Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly |
ORPHA:75563 |
Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613561 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Jaundice, Splenomegaly, Hepatomegaly |
OMIM:615631 |
Beta-Thalassemia |
|
Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
ORPHA:848 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Myelofibrosis |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
OMIM:254450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
Evans Syndrome |
|
Petechiae, Pallor, Jaundice |
ORPHA:1959 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Cholecystitis |
OMIM:266200 |
Leishmaniasis |
|
Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, ... |
ORPHA:507 |
Primary Myelofibrosis |
|
Purpura, Hepatomegaly, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatosplenomega... |
ORPHA:824 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Hepatoce... |
ORPHA:231222 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
OMIM:194380 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated hepatic iron concentration, Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Jaundice, Hepatomegaly |
OMIM:613839 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:90037 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:75564 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Jaundice, Splenomegaly |
ORPHA:90033 |
American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, H... |
ORPHA:231226 |
Hereditary Spherocytosis |
|
Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor |
ORPHA:822 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Letterer-Siwe Disease |
|
Pallor, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly |
OMIM:300908 |
Beta-Thalassemia Major |
|
Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Hepatocellular carcinoma, Hepatic fibrosis, Hepato... |
ORPHA:231214 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic iron concentration, Pallor, Elevated circulating hepatic transaminase concentrat... |
ORPHA:300298 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:348 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Elevated circulating hepatic transaminase concentration |
ORPHA:98870 |
Sepsis In Premature Infants |
|
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Pallor |
ORPHA:90051 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly |
ORPHA:331206 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circu... |
OMIM:246450 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... |
ORPHA:20 |
Fanconi Anemia, Complementation Group I |
|
Pallor |
OMIM:609053 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex... |
OMIM:557000 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
ORPHA:33226 |
Beta-Ketothiolase Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:134 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fumarase Deficiency |
|
Pallor, Intrahepatic cholestasis, Hepatic failure |
OMIM:606812 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Pallor, Hepatomegaly |
OMIM:277400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Alg3-Cdg |
|
Decreased liver function, Neural tube defect |
ORPHA:79321 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Pallor |
OMIM:301310 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit... |
ORPHA:3260 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Pallor, Hepatomegaly |
ORPHA:137675 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:667 |
Incontinentia Pigmenti |
|
Pallor, Erythema |
OMIM:308300 |
Isolated Posterior Meningocele |
|
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele |
ORPHA:268810 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Von Hippel-Lindau Disease |
|
Pallor, Neoplasm of the pancreas, Pancreatic cysts, Pancreatic islet cell adenoma |
ORPHA:892 |
Degcags Syndrome |
|
Hepatomegaly, Cholestasis, Abnormal spleen morphology, Hepatosplenomegaly, Pallor |
OMIM:619488 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Anemic pallor, Annular pancreas |
OMIM:227646 |
Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Neoplasm of the liver |
ORPHA:653 |
Diamond-Blackfan Anemia 1 |
|
Pallor, Spina bifida occulta |
OMIM:105650 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor |
OMIM:227645 |
Diamond-Blackfan Anemia |
|
Pallor |
ORPHA:124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Schinzel-Giedion Syndrome |
|
Hepatoblastoma, Annular pancreas, Neural tube defect, Umbilical hernia |
ORPHA:798 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor, Hepatomegaly |
ORPHA:99125 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93924 |