Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Endoca... |
ORPHA:60041 |
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 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Pallor |
ORPHA:90064 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor |
OMIM:613561 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor |
ORPHA:49827 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
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 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
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 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor |
OMIM:600462 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema |
ORPHA:329971 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor, Edema, Dehydration |
ORPHA:20 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Sepsis In Premature Infants |
|
Petechiae, Pallor, Edema, Purpura |
ORPHA:90051 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Fumarase Deficiency |
|
Pallor, Ascites, Perimembranous ventricular septal defect, Polyhydramnios |
OMIM:606812 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Skin ulcer, Pallor, Hypoplasia of the musculature |
ORPHA:231226 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Facial hypotonia, Pallor, Dehydration |
ORPHA:2131 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Skin ulcer, Pallor, Hypoplasia of the musculature |
ORPHA:231214 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Pearson Marrow-Pancreas Syndrome |
|
Pallor, Erythema, Hydrops fetalis, Dehydration |
OMIM:557000 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Angioedema, Dilated cardiomyopathy, Myocardial eosinophilic infiltration... |
ORPHA:3260 |
Von Hippel-Lindau Disease |
|
Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb... |
ORPHA:892 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Pallor, Pulmonary edema |
ORPHA:137675 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Myocarditis, Pleural empyema, Pallor, Generalized edema |
ORPHA:544482 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Pallor, Polyhydramnios |
ORPHA:1199 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Atrial s... |
ORPHA:124 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Degcags Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pallor, Pulmonic stenosis, A... |
OMIM:619488 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Small thenar eminence, Pallor, Atrial septal defec... |
OMIM:105650 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemic pallor, Abnormal heart morphology |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Anemic pallor |
OMIM:227645 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Proximal amyotrophy |
ORPHA:653 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Abnormal pulmonary valve morphology |
ORPHA:667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis |
ORPHA:391665 |