Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... |
OMIM:252011 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... |
ORPHA:60041 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Pallor |
ORPHA:90064 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction |
OMIM:616501 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor, Short stature |
ORPHA:49827 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Aplasia/Hypoplasia of the abdominal w... |
ORPHA:3099 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Dilatation of the cerebral artery, Bacterial... |
ORPHA:615 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Pallor |
ORPHA:163596 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Growth delay, Pallor... |
OMIM:600462 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Intrauterine growth re... |
OMIM:253250 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... |
OMIM:256550 |
Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiomegaly, Pericardial effus... |
OMIM:115197 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... |
ORPHA:85451 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Distal amyotrophy, Pallor, Increased variability in muscle fiber dia... |
OMIM:617675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... |
OMIM:208000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed ... |
ORPHA:231226 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed ... |
ORPHA:231214 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly |
OMIM:614473 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, He... |
OMIM:602782 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:616897 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... |
OMIM:617713 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Small thenar eminence, Pallor, Atri... |
OMIM:105650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia... |
ORPHA:96191 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Facial hypotonia, Pallor |
ORPHA:2131 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Short stature, Flexion contracture, Intrauterine growth... |
OMIM:227645 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Growth delay, Pallor, Atrial... |
ORPHA:124 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227646 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Atrial septal def... |
OMIM:619488 |
Von Hippel-Lindau Disease |
|
Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb muscle weakness |
ORPHA:892 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Intrauterine growth... |
OMIM:608013 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Pallor, Cardiomegaly |
ORPHA:137675 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly |
OMIM:268800 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Antenatal intracerebral hemo... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta |
OMIM:614921 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor, Abnormal pulmonary valve morphology |
ORPHA:667 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Umbilical hernia, Cardiomegaly |
OMIM:618143 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Stroke, Cardiomegaly |
OMIM:603903 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Dilatation of the cerebral artery |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... |
ORPHA:365 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular... |
OMIM:300855 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... |
ORPHA:228308 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly |
OMIM:230000 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Umbilical hernia, Hypertrophic cardiomyopat... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Abnormal aortic valve m... |
ORPHA:581 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Proximal amyotrophy |
ORPHA:653 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis |
OMIM:618278 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... |
ORPHA:904 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm, Hypertrophic cardi... |
ORPHA:51 |
Bohring-Opitz Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... |
ORPHA:51608 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Large placenta, Splenomegaly, Umbilical hernia, Hypertrophic cardiomy... |
ORPHA:116 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def... |
ORPHA:3472 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |