Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Postnatal growth retardation, Tricuspid regurgitation, Mitral regurg... |
ORPHA:75249 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... |
ORPHA:555874 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement... |
OMIM:616028 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... |
OMIM:619313 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Atria... |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... |
ORPHA:99104 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... |
OMIM:616501 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... |
ORPHA:90064 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy |
OMIM:613561 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Dry skin, Mitral regurgitation, Right bundle branch block, Hypertension, Left ... |
OMIM:614008 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276556 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... |
OMIM:620233 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276580 |
Rheumatic Fever |
|
Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A... |
ORPHA:3099 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Achalasia, Myocarditis |
ORPHA:3386 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Danon Disease |
|
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor, Torticollis |
ORPHA:71518 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pallor, Pericarditis |
ORPHA:163596 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... |
OMIM:609053 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor |
ORPHA:99931 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor |
ORPHA:822 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Delayed puberty, Scapular wing... |
OMIM:600462 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive... |
ORPHA:231226 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive... |
ORPHA:231214 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor |
OMIM:615631 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Petechiae |
ORPHA:1959 |
Von Hippel-Lindau Disease |
|
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Pallor, Distal lower limb muscle weakne... |
ORPHA:892 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Hypotension, Dilated cardiomyopathy, Pallor |
ORPHA:20 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Short stature, Growth ... |
OMIM:617675 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Facial hypot... |
ORPHA:2131 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature, Flexion... |
OMIM:227645 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Intrauterine growth retardation, Pallor, Ventricular septal defect, Atr... |
OMIM:105650 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Primary Myelofibrosis |
|
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura |
ORPHA:824 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Fanconi Anemia, Complementation Group E |
|
Abnormal heart morphology, Anemic pallor, Short stature |
OMIM:600901 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
Fanconi Anemia, Complementation Group A |
|
Abnormal heart morphology, Anemic pallor, Short stature |
OMIM:227650 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90037 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr... |
ORPHA:3260 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Congestive heart failure |
ORPHA:75564 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
Diamond-Blackfan Anemia |
|
Abnormality of the thenar eminence, Abnormal heart morphology, Pallor, Ventricular septal defect,... |
ORPHA:124 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
Esophageal Atresia |
|
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect |
ORPHA:1199 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Abnormal pulmonary valve morphology, Pallor, Growth delay |
ORPHA:667 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90033 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor, Melena |
ORPHA:98870 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Pallor |
OMIM:301310 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Pallor, Delayed pube... |
ORPHA:91347 |
Waldenström Macroglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Retinal hem... |
ORPHA:33226 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Degcags Syndrome |
|
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Dysplas... |
OMIM:619488 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Sepsis In Premature Infants |
|
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura |
ORPHA:90051 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:29072 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure |
ORPHA:231222 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertensive crisis, Hypertension, Pallor |
ORPHA:544482 |
Fanconi Anemia, Complementation Group D2 |
|
Abnormal heart morphology, Anemic pallor, Short stature |
OMIM:227646 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Pallor |
ORPHA:134 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Shwachman-Diamond Syndrome 1 |
|
Short stature, Myocardial necrosis |
OMIM:260400 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Cardiac arrest, Pallor |
OMIM:246450 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Sheehan Syndrome |
|
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope, Pallor |
ORPHA:98849 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor |
ORPHA:91349 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Pituitary Apoplexy |
|
Hypotension, Hypertension, Pallor |
ORPHA:95613 |
Prolactinoma |
|
Hypotension, Delayed puberty, Pallor |
ORPHA:2965 |
Adenohypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95512 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Panhypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95513 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Anemic pallor, Palpitations |
ORPHA:86839 |
Incontinentia Pigmenti |
|
Short stature, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Proxima... |
ORPHA:653 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy, Skin ulcer |
ORPHA:68 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Growth delay |
ORPHA:329971 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Neuroblastoma |
|
Anemic pallor, Hypertension |
ORPHA:635 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... |
ORPHA:391665 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Muscular dystrophy, Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pulmonary hemorrhage, Pallor |
OMIM:233450 |