Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Syndactyly, Short stature, Pallor |
OMIM:615631 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... |
ORPHA:363705 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... |
OMIM:620070 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... |
OMIM:619487 |
Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Talipes equinovarus, Pallor, Congenital finger flexion contractures, Adducted thumb |
ORPHA:536516 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth r... |
OMIM:609053 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,... |
ORPHA:77259 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy |
OMIM:212065 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... |
ORPHA:1272 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l... |
OMIM:139210 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
Alg9-Cdg |
|
Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp... |
ORPHA:79328 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Mitral valve prolapse |
ORPHA:536532 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax... |
ORPHA:2136 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Oligoh... |
OMIM:615846 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Intrauterine growth retar... |
OMIM:227645 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the... |
OMIM:105650 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:600901 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Gitelman Syndrome |
|
Pericardial effusion, Delayed puberty |
ORPHA:358 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:227650 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Myocarditis, Ascites |
ORPHA:99827 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Pal... |
OMIM:619488 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... |
OMIM:227646 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... |
ORPHA:51608 |
Diamond-Blackfan Anemia |
|
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Growth delay, Pal... |
ORPHA:124 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormal metaphysis morphology, Pallor, Bowing of the long bones |
ORPHA:667 |
Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Clubbing, Pallor |
ORPHA:3260 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Pmm2-Cdg |
|
Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy |
ORPHA:79318 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... |
OMIM:616843 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Pulmonary venous hypertension, Intermi... |
ORPHA:3202 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |