturbance, Visual impairment	ORPHA:163937
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Blue sclerae, Limb ataxia, Truncal ataxia	OMIM:617101
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Loss of ambulation, Myopia, Ataxia, Dysmetria	OMIM:607694
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia	OMIM:141000
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Cachexia, Myo...	ORPHA:3452
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,...	OMIM:210370
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Small for gestational age	OMIM:609152
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E...	OMIM:614075
Usher Syndrome	Myopia, Blindness, Ataxia, Nyctalopia, Visual field defect, Astigmatism, Progressive visual loss,...	ORPHA:886
Myopia 28, Autosomal Recessive	High myopia	OMIM:619781
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Ogden Syndrome	Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi...	OMIM:300855
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Scleromyxedema	Transient ischemic attack, Raynaud phenomenon, Abnormal lung morphology, Abnormal skeletal muscle...	ORPHA:167635
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated...	ORPHA:550
Graft Versus Host Disease	Irritability, Tachycardia, Failure to thrive	ORPHA:39812
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia	ORPHA:277
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Myopia	OMIM:203550
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Amblyopia, Cerebral visual impairment, Reduced visual acuity, Hypermetropia, Visual field...	ORPHA:401777
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension	OMIM:620029
Silver-Russell Syndrome 2	Blue sclerae	OMIM:618905
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Inability to walk, Myopia, Blue sclerae, Gait ataxia	OMIM:619383
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Double outlet right ventricle, Pulmo...	ORPHA:163956
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Visual loss, Myopia	ORPHA:77300
Leber Congenital Amaurosis 15	Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:613843
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Aceruloplasminemia	Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gait ataxia, Cognitive impairment, Memor...	ORPHA:48818
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Sjögren-Larsson Syndrome	Photophobia, Myopia	ORPHA:816
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Myopia	OMIM:132450
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni...	ORPHA:101096
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Blue sclerae	ORPHA:2324
Sinus Node Disease And Myopia	High myopia	OMIM:182190
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Confusion, Myocarditis, Capillary leak, Hypotension, Thrombocytopenia	ORPHA:36234
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Myopia, Ataxia, Dysmetria, Gait ataxia, High myopia, Dysdiadochokinesis	OMIM:614381
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ...	ORPHA:486
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten...	ORPHA:464738
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis	ORPHA:403
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Ataxia, Inability to walk, Visual loss, Reduced visual acuity, Astigmatism, Ga...	ORPHA:168491
Muscle-Eye-Brain Disease	Myopia, Gait disturbance, Visual impairment	ORPHA:588
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant...	OMIM:619374
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	High myopia	OMIM:301076
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia...	OMIM:617591
Osteogenesis Imperfecta, Type Xiv	Blue sclerae	OMIM:615066
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Ataxia, Hypertension, Gait disturbance	ORPHA:1764
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight, Thromboc...	ORPHA:90051
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Blue sclerae, Truncal ataxia, Gait ataxia	OMIM:616817
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Blue sclerae	ORPHA:457365
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Depression	OMIM:604928
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Flynn-Aird Syndrome	Myopia, Ataxia, Visual impairment	ORPHA:2047
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia	OMIM:616469
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Facial palsy, Atrial septal defect, Pulmonary arterial hyperten...	OMIM:620186
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ...	OMIM:610338
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb...	OMIM:234200
Microcoria, Congenital	Myopia	OMIM:156600
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Myopia, Amblyopia, Hypermetropia, Astigmatism, Visual impairment	ORPHA:284169
Periventricular Nodular Heterotopia 7	Myopia, Ataxia, Cerebral visual impairment	OMIM:617201
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Blue sclerae	ORPHA:157965
Developmental And Epileptic Encephalopathy 28	Blue sclerae	OMIM:616211
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Myopia, Myopic astigmatism, Reduced visual acuity, Hypermetropia, Astigmatism	OMIM:152950
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Pulmonary arter...	OMIM:618454
Stickler Syndrome Type 1	Visual loss, Myopia	ORPHA:90653
Hermansky-Pudlak Syndrome 8	Myopia, Myopic astigmatism, Moderate hypermetropia, Reduced visual acuity, Hypermetropia, High my...	OMIM:614077
Desanto-Shinawi Syndrome	Myopia, Astigmatism	OMIM:616708
Poretti-Boltshauser Syndrome	Myopia, Amblyopia	OMIM:615960
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation	OMIM:619172
Split-Hand/Foot Malformation 3	Myopia	OMIM:246560
Leukodystrophy, Hypomyelinating, 2	Choreoathetosis, Myopia, Ataxia	OMIM:608804
Pontocerebellar Hypoplasia, Type 8	Myopia, Cerebral visual impairment, Hypermetropia, Gait ataxia, Astigmatism	OMIM:614961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Inability to walk, Myopia	OMIM:613156
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Blue sclerae	ORPHA:2772
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Blue sclerae, Reduced visual acuity, Visual impairment	OMIM:177850
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Blue sclerae, Gait disturbance, Gait imbalance, Difficulty walking, Visual impairment	ORPHA:488627
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Intellectual Developmental Disorder, Autosomal Dominant 23	Myopia, Astigmatism	OMIM:615761
Cardiac Valvular Dysplasia 1	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Lef...	OMIM:212093
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Stickler Syndrome, Type Iv	Astigmatism, High myopia	OMIM:614134
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Supranuclear Palsy, Progressive, 2	Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia	OMIM:609454
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia	ORPHA:251274
Marshall-Smith Syndrome	Apnea, Ventricular septal defect, Dysplastic aortic valve, Recurrent upper respiratory tract infe...	OMIM:602535
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Intellectual Developmental Disorder, Autosomal Dominant 59	Myopia	OMIM:618522
Stiff Skin Syndrome	Myopia	OMIM:184900
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Confusion, Anorexia, Aggressive behavior, Hypovolemia, Capillar...	ORPHA:99826
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre...	ORPHA:401935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra...	ORPHA:391487
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Confusion, Obesity, Depression, Choreoathetosis, Irritability, Hypertensio...	ORPHA:79443
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Weight loss, Syncope, Hypotension, Abnormal mast cell morphology, Thrombocytopenia	ORPHA:98849
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopia, Difficulty walking, Truncal ataxia	ORPHA:369847
Grant Syndrome	Blue sclerae	ORPHA:2097
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Blue sclerae	ORPHA:231137
Night Blindness, Congenital Stationary, Type 1A	Hemeralopia, Congenital stationary night blindness, High myopia	OMIM:310500
Viss Syndrome	Epidural hemorrhage, Right ventricular dilatation, Atrial septal defect, Emphysema, Patent forame...	OMIM:619472
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Subvalvular aortic stenosis	ORPHA:65286
Ochoa Syndrome	Hypertension, Polydipsia	ORPHA:2704
Combined Oxidative Phosphorylation Deficiency 35	Myopia	OMIM:617873
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Blue sclerae	OMIM:612350
Pseudodiastrophic Dysplasia	Blue sclerae	OMIM:264180
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, ...	ORPHA:169160
15Q Overgrowth Syndrome	Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit...	ORPHA:314585
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Right aorti...	ORPHA:2326
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Osteogenesis Imperfecta, Type Ix	Blue sclerae	OMIM:259440
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalac...	OMIM:234100
Desbuquois Syndrome	Blue sclerae	ORPHA:1425
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Cranioectodermal Dysplasia	Myopia, High hypermetropia	ORPHA:1515
Charcot-Marie-Tooth Disease, Type 4D	Myopia, Unsteady gait, Gait disturbance	OMIM:601455
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Jaw claudication, Depression, Weight loss, Syncope, Bradycardia	ORPHA:221098
Multiple Epiphyseal Dysplasia, Beighton Type	Waddling gait, Myopia, Antalgic gait	ORPHA:166011
Osteogenesis Imperfecta, Type Xix	Blue sclerae	OMIM:301014
Osteogenesis Imperfecta, Type V	Blue sclerae	OMIM:610967
Jaberi-Elahi Syndrome	Myopia, Broad-based gait, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Visual impa...	OMIM:617988
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,...	ORPHA:3427
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular...	ORPHA:466791
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Myopia, Cerebral visual impairment, Amblyopia, Inability to walk, Unsteady gait, Hypermetropia, A...	OMIM:618493
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Respiratory insuff...	ORPHA:800
Porphyria Variegata	Hypertension, Tachycardia	ORPHA:79473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Myopia, Blindness	OMIM:615181
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Bardet-Biedl Syndrome 19	Myopia	OMIM:615996
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
X-Linked Recessive Ocular Albinism	Photophobia, Myopia, Astigmatism, Visual impairment	ORPHA:54
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Myopia	ORPHA:2196
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Primary Unilateral Adrenal Hyperplasia	Hypertension, Polydipsia, Palpitations, Epistaxis	ORPHA:231580
Albinism, Oculocutaneous, Type Ia	Myopia, Abnormality of refraction, Reduced visual acuity, Photophobia, Astigmatism, Visual impair...	OMIM:203100
Stickler Syndrome, Type Ii	Myopia	OMIM:604841
Osteogenesis Imperfecta, Type Xv	Blue sclerae	OMIM:615220
Peroxisomal Acyl-Coa Oxidase Deficiency	Myopia, Gait disturbance	ORPHA:2971
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Bidirectional shunt...	OMIM:619351
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio...	OMIM:619573
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Asthma, Abnormal heart morphology, Macroglos...	ORPHA:444077
Microphthalmia, Isolated, With Corectopia	Myopia	OMIM:156900
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Aortic valve...	ORPHA:740
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Photophobia, Myopia, Nyctalopia, Visual loss	ORPHA:5
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila...	ORPHA:98855
Lymphatic Malformation 13	Mitral regurgitation, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale...	OMIM:620244
Congenital Myopathy 20	Blue sclerae	OMIM:620310
Generalized Arterial Calcification Of Infancy	Respiratory distress, Ventricular hypertrophy, Medial calcification of large arteries, Transient ...	ORPHA:51608
Lysosomal Acid Lipase Deficiency	Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Hepatosplenomegaly, Hypotension,...	ORPHA:275761
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Acute respiratory distress syndrome, Portal hypertension, Wheezing, Respiratory insufficiency, Co...	OMIM:620005
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Akinesia, Dysphagia, Decreased body weight, Thrombocytopenia	OMIM:608013
Glycogen Storage Disease Ic	Hepatomegaly, Spider hemangioma, Recurrent upper respiratory tract infections, Hypertension, Pulm...	OMIM:232240
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h...	ORPHA:79282
Trigeminal Neuralgia	Allodynia, Depression	ORPHA:221091
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Myopia, Ataxia, Inability to walk, Dysmetria, Astigmatism	OMIM:619576
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Increased body...	ORPHA:2298
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Blue sclerae	ORPHA:391408
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila...	ORPHA:98853
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Supranuclear Palsy, Progressive, 1	Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia	OMIM:601104
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Chromosome 3Q13.31 Deletion Syndrome	Myopia	OMIM:615433
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Cornelia De Lange Syndrome 5	Myopia	OMIM:300882
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphr...	OMIM:312870
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Myopia, Spastic gait, Gait ataxia	ORPHA:496790
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Weight loss	ORPHA:71273
Frontoocular Syndrome	Myopia	OMIM:605321
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Imbalanced hemoglob...	ORPHA:330015
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Tremor-Ataxia-Central Hypomyelination Syndrome	Myopia, Ataxia, Dysmetria	ORPHA:447896
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Irritability, Polydipsia, Failure to thrive	OMIM:125800
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Hyperglycemia	OMIM:615954
Dpagt1-Cdg	Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, In...	ORPHA:86309
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Irritability, Polydipsia, Failure to thrive	OMIM:304800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Blue sclerae	OMIM:615539
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl...	ORPHA:274
Cardiofaciocutaneous Syndrome 2	Myopia	OMIM:615278
Phakomatosis Pigmentovascularis	Blue sclerae	ORPHA:2875
Spondylometaphyseal Dysplasia, Pagnamenta Type	Blue sclerae	OMIM:619638
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Myopic astigmatism, Myopia	OMIM:617802
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension, Recurrent respiratory infections	ORPHA:2282
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr...	OMIM:618316
Cystinosis	Portal hypertension, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms	ORPHA:213
Intellectual Developmental Disorder, Autosomal Recessive 65	Myopia, Unsteady gait, Astigmatism, Gait ataxia	OMIM:618109
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Blue sclerae	ORPHA:464288
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Myopia, Astigmatism, Hypermetropia, Cerebral visual impairment	OMIM:616875
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific...	ORPHA:2072
Laron Syndrome	Blue sclerae	ORPHA:633
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Blue sclerae	OMIM:619286
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Dementia, Akinesia	OMIM:616840
Aplasia Cutis-Myopia Syndrome	High myopia	ORPHA:1117
Staphylococcal Necrotizing Pneumonia	Shock, Addictive alcohol use, Confusion, Hypotension	ORPHA:36238
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal...	OMIM:612289
Hyperekplexia 2	Myopia, Astigmatism	OMIM:614619
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Myopia, Ataxia, Hypermetropia	ORPHA:369891
Congenital Ptosis	Myopia, Amblyopia, Abnormality of refraction, Anisometropia, Reduced visual acuity, Hypermetropia...	ORPHA:91411
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Atri...	ORPHA:98863
Ehlers-Danlos Syndrome, Classic Type, 1	Myopia, Blue sclerae	OMIM:130000
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Stickler Syndrome, Type V	High myopia	OMIM:614284
Plague	Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium	ORPHA:707
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Myopia	ORPHA:1259
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Ataxia, Dilated cardiomyopathy, Depression, Gait ataxia, Reduced left ventri...	ORPHA:254892
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Camptoda...	OMIM:143095
Acute Lung Injury	Shock, Addictive alcohol use, Diffuse alveolar hemorrhage	ORPHA:178320
Schaaf-Yang Syndrome	Inability to walk, Myopia	OMIM:615547
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia	OMIM:615812
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Ast...	OMIM:616777
Diastrophic Dysplasia	Blue sclerae	ORPHA:628
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Diastasis recti, Interphalangeal joint contracture of fi...	ORPHA:96334
Donnai-Barrow Syndrome	Myopia, Progressive visual loss	ORPHA:2143
Rere-Related Neurodevelopmental Syndrome	Myopia, Astigmatism, Anisometropia, Cerebral visual impairment	ORPHA:494344
Brittle Cornea Syndrome	Visual loss, Blue sclerae, Gait disturbance, High myopia	ORPHA:90354
Weill-Marchesani Syndrome	Visual loss, High myopia	ORPHA:3449
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Myopia, Astigmatism, Dystonic gait, Cerebral visual impairment	ORPHA:480898
Houge-Janssens Syndrome 1	Myopia, Gait ataxia	OMIM:616355
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Nyctalopia, High myopia	OMIM:617763
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Gastrocutaneous Syndrome	Myopia	OMIM:137270
Trichorhinophalangeal Syndrome, Type Ii	Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Myocardial infarction,...	OMIM:150230
Chromosome 6Pter-P24 Deletion Syndrome	Blue sclerae, Hypermetropia	OMIM:612582
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Postprandial hyp...	OMIM:246200
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Myopia	OMIM:615458
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Congenital Myopathy 12	Akinesia	OMIM:612540
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten...	OMIM:606721
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Astigmatism, Visual impairment, Bl...	ORPHA:566
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Blue sclerae	OMIM:619120
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Degcags Syndrome	Atrial septal defect, Tachycardia, Hepatomegaly, Ventricular septal defect, Pneumonia, Asthma, He...	OMIM:619488
Van Den Bosch Syndrome	High myopia	ORPHA:3417
Necrotizing Enterocolitis	Lethargy, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ...	ORPHA:2686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Myopia	OMIM:613153
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Myopia, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromatopsia	OMIM:614800
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Severe Early-Childhood-Onset Retinal Dystrophy	Myopia, Nyctalopia, Unsteady gait, Blurred vision, Reduced visual acuity, Peripheral visual field...	ORPHA:364055
Cohen Syndrome	Myopia, Nyctalopia, Reduced visual acuity, Visual impairment	OMIM:216550
Boudin-Mortier Syndrome	Myopia, Difficulty walking	OMIM:619543
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Myopia, Ataxia	OMIM:618430
Achondrogenesis Type 2	Myopia	ORPHA:93296
B4Galt1-Cdg	Myopia, High myopia	ORPHA:79332
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia, Anorexia, Decreased body weight	ORPHA:51890
Short Stature-Micrognathia Syndrome	Myopia, Astigmatism, Ataxia, Gait ataxia	OMIM:617164
Lattice Corneal Dystrophy Type I	Visual loss, High myopia, Photophobia, Slow decrease in visual acuity, Astigmatism	ORPHA:98964
Hyperaldosteronism, Familial, Type Iii	Hypertension, Polydipsia	OMIM:613677
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Icf Syndrome	Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Blau Syndrome	Pericarditis, Camptodactyly of finger, Facial palsy, Dyspnea, Splenomegaly, Large vessel vasculit...	ORPHA:90340
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Recurrent respiratory infections, Tricuspid valve prolapse, Mitr...	OMIM:309350
Juvenile Glaucoma	Central scotoma, Peripheral visual field loss, High myopia, Visual impairment, Glaucomatous visua...	ORPHA:98977
Mucolipidosis Iii Gamma	Myopia	OMIM:252605
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocyto...	OMIM:615934
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Difficulty walking	ORPHA:399180
Cataract 21, Multiple Types	High myopia	OMIM:610202
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal asphyxia, A...	ORPHA:141127
Ctcf-Related Neurodevelopmental Disorder	Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5th finger, Atrial septal de...	ORPHA:363611
Craniosynostosis 2	Myopia, Hypermetropia, Visual field defect	OMIM:604757
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Visual impairment	OMIM:300578
African Trypanosomiasis	Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,...	ORPHA:3385
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism...	OMIM:270100
Spondylo-Ocular Syndrome	Visual loss, Myopia	ORPHA:85194
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im...	OMIM:608233
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Pseudoxanthoma Elasticum	Myopia, Metamorphopsia, Blue sclerae, Visual impairment	ORPHA:758
Silver-Russell Syndrome 1	Blue sclerae	OMIM:180860
Acute Promyelocytic Leukemia	Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Addictive alcohol use, Thrombocyto...	ORPHA:520
Steinert Myotonic Dystrophy	Short attention span, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfu...	ORPHA:273
Weill-Marchesani Syndrome 3	High myopia	OMIM:614819
Chédiak-Higashi Syndrome	Ataxia, Epistaxis, Inability to walk, Increased proportion of CD25+ mast cells, Gait disturbance,...	ORPHA:167
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Myopia	ORPHA:3236
Bartter Syndrome, Type 2, Antenatal	Small for gestational age, Low-to-normal blood pressure, Polydipsia, Failure to thrive, Impaired ...	OMIM:241200
Apparent Mineralocorticoid Excess	Hypertension, Polydipsia, Failure to thrive	ORPHA:320
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Reduced visual acuity	OMIM:602499
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Myopia, Hypermetropia	OMIM:251750
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Myopia	ORPHA:1856
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci...	ORPHA:79474
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
East Syndrome	Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia	ORPHA:199343
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece...	ORPHA:276
Nephrogenic Diabetes Insipidus	Polydipsia, Failure to thrive, Hypovolemia, Anorexia	ORPHA:223
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Myopia	ORPHA:2634
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Schuurs-Hoeijmakers Syndrome	Myopia	OMIM:615009
Tetrasomy 9P	Myositis, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Raynaud phenomenon, A...	ORPHA:3310
Developmental And Speech Delay Due To Sox5 Deficiency	Myopia	ORPHA:313892
Lowry-Maclean Syndrome	Visual loss, Blue sclerae	ORPHA:2409
Renal Coloboma Syndrome	Myopia, Visual impairment	ORPHA:1475
Cutis Laxa, Autosomal Recessive, Type Iiia	Athetosis, Myopia	OMIM:219150
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	High hypermetropia, Ataxia, Visual impairment, High myopia	OMIM:619260
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Akinesia	OMIM:619147
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P...	OMIM:301056
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Blue sclerae	OMIM:620250
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Polydipsia	OMIM:612780
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal...	OMIM:602450
Angelman Syndrome	Myopia, Progressive gait ataxia, Ataxia, Broad-based gait	OMIM:105830
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc...	OMIM:612852
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Myopia, Blue sclerae, Hypermetropia, Impaired tandem gait	ORPHA:1900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	High myopia	OMIM:613157
Angelman Syndrome	Myopia, Broad-based gait, Ataxia, Amblyopia, Inability to walk, Hypermetropia, Astigmatism	ORPHA:72
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Nephronophthisis 1	Hypertension, Polydipsia	OMIM:256100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Myopia, Hemianopia, Hypermetropia	ORPHA:404440
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Myopia	OMIM:255800
Wiedemann-Steiner Syndrome	Broad-based gait, Blue sclerae	OMIM:605130
White-Sutton Syndrome	Waddling gait, Myopia, Mild myopia, Hypermetropia, Astigmatism, Visual impairment	OMIM:616364
Temtamy Preaxial Brachydactyly Syndrome	Blue sclerae	OMIM:605282
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly...	ORPHA:508542
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Blue sclerae	OMIM:619115
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Chromosome 9P Deletion Syndrome	Myopia, Blue sclerae	OMIM:158170
Cole Disease	Hyperglycemia	OMIM:615522
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Dentinogenesis Imperfecta	Blue sclerae	ORPHA:49042
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Double outlet right ventricle, Coarctation of aort...	OMIM:618164
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal lung morphology, Renovascular hypertension...	ORPHA:97685
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Myopia	ORPHA:2180
Lymphedema-Distichiasis Syndrome	Arrhythmia, Abnormality of the pulmonary vasculature	ORPHA:33001
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Myopia, Blue sclerae	OMIM:225410
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Recurrent lower respiratory tract infections, Budd-Chiari syndrome, Pulmonary embolism	OMIM:226300
Sitosterolemia 1	Giant platelets, Impaired platelet aggregation, Thrombocytopenia	OMIM:210250
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Renal Hypoplasia	Hypertension, Polydipsia, Small for gestational age	ORPHA:93101
Brachycephaly, Trichomegaly, And Developmental Delay	Blue sclerae	OMIM:617412
Alpha-Mannosidosis, Adult Form	Myopia, Ataxia	ORPHA:309288
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Chromosome 16P13.3 Deletion Syndrome, Proximal	Myopia	OMIM:610543
Smith-Magenis Syndrome	Myopia, Gait disturbance	ORPHA:819
Congenital Muscular Dystrophy With Cerebellar Involvement	Myopia, Blindness	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 1	Myopia, Ataxia, Hypermetropia, Astigmatism, Visual impairment	OMIM:156200
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Cognitive impairment	OMIM:615994
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hypoplastic sple...	OMIM:617053
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Diplopia, Limb ataxia, High myopia, Truncal ataxia, Visual impairment	OMIM:105210
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Myopia, Ataxia	ORPHA:562528
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Myopia, Hypermetropia	ORPHA:404473
Desbuquois Dysplasia 1	Waddling gait, Myopia	OMIM:251450
Osteogenesis Imperfecta, Type Ii	Blue sclerae	OMIM:166210
Hypophosphatasia, Infantile	Blue sclerae	OMIM:241500
Joint Laxity, Short Stature, And Myopia	High myopia	OMIM:617662
Musculocontractural Ehlers-Danlos Syndrome	Myopia, Blue sclerae, Astigmatism	ORPHA:2953
Saul-Wilson Syndrome	Nyctalopia, Blue sclerae	OMIM:618150
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Myopia	ORPHA:163649
Cri-Du-Chat Syndrome	Myopia, Difficulty walking	OMIM:123450
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Ataxia, Cerebral visual impairment, Inability to walk, Blue sclerae, Gait imbalance	ORPHA:488642
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Temtamy Syndrome	Myopia	OMIM:218340
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Hyperglycemia, Diabetes mellitus, Weight loss	ORPHA:465508
Mevalonic Aciduria	Progressive cerebellar ataxia, Blue sclerae, Ataxia	OMIM:610377
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola...	OMIM:175050
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Myopia	ORPHA:1970
De Barsy Syndrome	Athetosis, Blue sclerae, Progressive cerebellar ataxia, High myopia	ORPHA:2962
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Myopia, Ataxia, Inability to walk, Athetosis, Difficulty walking, Truncal ataxia	OMIM:615356
Noonan Syndrome 6	Myopia	OMIM:613224
Megalocornea-Intellectual Disability Syndrome	Myopia, Astigmatism, Ataxia	ORPHA:2479
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Myopia	ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Myopia	OMIM:184250
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Myopia, Ataxia	ORPHA:411543
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Cataract 6, Multiple Types	Myopia	OMIM:116600
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Myopia, Broad-based gait, Ataxia	ORPHA:438216
Fountain Syndrome	Myopia, Visual impairment	ORPHA:3219
Arthrogryposis Multiplex Congenita 5	Cardiac arrest, Akinesia	OMIM:618947
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Myopia, Shuffling gait, Hypermetropia	OMIM:300534
Aminopterin/Methotrexate Embryofetopathy	Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	ORPHA:1908
Cutis Laxa, Autosomal Recessive, Type Iib	Blue sclerae	OMIM:612940
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Exudative Vitreoretinopathy 6	Myopia, Reduced visual acuity, Progressive visual loss	OMIM:616468
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Cardiofaciocutaneous Syndrome 4	Myopia	OMIM:615280
Kniest Dysplasia	Myopia, Gait disturbance	OMIM:156550
Osteogenesis Imperfecta, Type Xiii	Blue sclerae	OMIM:614856
Emanuel Syndrome	Myopia, Astigmatism, Hypermetropia	ORPHA:96170
Nizon-Isidor Syndrome	Myopia, Hypermetropia	OMIM:618872
Marshall-Smith Syndrome	Blue sclerae	ORPHA:561
Cole-Carpenter Syndrome 2	Blue sclerae	OMIM:616294
Focal Dermal Hypoplasia	Telangiectasia of the skin, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic he...	ORPHA:2092
Corpus Callosum Agenesis-Neuronopathy Syndrome	Myopia	ORPHA:1496
Cutis Laxa, Autosomal Recessive, Type Iiib	Athetosis, Blue sclerae	OMIM:614438
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Ataxia, Weight loss	ORPHA:134
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Myopia, Visual impairment	OMIM:236200
Mesomelia-Synostoses Syndrome	Myopia	ORPHA:2496
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Gastrocutaneous Syndrome	Myopia	ORPHA:2069
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Pulmonary embolism	ORPHA:567548
Distal Deletion 10Q	Myopia, Unsteady gait, Ataxia, Astigmatism	ORPHA:96148
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Flexion contracture, Depression, Self-injurious behavior, Anemia	ORPHA:847
Pycnodysostosis	Abnormality of refraction, Blue sclerae	ORPHA:763
Emanuel Syndrome	Myopia, Astigmatism	OMIM:609029
Senior-Boichis Syndrome	Portal hypertension, Aggressive behavior, Hypertension, Agitation, Attention deficit hyperactivit...	ORPHA:84081
Marfanoid Habitus With Situs Inversus	Myopia	OMIM:609008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Myopia	OMIM:619074
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Myopia	ORPHA:3218
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Fanconi Anemia, Complementation Group I	Myopia, Astigmatism	OMIM:609053
Paganini-Miozzo Syndrome	High myopia	OMIM:301025
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Myopia	ORPHA:73272
Neuhauser Syndrome	Myopia, Ataxia	OMIM:249310
Osteogenesis Imperfecta, Type Xviii	Blue sclerae	OMIM:617952
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Hepatomegaly	ORPHA:2785
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A...	OMIM:300963
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Blue sclerae, Hypermetropia, Amblyopia	OMIM:245600
Vertebral Hypersegmentation And Orofacial Anomalies	Blue sclerae	OMIM:619122
Char Syndrome	Myopia	ORPHA:46627
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Myopia, Blue sclerae	OMIM:614557
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Myopia	OMIM:614376
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Myopia, Visual field defect	ORPHA:293967
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Myopia	OMIM:618914
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Photophobia, Myopia	OMIM:242150
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Osteogenesis Imperfecta, Type Xi	Blue sclerae	OMIM:610968
Bardet-Biedl Syndrome 1	Myopia, Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Astigmatism, Gai...	OMIM:209900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Myopia	ORPHA:3068
Beaulieu-Boycott-Innes Syndrome	Myopia	OMIM:613680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Photophobia, High myopia	OMIM:614457
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt...	ORPHA:3260
19P13.12 Microdeletion Syndrome	Myopia	ORPHA:254346
Temtamy Preaxial Brachydactyly Syndrome	Blue sclerae	ORPHA:363417
Opsismodysplasia	Blue sclerae	ORPHA:2746
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ...	OMIM:620066
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Gitelman Syndrome	Prolonged QT interval, Salt craving, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, S...	ORPHA:358
Retinitis Pigmentosa And Erythrocytic Microcytosis	Myopia, Nyctalopia, Ring scotoma	OMIM:616959
Oculodentodigital Dysplasia	Myopia, Ataxia, Abnormality of vision, Gait disturbance, High hypermetropia, Visual impairment	ORPHA:2710
Pauci-Immune Glomerulonephritis	Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vasculitis, Pul...	ORPHA:93126
Goldberg-Shprintzen Syndrome	Blue sclerae, Hypermetropia	OMIM:609460
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Hypertension, Pulmona...	OMIM:245150
Wolfram Syndrome	Gastrointestinal hemorrhage, Ataxia, Cardiomyopathy, Dementia, Polydipsia	ORPHA:3463
Kury-Isidor Syndrome	Astigmatism, High myopia	OMIM:619762
White-Sutton Syndrome	Myopia, Blindness, Hypermetropia, Astigmatism, Visual impairment	ORPHA:468678
Stickler Syndrome, Type I	Myopia, Blindness	OMIM:108300
Cartilage-Hair Hypoplasia	Myopia, Blue sclerae, Visual impairment, High hypermetropia	ORPHA:175
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm...	OMIM:192430
Down Syndrome	Myopia, Gait disturbance	ORPHA:870
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormality of vision, Athetosis, Myopia, Ataxia	ORPHA:2719
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Hepatomegaly, Pulmonary embolism	OMIM:185000
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss, Dysphagia, Polydipsia, Thrombocyt...	ORPHA:537
16Q24.3 Microdeletion Syndrome	Myopia, Astigmatism, Visual impairment	ORPHA:261250
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Myopia	ORPHA:85321
Distal Limb Deficiencies-Micrognathia Syndrome	Myopia	ORPHA:1307
Silver-Russell Syndrome	Blue sclerae	ORPHA:813
Oligomeganephronia	Hypertension, Polydipsia, Small for gestational age	ORPHA:2260
Osteogenesis Imperfecta, Type Xvi	Blue sclerae	OMIM:616229
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Isolated Osteopoikilosis	Addictive alcohol use	ORPHA:166119
Exudative Vitreoretinopathy 2, X-Linked	Reduced visual acuity, High myopia	OMIM:305390
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Weight loss, Dementia, Dysphagia, Slender build, Allodynia	OMIM:603041
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio...	ORPHA:1692
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Astigmatism, Reduced visual acuity	OMIM:618727
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion	ORPHA:567546
Cole-Carpenter Syndrome	Blue sclerae	ORPHA:2050
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Cog1-Cdg	Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly	ORPHA:263508
Otospondylomegaepiphyseal Dysplasia	Mild myopia, Hypermetropia, High myopia	ORPHA:1427
Marshall Syndrome	Myopia, Visual impairment, Amblyopia	ORPHA:560
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria, Hyperglycemia, Fai...	ORPHA:99885
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Umbilical hern...	OMIM:301040
Ataxia-Telangiectasia	Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leuk...	OMIM:208900
Acrocraniofacial Dysostosis	Myopia	ORPHA:949
Oculocerebrofacial Syndrome, Kaufman Type	Myopia	ORPHA:2707
Ehlers-Danlos Syndrome, Periodontal Type, 1	Blue sclerae	OMIM:130080
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Obesity	ORPHA:1772
Cutis Laxa, Autosomal Recessive, Type Iia	Myopia	OMIM:219200
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Desbuquois Dysplasia 2	Blue sclerae	OMIM:615777
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Myopia, Gait disturbance	ORPHA:500055
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Osteogenesis Imperfecta, Type Xx	Blue sclerae	OMIM:618644
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:613355
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Myopia, Amblyopia, Hypermetropia, Abnormality of vision, Astigmatism, Gait disturbance	ORPHA:464311
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Blue sclerae	OMIM:615560
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Gapo Syndrome	Myopia, Visual impairment	ORPHA:2067
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,...	ORPHA:117
Combined Oxidative Phosphorylation Deficiency 55	Blue sclerae	OMIM:619743
Pitt-Hopkins Syndrome	Myopia, Astigmatism, Gait ataxia	OMIM:610954
Peters Plus Syndrome	Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology,...	ORPHA:709
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, High myopia	OMIM:220500
Noonan Syndrome	Arrhythmia, Abnormal platelet function	ORPHA:648
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Blue sclerae	OMIM:615349
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Myopia	OMIM:183900
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Ectopia Lentis Et Pupillae	High myopia	OMIM:225200
Kabuki Syndrome 2	Blue sclerae	OMIM:300867
Erdheim-Chester Disease	Congestive heart failure, Polydipsia, Ataxia, Weight loss	ORPHA:35687
Cardiac-Valvular Ehlers-Danlos Syndrome	Myopia, Myopic astigmatism	ORPHA:230851
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Myopia, Astigmatism, Hypermetropia	OMIM:300968
49,Xxxxy Syndrome	Myopia	ORPHA:96264
48,Xxxy Syndrome	Recurrent respiratory infections, Asthma, Pulmonary embolism	ORPHA:96263
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Myopia, Blue sclerae	ORPHA:536467
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale	OMIM:620113
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Myopia, Ataxia, Gait imbalance, Gait disturbance	OMIM:300966
Microphthalmia With Brain And Digit Anomalies	Myopia	ORPHA:139471
Teratoma, Pineal	Polydipsia	OMIM:273120
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in...	ORPHA:353281
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Myopia, Blindness, Blue sclerae	OMIM:225400
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, High myopia, Hypermetropia, Gait ataxia	OMIM:300998
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	High myopia	OMIM:620070
Intellectual Developmental Disorder, Autosomal Dominant 29	Myopia, Visual impairment, Astigmatism, Hypermetropia	OMIM:616078
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Myopia	ORPHA:1005
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:609069
Dyrk1A-Related Intellectual Disability Syndrome	Myopia, Amblyopia, Hypermetropia, Astigmatism, Gait disturbance, Visual impairment	ORPHA:464306
Osteogenesis Imperfecta, Type Iv	Blue sclerae	OMIM:166220
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Myopia	ORPHA:94068
Alport Syndrome 2, Autosomal Recessive	Myopia	OMIM:203780
Spondylodysplastic Ehlers-Danlos Syndrome	Myopia, Blue sclerae, High hypermetropia	ORPHA:536471
Phosphoribosylpyrophosphate Synthetase Superactivity	Myopia, Ataxia, Hypermetropia	OMIM:300661
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Cardiofaciocutaneous Syndrome 1	Myopia, Progressive visual loss, Cerebral visual impairment	OMIM:115150
8P Inverted Duplication/Deletion Syndrome	Blue sclerae	ORPHA:96092
Hermansky-Pudlak Syndrome	Myopia, Amblyopia, Photophobia, Astigmatism, Visual impairment	ORPHA:79430
Bohring-Opitz Syndrome	Myopia	OMIM:605039
Contractural Arachnodactyly, Congenital	Myopia	OMIM:121050
Alkaptonuria	Abnormality of vision, Blue sclerae	ORPHA:56
Rin2 Syndrome	High myopia	ORPHA:217335
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Ataxia, Nyctalopia, Gait disturbance,...	ORPHA:581
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	High myopia	ORPHA:440354
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery a...	OMIM:614437
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Camptodactyly, Pulmo...	OMIM:616894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Myopia, Hypermetropia	OMIM:253800
Kyphoscoliotic Ehlers-Danlos Syndrome	Myopia, Blue sclerae, Difficulty walking	ORPHA:536545
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Myopia, Astigmatism, Hypermetropia, Cerebral visual impairment	ORPHA:369837
Magel2-Related Prader-Willi-Like Syndrome	Lethargy, Myopia	ORPHA:398069
Panhypophysitis	Orthostatic hypotension, Polydipsia	ORPHA:95513
Monosomy 18Q	Choreoathetosis, Myopia	ORPHA:1600
Spondylometaphyseal Dysplasia, Schmidt Type	Myopia	ORPHA:93316
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Lymphopenia, Anemia	ORPHA:935
Trisomy 8P	Blue sclerae, Astigmatism, Hypermetropia	ORPHA:264450
Septo-Optic Dysplasia Spectrum	Polydipsia, Obesity	ORPHA:3157
Cowden Syndrome 5	Myopia	OMIM:615108
Trichothiodystrophy	Photophobia, Myopia, Astigmatism, Gait ataxia	ORPHA:33364
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypermetropia, High myopia	OMIM:619103
Osteogenesis Imperfecta, Type X	Blue sclerae	OMIM:613848
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation...	OMIM:154700
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Acromelic Frontonasal Dysplasia	Myopia	ORPHA:1827
Osteootohepatoenteric Syndrome	Blue sclerae	OMIM:619377
Xylt1-Cdg	Myopia	ORPHA:370930
Neonatal Marfan Syndrome	Blue sclerae, High myopia	ORPHA:284979
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Moderate myopia, Amblyopia	OMIM:619758
Legius Syndrome	Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Pulmoni...	ORPHA:137605
Cowden Syndrome 6	Myopia	OMIM:615109
Pyruvate Carboxylase Deficiency	Hypoglycemia, Ataxia, Tip-toe gait, Hyperglycemia, Failure to thrive	ORPHA:3008
Osteogenesis Imperfecta, Type I	Blue sclerae	OMIM:166200
Pitt-Hopkins Syndrome	Myopia, Astigmatism, Ataxia, Gait ataxia	ORPHA:2896
Oculodentodigital Dysplasia, Autosomal Recessive	Myopia	OMIM:257850
Intellectual Developmental Disorder, Autosomal Dominant 57	Myopia, Tip-toe gait	OMIM:618050
Dend Syndrome	Hyperglycemia	ORPHA:79134
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Myopia, Astigmatism	OMIM:248190
1P21.3 Microdeletion Syndrome	Abnormality of vision, Myopia, Astigmatism	ORPHA:293948
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis,...	OMIM:614609
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Myopia	OMIM:612394
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	OMIM:600460
Loeys-Dietz Syndrome 5	Blue sclerae	OMIM:615582
Hypomagnesemia 3, Renal	Myopia, Astigmatism, Hypermetropia	OMIM:248250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Myopia, Hypermetropia	OMIM:613150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Obesity, Depression, Self-injurious behavior, Compulsive behaviors, Impaired...	ORPHA:293987
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Alpha-Mannosidosis, Infantile Form	Myopia, Astigmatism, Ataxia, Hypermetropia	ORPHA:309282
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Arterial Tortuosity Syndrome	Myopia, Astigmatism	OMIM:208050
Cardiofaciocutaneous Syndrome	Abnormality of vision, Myopia	ORPHA:1340
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Visual loss, Myopia	ORPHA:397715
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Cowden Syndrome 1	Myopia	OMIM:158350
Prader-Willi Syndrome Due To Translocation	Myopia, Hypermetropia, Cerebral visual impairment	ORPHA:177907
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympho...	ORPHA:1572
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Myopia, Astigmatism	ORPHA:1675
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Blue sclerae	ORPHA:1236
Prader-Willi Syndrome	Myopia, Hypermetropia	OMIM:176270
Proteus-Like Syndrome	Myopia	ORPHA:2969
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Blue sclerae, Hypermetropia	OMIM:130070
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Abnormality of vision, Myopia, Astigmatism, Cerebral visual impairment	ORPHA:466943
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	High myopia	OMIM:619685
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H...	ORPHA:91347
Cohen Syndrome	Myopia	ORPHA:193
Arima Syndrome	Hypertension, Polydipsia, Ataxia	OMIM:243910
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Blue sclerae	OMIM:616539
Kaufman Oculocerebrofacial Syndrome	Myopia, Astigmatism	OMIM:244450
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Tachycardia	OMIM:618280
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Fasting hypoglycemia, Glycosuria	OMIM:227810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Myopia, Blue sclerae	OMIM:271640
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f...	ORPHA:558
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial...	OMIM:216340
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr...	ORPHA:261537
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Myopia	OMIM:610759
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Blue sclerae	OMIM:616728
Donnai-Barrow Syndrome	Progressive visual loss, High myopia	OMIM:222448
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Ataxia, Mild myopia, Cerebral visual impairment	ORPHA:412069
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv...	ORPHA:261552
Knobloch Syndrome	Visual loss, Myopia, Progressive visual loss	ORPHA:1571
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Myopia, Astigmatism, Difficulty walking	OMIM:619482
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Myopia, Blue sclerae, Astigmatism	OMIM:601776
Hyperparathyroidism, Neonatal Severe	Polydipsia, Failure to thrive	OMIM:239200
Cataract 16, Multiple Types	High myopia	OMIM:613763
Nephronophthisis 4	Polydipsia	OMIM:606966
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Myopia, Myopic astigmatism, Amblyopia	OMIM:301066
Marshall Syndrome	Myopia	OMIM:154780
Shprintzen-Goldberg Craniosynostosis Syndrome	Myopia	OMIM:182212
Parathyroid Carcinoma	Shortened QT interval, Polydipsia, Weight loss, Dysphagia	ORPHA:143
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myopia, Astigmatism, Hypermetropia	OMIM:607721
Tarp Syndrome	Myopia, Broad-based gait	ORPHA:2886
Classical-Like Ehlers-Danlos Syndrome Type 2	Myopia, Astigmatism	ORPHA:536532
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Cognitive impairment, Polydipsia,...	ORPHA:731
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision	ORPHA:2526
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Myopia, Visual impairment, Difficulty walking	OMIM:618748
Osteogenesis Imperfecta	Ataxia, Blue sclerae, Gait disturbance, Loss of ambulation, Visual impairment	ORPHA:666
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Myopia, Ataxia	OMIM:609136
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Precocious atherosclerosis, Pulmonary embolism	ORPHA:444490
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Myopia, Broad-based gait, Ataxia, Hypermetropia, Astigmatism, Gait disturbance	ORPHA:268261
Autosomal Recessive Robinow Syndrome	Blue sclerae	ORPHA:1507
Spondylometaphyseal Dysplasia, Algerian Type	Myopia	OMIM:184253
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Ataxia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive	OMIM:124000
Weill-Marchesani Syndrome 4	High myopia	OMIM:613195
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology	ORPHA:268943
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	High myopia	ORPHA:370997
Infantile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Cognitive impairment	ORPHA:411629
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inability to walk, Myopia, Hypermetropia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inability to walk, Myopia, Hypermetropia	ORPHA:352665
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Myopia	ORPHA:521445
Macs Syndrome	High myopia	OMIM:613075
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in...	ORPHA:353277
Cornelia De Lange Syndrome 1	Myopia, Astigmatism	OMIM:122470
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced visual acuity, High myopia	OMIM:616914
20Q11.2 Microduplication Syndrome	High myopia	ORPHA:363659
Arterial Tortuosity Syndrome	Myopia	ORPHA:3342
Arboleda-Tham Syndrome	Myopia, Amblyopia, Cerebral visual impairment, Astigmatism, Gait imbalance	OMIM:616268
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia	ORPHA:440713
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Myopia, Broad-based gait, Amblyopia, Hypermetropia, Gait ataxia	ORPHA:513456
Alström Syndrome	Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, ...	ORPHA:64
Martin-Probst Syndrome	Myopia	OMIM:300519
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Myopia, Hypermetropia, Amblyopia	ORPHA:508498
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Myopia	ORPHA:86818
Nephronophthisis 3	Polydipsia	OMIM:604387
Apert Syndrome	Myopia	OMIM:101200
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Myopia, Visual impairment	ORPHA:93315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Myopia, Blindness	OMIM:236670
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Polydipsia, Dysphagia	ORPHA:99880
Shprintzen-Goldberg Syndrome	Myopia	ORPHA:2462
Dubowitz Syndrome	Myopia	ORPHA:235
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Hypovolemia	ORPHA:411634
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia	ORPHA:2203
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Myopia, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Astigmatism	OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, High myopia	OMIM:309583
Dehydrated Hereditary Stomatocytosis	Splenomegaly, Pulmonary venous hypertension	ORPHA:3202
Alport Syndrome 1, X-Linked	Myopia	OMIM:301050
Nephronophthisis 11	Polydipsia	OMIM:613550
Frontometaphyseal Dysplasia 2	Blue sclerae	OMIM:617137
Deeah Syndrome	Myopia, Hypermetropia	OMIM:619004
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Myopia, Cerebral visual impairment, Hypermetropia, Blue sclerae, Progressive visual loss	ORPHA:500150
Kabuki Syndrome	Blue sclerae	ORPHA:2322
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:273395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Myopia	ORPHA:1018
Acromelic Frontonasal Dysostosis	Myopia	OMIM:603671
Alport Syndrome 3A, Autosomal Dominant	Myopia	OMIM:104200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Moderate myopia, Reduced visual acuity, Visual impairment, High myopia	OMIM:601552
Hallermann-Streiff Syndrome	Myopia, Visual impairment	ORPHA:2108
Kniest Dysplasia	High myopia	ORPHA:485
Porphyria Cutanea Tarda	Addictive alcohol use	ORPHA:101330
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis...	ORPHA:2968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	High myopia	OMIM:616538
Papillorenal Syndrome	Reduced visual acuity, High myopia	OMIM:120330
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Moderate myopia	ORPHA:555877
Autosomal Dominant Robinow Syndrome	Blue sclerae	ORPHA:3107
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Hypermetropia, Blue sclerae, Falls, Tip-toe gait	OMIM:619503
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Blue sclerae	ORPHA:477993
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Myopia, Amblyopia, Reduced visual acuity, Hypermetropia, Visual field defect, Astigmatism, Blurre...	OMIM:175780
Autosomal Recessive Cutis Laxa Type 2, Classic Type	High myopia	ORPHA:357074
Wiedemann-Rautenstrauch Syndrome	Myopia, Ataxia, Hypermetropia, Blue sclerae, Truncal ataxia	ORPHA:3455
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Myopia	ORPHA:1101
Roberts Syndrome	Blue sclerae	ORPHA:3103
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Dec...	ORPHA:508
Meier-Gorlin Syndrome 7	Myopia	OMIM:617063
Short Stature With Microcephaly And Distinctive Facies	High myopia	OMIM:615789
Coffin-Siris Syndrome	Myopia, Visual impairment	ORPHA:1465
Helix Syndrome	Polydipsia	OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Ataxia, Dysmetria, Truncal ataxia, Hyperglycemia, Failur...	OMIM:220111
Neurofibromatosis Type 1	Abnormality of vision, Myopia, Ataxia, Visual impairment	ORPHA:636
Spondyloperipheral Dysplasia	High myopia	OMIM:271700
Cystinosis, Nephropathic	Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, We...	OMIM:219800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Moderate myopia, Ataxia, Mild myopia, Hypermetropia, Tip-toe gait	OMIM:619950
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Myopia	ORPHA:140952
Proximal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Hypovolemia	ORPHA:47159
Hajdu-Cheney Syndrome	Myopia	ORPHA:955
Hamamy Syndrome	High myopia	OMIM:611174
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Unsteady gait, High myopia	ORPHA:3063
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Myopia, Hypermetropia	OMIM:309590
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Ablepharon Macrostomia Syndrome	Myopia, Visual impairment	ORPHA:920
Fibromuscular Dysplasia, Multifocal	Blue sclerae	OMIM:619329
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Cowden Syndrome	Myopia, Ataxia	ORPHA:201
Wiedemann-Rautenstrauch Syndrome	Blue sclerae, Truncal ataxia	OMIM:264090
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inability to walk, Myopia, Ataxia	ORPHA:459070
17Q24.2 Microdeletion Syndrome	Myopia	ORPHA:529962
Weill-Marchesani Syndrome 2	Blindness, Astigmatism, High myopia	OMIM:608328
Hunter-Macdonald Syndrome	Myopia	OMIM:611962
Cranioectodermal Dysplasia 1	Myopia	OMIM:218330
Cohen-Gibson Syndrome	Myopia, Gait disturbance	OMIM:617561
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive	ORPHA:18
Stickler Syndrome	Myopia, Blindness, Astigmatism, Visual impairment	ORPHA:828
Shwachman-Diamond Syndrome 2	High myopia	OMIM:617941
Bohring-Opitz Syndrome	Inability to walk, High myopia	ORPHA:97297
Heart Defects, Congenital, And Other Congenital Anomalies	Diabetes mellitus, Hyperglycemia, Failure to thrive, Glycosuria	OMIM:600001
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Obesity, Weight loss	ORPHA:79102
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Epistaxis, Hypertension, Pulmonary venous hypertension, Enlarged kidney	ORPHA:79259
Zimmermann-Laband Syndrome 1	Myopia	OMIM:135500
Campomelic Dysplasia	Myopia	OMIM:114290
Coffin-Siris Syndrome 1	Myopia, Astigmatism, Visual impairment, Gait ataxia	OMIM:135900
Loeys-Dietz Syndrome 1	Blue sclerae	OMIM:609192
Carpenter Syndrome 2	Blue sclerae	OMIM:614976
Williams Syndrome	Myopia, Ataxia, Dysmetria, Gait disturbance, Gait imbalance, High hypermetropia, Visual impairment	ORPHA:904
Cardiospondylocarpofacial Syndrome	Blue sclerae	OMIM:157800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	High myopia, Difficulty walking, Gait ataxia	ORPHA:457359
Baller-Gerold Syndrome	Myopia, Astigmatism, High myopia	OMIM:218600
Mesomelia-Synostoses Syndrome	Myopia	OMIM:600383
Knobloch Syndrome 2	High myopia, Vitreous floaters	OMIM:618458
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Failure to thrive	OMIM:602522
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Spl...	ORPHA:744
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypermetropia, Myopia, Astigmatism, Difficulty walking	ORPHA:480880
Coffin-Siris Syndrome 12	Myopia, Hypermetropia	OMIM:619325
Osteogenesis Imperfecta, Type Vii	Blue sclerae	OMIM:610682
Alagille Syndrome 1	Myopia	OMIM:118450
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	High myopia	OMIM:300707
Benign Schwannoma	Allodynia	ORPHA:252164
Knobloch Syndrome 1	Ataxia, Visual impairment, High myopia	OMIM:267750
Charge Syndrome	Atrial septal defect, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial ...	OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal	Myopia, Visual impairment, Hypermetropia	OMIM:607872
Loeys-Dietz Syndrome 2	Blue sclerae	OMIM:610168
Poland Syndrome	Myopia	ORPHA:2911
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Photophobia, Myopia, Astigmatism	ORPHA:2273
Loeys-Dietz Syndrome	Blue sclerae	ORPHA:60030
Neuroocular Syndrome	Myopia, Hypermetropia, Amblyopia	OMIM:619539
Kabuki Syndrome 1	Blue sclerae	OMIM:147920
Turner Syndrome Due To Structural X Chromosome Anomalies	Myopia	ORPHA:99413
Mosaic Monosomy X	Myopia	ORPHA:99228
Monosomy X	Myopia	ORPHA:99226
Turner Syndrome	Myopia	ORPHA:881
Wrinkly Skin Syndrome	Blue sclerae	OMIM:278250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia	OMIM:253280
Doors Syndrome	Myopia	ORPHA:79500
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome	ORPHA:447
Cornelia De Lange Syndrome	Myopia	ORPHA:199
Noonan Syndrome 1	Myopia	OMIM:163950
Pierson Syndrome	Blindness, High myopia	OMIM:609049
Peters-Plus Syndrome	Myopia	OMIM:261540
Mowat-Wilson Syndrome	Myopia, Broad-based gait, Ataxia, Inability to walk, Astigmatism	ORPHA:2152
Roberts-Sc Phocomelia Syndrome	Blue sclerae	OMIM:268300
Microphthalmia, Syndromic 6	Myopia, Blindness	OMIM:607932
Sotos Syndrome	Myopia, Astigmatism, Hypermetropia	ORPHA:821
Vascular Ehlers-Danlos Syndrome	Blue sclerae	ORPHA:286
Singleton-Merten Syndrome 1	Waddling gait, Myopia	OMIM:182250
Wrinkly Skin Syndrome	Progressive cerebellar ataxia, High myopia	ORPHA:2834
Branchiooculofacial Syndrome	Myopia	OMIM:113620
Pallister-Killian Syndrome	Inability to walk, Myopia, Visual impairment	OMIM:601803
Pmm2-Cdg	Myopia, Ataxia	ORPHA:79318
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549

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 Adora2a

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 Adora2a.

No publications found that use IMPC mice or data for Adora2a.

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MGI Allele	Allele Type	Produced
Adora2a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Adora2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Adora2a^em1(IMPC)H	Exon Deletion	Mice
Adora2a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Adora2a^em2(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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