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Gene: Ptger4 MGI:104311

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

prostaglandin E receptor 4 (subtype EP4)

Synonyms:

EP4, Ptgerep4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptger4 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 Ptger4 (0 diseases)
Human diseases predicted to be associated with Ptger4 (1583 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ptger4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:125520
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ...	ORPHA:79099
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes...	OMIM:180300
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema...	ORPHA:199241
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Cardiom...	ORPHA:57777
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ...	ORPHA:85414
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio...	OMIM:115197
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent otitis media, Decreas...	OMIM:615615
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Coarctation of aorta	OMIM:601612
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Abnormal EKG...	ORPHA:980
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,...	ORPHA:188
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re...	ORPHA:542323
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Elevated circulating creatine kinase c...	ORPHA:206572
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P...	ORPHA:90064
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy...	ORPHA:49827
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Neonatal death, ...	OMIM:265380
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ...	OMIM:613759
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Thymoma	Myositis, Autoimmunity, Glomerulonephritis, Anti-acetylcholine receptor antibody positivity, Ulce...	ORPHA:99867
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Bipolar affective disorder	ORPHA:254351
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Ovarian Hyperstimulation Syndrome	Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl...	ORPHA:64739
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Heparin-Induced Thrombocytopenia	Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia	ORPHA:3325
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Emphysema, Cutis laxa, Aortic root aneurysm, Generalized arterial tortuosity...	OMIM:614437
Marfan Syndrome	Osteopenia, Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothorax, Joint hyp...	ORPHA:558
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt...	ORPHA:49041
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ...	ORPHA:85435
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Hereditary Xanthinuria	Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid arthritis	ORPHA:3467
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenop...	OMIM:234810
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Delayed epiphy...	OMIM:600969
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Hellp Syndrome	Elevated hepatic transaminase, Generalized edema, Cerebral hemorrhage, Prolonged prothrombin time...	ORPHA:244242
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Joint hypermobility, Conges...	OMIM:154700
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ...	ORPHA:185
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Pallor	ORPHA:79283
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Glycoprotein Storage Disease	Gout	OMIM:232900
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Sandhoff Disease	Splenomegaly, Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart f...	ORPHA:796
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron...	OMIM:615703
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Hemochromatosis, Type 2A	Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Lethar...	OMIM:602390
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esoph...	OMIM:609192
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil...	ORPHA:90068
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa...	OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure, Redundant skin	OMIM:301021
Patent Ductus Venosus	Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy...	OMIM:601466
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Mogs-Cdg	Respiratory distress, Hypoventilation, Hepatomegaly, Generalized edema, Apnea, Edema, Cardiomegal...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Persistence of hemoglobin F, Anemia, Pallor, Abnormal bone structure	ORPHA:46532
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Patent ductus arteriosus, Redundant neck skin	OMIM:610498
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio...	ORPHA:340
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Congestive he...	OMIM:619048
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant...	ORPHA:1855
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Decreased circulating antibody level	ORPHA:99811
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro...	ORPHA:91139
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hypertension, Hepatic steatosis, Pancreatitis, Coronary artery atherosclerosis	ORPHA:79084
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Developmental And Epileptic Encephalopathy 40	Lethargy, Hyaline membranes	OMIM:617065
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy...	ORPHA:2038
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, A...	OMIM:612387
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Analbuminemia	Edema, Patent ductus arteriosus, Hypotension, Recurrent lower respiratory tract infections, Oligo...	OMIM:616000
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid arthritis	ORPHA:98808
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Rhini...	ORPHA:507
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu...	OMIM:105210
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn...	ORPHA:31826
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Patent ductus arteriosus	OMIM:619519
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Patent ductus arteriosus, Double outlet right ventricle, Anomalous origin of le...	OMIM:618845
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Joint stiffness, Congestive heart failure, O...	ORPHA:1345
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Recurrent upper respira...	ORPHA:277
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Knee flex...	OMIM:604416
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Striae distensae, Joint hypermobility, Vertebral artery tortuosity, C...	OMIM:619329
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Ventricular...	OMIM:601005
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Generalized joint laxity, Rig...	OMIM:619472
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Depression, Right aortic arch...	OMIM:618780
Congenital Myopathy 11	Elevated hepatic transaminase, Neonatal respiratory distress, Polyhydramnios, Patent ductus arter...	OMIM:619967
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Re...	OMIM:619013
Stuve-Wiedemann Syndrome 2	Eczema, Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial h...	OMIM:619751
Scorpion Envenomation	Bundle branch block, Purpura, Tachycardia, Acute pancreatitis, Elevated circulating aspartate ami...	ORPHA:466677
Nephronophthisis 16	Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic steno...	OMIM:615382
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor, Lethargy	OMIM:613561
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne...	OMIM:314400
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr...	OMIM:617397
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a...	ORPHA:1959
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Atopic dermatitis, Facial erythema, Conjunc...	OMIM:603165
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Increased circulati...	OMIM:617241
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Chronic Intestinal Pseudoobstruction	Patent ductus arteriosus	ORPHA:2978
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os...	ORPHA:564003
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong...	OMIM:614473
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia	OMIM:601457
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Hepatic steatosis	ORPHA:26792
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger jo...	ORPHA:363705
Babesiosis	Hemolytic anemia, Myocardial infarction, Splenomegaly, Recurrent pharyngitis, Congestive heart fa...	ORPHA:108
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ...	ORPHA:3099
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulmona...	ORPHA:99745
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276556
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu...	OMIM:240500
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Polyhydramnios, Patent ductus arteriosus, Respiratory failure, Pul...	OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent...	OMIM:540000
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis	OMIM:606069
Methylmalonic Acidemia With Homocystinuria	Lethargy, Skin rash	ORPHA:26
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Meester-Loeys Syndrome	Joint hypermobility, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurys...	OMIM:300989
Benign Paroxysmal Torticollis Of Infancy	Apathy, Pallor	ORPHA:71518
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep...	OMIM:108900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	ORPHA:79312
Ogden Syndrome	Apnea, Cardiomegaly, Lymphedema, Microvesicular hepatic steatosis, Ventricular tachycardia, Macro...	OMIM:300855
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276575
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Lower-limb joint contracture	OMIM:613710
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ...	OMIM:619534
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276580
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal a...	ORPHA:91387
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Inc...	ORPHA:79094
Chromosome 15Q11.2 Deletion Syndrome	Joint contracture, Juvenile rheumatoid arthritis, Elbow contracture	OMIM:615656
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Abnormal lymphocyte ...	ORPHA:300751
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Ankle flexion contracture, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture,...	OMIM:608099
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy...	OMIM:243500
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Abnormal jugular vein morphology, Increased...	ORPHA:275766
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Nonimmune hydrops fetalis, Patent ductus arteriosus, Respiratory insufficiency,...	OMIM:617021
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus	OMIM:122430
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Patent ductus arteriosus	ORPHA:1952
Lethal Infantile Mitochondrial Myopathy	Lethargy, Cardiomyopathy	ORPHA:254857
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites	ORPHA:2123
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Epistaxis, Abnormality of neutrophils, S...	ORPHA:33226
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov...	ORPHA:567544
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Cra...	ORPHA:2314
Cyclic Vomiting Syndrome	Lethargy, Pallor, Cardiomyopathy	OMIM:500007
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Pallor	ORPHA:276608
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Pneumonia, Leukocytosis, Pneumothorax, Acute infectious pneumonia, Leukopeni...	ORPHA:36238
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi...	OMIM:612946
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hypertension, Normochromic ane...	OMIM:614857
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung...	ORPHA:167635
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Asthma, Micronodular cirrhosis, Patent ductus arteriosus, Hepatosplen...	OMIM:606003
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion con...	ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly,...	ORPHA:99931
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis	OMIM:617900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis	OMIM:126320
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p...	OMIM:619705
Kagami-Ogata Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmo...	OMIM:608149
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Elevated circulating C...	OMIM:616414
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:2326
Lipodystrophy, Familial Partial, Type 4	Hypertension, Stroke, Hepatic steatosis	OMIM:613877
Congenital Tracheomalacia	Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Patent ductus arteriosus, Partia...	ORPHA:95430
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi...	ORPHA:662
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Stroke-like episode, Respiratory failure, Decreased liver function, Hyp...	ORPHA:70472
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus...	OMIM:617303
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis, Pallor	ORPHA:2786
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy	ORPHA:324575
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of...	ORPHA:97214
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy, Osteoporosis	ORPHA:79230
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Skin ulcer, Re...	ORPHA:848
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal ...	OMIM:201475
Congenital Rubella Syndrome	Skin rash, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anemia, Atrial sept...	ORPHA:290
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Atrial septal defect, Limited elbow extension and supination, Ventricular septal de...	ORPHA:401935
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, Anemia	ORPHA:163596
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Cednik Syndrome	Congestive heart failure, Stroke	ORPHA:66631
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis	OMIM:613002
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decr...	OMIM:607143
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,...	OMIM:615559
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration	OMIM:618330
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Ogden Syndrome	Ventricular septal defect, Cardiogenic shock, Pulmonary artery stenosis, Cutis laxa, Lethargy, Ar...	ORPHA:276432
Severe Canavan Disease	Lethargy, Joint stiffness	ORPHA:314911
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ...	ORPHA:1830
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra...	OMIM:614921
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat...	ORPHA:397596
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:614582
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Patent ductus arteriosus, Hypoxemia, Palpitations, Pulmonary hypop...	ORPHA:2847
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art...	OMIM:601186
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa...	OMIM:618300
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Eczema, Patent ductus arteriosus, Hypertrophic c...	OMIM:615355
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Dengue Fever	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Petechiae, Leukopenia, Hy...	ORPHA:99828
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,...	OMIM:208000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Char Syndrome	Patent ductus arteriosus	OMIM:169100
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Arthritis, Re...	OMIM:611762
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Impaired T cell function, Splenomegaly, Perioral erythema, Lethargy, Dry skin	OMIM:201100
Propionic Acidemia	Pancytopenia, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, Cardiomyopathy, Neut...	OMIM:606054
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk...	ORPHA:319218
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr...	OMIM:618316
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Optic Atrophy 1	Pallor	OMIM:165500
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Lethargy	ORPHA:71277
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Meningococcal Meningitis	Shock, Stiff neck, Skin rash, Stroke, Hypotension, Lethargy, Infectious encephalitis, Petechiae, ...	ORPHA:33475
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Ventricular septal defect, Impaired T cell function, Splenomegaly, Patent ductus ar...	OMIM:614576
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis	OMIM:253240
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Bone marrow hypocellularity, P...	ORPHA:101096
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,...	ORPHA:1120
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Congestive heart failure, Reduced bone mineral density...	ORPHA:137608
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Patent ductus ar...	OMIM:608799
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, J...	ORPHA:392
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopathy	OMIM:618228
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce...	ORPHA:79139
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ...	OMIM:616501
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri...	OMIM:212138
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Congestive heart failure, Ost...	OMIM:176670
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Flexion contracture, Limitation of joint mobility, Joint hyperflexibili...	ORPHA:157973
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Periodontitis, Internal hemorrhage, Peripheral arteriovenous fist...	ORPHA:286
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal atrial arrangement, Respiratory ...	ORPHA:244
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Patent duc...	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hepatic steatosis	OMIM:615918
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Bone cyst, Arthritis, Arrhythmia	ORPHA:85446
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Lethargy, Pancreatitis, Thrombocytopenia	ORPHA:27
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis	OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Pulmonary arterial hypertension, Lethargy, Cardiomegaly	OMIM:619064
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Hepatic steatosis	OMIM:615996
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Redund...	ORPHA:90349
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Mulibrey Nanism	Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction, Recurrent ...	OMIM:253250
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Atelectasis, Leukocytosis, Abnormal pulmonary interstitial morphology, B...	OMIM:620233
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Medial calcification of large arteries, T lymphocytopenia, Infectious encephalitis, P...	ORPHA:391487
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertension, Respiratory failure, Cirrhosis, Hepatic steatosis	ORPHA:363400
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Congestive heart failure, Prominent veins on trunk, Hypertension, Cir...	ORPHA:79083
Infantile Sialic Acid Storage Disease	Osteopenia, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes	OMIM:269920
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair...	OMIM:308230
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Bronch...	OMIM:123700
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart...	ORPHA:508542
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur...	OMIM:616726
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia...	ORPHA:572
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Multiple prena...	OMIM:616866
Meacham Syndrome	Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc...	OMIM:608978
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Patent ductus arteriosus, Cholestasis, Decreased liver function, Neonatal de...	OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate...	OMIM:611126
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myocardial infarction, Redundant sk...	ORPHA:3342
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,...	ORPHA:93308
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Flexion contracture	OMIM:618658
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus	OMIM:615147
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Peritonitis, Patent...	OMIM:619351
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Patent ductus arteriosus, Joint hypermobil...	ORPHA:98892
American Trypanosomiasis	Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmi...	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver fu...	OMIM:614922
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B...	OMIM:242700
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Lethal Congenital Contracture Syndrome 8	Neonatal death, Death in infancy	OMIM:616287
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Mildly reduced ...	ORPHA:99094
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Spontaneous Periodic Hypothermia	Arrhythmia, Skin rash, Pallor	ORPHA:29822
Chromosome 18Q Deletion Syndrome	Joint laxity, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septa...	OMIM:601808
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Leukocytosis, Atopic ...	ORPHA:2902
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, Ventricular septal defe...	ORPHA:26793
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Tachypnea, Coarctation...	OMIM:220111
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Decreased circulating IgG ...	ORPHA:505248
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Osteolysis, Skin ulcer...	ORPHA:220393
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Abnormal lung morphology, Tracheobronchomalacia, Pulmonar...	ORPHA:70589
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent duc...	OMIM:618652
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonar...	ORPHA:206569
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis	OMIM:615294
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Arrhythmia, ...	ORPHA:42
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopenia, Cardiomyopathy, Neutropenia, Let...	OMIM:251000
Thanatophoric Dysplasia	Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc...	ORPHA:2655
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Bicuspid aortic valve, Eczema, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:500159
Hemochromatosis, Type 2B	Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy	OMIM:613313
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Cardiomegaly, Joint stiffness, Splenomegaly, Congestive heart failure, Stiff...	ORPHA:465508
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steato...	ORPHA:2348
Thanatophoric Dysplasia Type 2	Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Respiratory insufficienc...	ORPHA:93274
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	ORPHA:289916
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Distal Deletion 17Q	Hepatomegaly, Patent ductus arteriosus, Respiratory insufficiency	ORPHA:1597
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Hemochromatosis, Type 1	Cardiomegaly, Splenomegaly, Congestive heart failure, Osteoporosis, Telangiectasia, Cardiomyopath...	OMIM:235200
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto...	OMIM:615631
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis	OMIM:610455
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Recur...	OMIM:226300
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Pallor, Neutrop...	ORPHA:3260
Peripheral Dysostosis	Osteoarthritis, Joint stiffness	ORPHA:1795
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,...	OMIM:231530
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Tetralogy of Fallot	OMIM:250620
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Bicuspid aortic valve, Eczema, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:617751
Velocardiofacial Syndrome	Ventricular septal defect, Impaired T cell function, Interrupted aortic arch, Unilateral primary ...	OMIM:192430
Werner Syndrome	Increased bone mineral density, Telangiectasia of the skin, Abnormal cerebral vascular morphology...	ORPHA:902
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Pentasomy X	Radioulnar synostosis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Camptodactyl...	ORPHA:11
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Eczema, Eosinophilia, Delayed proximal femoral epi...	ORPHA:353298
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a...	ORPHA:1600
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip...	OMIM:231680
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ...	OMIM:267010
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Lymphedema, Patent ductus arteriosus, Hydrops fetalis, Vascular...	OMIM:601927
Meacham Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary ...	ORPHA:3097
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Schnitzler Syndrome	Increased circulating IgM level, Increased bone mineral density, Skin rash, Arthritis	ORPHA:37748
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombocytopenia, Leu...	ORPHA:824
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Idiopathic Congenital Hypothyroidism	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:95717
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Gastritis, Bicuspid aortic valve, Increased mean platelet volu...	ORPHA:84064
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hepatic steatosis	OMIM:617872
Whim Syndrome	Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis...	ORPHA:51636
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Bipolar affective disorder, Stroke	ORPHA:3077
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus	ORPHA:1338
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Craniosynostosis, Abnormal left ventricular funct...	OMIM:301056
Pontocerebellar Hypoplasia, Type 6	Lethargy, Elbow contracture	OMIM:611523
Immunoneurologic Disorder, X-Linked	Neonatal death	OMIM:300076
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function,...	OMIM:613179
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hepatic steatosis, Hepatomegaly	OMIM:615238
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Asthma, Recurrent upper respiratory tract infecti...	ORPHA:293939
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Coarctation of aorta, P...	OMIM:614300
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Kawasaki Disease	Pericarditis, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vas...	ORPHA:2331
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Pancytopenia, Skin rash, Dextrocardia, Megaloblastic anemia, Thrombocytopen...	OMIM:277380
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Craniosynostosis	ORPHA:1516
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect...	ORPHA:79329
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Immunodeficiency 58	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Psoriasiform lesion, Ecz...	OMIM:618131
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Vici Syndrome	Recurrent respiratory infections, Lymphopenia, Atrial septal defect, Left ventricular hypertrophy...	OMIM:242840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:1194
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy	OMIM:617184
Necrotizing Enterocolitis	Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni...	ORPHA:391673
Dysbetalipoproteinemia	Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl...	ORPHA:412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Thyroid Dyshormonogenesis 1	Lethargy, Dry skin	OMIM:274400
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Abnormal cardiac ventricular function, Cardiomyopathy	ORPHA:2394
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno...	ORPHA:2257
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Patent ductus arteriosus, Uveitis, Atrial septal defect, Patent forame...	OMIM:617044
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Redundant skin	ORPHA:251046
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Death in infancy, Death in childhood	OMIM:620265
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hepatic steatosis	OMIM:615980
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Anemia	ORPHA:28
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Redundant skin, Flexion contracture, Limitation of joint mobilit...	ORPHA:171719
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Joint stiff...	ORPHA:354
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Death in childhood	OMIM:618961
Atransferrinemia	Congestive heart failure, Hypochromic anemia	OMIM:209300
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circu...	OMIM:619774
Lesch-Nyhan Syndrome	Hyperuricemia, Gout	ORPHA:510
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Hypoplastic aortic arch, Coa...	ORPHA:2876
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Hypotension, Lethargy, Infectious encepha...	ORPHA:83317
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Bipolar affective disorder, Supraventricular tachycardia with an accesso...	ORPHA:404443
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Arrhythmia, Hepatic failure, Hepatic...	ORPHA:228305
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Isolated Atp Synthase Deficiency	Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis	OMIM:608709
Lipodystrophy, Familial Partial, Type 3	Hypertension, Prominent superficial veins, Hepatic steatosis, Cirrhosis	OMIM:604367
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Depression, Reduced bone mineral density, Lethargy	ORPHA:79239
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism...	OMIM:270100
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Dextrocardia	ORPHA:2863
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Osteolysis, Increased susceptibility to fractures, Cardiomyopathy, Calv...	ORPHA:52430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Increased hepat...	OMIM:261680
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch	ORPHA:2248
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coa...	OMIM:618164
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Megaloblastic anemia	OMIM:236270
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hyperhomocystine...	OMIM:617780
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Stroke, Cerebral ischemia	ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De...	OMIM:251290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero...	ORPHA:209902
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ...	OMIM:203800
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Cutaneous anergy, Chr...	OMIM:209920
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus...	ORPHA:79126
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Dermal translucency, Redundant neck skin, Joint laxity, Redunda...	ORPHA:90348
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat...	ORPHA:90033
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Hepatic steatosis	ORPHA:445038
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Fused cervical vertebrae, Pallor, Bone marrow hypocellularity, Neutrop...	OMIM:609053
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri...	OMIM:619657
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circu...	OMIM:608836
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre...	ORPHA:47
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Hepatomegaly, Prominent superficial veins, Splenomegaly, Patent...	OMIM:612541
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy	OMIM:618226
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Wide anterior fontanel, Patent ductus arterio...	OMIM:300963
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis	ORPHA:205
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio...	OMIM:619487
Alg12-Cdg	Recurrent respiratory infections, Redundant skin, Partial absence of specific antibody response t...	ORPHA:79324
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arte...	OMIM:121050
Encephalitis Lethargica	Lethargy, Stiff neck, Increased circulating antibody level, Bradycardia	ORPHA:83600
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto...	ORPHA:67
Odontochondrodysplasia	Death in infancy, Patent ductus arteriosus	ORPHA:166272
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Avian Influenza	Pneumonia, Thrombocytopenia, Congestive heart failure, Pneumothorax, Hepatitis, Leukopenia, Conju...	ORPHA:454836
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation	OMIM:220220
Asbestos Intoxication	Right ventricular failure, Atelectasis, Pleural thickening, Cor pulmonale, Abnormal pulmonary int...	ORPHA:2302
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Jaundice, Cholestasis, Abnorma...	ORPHA:79303
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death	OMIM:615228
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Reduced bone mineral de...	ORPHA:324
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Cinca Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Patellar overgrowth, Uveitis, A...	OMIM:607115
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, P...	ORPHA:210122
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Congestive heart failure, Cirrhosis, Hypertrophic card...	ORPHA:528
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ...	ORPHA:70591
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Hypertensive ...	ORPHA:544482
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Riboflavin Deficiency	Lethargy	OMIM:615026
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Elevated circulating ala...	OMIM:615381
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Lethargy, Tachycardia, Pallor	ORPHA:263455
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Lethargy, A...	ORPHA:20
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, High-output con...	ORPHA:137667
Dravet Syndrome	Bradykinesia, Pallor, Limited knee extension	ORPHA:33069
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema	OMIM:201450
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Polyhydramnios, Congestive heart failure, Recurrent pneu...	OMIM:616271
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Hypertension, Increased mean corpuscular volume, N...	ORPHA:2169
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Congestive heart failure, Generalized joint laxity, Recurrent pneumonia, Osteoporosis...	ORPHA:1900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Joint stiffness, Tetralogy of Fallot, Abnormal aortic morphology, Abno...	ORPHA:1166
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem...	ORPHA:743
Familial Chylomicronemia Syndrome	Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Jaundice, Hepatosplenomegaly,...	ORPHA:444490
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death	OMIM:612138
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Atrial septal defect, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Recurrent ot...	ORPHA:3304
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Apnea	OMIM:619797
Thanatophoric Dysplasia Type 1	Redundant skin, Joint stiffness, Wide anterior fontanel, Patent ductus arteriosus, Aplasia/Hypopl...	ORPHA:1860
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,...	OMIM:619510
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Neutrope...	ORPHA:79284
Cardiac Valvular Dysplasia 1	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Lef...	OMIM:212093
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Increased circulating IgM lev...	ORPHA:448237
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Leukopenia...	ORPHA:974
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Patent ductus arteriosus, Cer...	OMIM:602782
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Emanuel Syndrome	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ...	OMIM:609029
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy...	ORPHA:2970
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Splenomegaly,...	ORPHA:171
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Central Diabetes Insipidus	Lethargy, Depression	ORPHA:178029
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Osteoporosis...	OMIM:239850
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Tachycardia, Petechiae, Splenomegaly, Leukocyt...	ORPHA:90051
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Hyperuricemia, Gout	OMIM:162000
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype...	ORPHA:348
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins, Abnormality of the...	ORPHA:33001
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Erythema, Left ventricular hypertro...	OMIM:618321
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	OMIM:619769
Adult-Onset Still Disease	Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Hepa...	ORPHA:829
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio...	OMIM:153400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Hypertrophic cardiomyopathy, Cardiac arrest, Myofiber disarray	OMIM:604377
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death	OMIM:619602
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent d...	OMIM:612562
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Achilles tendon contracture, Dilated cardiomyopathy, Flex...	OMIM:310200
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Congestive heart failure, Vacuola...	OMIM:230500
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr...	OMIM:256040
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Right bundle branch block, Decreased cervical spine fle...	ORPHA:254361
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d...	OMIM:620244
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Skin rash, Pallor	ORPHA:90036
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis, Elevated circulating C-reactive protein concentration	OMIM:619423
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Osteoporos...	OMIM:259100
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Joint laxity	ORPHA:500533
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Re...	OMIM:604571
Marburg Hemorrhagic Fever	Uveitis, Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytos...	ORPHA:99826
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Tay-Sachs Disease	Cherry red spot of the macula, Apathy, Pallor	OMIM:272800
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo...	OMIM:615668
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Pallor, Hypochromic a...	OMIM:600462
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Patent ductus arteriosus, Respira...	OMIM:269860
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Mirage Syndrome	Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Hypoplastic spleen, Pete...	OMIM:617053
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem...	ORPHA:86839
Cholera	Tachycardia, Hypovolemic shock, Stroke, Hypotension, Aspiration pneumonia, Palmoplantar cutis lax...	ORPHA:173
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Restrictive ventilatory defect, Hepatic steatosis, Hepatomegaly	ORPHA:369840
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Precocious...	ORPHA:275761
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology, Cutis laxa	OMIM:614100
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cholestasis, Cardio...	ORPHA:746
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca...	OMIM:619573
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy	OMIM:242500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Acroosteolysis of distal phalanges (feet), Precocious atherosclerosi...	ORPHA:280365
Idiopathic Steroid-Resistant Nephrotic Syndrome	Edema, Pulmonary embolism, Respiratory tract infection, Periorbital edema, Peritonitis	ORPHA:567548
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Pneumonia, Arthritis, ...	ORPHA:229717
8P23.1 Microdeletion Syndrome	Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aort...	ORPHA:251071
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Pediatric-Onset Graves Disease	Episcleritis, Atrial fibrillation, Craniosynostosis, Keratitis, Splenomegaly, Congestive heart fa...	ORPHA:525731
Listeriosis	Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Wide anterior fontanel, Congestive heart f...	ORPHA:3309
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Ramon Syndrome	Juvenile rheumatoid arthritis	OMIM:266270
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Decreased c...	ORPHA:634
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Developmental And Epileptic Encephalopathy 41	Lethargy, Flexion contracture	OMIM:617105
Trichinellosis	Skin rash, Increased circulating IgE level, Central retinal artery occlusion, Retinal hemorrhage,...	ORPHA:863
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Neonatal respiratory distress, Polyhydramnios, First degree atrioventricular...	ORPHA:589821
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Edema, Hematemesis, Splenomegaly, Pericardi...	OMIM:615846
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust...	OMIM:614204
Holocarboxylase Synthetase Deficiency	Eczema, Keratoconjunctivitis, Lethargy, Thrombocytopenia, Perioral eczema	ORPHA:79242
Dislocation Of The Hip-Dysmorphism Syndrome	Joint hyperflexibility, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tr...	ORPHA:2412
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Hepatomegaly, Acute hepatic failure, Elevated circulating aspartate aminotr...	OMIM:256810
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat...	ORPHA:264580
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Lethargy	OMIM:620306
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Flexion contracture, Arthritis, Panniculiti...	OMIM:617591
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema...	OMIM:614700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Elbow contracture, Patent ductus arteriosus, Knee flexion contracture,...	OMIM:618162
Emanuel Syndrome	Recurrent respiratory infections, Atrial septal defect, Redundant neck skin, Ventricular septal d...	ORPHA:96170
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Familial Thyroid Dyshormonogenesis	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:95716
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Limit...	OMIM:618870
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia	OMIM:613839
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Aminopterin/Methotrexate Embryofetopathy	Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	ORPHA:1908
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Lethargy	OMIM:238970
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus	ORPHA:2547
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Radioulnar synostosis, Patent ductus arteriosus, Craniosynostosis	ORPHA:171839
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal pericardium morphology, Abnormal ...	ORPHA:2357
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Apathy, Pallor, Anemia	OMIM:246450
Lysinuric Protein Intolerance	Osteopenia, Glomerulonephritis, Thrombocytopenia, Osteoporosis, Intraalveolar phospholipid accumu...	ORPHA:470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Splenomegaly, Microvesicular hepatic st...	OMIM:619418
Classic Multiminicore Myopathy	Multiple joint contractures, Right ventricular failure, Congestive heart failure, Mitral valve pr...	ORPHA:324604
Pyruvate Dehydrogenase Deficiency	Lethargy, Osteolytic defects of the middle phalanx of the 4th toe	ORPHA:765
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo...	ORPHA:99827
Congenital Tracheal Stenosis	Respiratory distress, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Neonatal asphyxi...	ORPHA:141127
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Conges...	ORPHA:35687
Meconium Aspiration Syndrome	Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter...	ORPHA:70588
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Stiff neck, Pneumonia, Respiratory tract infection, Pustule, Skin...	ORPHA:68
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus	ORPHA:452
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hepatitis, Dry skin,...	ORPHA:199299
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Redundant skin, Camptodactyly of finger, Pulmona...	ORPHA:96167
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Elevated ...	OMIM:300972
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Dyspnea, Facial edema, P...	ORPHA:567546
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arterios...	ORPHA:2962
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ...	ORPHA:124
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Infantile Liver Failure Syndrome 2	Lethargy, Cardiomyopathy	OMIM:616483
Aarskog-Scott Syndrome	Congestive heart failure, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Jo...	ORPHA:915
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi...	ORPHA:47612
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus...	ORPHA:2637
Noonan Syndrome 10	Atrial septal defect, Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarc...	OMIM:616564
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Redundant skin, Wide anterior fontanel, Congestive heart failure, Neonatal death, ...	OMIM:616482
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Abnormal pulmonary valve morphology, Craniosynostosis, Recurren...	ORPHA:667
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Stroke, Hepatic steatosis, Pancreatitis, Myocardial infarction	OMIM:236200
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Weill-Marchesani Syndrome 2	Striae distensae, Ventricular septal defect, Joint stiffness, Congestive heart failure, Patent du...	OMIM:608328
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Ani...	OMIM:618278
Idiopathic Bronchiectasis	Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious p...	ORPHA:60033
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Pulmonary...	OMIM:208050
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Pallor, Depression	ORPHA:13
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transamina...	ORPHA:17
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:300536
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus	OMIM:617661
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit...	OMIM:304790
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Patent ductus arteriosus, Recurrent pneumonia, Flexion contracture, Recurrent bronc...	OMIM:619293
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia, Stomatitis, Anemia	OMIM:246400
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Radioulnar synostosis, Flexion contracture of th...	ORPHA:2712
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Chro...	ORPHA:922
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro...	OMIM:605676
Keutel Syndrome	Sinusitis, Ventricular septal defect, Recurrent bronchitis, Premature fusion of phalangeal epiphy...	OMIM:245150
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Atelectasis, Hepatitis, Scleritis, ...	ORPHA:728
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial mo...	OMIM:613658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Joint hypermobility, Craniosynostosis, Patent...	OMIM:617506
Retinitis Pigmentosa 51	Pallor	OMIM:613464
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Mitral stenosis, Ventric...	ORPHA:163956
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Cardiomyopathy, Hype...	ORPHA:79086
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Trisomy 13	Patent ductus arteriosus, Abnormal lung lobation, Hydrops fetalis	ORPHA:3378
Lethal Faciocardiomelic Dysplasia	Radial club hand, Patent ductus arteriosus, Hypoplastic left heart	ORPHA:1972
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Pulmonary arterial hypertension	OMIM:605711
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Anemia	OMIM:615838
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Afibrinogenemia, Congenital	Death in infancy, Epidural hemorrhage, Subdural hemorrhage, Death in adolescence, Death in childh...	OMIM:202400
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Wide anterior fontanel, Congestive heart failure, Abnormal heart morphology, ...	ORPHA:26791
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat...	ORPHA:71212
Myelofibrosis	Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus	OMIM:241310
Carpenter Syndrome 1	Atrial septal defect, Ventricular septal defect, Sagittal craniosynostosis, Patent ductus arterio...	OMIM:201000
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri...	OMIM:212065
Ssr4-Cdg	Patent ductus arteriosus	ORPHA:370927
Carpenter Syndrome	Patent ductus arteriosus, Polysplenia	ORPHA:65759
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Atrial fibrillation, Dilated cardiomyopathy, Osteoporosis, Depression...	ORPHA:254892
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure...	ORPHA:541423
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Vertical Talus, Congenital	Arthritis	OMIM:192950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype...	OMIM:620005
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Recurrent pneumonia, Fle...	OMIM:309900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture, Hepat...	ORPHA:367
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu...	OMIM:612863
Noonan Syndrome 2	Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect...	OMIM:605275
Cardiomyopathy, Dilated, 2H	Neonatal death	OMIM:620203
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal ...	OMIM:612582
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se...	OMIM:613795
Monosomy 13Q34	Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis	ORPHA:96168
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Mi...	OMIM:617156
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Hepatic calcification, Re...	ORPHA:228308
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Congestive heart failu...	OMIM:615895
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart mo...	ORPHA:369837
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Cheilitis, Uveitis,...	ORPHA:247353
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Stroke	OMIM:237300
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Seborrheic dermatitis, Patent ductus ...	ORPHA:488618
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil...	ORPHA:1054
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Depression, Reduced bone mineral density, Hypotension, Arrhythm...	ORPHA:428
Beta-Ketothiolase Deficiency	Leukocytosis, Hypertension, Apathy, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:617056
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Mosaic Trisomy 9	Polyhydramnios, Asplenia, Patent ductus arteriosus, Abnormal lung lobation, Hydrops fetalis, Abno...	ORPHA:99776
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Pallor,...	ORPHA:98870
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Death in childhood	OMIM:619334
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Absent ossification of calvaria, Congestive heart failure, Multiple prenatal...	OMIM:166210
Waardenburg Syndrome Type 3	Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis, Atrial septal defect, Syno...	ORPHA:896
Lujo Hemorrhagic Fever	Shock, Stiff neck, Skin rash, Maculopapular exanthema, Atelectasis, Fulminant hepatitis, Myocardi...	ORPHA:319213
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Righ...	OMIM:617403
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Mildly elevated creatine kinase	ORPHA:397744
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:2519
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Tachycardia, Tracheomalacia, Pericardial effusion, Pat...	OMIM:618280
Seckel Syndrome 9	Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ...	OMIM:616777
Incontinentia Pigmenti	Skin rash, Eosinophilia, Telangiectasia of the skin, Camptodactyly of finger, Keratitis, Congesti...	ORPHA:464
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Joint stiffness, Sp...	ORPHA:579
Insulinoma	Lethargy, Palpitations	ORPHA:97279
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Xanthelasm...	OMIM:210250
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coa...	OMIM:300514
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Patent ductus arteriosus, Aortic valve stenosis	OMIM:243310
Distal Triplication 15Q	Craniosynostosis, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnorma...	ORPHA:314588
Alagille Syndrome 2	Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ...	OMIM:610205
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Congestive hea...	OMIM:617253
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Chops Syndrome	Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, ...	OMIM:616368
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus, Joint hypermobility	OMIM:618659
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Atelectasi...	OMIM:306400
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Loeys-Dietz Syndrome 4	Joint laxity, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuos...	OMIM:614816
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Lethargy, Arrhythmia	ORPHA:159
Fanconi Anemia, Complementation Group F	Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Atrial sept...	OMIM:603467
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Accessory spleen, Joint laxity, Redundant skin,...	OMIM:613177
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Calcaneal epiphyseal stippling, Ventricular septal defect, Abno...	ORPHA:79345
Down Syndrome	Joint laxity, Redundant neck skin, Ventricular septal defect, Atrioventricular canal defect, Pulm...	OMIM:190685
Martsolf Syndrome 1	Joint laxity, Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiom...	OMIM:212720
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Cardiomyopathy, Increased in...	ORPHA:98907
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Arrhythmia	ORPHA:254346
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Gout, Increased total bilirubin	OMIM:232800
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis,...	ORPHA:435638
Citrullinemia Type I	Lethargy	ORPHA:247525
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Respiratory insufficiency due to muscle weakness, Decreased liver function, Diffuse...	ORPHA:436271
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart...	ORPHA:363444
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Double outlet right vent...	OMIM:614886
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ...	ORPHA:343
3Q29 Microdeletion Syndrome	Bipolar affective disorder, Patent ductus arteriosus, Depression, Joint hyperflexibility, Subvalv...	ORPHA:65286
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste...	ORPHA:464343
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom...	OMIM:618329
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Iridocyclitis, Splenomegaly...	OMIM:181000
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro...	OMIM:557000
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Eczema, Ventricular septal defect, Patent ductus arterio...	OMIM:610443
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h...	ORPHA:79282
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Pagod Syndrome	Sudden cardiac death, Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypopla...	ORPHA:991
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Elbow flexion contracture, Coarctation of aor...	ORPHA:1692
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Patent ductus arteriosus	OMIM:609757
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Osteoporosis, Pathologic fracture, Knee flexion contractur...	OMIM:601559
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p...	ORPHA:83471
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Card...	ORPHA:565612
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Patent ductus arteriosus, Pulmonary arterial hypertension	ORPHA:261279
Graft Versus Host Disease	Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula...	ORPHA:39812
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic...	OMIM:220110
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung loba...	ORPHA:1666
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Redundant neck skin, Wide anterior fontanel, Patent ductus arteriosus, Cardiomyopathy, Abnormal c...	OMIM:217980
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat...	ORPHA:3261
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity...	ORPHA:284984
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Splenomegaly, Wide ante...	OMIM:614866
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Patent ductus arteriosus, Joint contracture, Neutropenia, Atrial septal defect, Recur...	OMIM:618005
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Atelectasis, E...	OMIM:610978
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteri...	OMIM:616894
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal cerebral vascular morphology, Reduced bone mineral density, Prem...	ORPHA:79474
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Orotic Aciduria	Ventricular septal defect, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly	OMIM:614846
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Osteoporosis, Atrial septal defect, C...	OMIM:617190
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Chron...	OMIM:244400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Patent ductus arter...	OMIM:214100
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus, Limitation of joint mobility, Achilles tendon con...	ORPHA:363528
Maple Syrup Urine Disease	Lethargy, Pancreatitis	OMIM:248600
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Total anomalous pulmonary venous return, Pulmonic sten...	OMIM:115470
Esophageal Atresia	Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu...	ORPHA:1199
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os...	ORPHA:36234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Patent ductus arteriosus, Osteoporosis, Lambdoidal craniosynostosis, Restrictive card...	OMIM:615398
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Redundant skin, Cutis laxa, Ascending tubular aor...	OMIM:219100
D-Glyceric Aciduria	Patent ductus arteriosus, Neonatal respiratory distress, Bradycardia	OMIM:220120
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary arterial hyperte...	ORPHA:2282
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Anti-Glomerular Basement Membrane Disease	Arthritis, Autoimmunity	ORPHA:375
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus	OMIM:617516
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Stroke, Splenic cyst, Enlarged ki...	OMIM:618188
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Asthma, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibr...	OMIM:619377
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly, Congestive heart failure, Depression	OMIM:619259
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Cheilitis, Hypochromic microcytic anemia	ORPHA:54028
Char Syndrome	Symphalangism of the 5th finger, Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Kleefstra Syndrome	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci...	ORPHA:261494
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper...	ORPHA:66628
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Flexion contracture, Osteoporosis, Atrial septal de...	ORPHA:398069
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Petechiae, Congestive heart failure, Hepatosplenomegaly, Tubulointer...	ORPHA:85450
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du...	OMIM:613610
Phace Association	Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc...	OMIM:606519
Trisomy 17P	Flexion contracture, Patent ductus arteriosus, Hypoplastic left heart, Aortic valve stenosis	ORPHA:261290
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch...	ORPHA:101330
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Death in childhood	OMIM:612938
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic ...	OMIM:610505
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Osteoporosis, Lethargy	ORPHA:398079
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hepatitis, In...	OMIM:194380
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Hepatomegaly, Epistaxis, Prolonged bleeding following procedure, Hepatocellula...	ORPHA:79259
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis	OMIM:619148
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Fused cervical vertebr...	OMIM:617159
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Palpebral edema, Hepatosplenomegaly	ORPHA:397709
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Dry skin, Depression	ORPHA:99832
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pn...	OMIM:300472
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Bradycardia, Lethargy, Dry skin	ORPHA:90674
Fetal Gaucher Disease	Neonatal death, Death in infancy, Stillbirth, Intracranial hemorrhage	ORPHA:85212
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Craniosynostosis	ORPHA:1790
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper...	ORPHA:179494
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume	OMIM:300048
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Camptodactyly of finger, Patent ductus art...	ORPHA:2092
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Hepatomegaly, Patent ductus arteriosus	OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Prune Belly Syndrome	Patent ductus arteriosus	OMIM:100100
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy	OMIM:613730
Larsen-Like Syndrome, Lethal Type	Neonatal death	OMIM:245650
Geleophysic Dysplasia 1	Osteopenia, Tricuspid stenosis, Camptodactyly of finger, Joint stiffness, Congestive heart failur...	OMIM:231050
Mucolipidosis Ii Alpha/Beta	Osteopenia, Aortic regurgitation, Craniosynostosis, Cardiomegaly, Splenomegaly, Congestive heart ...	OMIM:252500
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Cirrhosis, Familial	Lethargy, Fulminant hepatitis, Hypertension, Pulmonary arterial hypertension	OMIM:215600
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Medulloblastoma	Neoplasm of the lung, Lethargy, Cerebellar hemorrhage	ORPHA:616
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Patent ductus arteriosus, Biliary atresia, Oligo...	ORPHA:2255
Dehydrated Hereditary Stomatocytosis	Edema, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension...	ORPHA:3202
Hajdu-Cheney Syndrome	Osteopenia, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Recurre...	ORPHA:955
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Craniosynostosis	ORPHA:457193
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar...	ORPHA:500
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Lateral Meningocele Syndrome	Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Scl...	OMIM:130720
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251110
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa...	ORPHA:300298
Fanconi Anemia, Complementation Group O	Neonatal death, Death in infancy, Miscarriage	OMIM:613390
3-Methylglutaconic Aciduria, Type Viii	Apnea, Jaundice, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Neonatal d...	OMIM:617248
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis, Lethargy	OMIM:253260
Childhood Absence Epilepsy	Pallor, Depression	ORPHA:64280
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia, Flexion contracture	ORPHA:682
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Deafness-Craniofacial Syndrome	Patent ductus arteriosus	ORPHA:3241
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Wiedemann-Steiner Syndrome	Joint laxity, Atrial septal defect, Contracture of the distal interphalangeal joint of the finger...	OMIM:605130
C Syndrome	Fused sternal ossification centers, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa	OMIM:211750
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Sotos Syndrome	Joint laxity, Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular septal de...	OMIM:117550
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture	ORPHA:435938
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan...	ORPHA:98908
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis	ORPHA:3165
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Myocard...	ORPHA:904
Degcags Syndrome	Osteopenia, Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Patent foramen oval...	OMIM:619488
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Splenomegaly, Congestive heart failure, Excessive wrinkled skin, P...	OMIM:608779
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Polyhydramn...	OMIM:261515
Desmosterolosis	Increased bone mineral density, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venou...	ORPHA:35107
Digeorge Syndrome	Bipolar affective disorder, Acne, Impaired T cell function, Ventricular septal defect, Seborrheic...	OMIM:188400
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Patent ductus arteriosus, Reticulocytopenia, Abnormal heart morpholo...	OMIM:227646
Myopathy, Mitochondrial, And Ataxia	Pallor, Depression	OMIM:617675
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Hepatic steatosis, Supraventricular arrh...	ORPHA:2959
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Respiratory tract infection, Left ventricular outflow tract obstruction, Shortened ...	ORPHA:308552
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Apnea	OMIM:210200
Silver-Russell Syndrome 3	Patent ductus arteriosus, Oligohydramnios	OMIM:616489
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Tachycardia	OMIM:229700
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a...	OMIM:600001
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Joint hypermobility	OMIM:300219
Trisomy 1Q	Patent ductus arteriosus, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios	ORPHA:261344
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal internal carotid arte...	ORPHA:365
Bloom Syndrome	Recurrent upper respiratory tract infections, Bronchiectasis, Facial telangiectasia in butterfly ...	OMIM:210900
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Colchicine Poisoning	Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock,...	ORPHA:31824
Leigh Syndrome	Multiple joint contractures, Ventricular septal defect, Eczema, Congestive heart failure, Neutrop...	ORPHA:506
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon...	OMIM:614609
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Hepatic steatosis, A...	OMIM:151660
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Gastrointestinal hemorrhage, Joint laxity, Congestive heart failure, Recurrent pneumo...	OMIM:225400
Farber Disease	CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent upper...	ORPHA:333
Renal Hypoplasia, Bilateral	Lethargy, Hypertension, Anemia	ORPHA:97362
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Osteoporosis, Hypertroph...	ORPHA:1517
Fontaine Progeroid Syndrome	Dermal translucency, Prominent superficial veins, Tricuspid regurgitation, Atrial septal defect, ...	OMIM:612289
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia, Gout	ORPHA:411543
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Ventricular septal defect, Eosinophilia, Seborrheic dermatitis, Thrombocytopen...	OMIM:274000
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Holocarboxylase Synthetase Deficiency	Lethargy, Skin rash, Thrombocytopenia	OMIM:253270
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Feingold Syndrome	Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas	ORPHA:1305
Irida Syndrome	Pallor	ORPHA:209981
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Crani...	ORPHA:536467
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin, Hashim...	ORPHA:91355
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Asthma, Patent ductus arteriosus after birth at term	ORPHA:251061
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy	ORPHA:2089
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Contracture of the proximal i...	OMIM:618223
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis	ORPHA:71
Weill-Marchesani Syndrome 1	Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Mitral regurgitation, Pulmo...	OMIM:277600
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,...	ORPHA:699
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Flexion contracture, Cardiomyopathy	OMIM:201470
Hydranencephaly	Stiff neck, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Ab...	ORPHA:2177
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth...	ORPHA:85438
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Ventricular septal defect, Flexion contracture, Reticulocytopenia, A...	OMIM:227645
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:435660
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Polyhydramnios, Microvesicular hepatic steatosis, Patent ductus arteriosus, Hydrops...	OMIM:300868
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Synostosis of joints	ORPHA:61
Diabetic Embryopathy	Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ...	ORPHA:1926
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaun...	ORPHA:247598
Congenital Myopathy 12	Jaw contracture, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyly	OMIM:612540
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent ductus arteriosus, Limb joint contracture, Patent foramen ovale	OMIM:620327
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Erythema, Retinal hemorrhage, Uve...	OMIM:308300
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a...	ORPHA:575
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma	OMIM:618913
Familial Hypoaldosteronism	Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Patent ductus arteriosus, Conjunctivitis, Blepharitis	OMIM:106260
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor...	ORPHA:1708
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pul...	OMIM:616737
Cardiomyopathy, Dilated, 2G	Neonatal death, Cerebral hemorrhage	OMIM:619897
Adenohypophysitis	Normochromic anemia, Hashimoto thyroiditis, Pallor, Orthostatic hypotension	ORPHA:95512
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:616300
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, P...	OMIM:147750
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy, Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Patent ductus arteriosus, Dehydration,...	ORPHA:96191
Opitz Gbbb Syndrome	Ventricular septal defect, Craniosynostosis, Tracheomalacia, Patent foramen ovale, Patent ductus ...	ORPHA:2745
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Intracrani...	ORPHA:163979
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Limited elbow extension, Craniosynostosis	OMIM:609625
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Atrial septal defect, Ventricular septal defect, Sagittal crani...	OMIM:609942
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619648
Abetalipoproteinemia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa...	ORPHA:14
Desmosterolosis	Generalized osteosclerosis, Patent ductus arteriosus, Total anomalous pulmonary venous return, Ar...	OMIM:602398
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Elevated hepatic...	ORPHA:66634
Pediatric Systemic Lupus Erythematosus	Myositis, Antiphospholipid antibody positivity, Skin rash, Antinuclear antibody positivity, Disco...	ORPHA:93552
Aceruloplasminemia	Refractory anemia, Congestive heart failure, Apathy, Hypochromic microcytic anemia	ORPHA:48818
Neurodevelopmental Disorder With Spasticity And Poor Growth	Recurrent respiratory infections, Patent ductus arteriosus, Achilles tendon contracture, Knee fle...	OMIM:618076
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Increased nuchal translucency, Patent ductus arteriosus, Aortic root aneurysm, Pulmonary arterial...	ORPHA:280633
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,...	ORPHA:2614
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Hyperuricemia, Gout	OMIM:603860
Panhypophysitis	Normochromic anemia, Hashimoto thyroiditis, Pallor, Orthostatic hypotension	ORPHA:95513
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Craniosynostosis	ORPHA:96148
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Recurrent pancreatitis, Dec...	OMIM:618268
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Congestive heart failure, N...	OMIM:615512
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia, Craniosynostosis	ORPHA:2203
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Cervical C2/C3 vertebral fusion, Congestive heart failure, Patent duct...	ORPHA:444077
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona...	OMIM:611812
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Osteopor...	ORPHA:91347
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Spina ...	ORPHA:52
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Hypotension	OMIM:608643
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati...	ORPHA:1556
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Sweeney-Cox Syndrome	Asplenia, Patent ductus arteriosus, Polyhydramnios	OMIM:617746
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Microvesicul...	OMIM:203700
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:90673
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension	ORPHA:95613
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus	OMIM:300968
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Marshall-Smith Syndrome	Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Premature ventricu...	OMIM:602535
Feingold Syndrome 1	Accessory spleen, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent ductus arteriosus, Polyspl...	OMIM:164280
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Depression, Joint hyperflexibility, Abnormal cardiac septum morphology,...	ORPHA:250989
Riddle Syndrome	Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Decreased c...	ORPHA:420741
Non-Functioning Pituitary Adenoma	Hypotension, Pallor, Anemia of inadequate production	ORPHA:91349
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Prolactinoma	Osteopenia, Osteoporosis, Pallor, Hypotension	ORPHA:2965
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Limited elbow movement, Patent ductus arteriosu...	OMIM:610759
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int...	ORPHA:394
Loeys-Dietz Syndrome	Striae distensae, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Camptodactyly of finger,...	ORPHA:60030
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
White-Sutton Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Joint laxity	OMIM:616364
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi...	OMIM:613309
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Pulmonary hypoplasia	OMIM:313850
Atelis Syndrome 2	Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ...	OMIM:620185
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Prolonged neonatal jaundice...	ORPHA:363611
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Bruising susceptibility, Hepatic steatosis	ORPHA:189427
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Inf...	ORPHA:36412
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aort...	OMIM:270400
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Fumarase Deficiency	Necrotizing enterocolitis, Perimembranous ventricular septal defect, Polycythemia, Pallor	OMIM:606812
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, An...	OMIM:620365
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Arima Syndrome	Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Elevated ci...	ORPHA:1304
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L...	OMIM:600901
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Stroke	ORPHA:395
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus	OMIM:617247
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
7Q11.23 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Craniosynostosis, Tracheomalacia, Patent ductus ...	ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Pulmonary hypoplasia, Polyhydramnios	OMIM:614080
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
9Q33.3Q34.11 Microdeletion Syndrome	Patent ductus arteriosus, Asthma, Epistaxis, Telangiectasia	ORPHA:495818
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Premature osteoarthritis, ...	OMIM:611962
Posterior Urethral Valve	Lethargy, Hypertension, Pyelonephritis	ORPHA:93110
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Craniosynostosis, Patent ductus arteriosus, Limited elbow extension, Hyperextensible ...	ORPHA:457395
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta	OMIM:617260
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, Myocarditis, Osteoly...	ORPHA:809
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, Ci...	OMIM:608594
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L...	OMIM:227650
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Abnormal T-wave, Dry skin, ST segment depression, Hypotension, Lethargy, A...	ORPHA:466650
Boomerang Dysplasia	Neonatal death	OMIM:112310
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul...	OMIM:620024
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo...	OMIM:124000
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cirrhosis, He...	OMIM:229600
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti...	OMIM:135500
Lymphatic Malformation 12	Neonatal death, Death in adolescence	OMIM:620014
Cimdag Syndrome	Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis	OMIM:619273
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Cutis laxa, Mitral...	OMIM:614557
Semilobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:220386
Alobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93926
Lobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93924
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I...	OMIM:260920
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Seborrheic dermatitis	OMIM:210210
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased circulating total IgG, Osteomalacia, Elevated circulating C-reactive pro...	OMIM:619381
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Patent ductus...	OMIM:249000
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Joint hypermobility	OMIM:606232
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating creatine kinase...	ORPHA:93672
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Wide anterior fontanel, Patent ductus art...	OMIM:257920
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Hypertroph...	OMIM:600268
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Pulmonary arterial hypertension, Laryngotracheomalacia, Coarctation of ...	OMIM:618454
Roifman-Chitayat Syndrome	Osteopenia, Arthritis, Pneumonia	OMIM:613328
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Nodular regenerati...	ORPHA:404454
Familial Mediterranean Fever	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Arthr...	OMIM:249100
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preductal coarctatio...	OMIM:146510
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Patent ductus arteriosus, Hematochezia, Melena, I...	ORPHA:79076
Weaver Syndrome	Patent ductus arteriosus, Cutis laxa, Camptodactyly, Limited knee extension, Joint contracture of...	OMIM:277590
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarc...	OMIM:617088
Toriello-Carey Syndrome	Wide anterior fontanel, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal ...	ORPHA:3338
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Dry skin, Acute lymphoblastic leukemia, Joi...	OMIM:280000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Biotinidase Deficiency	Skin rash, Lethargy, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Coronal craniosynostosis	ORPHA:2095
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pa...	OMIM:163950
Cranioectodermal Dysplasia 3	Joint laxity, Sagittal craniosynostosis, Cutis laxa, Dry skin, Peripheral pulmonary artery stenosis	OMIM:614099
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ...	OMIM:618460
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Radioulnar synostosis, Wrist flexion contracture, Peripheral pulmonary arte...	ORPHA:436003
Restrictive Dermopathy 1	Atrial septal defect, Limb joint contracture, Wide anterior fontanel, Patent ductus arteriosus, F...	OMIM:275210
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, A...	ORPHA:251066
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Atelectasis, Flexion contracture, Cardiomyopathy, Reduced left ventricular ejection fra...	ORPHA:258
Coffin-Siris Syndrome	Joint laxity, Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tr...	ORPHA:1465
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Isolated Complex I Deficiency	Lethargy, Hypertrophic cardiomyopathy	ORPHA:2609
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Decreased circulating antibody lev...	ORPHA:221139
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Autoimmunity	ORPHA:36397
Multiple Endocrine Neoplasia Type 2	Joint laxity, Neoplasm of the lung, Pallor, Palpitations, Hypertensive crisis, Hypertension assoc...	ORPHA:653
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Citrullinemia, Classic	Lethargy, Stroke	OMIM:215700
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hypertr...	OMIM:269700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Joint laxity, Osteomyelitis, Bicuspid aortic valve, Ventricular septal defe...	OMIM:619475
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema nodosum, Decre...	OMIM:615688
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Oligohydramnios	ORPHA:177907
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus art...	ORPHA:1662
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Hyperextensibility of the finger joints, Vertebral fusion, Craniosynostosis...	OMIM:213980
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Cardiac conduct...	ORPHA:353281
Neonatal Marfan Syndrome	Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur...	ORPHA:284979
Lethal Congenital Contracture Syndrome 1	Neonatal death	OMIM:253310
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth...	ORPHA:31202
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Patent ductus arteriosus, Flexion contracture, Abnormal heart mor...	ORPHA:487796
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl...	OMIM:100300
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc...	ORPHA:90291
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Valvular pulmonary stenosis, Atrial septal...	OMIM:300707
Noonan Syndrome	Abnormal pulmonary valve morphology, Abnormality of the spleen, Pulmonary artery stenosis, Joint ...	ORPHA:648
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Stroke	OMIM:311250
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Rubinstein-Taybi Syndrome 1	Accessory spleen, Joint laxity, Ventricular septal defect, Respiratory tract infection, Wide ante...	OMIM:180849
Knobloch Syndrome 2	Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph...	OMIM:618458
Osteogenesis Imperfecta, Type Vii	Osteopenia, Recurrent fractures, Hypoplastic pulmonary veins, Multiple prenatal fractures, Wide a...	OMIM:610682
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Craniofacial osteosclerosis,...	OMIM:300373
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Hepatic steatosis	OMIM:619934
Mitochondrial Complex I Deficiency, Nuclear Type 1	Splenomegaly, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Lethargy	OMIM:252010
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Bradyc...	ORPHA:94093
Whipple Disease	Hyponatremia, Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis	ORPHA:3452
Aymé-Gripp Syndrome	Pericarditis, Craniosynostosis, Pericardial effusion, Patent ductus arteriosus, Limitation of joi...	ORPHA:1272
Singleton-Merten Syndrome 1	Osteopenia, Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestiv...	OMIM:182250
Frontometaphyseal Dysplasia 2	Hip contracture, Bicuspid aortic valve, Elbow contracture, Patent ductus arteriosus, Ulcerative c...	OMIM:617137
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Patent ductus arteriosus, Unilateral lung agenesis	OMIM:617140
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus	OMIM:602482
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Patent ductus arteriosus, Reduced bone mineral densit...	ORPHA:84
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Cardiac myxoma, Pyelonephritis, Hypertension, Supraventricular tachycar...	OMIM:181270
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis	ORPHA:1131
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Polyhydramnios, Patent ductus arteriosus, Aortic valve stenosis, Oligohydra...	ORPHA:464311
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:613457
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Eczema, Patent duct...	ORPHA:464306
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
10Q22.3Q23.3 Microdeletion Syndrome	Joint hyperflexibility, Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve ...	ORPHA:276413
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Death in infancy, Cerebral hemorrhage	OMIM:620300
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Elliptocytosis, Abnormal aortic valve morphology	ORPHA:86818
Arboleda-Tham Syndrome	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Craniosynostos...	OMIM:616268
Abcd Syndrome	Neonatal death	OMIM:600501
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Mckusick-Kaufman Syndrome	Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Hypoplastic left heart, A...	ORPHA:2473
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Joint stiffness, Pericardial effusion, Patent ductus...	OMIM:139210
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Joint hypermobility, Hematochezia, R...	OMIM:619575
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensibility at elbow, Unilateral lung agenesis, Transient ischemic attack, Sagittal cranio...	ORPHA:500150
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Exocrine pancreatic insufficiency, Patent duct...	ORPHA:508488
Smith-Lemli-Opitz Syndrome	Polyhydramnios, Increased nuchal translucency, Abnormality of the gallbladder, Abnormal lung loba...	ORPHA:818
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylope...	ORPHA:538
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in b...	OMIM:233450
Ramos-Arroyo Syndrome	Respiratory distress, Patent ductus arteriosus, Xerostomia	ORPHA:1051
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Ventricular septal defect, Patent ductus arteriosus, Osteoporosis, Oste...	OMIM:102500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Persistent left superior vena cava, Transposition of the great arteries	OMIM:314390
Glycerol Kinase Deficiency	Lethargy, Osteoporosis, Pathologic fracture, Chronic pancreatitis	OMIM:307030
Hallermann-Streiff Syndrome	Recurrent fractures, Congestive heart failure, Uveitis, Reduced bone mineral density, Tracheomalacia	ORPHA:2108
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios	ORPHA:1112
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Abnormal heart valve morpho...	ORPHA:31204
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy	OMIM:618835
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Joint laxity, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ven...	OMIM:612474
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy	OMIM:618839
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Steatorrhea	ORPHA:92050
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormality of the spleen, Patent ductus arteriosus, Dilated cardiomyopathy...	ORPHA:1606
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Polyhydramnios, Splenomegaly, Patent ductus arterios...	OMIM:312870
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi...	ORPHA:2796
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Dry skin, Bradycardia	OMIM:218700
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the...	ORPHA:29207
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Gaisböck Syndrome	Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Cholecystitis, H...	ORPHA:90041
Cryoglobulinemic Vasculitis	Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr...	ORPHA:264450
Turnpenny-Fry Syndrome	Aortic regurgitation, Recurrent respiratory infections, Joint hypermobility, Wide anterior fontan...	OMIM:618371
Localized Scleroderma	Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge...	ORPHA:90289
Multiple Endocrine Neoplasia Type 1	Hematemesis, Shortened QT interval, Osteolysis, Depression, Melena, Reduced bone mineral density,...	ORPHA:652
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterio...	ORPHA:438213
Shigellosis	Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Abnormal blood ion concentration, Uveitis, Ulc...	ORPHA:810
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomeg...	OMIM:300967
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia	ORPHA:140952
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Elevated hepatic transaminase, Aortic arch aneurysm, Myocardial infarction...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, Aortic arch aneurysm, Myocardial infarction...	ORPHA:99228
Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, Aortic arch aneurysm, Myocardial infarction...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Elevated hepatic transaminase, Aortic arch aneurysm, Myocardial infarction...	ORPHA:881
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal ...	ORPHA:466791
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,...	OMIM:301030
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Anemia	ORPHA:329971
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Cardiac conduct...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Cardiac conduct...	ORPHA:353277
African Trypanosomiasis	Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Splenomegaly, Congestive heart failure, Hepat...	ORPHA:3385
Distal Deletion 12Q	Late onset atopic dermatitis, Wide anterior fontanel, Patent ductus arteriosus, Elbow flexion con...	ORPHA:96149
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse	OMIM:104350
Charge Syndrome	Lymphopenia, Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial s...	OMIM:214800
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob...	ORPHA:89936
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Neu-Laxova Syndrome 1	Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of the great arteries, Pulmon...	OMIM:256520
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:226307
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus	OMIM:616462
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Inc...	ORPHA:228123
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Patent duct...	ORPHA:3047
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Hepatitis	ORPHA:415
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Neonatal respiratory distress, Apnea, Portal hypertension, Fetal ascites, Ascending aorta hypopla...	OMIM:619503
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Anemia, Elliptocytosis, Patent foramen ovale, Joint hypermobility	OMIM:300990
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Osteomalacia, Recurrent fractures, Joint stiffness, Atelectasis...	ORPHA:534
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture of finger, Wide...	ORPHA:96334
Systemic Lupus Erythematosus	Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/SS-B antibody posit...	ORPHA:536
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Omodysplasia 1	Ventricular septal defect, Limited knee flexion, Pulmonary artery stenosis, Limited hip movement,...	OMIM:258315
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation of the large intestine, Hyp...	OMIM:232240
Alkaptonuria	Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join...	ORPHA:56
Carpenter Syndrome 2	Tricuspid regurgitation, Dextrocardia, Craniosynostosis, Situs inversus totalis, Patent ductus ar...	OMIM:614976
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri...	ORPHA:261337
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm...	ORPHA:324625
Argininosuccinic Aciduria	Lethargy	OMIM:207900
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Patent ductus arteriosus after birth at term, Pulmonic stenosis, Prolonge...	ORPHA:529962
Progeroid Short Stature With Pigmented Nevi	Bicuspid aortic valve, Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis, Aort...	OMIM:176690
Knobloch Syndrome	Joint hyperflexibility, Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Cardiomyocyte mitochondrial prolif...	ORPHA:423
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Polyhydramnios, Asthma, Patent ductus arteriosus, Cephalohematoma, Oligohydramnios	OMIM:619841
Treacher-Collins Syndrome	Patent ductus arteriosus, Hypoplasia of the thymus, Respiratory insufficiency	ORPHA:861
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Patent ductus arteriosus, Radioulnar synostosis, Tetralogy of Fallot, ...	OMIM:154400
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Joint laxity, Porta...	OMIM:194050
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Mowat-Wilson Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosi...	OMIM:235730
Microphthalmia, Syndromic 3	Vertebral fusion, Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Peters Plus Syndrome	Patent ductus arteriosus, Bicuspid pulmonary valve, Spina bifida occulta, Abnormal pulmonary vein...	ORPHA:709
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Mitral regurgitation, Macro...	OMIM:619127
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:616975
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Reduced bone mineral de...	OMIM:616682
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort...	ORPHA:138
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Sarcoidosis	Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Cerebrocostomandibular Syndrome	Ventricular septal defect, Calcaneal epiphyseal stippling, Patent ductus arteriosus, Elbow flexio...	OMIM:117650
Mednik Syndrome	Neonatal death, Death in infancy, Death in childhood	OMIM:609313
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Right unicoronal synostosis, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal de...	ORPHA:261552
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Eczema, Pulmonary artery sling, Coronary sinus enlargement, Patent for...	OMIM:619268
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Osteo...	ORPHA:459070
Aromatase Deficiency	Enlarged polycystic ovaries, Hepatic steatosis	ORPHA:91
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, R...	ORPHA:480880
Sacral Agenesis With Vertebral Anomalies	Neonatal death	OMIM:615709
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis	ORPHA:342
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Recurrent fractures, Asplenia, Patent ductus arter...	ORPHA:2152
Giant Cell Arteritis	Arthritis, Pericarditis, Joint stiffness	ORPHA:397
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	OMIM:613355
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Autoimmunity, Keratitis, Arthritis, Inflammation of the large intestine, Conju...	ORPHA:906
Sotos Syndrome	Joint laxity, Atrial septal defect, Hip contracture, Ventricular septal defect, Craniosynostosis,...	ORPHA:821
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Coffin-Siris Syndrome 1	Joint laxity, Recurrent respiratory infections, Ventricular septal defect, Patent ductus arterios...	OMIM:135900
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot	OMIM:619869
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Psoriasiform dermatitis, Abnormal heart morphology	ORPHA:2237
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dil...	ORPHA:64
Multiple Osteochondromas	Pseudoaneurysm, Pneumothorax, Hemothorax	ORPHA:321
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta	OMIM:619480
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death	OMIM:619362
Chand Syndrome	Atelectasis, Dry skin	ORPHA:1401
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Patent ductus arteriosus, Flexion contracture, Camptodactyly	OMIM:617561
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Abnormal cardiac septum morphology, Limited elbow extension	ORPHA:85276
Glycine Encephalopathy	Lethargy	ORPHA:407
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Increased circulating interferon...	ORPHA:51
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Carney Complex	Congestive heart failure, Cardiac myxoma, Hypertension, Dilatation of the cerebral artery, Stroke...	ORPHA:1359
Pallister-Hall Syndrome	Patent ductus arteriosus, Abnormal lung lobation, Respiratory insufficiency, Coarctation of aorta...	ORPHA:672
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Knobloch Syndrome 1	Patent ductus arteriosus, Spina bifida occulta, Joint hypermobility	OMIM:267750
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Corneal ne...	ORPHA:2363
Peters-Plus Syndrome	Bilobate gallbladder, Polyhydramnios, Patent ductus arteriosus, Biliary tract abnormality, Pulmon...	OMIM:261540
Vater/Vacterl Association	Ventricular septal defect, Patent ductus arteriosus, Radioulnar synostosis, Transposition of the ...	OMIM:192350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Pineoblastoma	Lethargy	ORPHA:251909
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Polyhydramnios, Patent ductus arteriosus, Biliary tract abnormality, Stillbirth	OMIM:268300
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hepatic steatosis	OMIM:619321
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Joint hypermobility	OMIM:619522
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hepatic steatosis, Pulmonic stenosis	ORPHA:3455
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis	OMIM:161700
Pallister-Killian Syndrome	Edema of the dorsum of feet, Polyhydramnios, Patent ductus arteriosus, Coarctation of aorta, Apne...	OMIM:601803
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,...	ORPHA:707
Dermatomyositis	Pericarditis, Autoimmunity, Myocarditis, Arthritis, Chondrocalcinosis	ORPHA:221
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Right unicoronal synostosis, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary va...	ORPHA:261537
Craniofacial Microsomia 1	Ventricular septal defect, Block vertebrae, Patent ductus arteriosus, Coarctation of aorta, Right...	OMIM:164210
Mucopolysaccharidosis Type 2, Severe Form	Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Arthritis, Flexion contracture, Camptodactyly of finger, Limitation of joint mobility	ORPHA:217093
Tetrasomy 9P	Joint dislocation, Myositis, Pericarditis, Systemic lupus erythematosus, Arthritis	ORPHA:3310
Choreoacanthocytosis	Arthritis, Elevated circulating creatine kinase concentration	ORPHA:2388
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco...	ORPHA:99921
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Joint stiffness	ORPHA:93

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 Ptger4

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 Ptger4.

No publications found that use IMPC mice or data for Ptger4.

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

MGI Allele	Allele Type	Produced
Ptger4^{tm372756(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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