Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Cognitive impa... |
ORPHA:673 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia,... |
OMIM:237800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri... |
ORPHA:766 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid... |
OMIM:620010 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Micropenis, Neonatal hyperbilirubinemia, Retinal degeneration |
ORPHA:3363 |
Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Hepatomegaly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria |
ORPHA:3111 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Renal i... |
ORPHA:713 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increa... |
OMIM:616278 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Metaphyseal widening, Optic atrophy, C... |
OMIM:617303 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Prog... |
ORPHA:251004 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... |
OMIM:300908 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Hepatomegaly |
OMIM:214900 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Spleno... |
ORPHA:464329 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Hepatomegaly, Renal insufficiency, Tapered toe, Elevated circulat... |
OMIM:608836 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, C... |
ORPHA:64743 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hypop... |
OMIM:208500 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polydactyly, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... |
OMIM:613091 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Hyperlipidemia, Ne... |
OMIM:232220 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, H... |
ORPHA:1667 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Splenomegaly, Leukoc... |
OMIM:259720 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvis bone, Hammer... |
OMIM:608022 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Microcyt... |
ORPHA:168569 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Hijazi-Reis Syndrome |
|
Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst... |
ORPHA:79303 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Femoral bowing, Thin ri... |
OMIM:618188 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia, Hepatomegaly |
OMIM:235555 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... |
ORPHA:505248 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:613404 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Abnormality... |
ORPHA:848 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Proteinuria, Progressive neurologic deterioration, A... |
ORPHA:247691 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, Aminoacid... |
OMIM:208085 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Femoral bowing, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia |
OMIM:152800 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Abno... |
ORPHA:500095 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... |
ORPHA:90794 |
Idiopathic Congenital Hypothyroidism |
|
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbi... |
ORPHA:95717 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalize... |
OMIM:227810 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Coxa valga, Cardiomegaly... |
OMIM:252500 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... |
OMIM:314390 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:601847 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abscess, Renal cyst, Membranous nephropathy, Hyperbilirubinemia, Sple... |
ORPHA:400 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormality of the lower urinary tract, Hyperbilirubinemia |
ORPHA:101009 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticulocytosis, He... |
ORPHA:14 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Anterior rib cupping, Metaphyseal sclerosis, ... |
OMIM:260400 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... |
ORPHA:276 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:211600 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin... |
ORPHA:464321 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Reticulocytopenia, Hypercalci... |
OMIM:557000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute kidney injury... |
ORPHA:542323 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... |
ORPHA:79259 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine... |
OMIM:613070 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Hyperbilirubinemia |
OMIM:619075 |
Lathosterolosis |
|
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... |
OMIM:607330 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... |
ORPHA:447 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... |
OMIM:251880 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, C... |
ORPHA:73272 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... |
ORPHA:731 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Metatarsus adductus, Opti... |
OMIM:614866 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope... |
ORPHA:163979 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly, Hypocholesterolemia |
OMIM:607765 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Sandal gap, Hypospadias, Postaxial polydactyly, Preaxial polydac... |
OMIM:612651 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc... |
OMIM:617575 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato... |
OMIM:618278 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Caroli Syndrome |
|
Hepatomegaly, Liver abscess, Abnormality of the kidney, Hypersplenism, Conjugated hyperbilirubine... |
ORPHA:480520 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomat... |
OMIM:608885 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color |
ORPHA:234 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Abnormal circula... |
ORPHA:95716 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Optic atrophy, Elevated urine fumar... |
OMIM:606812 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Graft Versus Host Disease |
|
Hemophagocytosis, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... |
OMIM:610629 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hyperbilirubinemia, Hepatomegaly |
OMIM:613812 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Clubbing, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub... |
OMIM:614886 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Clinodactyly, Neonatal hyperbilirubinemia, Attention deficit hyperactivity d... |
ORPHA:293939 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Foot polydactyly, Nephrobl... |
ORPHA:276280 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Stomatocytosis, ... |
ORPHA:168577 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Hardikar Syndrome |
|
Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections,... |
OMIM:301068 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Syndactyly, Hepatomegaly, Hypospa... |
OMIM:619488 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Sandal gap, Broad hallux, Tapered finger, Small hand, Genu va... |
OMIM:615873 |
Caroli Disease |
|
Hepatomegaly, Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Polycysti... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Hepatomegaly, Renal insufficiency, Splenomegaly, Postaxial hand polydactyly, Renal cy... |
OMIM:613610 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Flared metaphysis, Broad ischia, Sh... |
ORPHA:79328 |
Ogden Syndrome |
|
Global glomerulosclerosis, Congenital hip dislocation, Sandal gap, Broad hallux, Metatarsus valgu... |
OMIM:300855 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Hype... |
ORPHA:3008 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Lymphopenia |
OMIM:613471 |
Autoimmune Hepatitis |
|
Splenomegaly, Glomerulonephritis, Increased total bilirubin |
ORPHA:2137 |
Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, ... |
OMIM:616100 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Progressive neurologic deterioration, Delayed epiphyseal ossification, Preaxial polydactyly, Rena... |
OMIM:210710 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Proteinuria, Nephrotic range proteinuria, Microscopic hematuria, ... |
ORPHA:1830 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Hypospadias, Short greater sc... |
OMIM:312870 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubin... |
ORPHA:348 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron conce... |
OMIM:619991 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Dicarboxylic aciduria, Increased circulating very lo... |
OMIM:614887 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... |
OMIM:609049 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Imbalanced hemoglobin synthesis,... |
ORPHA:330015 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... |
OMIM:616005 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidne... |
OMIM:306955 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... |
ORPHA:93552 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Thrombocytopen... |
OMIM:617053 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Finger swell... |
OMIM:617591 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector memory T cells, Hypoalb... |
ORPHA:90362 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating f... |
ORPHA:567983 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Elevated ... |
ORPHA:124 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Attention defici... |
ORPHA:90674 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Overlapping toe, Hypospadias, Clubbing of toes, Short foot... |
ORPHA:163956 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short attention span, Hypospadias, Genu valgum, Hematuria, Coloboma, Micropenis, Diminished abili... |
OMIM:619475 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... |
ORPHA:2686 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... |
OMIM:612561 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Increased circul... |
ORPHA:90673 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short toe, HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly, Dark yellow urine, Hepatomegaly |
ORPHA:30391 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Anemia, Vitreous hemorrhage, Attention deficit hyperacti... |
OMIM:620185 |
Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le... |
ORPHA:99829 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypoplasia of the... |
OMIM:242900 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Unilateral renal agenesis, Ectopic kidney, Renal hypopl... |
OMIM:616541 |
Pgm3-Cdg |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... |
ORPHA:443811 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Coloboma, Hypoalbuminemia, Syndactyly, Hepatomegaly, Elevated circ... |
OMIM:619534 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma... |
ORPHA:549 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy... |
OMIM:105650 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess... |
OMIM:612541 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Short hallux, Unilateral renal agenesis, Conjugated hyperbilirubinemia... |
OMIM:620305 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Agammaglobulinemia, X-Linked |
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Recurrent urinary tract infections, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:300755 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Broad hallux, Aplasia of the thymus, Optic disc coloboma, Unconjugated hyperbilirubinemia, Clinod... |
OMIM:620186 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Pigmentary retinopathy... |
OMIM:618460 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Mirizzi Syndrome |
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Dark urine, Hyperbilirubinemia |
ORPHA:521219 |
Methemoglobinemia And Ambiguous Genitalia |
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Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Acquired Methemoglobinemia |
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Methemoglobinemia, Confusion |
ORPHA:464453 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypospadias, Renal agenesis, Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Hypo... |
OMIM:301040 |
Generalized Pustular Psoriasis |
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Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:247353 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... |
OMIM:607944 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, 2-3 toe syndactyly, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hy... |
OMIM:618280 |
Vici Syndrome |
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Left ventricular hypertrophy, Macular atrophy, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopen... |
ORPHA:508542 |
Oculo-Palato-Cerebral Syndrome |
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Short foot, Retinal detachment, Remnants of the hyaloid vascular system, Small hand |
ORPHA:2714 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyp... |
OMIM:613658 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Acromelic Frontonasal Dysostosis |
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Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Thymoma |
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Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Congenital Disorder Of Glycosylation, Type Iim |
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Ureteropelvic junction obstruction, Vesicovaginal fistula, Rod-cone dystrophy, Neonatal hyperbili... |
OMIM:300896 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Ataxia-Telangiectasia |
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Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Acute lymphobl... |
OMIM:208900 |
Hennekam Syndrome |
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Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmonary lymphangiecta... |
ORPHA:2136 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Syndromic Diarrhea |
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Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... |
ORPHA:84064 |
Primary Sjögren Syndrome |
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Normocytic anemia, Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Lymphadeno... |
ORPHA:289390 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone marrow hyp... |
OMIM:127550 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... |
ORPHA:637 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Marburg Hemorrhagic Fever |
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Reticulocytosis, Lymphopenia, Renal insufficiency, Elevated circulating creatine kinase concentra... |
ORPHA:99826 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... |
ORPHA:906 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
Charge Syndrome |
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Hand monodactyly, Coloboma, Hypocalcemia, Micropenis, Iris coloboma, Aplasia/Hypoplasia of the th... |
OMIM:214800 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, Hypospadia... |
OMIM:300166 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conj... |
OMIM:243800 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Remna... |
OMIM:619539 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |