Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... |
OMIM:618495 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased circulating IgG2 lev... |
OMIM:615897 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... |
ORPHA:673 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria |
ORPHA:33574 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, In... |
OMIM:618982 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infection... |
OMIM:613101 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising susceptibility, HbH hemogl... |
ORPHA:231401 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertri... |
OMIM:607616 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester... |
OMIM:245900 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... |
OMIM:274150 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Abnormal blood ion concentration, Iron deficiency anemia,... |
ORPHA:37042 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Cutaneous photosensitivity |
OMIM:618015 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Melanocytic nevus, Anemia, Abnormal cardiac septum morphology, Decreased sku... |
ORPHA:3319 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... |
ORPHA:60026 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:615934 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase |
ORPHA:75563 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual interstitial p... |
OMIM:614742 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper... |
ORPHA:713 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot... |
OMIM:616457 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... |
ORPHA:133 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria, Anemia |
OMIM:238700 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:98813 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... |
OMIM:617021 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Persis... |
OMIM:619510 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Meningitis, Increased circulating IgE level, Hypereo... |
OMIM:212050 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria |
OMIM:602079 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneous photo... |
ORPHA:79278 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
Amme Complex |
|
Hematuria, Elliptocytosis |
OMIM:300194 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... |
ORPHA:231226 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Dil... |
OMIM:618805 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... |
OMIM:608971 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cutaneous photosensitivity, Cholelithiasis |
OMIM:300752 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis, Pallor |
OMIM:607578 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... |
ORPHA:139402 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... |
OMIM:277410 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J... |
ORPHA:858 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... |
OMIM:604273 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate... |
ORPHA:79126 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Hemolytic anemia, Jaundice |
OMIM:301015 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam... |
OMIM:260400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Leukocytosis, Increased DLCO,... |
ORPHA:90060 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ... |
ORPHA:108 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
8P11.2 Deletion Syndrome |
|
Splenomegaly, Hemolytic anemia, Hypoplasia of penis, Spherocytosis |
ORPHA:251066 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... |
OMIM:127550 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... |
OMIM:612714 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Chronic oral candidiasis, ... |
OMIM:608233 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Eosinophilia, Pneumo... |
ORPHA:169160 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Galac... |
OMIM:230350 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr... |
ORPHA:90038 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... |
OMIM:178550 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Cernunnos-Xlf Deficiency |
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Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
Common Variable Immunodeficiency |
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Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
Dysplasia Of Head Of Femur, Meyer Type |
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Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency, Common Variable, 3 |
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Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Tularemia |
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Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade... |
ORPHA:3392 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... |
OMIM:613011 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Thanatophoric Dysplasia, Glasgow Variant |
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Anemia, Hepatosplenomegaly |
OMIM:273680 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Mcleod Syndrome |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Mixed Connective Tissue Disease |
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Hemolytic anemia, Hepatomegaly, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastr... |
ORPHA:809 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
Whim Syndrome 1 |
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Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Majeed Syndrome |
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Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc... |
ORPHA:77297 |
Galactose Epimerase Deficiency |
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Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Myelolymphatic Insufficiency |
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Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid... |
ORPHA:57 |
Immunodeficiency 62 |
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Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Cystic Echinococcosis |
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Abnormal peritoneum morphology, Abnormality of the testis size, Peritoneal abscess, Biliary tract... |
ORPHA:400 |
Immunodeficiency, Common Variable, 7 |
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Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Methylcobalamin Deficiency Type Cble |
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Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi... |
ORPHA:2169 |
Lathosterolosis |
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Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Agammaglobulinemia, X-Linked |
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Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunoglobulin A Deficiency 2 |
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Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... |
OMIM:259720 |
Lcat Deficiency |
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Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... |
ORPHA:650 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Lethal Congenital Contracture Syndrome 3 |
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Neonatal death |
OMIM:611369 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Selective Igm Deficiency |
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Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency 11A |
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Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Thrombocytopenia 2 |
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Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
Sarcoidosis, Susceptibility To, 2 |
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Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea,... |
OMIM:612387 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Hypercholanemia, Familial, 2 |
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Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... |
OMIM:618165 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia |
OMIM:619013 |
Ghosal Hematodiaphyseal Dysplasia |
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Splenomegaly, Anemia |
ORPHA:1802 |
Acatalasemia |
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Vitiligo, Reduced catalase level, Microcytic anemia |
ORPHA:926 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death |
OMIM:226735 |
Agammaglobulinemia 10, Autosomal Dominant |
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Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Hepatomegaly, Hypochromic microcytic anemia |
OMIM:619423 |
Ataxia-Pancytopenia Syndrome |
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Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Acanthocytosis |
OMIM:200150 |
Refractory Anemia |
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Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 23 |
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Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos... |
OMIM:615816 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,... |
ORPHA:49041 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
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Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros... |
OMIM:614743 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
Short Stature With Microcephaly And Distinctive Facies |
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Anisopoikilocytosis, Anemia |
OMIM:615789 |
Hyper-Igd Syndrome |
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Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Jaundice, Familial Obstructive, Of Infancy |
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Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
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Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Death in i... |
OMIM:614876 |
Wiskott-Aldrich Syndrome |
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Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O... |
ORPHA:79301 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... |
ORPHA:289390 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Immunodeficiency 92 |
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Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... |
OMIM:619652 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Isolated Sedoheptulokinase Deficiency |
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Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
3-Methylglutaconic Aciduria, Type V |
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Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... |
OMIM:610198 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... |
OMIM:619126 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep... |
OMIM:603553 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... |
OMIM:617241 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Hyperuricemia, Anemia |
ORPHA:371 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Abnormal concentration of acylcarnitine in the urin... |
ORPHA:51208 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... |
ORPHA:37748 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas... |
ORPHA:71 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Cutaneous photosensitivit... |
OMIM:152700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... |
OMIM:300635 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... |
OMIM:619858 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... |
ORPHA:398124 |
Galactosemia Ii |
|
Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Interstitial Lung Disease 2 |
|
Cough, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcin... |
OMIM:178500 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Ab... |
ORPHA:229717 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia |
OMIM:606893 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... |
OMIM:619774 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Cutaneous photosensitivi... |
OMIM:121300 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Abnormality of the menstrual cycle, Microcytic anemia, Abnormal tricuspid valve mor... |
ORPHA:90308 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia, Renal insufficiency, Anemia, Hepatomegaly |
ORPHA:28 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... |
ORPHA:171 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymp... |
ORPHA:83313 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop... |
ORPHA:540 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... |
OMIM:603554 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Severe infection, Increase... |
OMIM:304790 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent urinar... |
OMIM:620210 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscul... |
ORPHA:66634 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Spotty hyperpigmentation, Microcytic anemia |
ORPHA:324737 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaund... |
ORPHA:290 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Elevated hepatic transaminase, Microcytic anemia |
OMIM:612379 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Hypoproteinemia, Decreased spe... |
OMIM:241600 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Anemia |
ORPHA:510 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Cryptococcal meningitis, A... |
ORPHA:90362 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thromboc... |
OMIM:620365 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci... |
OMIM:616636 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Hypersensitivity pneumonitis, At... |
ORPHA:2902 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Decreased circulating antibody level, Lymphadenopathy, Hepatos... |
OMIM:618261 |
Barth Syndrome |
|
Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Endocardial fibroelast... |
OMIM:302060 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... |
OMIM:601457 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary inter... |
ORPHA:77259 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic... |
OMIM:600462 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:1667 |
Dermatitis Herpetiformis |
|
Urticaria, Erythema, Microcytic anemia |
ORPHA:1656 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Elliptocytosis, Hypercalciuria, Anemia |
OMIM:300990 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, H... |
OMIM:619991 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... |
ORPHA:168577 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia |
ORPHA:54028 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Microcytic anemia |
OMIM:618972 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... |
ORPHA:1304 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
C1Q Deficiency 2 |
|
Chilblains, Pneumocystis carinii pneumonia, Elevated circulating C-reactive protein concentration... |
OMIM:620321 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu... |
OMIM:229100 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Elevated cir... |
OMIM:612852 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Aceruloplasminemia |
|
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... |
OMIM:301078 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Recurrent infecti... |
OMIM:616395 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Renal insufficiency, Elevated circulating creatine kinase concentration, El... |
ORPHA:228302 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... |
OMIM:616050 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, Me... |
ORPHA:781 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Atrial septal defect, Giant cell hepatitis, Ventricular septal def... |
OMIM:208085 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... |
OMIM:105600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Abnormality ... |
ORPHA:381 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... |
OMIM:617638 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Eczema, H... |
OMIM:170100 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Abnormal saliva... |
OMIM:181000 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmona... |
OMIM:613989 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Hemoglobinuria |
OMIM:266120 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Elevated hepatic transaminase, Premature ovarian insufficie... |
ORPHA:2959 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Irregular hyperpigmentation, Hypoplastic anemia, Thromboc... |
OMIM:194350 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas |
ORPHA:2924 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Abnormal lymphocyte proliferation, Recurrent viral infections, Elevated circu... |
OMIM:619573 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... |
ORPHA:3260 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... |
OMIM:615468 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... |
OMIM:174050 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Miscarriage, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, P... |
ORPHA:79312 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood, Anemia |
OMIM:246450 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... |
ORPHA:160 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,... |
OMIM:607625 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Ménétrier Disease |
|
Hypochromic microcytic anemia |
ORPHA:2494 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulatin... |
OMIM:615758 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Thrombocytopen... |
OMIM:214500 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... |
OMIM:617591 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... |
OMIM:617780 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular... |
OMIM:620135 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis |
OMIM:606996 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Reduced 3-phosphoglycerate dehydrogenase activity, Decreased testicular size, Thrombocytopenia, M... |
OMIM:601815 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Pulmonary... |
OMIM:613990 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Hydroxykynureninuria |
|
Jaundice, Aminoaciduria |
OMIM:236800 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:14 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... |
ORPHA:74 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619046 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circu... |
ORPHA:2298 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy... |
ORPHA:97283 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Mediastinal lymphadenopathy, Atelectasis, ... |
ORPHA:2302 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Prolon... |
ORPHA:3166 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
H Syndrome |
|
Microcytic anemia, Osteolysis, Amenorrhea, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypo... |
ORPHA:168569 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithiasis, Thromboc... |
OMIM:618775 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Lymphaden... |
ORPHA:39041 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... |
OMIM:230800 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Jaundice... |
OMIM:263700 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Neutropenia... |
ORPHA:289916 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Death in infancy, Hepatomegaly |
ORPHA:139406 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neutrophil Immunodeficiency Syndrome |
|
Poor wound healing, Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Pustule, Intrarenal abscess, Infectious ... |
ORPHA:68 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, Increased mean c... |
ORPHA:261250 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Anemia |
OMIM:619113 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... |
OMIM:307200 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Microvesicu... |
OMIM:613070 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... |
OMIM:614972 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Dyspnea, Malar rash, Lymphadenopathy, Leukopenia, Ascite... |
ORPHA:93552 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Decreased HDL cholesterol conce... |
ORPHA:77293 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:617049 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Fibrodysplasia Ossificans Progressiva |
|
Anemia |
ORPHA:337 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... |
OMIM:619381 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... |
ORPHA:2686 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... |
ORPHA:251004 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Gray Platelet Syndrome |
|
Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Bruising susceptibil... |
OMIM:139090 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... |
OMIM:306400 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral infections, Elevated circulat... |
ORPHA:420741 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Impaired T cell function, Microscopic hematuria, Minimal change glomerulonephritis, ... |
ORPHA:1830 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, Hypochromi... |
ORPHA:2720 |
Shigellosis |
|
Hyponatremia, Acute colitis, Pneumonia, Abscess, Myocarditis, Leukocytosis, Peritonitis, Sepsis, ... |
ORPHA:810 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,... |
OMIM:224230 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Glycosuria |
ORPHA:589 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... |
ORPHA:158048 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice |
OMIM:262400 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Atrophic ga... |
OMIM:615846 |
Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... |
ORPHA:797 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... |
OMIM:618886 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... |
ORPHA:50918 |
Hermansky-Pudlak Syndrome 4 |
|
Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect |
OMIM:614073 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Hypermelanotic macule, Thrombocytopenia |
OMIM:112200 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... |
ORPHA:88 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia |
OMIM:226300 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Rickets, Osteoma... |
ORPHA:89937 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc... |
OMIM:301040 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Pustule, Wheezing, Recurrent tonsillitis, Hyperkalemia, Atopic derma... |
ORPHA:171876 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Splenom... |
ORPHA:90051 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... |
OMIM:602390 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Cryptorchidism, Hyperkalemia, Sepsis, Anemia, L... |
OMIM:617053 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi... |
OMIM:251290 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Hepatomegaly |
OMIM:607906 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Death in infancy, Elevated circulating hexacosanoic acid concentration, Jaundice, E... |
OMIM:614872 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Methylmalonic... |
OMIM:236270 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Cholangitis, Portal hypertension, H... |
ORPHA:284 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Abnormal... |
ORPHA:2072 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... |
ORPHA:79273 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... |
ORPHA:3162 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Roifman Syndrome |
|
Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Decreased circulating antibody level,... |
ORPHA:353298 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia |
ORPHA:2325 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... |
OMIM:613845 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... |
ORPHA:79128 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Decreased urinary potassium |
OMIM:611489 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... |
OMIM:242860 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Sea-blue hi... |
ORPHA:158029 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Hyperprolinemia, Decreased li... |
OMIM:616299 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T... |
ORPHA:90045 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Potocki-Shaffer Syndrome |
|
Micropenis, Anemia |
ORPHA:52022 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... |
OMIM:240300 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Darier's sign, Urticaria, Increased pr... |
ORPHA:98848 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se... |
OMIM:612301 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
Sandhoff Disease |
|
Splenomegaly, Recurrent respiratory infections, Hepatomegaly |
ORPHA:796 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Cryptorchidism, Hypogonadism, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, ... |
OMIM:201475 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Restrictive ventilatory defect,... |
OMIM:615704 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Hepatomegaly, Recurrent viral infections, Splenomegaly, Respira... |
OMIM:609981 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alp... |
OMIM:187900 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Infertility |
OMIM:300719 |
Typhoid |
|
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... |
ORPHA:99745 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice... |
ORPHA:549 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Hypocalcemia, Meningitis, Acute colitis, Hypon... |
ORPHA:544482 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Meningitis, Uveitis, Lymphadenopath... |
ORPHA:36412 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... |
ORPHA:77261 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre... |
OMIM:610377 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... |
OMIM:616371 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... |
OMIM:606812 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, Hypertyrosinemia, Conjugated hyperbilirubinemia,... |
OMIM:617156 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Primary amenorrhea, Decreased t... |
ORPHA:293967 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Pulmonic stenosis, Hypochromic a... |
ORPHA:99147 |
Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Pulmonary fibrosis |
OMIM:612199 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal l... |
ORPHA:2584 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Recurrent inf... |
OMIM:620184 |
Overlap Myositis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Severe infecti... |
ORPHA:206572 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Decreased methionine synthase activity, Megaloblastic anemia |
OMIM:250940 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Combined Saposin Deficiency |
|
Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly |
OMIM:611721 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... |
ORPHA:98850 |
Lambert Syndrome |
|
Jaundice, Hypospadias, Intrahepatic biliary atresia, Cholestasis |
ORPHA:1296 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c... |
ORPHA:85443 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... |
OMIM:616373 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Renal insufficiency, Proteinuria, Increas... |
ORPHA:182050 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Macrocytic anemia, Muscular ventricular septal defect |
OMIM:620071 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Pelvic mass, Elevated carcinoma antigen 125 level, Elevat... |
ORPHA:370348 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Dilated... |
ORPHA:20 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:612783 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Microcytic anemia, ... |
ORPHA:774 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... |
OMIM:619377 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... |
OMIM:617303 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... |
OMIM:275350 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... |
ORPHA:186 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... |
ORPHA:26791 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormal... |
ORPHA:95455 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... |
ORPHA:125 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... |
OMIM:617050 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... |
ORPHA:254361 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Medullary nephrocalcinosis, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septa... |
OMIM:613404 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid... |
OMIM:251110 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:619685 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp... |
ORPHA:35687 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Anemia |
ORPHA:1192 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Mi... |
OMIM:619418 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Recurrent bronchitis, Elevated circulating alpha-feto... |
OMIM:208900 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Urticaria,... |
ORPHA:575 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary am... |
OMIM:612526 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Renal insufficiency, Proteinuria, Anemia |
ORPHA:375 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... |
ORPHA:69663 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Ollier Disease |
|
Lymphangioma, Anemia |
ORPHA:296 |
Hamamy Syndrome |
|
Osteopenia, Craniosynostosis, Microcytic anemia, Cryptorchidism, Complete atrioventricular canal ... |
OMIM:611174 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Splenomegal... |
OMIM:613471 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:618674 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... |
ORPHA:83617 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... |
ORPHA:97280 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Chilblains, Splenomegaly, Erythema, Cardi... |
OMIM:225750 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro... |
OMIM:616622 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Anemia |
OMIM:226670 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Recurrent pancreatitis, Decreased liver functio... |
OMIM:618268 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia, Neut... |
OMIM:155100 |
Angioma, Tufted |
|
Abnormality of skin pigmentation, Vascular skin abnormality |
OMIM:607859 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent infections, Abno... |
ORPHA:84064 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Dermotrichic Syndrome |
|
Aminoaciduria, Anemia |
ORPHA:99688 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ... |
OMIM:610978 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Facial palsy, Hyperkalemia, Renal tubular epithelial ne... |
ORPHA:31826 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent... |
ORPHA:343 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g... |
ORPHA:340 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276575 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Splenomegaly... |
ORPHA:95159 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatiti... |
ORPHA:449432 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Atrial septal defect, Hepatomegaly, Bilateral fetal pyelectasis, Hi... |
OMIM:300868 |
Eisenmenger Syndrome |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Tetralogy of Fallot, Hypochromic microcytic an... |
ORPHA:97214 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia |
OMIM:614450 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... |
OMIM:617718 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Severe viral infection, Hepatitis, Uveitis, A... |
ORPHA:319251 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:618858 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin, Prolonged neon... |
ORPHA:95715 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, ... |
OMIM:212750 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Purpura, Cutis marmorata, Abnormality of neutrophils, Splenomega... |
ORPHA:33226 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced... |
OMIM:613385 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hyper... |
OMIM:231530 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, ... |
ORPHA:163979 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I... |
OMIM:256500 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure |
ORPHA:330021 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Acne, Abnormality of the tonsils, Impaired T cell function, Seborrheic dermat... |
ORPHA:567 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Diarr... |
ORPHA:2930 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... |
OMIM:242840 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Anemia, Leukopenia, Restrictive ventilatory... |
OMIM:305000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Anemia |
OMIM:608068 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir... |
ORPHA:99829 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... |
ORPHA:77260 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen... |
ORPHA:79320 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Chronic infection, Leukoc... |
ORPHA:520 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
Junctional Epidermolysis Bullosa Inversa |
|
Anemia |
ORPHA:79405 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... |
ORPHA:100075 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyper... |
OMIM:620358 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Vomiting, Prolonged neonatal jaundice |
OMIM:618512 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver |
ORPHA:205 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Anemia, Decreased liver function |
OMIM:618835 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Cholangitis, Incr... |
ORPHA:449563 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Anemia, Decreased liver function |
OMIM:618839 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hyponatremia, Partial absence of... |
ORPHA:79324 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly |
ORPHA:2204 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Depigmentation/hyperpigmentation of skin, Calvarial hyperostos... |
OMIM:176920 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Abnormality of the kidney, Cutis marmorata, Myocarditis, Arthrit... |
ORPHA:464343 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra... |
OMIM:608104 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... |
ORPHA:90041 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Neurofibrill... |
OMIM:257220 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl... |
OMIM:620005 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Abnormal ... |
ORPHA:79408 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Increa... |
ORPHA:264580 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... |
OMIM:614376 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Purpura, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced ... |
OMIM:273800 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neu... |
ORPHA:525731 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leuk... |
ORPHA:292 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Anemia,... |
OMIM:606966 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... |
ORPHA:545 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... |
ORPHA:1302 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs |
ORPHA:3327 |
Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Meningitis,... |
ORPHA:297 |
Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent... |
OMIM:616651 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:610582 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Sepsis, ... |
OMIM:614886 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Mye... |
ORPHA:79456 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Generalized abnormality of skin, Fragile skin, Anemia |
ORPHA:79411 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... |
OMIM:610102 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Prolonged prothrombin time |
OMIM:616483 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar... |
ORPHA:536 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, H... |
OMIM:606054 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Cardiomegaly, Decrea... |
ORPHA:79330 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79406 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Elevated circulating alkali... |
ORPHA:69665 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia |
ORPHA:99843 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Muscle hemorrhage, ... |
ORPHA:464321 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:606176 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Hepatomegaly, Pallor, Increased C-peptide level |
ORPHA:324575 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megalobla... |
ORPHA:2575 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Right ventricular hypertrophy |
ORPHA:275766 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I... |
OMIM:238600 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, Pallor, Achalasia |
ORPHA:3386 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Biliary tract abnormality, Iron... |
OMIM:175200 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Hypogonadotropic hypogonadism, Portal hy... |
ORPHA:465508 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... |
OMIM:266900 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... |
ORPHA:42642 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Megalo... |
ORPHA:79282 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Testicular at... |
OMIM:222300 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Increased i... |
OMIM:255125 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... |
OMIM:214110 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Cryptorchidism, Normochromic anemia, Neutropenia, Atrial ... |
OMIM:614857 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Portal hypertens... |
OMIM:613658 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... |
OMIM:277380 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Eczema, Minimal change glome... |
OMIM:618348 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Abnormal hair quantity, Decreased female libido, Hypogonadotropic h... |
ORPHA:91349 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, I... |
OMIM:231200 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... |
ORPHA:93598 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:616329 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect |
OMIM:602271 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Pallor, Albinism |
ORPHA:2786 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Nephronophthisis 1 |
|
Polyuria, Stage 5 chronic kidney disease, Hyposthenuria, Renal corticomedullary cysts, Nephronoph... |
OMIM:256100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce... |
ORPHA:81 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonar... |
ORPHA:732 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepato... |
ORPHA:79240 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, C... |
OMIM:300534 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... |
ORPHA:567548 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Jaundice, Skin ulcer, Ascites, Cirrhosis, Generalized a... |
ORPHA:779 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Glomerulonephritis, Purpura |
OMIM:614380 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Myopathy,... |
ORPHA:100093 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Leukopenia, Increased ci... |
ORPHA:319218 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly |
OMIM:608540 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septa... |
OMIM:614866 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis |
OMIM:301066 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Abnormality of the m... |
ORPHA:330015 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Pulmonary Arteriovenous Malformation |
|
Liver abscess, Cyanosis, Telangiectasia, Iron deficiency anemia, Bacterial endocarditis |
ORPHA:2038 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h... |
OMIM:227650 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Pulmonary fibrosis, Hypophosphatemia, Decreased DLCO, Emphysema, Lung a... |
OMIM:618913 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu... |
ORPHA:98827 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... |
ORPHA:379 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... |
OMIM:616414 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function |
OMIM:614870 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Cervical lymphadenopathy, Leukocytosis, Jaundice,... |
ORPHA:2331 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... |
OMIM:600901 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Thyroid Hemiagenesis |
|
Jaundice |
ORPHA:95719 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased female libido, Sparse axillary hair, Nausea, Sparse pubic ha... |
ORPHA:91355 |
Solitary Rectal Ulcer Syndrome |
|
Anemia |
ORPHA:209964 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro... |
ORPHA:100078 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Exocrine pancreatic insufficiency |
OMIM:609812 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Pulmonary fibrosis |
ORPHA:220402 |
Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Hepatic fibrosis, Nephron... |
OMIM:613550 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:210900 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... |
OMIM:608203 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... |
OMIM:256810 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Pallor, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy... |
ORPHA:760 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... |
ORPHA:2314 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Pulmonary fibrosis, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ventilatory defect... |
ORPHA:2905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Hyperalaninemia, Abnormal circulating creatine ... |
OMIM:615838 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... |
ORPHA:521219 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice |
ORPHA:2349 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... |
ORPHA:436271 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Goiter |
OMIM:617175 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Recurrent pneumonia, Hepatomegaly |
OMIM:615637 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An... |
OMIM:615710 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:608779 |
Melioidosis |
|
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin infection... |
ORPHA:31202 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leuko... |
ORPHA:505248 |
Hermansky-Pudlak Syndrome |
|
Dyspnea, Epistaxis, Pulmonary fibrosis, Neutropenia |
ORPHA:79430 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased... |
OMIM:620040 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Hijazi-Reis Syndrome |
|
Recurrent respiratory infections, Hyperbilirubinemia, Recurrent ear infections |
OMIM:301094 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... |
ORPHA:90363 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Recurrent inf... |
OMIM:605309 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Chronic diarrhea, Elevated... |
OMIM:613489 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating porphyrin c... |
ORPHA:79473 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Abnormality of skin pigmentation, Ascit... |
ORPHA:834 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613807 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficiency anemia, Atrial... |
OMIM:619488 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Eleva... |
ORPHA:263455 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno... |
ORPHA:221 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Hypergonad... |
OMIM:227645 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Stomatitis |
ORPHA:438274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Hyperprolinemia, Dea... |
OMIM:619064 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Anemia |
ORPHA:1842 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Horseshoe kidney, Atrial septal defect, T... |
ORPHA:2886 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Meningitis, Increased circulating IgM level, Arthritis, Conju... |
ORPHA:448237 |
Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Agenesis of corpus cal... |
OMIM:227646 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit... |
OMIM:256700 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Adenohypophysitis |
|
Hyponatremia, Decreased female libido, Normochromic anemia, Impotence, Pallor, Decreased male lib... |
ORPHA:95512 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis |
ORPHA:52047 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis,... |
ORPHA:67 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, My... |
ORPHA:3452 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure,... |
OMIM:608013 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy... |
ORPHA:391 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia |
OMIM:618885 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia... |
OMIM:615577 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria, Anemia |
ORPHA:325 |
Kaposi Sarcoma |
|
Recurrent herpes, Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Abnormal lun... |
ORPHA:33276 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Anemia |
ORPHA:298 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha... |
OMIM:228000 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Diarrhea, Low alkaline phosphatase, De... |
OMIM:201100 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis, Thrombocytopenia |
OMIM:274240 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Small nail, Hyperbilirubinem... |
OMIM:619075 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Anemia, Ascites, Thrombocytopenia |
ORPHA:79325 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... |
OMIM:619743 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619048 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... |
OMIM:604173 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Cholestasis |
OMIM:609734 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme... |
OMIM:618541 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Punctate vasculitis skin lesions, T... |
ORPHA:247691 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Acth Deficiency, Isolated |
|
Jaundice, Cholestasis |
OMIM:201400 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Panhypophysitis |
|
Hyponatremia, Decreased female libido, Normochromic anemia, Impotence, Pallor, Decreased male lib... |
ORPHA:95513 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... |
ORPHA:542323 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
Weismann-Netter Syndrome |
|
Anemia |
ORPHA:3344 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev... |
ORPHA:57777 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... |
OMIM:613860 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... |
OMIM:603467 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Albinism, Bruising susceptibility, Hypopigmentation of the skin, Abnorm... |
OMIM:614072 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ... |
ORPHA:2035 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Decreased liver function, ... |
OMIM:246900 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Nephropathy, Ascites |
ORPHA:87876 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Pulmonary arterial hypertension |
ORPHA:464738 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin... |
OMIM:308300 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula... |
OMIM:615673 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95716 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... |
OMIM:120100 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Pallor, Hypocalcemia, H... |
ORPHA:667 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy |
OMIM:530000 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... |
OMIM:230900 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration |
ORPHA:324964 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Prolonged prothrombin time, Hepatic fi... |
OMIM:212065 |
Livedoid Vasculopathy |
|
Pancytopenia, Cutis marmorata, Telangiectasia of the skin, Poor wound healing, Leukocytosis, Skin... |
ORPHA:542643 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Recurrent infections, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Secundum atrial septal defect, Patent duc... |
OMIM:617397 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Listeriosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritoniti... |
ORPHA:533 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hor... |
ORPHA:293978 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Hepatitis, G... |
ORPHA:199299 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Pelvic kidney, Anemia, Horseshoe kidney |
OMIM:613951 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Con... |
OMIM:191900 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatitis, ... |
OMIM:614602 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... |
OMIM:607944 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology |
ORPHA:2571 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... |
ORPHA:79259 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... |
OMIM:601399 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Exercise-induc... |
ORPHA:26793 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Respiratory distress, N... |
ORPHA:209905 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Acanthocytosis |
OMIM:234200 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri... |
OMIM:233450 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Anemia |
ORPHA:79409 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Anemia |
OMIM:208060 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... |
OMIM:602782 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Hypogonadism |
ORPHA:98673 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... |
ORPHA:2552 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Dengue Fever |
|
Hepatomegaly, Thrombocytopenia, Leukopenia, Ascites, Bruising susceptibility, Hypoproteinemia, Pe... |
ORPHA:99828 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Portal vein hypoplasia, Death in infancy, Ascites |
OMIM:619433 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Dilate... |
ORPHA:367 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... |
OMIM:614294 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Cutis marmorata,... |
ORPHA:91138 |
Stiff-Person Syndrome |
|
Anemia |
OMIM:184850 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95613 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin... |
OMIM:615751 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Cirrhosis, Testicular a... |
OMIM:613987 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... |
ORPHA:97287 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hypoproteinemia, Hydronephrosis, A... |
ORPHA:2315 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating globotriaosylceramide concentration, Urina... |
OMIM:301500 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca... |
ORPHA:254864 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Recurrent ear infections... |
ORPHA:163956 |
Fanconi Anemia, Complementation Group S |
|
Anemia |
OMIM:617883 |
46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Streak ovary, Pulmonary fibrosis |
ORPHA:243 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Neutropenia, Megaloblastic ... |
ORPHA:79284 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Posterior uveitis... |
ORPHA:52417 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Cardiomegaly, Recurrent infections, Cholelithiasis, Annu... |
ORPHA:97297 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Maculopapular exanthema, Skin rash, Crackles... |
ORPHA:319213 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Rhabdomyolysis, Hepatiti... |
ORPHA:509 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Arthritis, Chronic otitis media |
ORPHA:61 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Pulmonary hypoplasia, Polysplenia |
ORPHA:1335 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... |
ORPHA:89842 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Ab... |
ORPHA:79083 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Decreased circu... |
ORPHA:79329 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79332 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,... |
ORPHA:912 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Abnormality of sk... |
ORPHA:2348 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia |
OMIM:618372 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy |
ORPHA:69076 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... |
OMIM:229600 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Adams-Oliver Syndrome 6 |
|
Cutis marmorata, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis |
OMIM:616589 |
Prolactinoma |
|
Abnormal hair quantity, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Fema... |
ORPHA:2965 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Elevated ... |
OMIM:301056 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Congeni... |
OMIM:250250 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... |
ORPHA:935 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cutis marmorata, Chilblains... |
ORPHA:51 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Restrictive ventilatory defect, Inflammation of the large int... |
OMIM:203300 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity, Urinary incontinence... |
OMIM:268800 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Respiratory insuffici... |
ORPHA:2136 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Prolonged neonatal jaundice |
OMIM:618828 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Cough, Pleural eff... |
ORPHA:188 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Recurrent infect... |
OMIM:617827 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
Developmental And Epileptic Encephalopathy 75 |
|
Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Meningitis, Lymphadenopathy, Res... |
ORPHA:83317 |
Cyclic Vomiting Syndrome |
|
Vomiting, Pallor, Nausea |
OMIM:500007 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Synophrys, Diarrhea, Coarse hair, Hirsutism |
OMIM:252900 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Mottled pigmentation, Absent ossification of capital femoral epi... |
ORPHA:226313 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia |
ORPHA:79410 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Jaundice, Diarrhea, Hypermagnes... |
ORPHA:469 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Jaundice, Hypoproteinemia |
OMIM:608093 |
Severe Hemophilia A |
|
Anemia, Macroscopic hematuria |
ORPHA:169802 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... |
OMIM:137940 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Diarrhea, Coarse hair, Dysphagia, Hirsutism, Hypertrichosis |
OMIM:252930 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Pallor |
ORPHA:29822 |
Myopathic Ehlers-Danlos Syndrome |
|
Mildly elevated creatine kinase, Pallor, Poor wound healing |
ORPHA:536516 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Flexion contracture, Facial erythema, Knee flexion contracture, Hypocalcemia, Chro... |
OMIM:619503 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyp... |
OMIM:208500 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Arthritis |
ORPHA:220393 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha... |
ORPHA:73263 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Hyponatremia, Apnea, Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocyt... |
ORPHA:391673 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration, Respiratory insufficiency |
OMIM:213700 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... |
OMIM:614096 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su... |
OMIM:269700 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... |
OMIM:609814 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor, Nausea, Flushing |
ORPHA:94080 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites |
OMIM:253250 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Anemia |
OMIM:620331 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Hype... |
ORPHA:3008 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contrac... |
ORPHA:90321 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Hyponatremia, Neutrophilia, Meningitis, Increased ci... |
ORPHA:79139 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ... |
ORPHA:2796 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Prolidase Deficiency |
|
Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin... |
ORPHA:742 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Hep... |
ORPHA:1775 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Recurrent upper re... |
OMIM:614075 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Actinic Prurigo |
|
Cheilitis, Cutaneous photosensitivity, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Ocular albinism, Hypopigmentation of the skin, Thrombocytopenia |
OMIM:614171 |
Fucosidosis |
|
Hepatomegaly, Angiokeratoma, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contract... |
OMIM:230000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... |
ORPHA:228305 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal lung morphology, Prolonged neonatal jaundice |
ORPHA:909 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Death in infancy |
OMIM:613730 |
Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Iron deficiency anemia, Reduced bone mineral density |
ORPHA:93315 |
Joubert Syndrome 8 |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Pneumothora... |
ORPHA:411703 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Gastrointestinal Stromal Tumor |
|
Abnormality of the liver, Anemia |
ORPHA:44890 |
Renal Nutcracker Syndrome |
|
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Cryptorchidism, Recurrent infections, Acute lymphoblastic leukemia, Otit... |
OMIM:223370 |
Lassa Fever |
|
Menometrorrhagia, Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Lymphatic Malformation 7 |
|
Ascites, Anemia |
OMIM:617300 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:85408 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust... |
ORPHA:29207 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Dravet Syndrome |
|
Cyanotic episode, Pallor |
ORPHA:33069 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Autoimmune thrombocytop... |
OMIM:147920 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia |
OMIM:226600 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Cryptorchidism, Recurrent pneumonia, Recurrent upper respiratory tract infe... |
OMIM:607143 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card... |
OMIM:230500 |
Congenital Heart Block |
|
Cyanosis, Pallor |
ORPHA:60041 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Prolonged neonatal jaundice |
OMIM:618868 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Low plasma c... |
OMIM:261680 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Abnormal circulating thyroglobulin level, Dry skin, Prolonged neonatal jaundice |
ORPHA:99832 |
Peroxisome Biogenesis Disorder 6B |
|
Elevated circulating phytanic acid concentration, Decreased liver function, Prolonged neonatal ja... |
OMIM:614871 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Cryptorchi... |
OMIM:214100 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Increased su... |
OMIM:608600 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... |
OMIM:619170 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia |
ORPHA:261584 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Hypogonadism, Neonatal hyperbilirubinemia, Low posterior hairline |
ORPHA:73272 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Addison Disease |
|
Normocytic anemia, Premature ovarian insufficiency, Primary testicular failure, Decreased female ... |
ORPHA:85138 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Dry skin, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyroglobulin l... |
ORPHA:90674 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblasto... |
ORPHA:116 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hyperalaninemia |
OMIM:266150 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Nail-Patella Syndrome |
|
Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
Immunodeficiency 32A |
|
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma |
OMIM:614893 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal... |
OMIM:117550 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Cryptorchidism, Flexion contracture, Prolonged neonatal jaundice, Limb h... |
ORPHA:59 |
Mednik Syndrome |
|
Death in infancy, Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in childhood, Neonata... |
OMIM:609313 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexion contract... |
OMIM:618440 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia,... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Hyperostosis |
ORPHA:53715 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutr... |
OMIM:617248 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Cyanosis, Cardiomegaly, Hyperammonemia, Hy... |
ORPHA:391428 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Asthma, Recurrent upper respiratory tract infections, Epistaxis |
ORPHA:293939 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec... |
OMIM:235255 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Decreased serum iron, Recurrent upper respiratory tract infections, Re... |
ORPHA:391372 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, El... |
OMIM:615381 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,... |
OMIM:614702 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:90673 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... |
ORPHA:860 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Elevated circulating phytanic acid co... |
OMIM:266500 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu... |
ORPHA:206569 |
Opsismodysplasia |
|
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly |
ORPHA:2746 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c... |
ORPHA:3132 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema |
ORPHA:330001 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Jaundice, Prolonged neonatal jaundice |
OMIM:613038 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... |
OMIM:118450 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hepatic hemangioma, Multiple renal cysts, Polycythemia |
OMIM:193300 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Hypercholester... |
ORPHA:273 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly, Vascular skin abnormality, Oligosacchariduria |
ORPHA:3137 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Recurrent infections, Decreased s... |
ORPHA:541423 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic in... |
ORPHA:2357 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Respirato... |
ORPHA:537 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena... |
ORPHA:1655 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... |
OMIM:161950 |
Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnormality of the li... |
ORPHA:84 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Hypercholesterolemia, Low anteri... |
ORPHA:528 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypopla... |
OMIM:620186 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Hypocalcemia, Tetra... |
OMIM:601005 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... |
OMIM:620326 |
Chromomycosis |
|
Keratitis, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivitis sicca, ... |
ORPHA:182 |
Camurati-Engelmann Disease |
|
Bone marrow hypocellularity, Anemia |
OMIM:131300 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
ORPHA:646 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Diarrhea, Jaundice, Abnormal lymph node morphology, Vo... |
ORPHA:677 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Flexion contracture, Renal cyst, Knee flexion contractur... |
OMIM:210710 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased female libido, Hyperpigmentation of the skin, Vitiligo |
ORPHA:95409 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Death in childhood, Hepatic failure |
OMIM:602579 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Erythema, Hepatomegaly |
ORPHA:33577 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections |
ORPHA:51890 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Splenomegaly, Recurrent respiratory infections, Hepatomegaly |
OMIM:607015 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Anhidrotic ectodermal dysplasia, Splenomegaly, Chronic diarrhea,... |
OMIM:612132 |
Myopathy, Mitochondrial, And Ataxia |
|
Elevated circulating creatine kinase concentration, Thick hair, Pallor, Primary amenorrhea |
OMIM:617675 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Megaloblastic anemia, Pigmentary retinopathy, Neutropenia... |
OMIM:277400 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized h... |
OMIM:269921 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Chronic otitis media |
ORPHA:583 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen... |
ORPHA:436252 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Cardiomegaly |
OMIM:613576 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Thin b... |
OMIM:230600 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... |
ORPHA:70578 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Rhabdomyolys... |
ORPHA:90068 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
Urachal Cyst |
|
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per... |
ORPHA:488 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Ascites, Aspiration pn... |
OMIM:301072 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Ascites |
ORPHA:584 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Williams Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypercalcemia, Elevated cir... |
ORPHA:904 |
Thyroid Hypoplasia |
|
Jaundice |
ORPHA:95720 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... |
OMIM:243800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Micropenis, Thrombocytopenia |
OMIM:619005 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Diarrhea, Hyperammonemia, Vomiting, Decreased circulating b... |
OMIM:253260 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Recurrent otitis med... |
OMIM:309900 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Camptodact... |
ORPHA:263487 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, ... |
ORPHA:90340 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstru... |
ORPHA:3385 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Recurrent infections, Test... |
ORPHA:764 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... |
ORPHA:319487 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten... |
OMIM:616028 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Abnormal subcutaneous fat tiss... |
ORPHA:1328 |
Scheie Syndrome |
|
Splenomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:93474 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hepatomegaly, Hyper... |
ORPHA:280365 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri... |
OMIM:618652 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... |
ORPHA:97290 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Multicystic kidney dysplasia, P... |
ORPHA:1454 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... |
OMIM:617913 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Mucopolysaccha... |
ORPHA:349 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia, Death in infancy |
OMIM:610678 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia |
ORPHA:3035 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypogonadism, Megaloblastic anemia |
ORPHA:79351 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Wolfram Syndrome |
|
Nephropathy, Abnormal mesentery morphology, Dysuria, Anemia |
ORPHA:3463 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile duct proliferation, Hepatic fi... |
OMIM:612284 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Pancreatitis, Anemia |
ORPHA:31205 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Flexion contracture, Micropenis, Hypertroph... |
OMIM:616897 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... |
OMIM:613177 |
Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... |
ORPHA:31824 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... |
ORPHA:308552 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... |
OMIM:232240 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:175 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary ... |
ORPHA:99921 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Pulmonary fibrosis, Decreased circul... |
ORPHA:3337 |
Rheumatic Fever |
|
Erythema, Constipation, Pallor |
ORPHA:3099 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... |
ORPHA:1493 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Hyperostosis, Irregular hyperpigmentation, Heterochromia iridis... |
ORPHA:2969 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Conjugated hyperbilirubinemia... |
OMIM:620305 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Torticollis, Osteomyelitis, Bicuspid aortic valve, Hypospadias, Ve... |
OMIM:619475 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Anemia, Telangiectasia |
OMIM:175050 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:226316 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dec... |
OMIM:606056 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... |
ORPHA:342 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... |
ORPHA:309282 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypere... |
OMIM:619472 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Neoplasm of the lung, S... |
ORPHA:142 |
Distal Duplication 5Q |
|
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Diastasis... |
OMIM:252500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Pallor, Nausea, Flushing |
ORPHA:276621 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Micropenis, Anemia |
OMIM:614083 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Dysphagia |
ORPHA:13 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Iron deficiency anemia, Pericardial effusion |
ORPHA:358 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Ventricular septal defect, Cryptorchidism, Multiple lentigines, Pulmonic stenosis,... |
OMIM:607721 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Adenoiditis, Recurr... |
ORPHA:581 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Pallor |
ORPHA:64280 |
Trisomy 8P |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Aplasia/Hyp... |
ORPHA:264450 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Elevated circulatin... |
ORPHA:159 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Abnormality of humoral immunity, ... |
ORPHA:642 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Death in infancy |
OMIM:614862 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Reduced su... |
OMIM:608594 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Asthma, Decreased circulating IgA level |
ORPHA:457485 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Pericarditis, Myositis, Recurrent urinary tract infections, ... |
ORPHA:3310 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia |
OMIM:207800 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia, Vomiting, Macroorchidism |
ORPHA:90790 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Jaundice, Erythema, Diarrhea,... |
ORPHA:913 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Sple... |
ORPHA:117 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Seborrheic dermatiti... |
ORPHA:488618 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle weakness, Increased hepati... |
OMIM:619259 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Chops Syndrome |
|
Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... |
OMIM:616368 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... |
OMIM:253200 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Respiratory insufficiency, Periportal fibrosis, Pulmonar... |
OMIM:269860 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Atrial septal defect, Chronic otitis media, Vesicouret... |
ORPHA:821 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Pallor, Cardiomegaly |
ORPHA:137675 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Inflammation of the l... |
ORPHA:26790 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... |
OMIM:241410 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Abnormal lung morphology, Paraproteinemia, Ab... |
ORPHA:167635 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary capillary he... |
ORPHA:199241 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Spontaneous hematomas, Prolonged neonatal ... |
ORPHA:565 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi... |
OMIM:600376 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
Alternating Hemiplegia Of Childhood |
|
Oral-pharyngeal dysphagia, Diarrhea, Dysphagia, Vomiting, Pallor, Thin eyebrow, Constipation, Flu... |
ORPHA:2131 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Abnormal lung lobation, Decreased circul... |
ORPHA:369837 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Pallor, Nausea, Flushing |
ORPHA:29072 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, Premature grayi... |
ORPHA:163746 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous p... |
ORPHA:555874 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Plague |
|
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... |
ORPHA:707 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ... |
OMIM:261515 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Occipital Horn Syndrome |
|
Gastroparesis, Thick hair, Jaundice, Hepatitis, Cholestasis, Coarse hair, Gastroesophageal reflux... |
ORPHA:198 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hyperparathyroidism, Hypoammonemia, Atelectasis, ... |
ORPHA:534 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hyperlipidemia, ... |
OMIM:232200 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Elevated circulating alkaline phosphat... |
OMIM:616026 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Hepatoblastoma, Atria... |
ORPHA:373 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism, Abnormalit... |
ORPHA:438213 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Abnormal... |
ORPHA:93473 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... |
ORPHA:365 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Low alkaline phosphatase... |
OMIM:618143 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Hypercalcemia, Cervical lymphadenopathy, Diarrhea, Neoplasm ... |
ORPHA:653 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia... |
ORPHA:1329 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia |
OMIM:612918 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration, Ri... |
OMIM:253700 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Dubowitz Syndrome |
|
Cutis marmorata, Craniosynostosis, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblasti... |
ORPHA:235 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Congenital muscular torticollis, Truncus arteriosus, ... |
ORPHA:2538 |
Nephroblastoma |
|
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplas... |
OMIM:130650 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Secretory IgA deficiency, Recurrent infections, Res... |
ORPHA:500150 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Lymphade... |
ORPHA:1332 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Cutis marmorata, Cardiomegaly |
ORPHA:229 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Constipation, Dry skin, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Paraproteinemia, Elevated circulating creatinine concentration, Chronic... |
ORPHA:439232 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Recurrent Aspergillus infections... |
ORPHA:586 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypogonadism |
OMIM:614231 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Decreased circulating GABA concentration |
OMIM:104300 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Duplication of internal organs, Thr... |
OMIM:122470 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... |
OMIM:609536 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Telangiectasia of the ... |
OMIM:187300 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr... |
ORPHA:97285 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Pleural effusion, Chylothorax, Intestinal lymphangiectasia, Ascites |
OMIM:616843 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Abnormality of the lymphatic system, Pneu... |
ORPHA:538 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Thyroid Ectopia |
|
Jaundice |
ORPHA:95712 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Increased circulating IgE level |
ORPHA:3409 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ... |
ORPHA:99889 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Reduced C-peptide level, Hypoamylasemia, Hypoxemia, Pancreatic aplasia |
ORPHA:556955 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Pulmonary hypoplasia |
OMIM:617925 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Esophageal Atresia |
|
Cyanosis, Gastroesophageal reflux, Vomiting, Pallor, Dysphagia, Esophagitis |
ORPHA:1199 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... |
OMIM:216400 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Recurrent infections, Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG... |
OMIM:601675 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Kindler Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Erythema, Cutaneous photosensitivity, Anemia |
ORPHA:2908 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Exocrine pancreatic insufficiency, Pulmonary artery stenosis, Biliary atres... |
ORPHA:2255 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... |
OMIM:249000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia |
ORPHA:1867 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus... |
ORPHA:3384 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Prolonged prothrombin time, Respiratory... |
OMIM:618329 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... |
OMIM:278300 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis |
OMIM:617140 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Secondary growth hormone deficiency, Decreased circulating IgA level |
ORPHA:1600 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Macroglossia, Prolonged neonatal jaundice, Abnormal circulating th... |
ORPHA:226307 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... |
OMIM:133540 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Erythema, Hypopigmented skin patches, Osteolysis, Abnor... |
ORPHA:464 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Ctcf-Related Neurodevelopmental Disorder |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Long eyelashes, Gastroesophageal reflux, Prolon... |
ORPHA:363611 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis... |
OMIM:314300 |
Encephalitis Lethargica |
|
Recurrent viral infections, Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Respiratory distress |
OMIM:300219 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Lateral ventricle dilatation, Atrial septal defect, Ureteropelvic junction... |
OMIM:300896 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... |
ORPHA:747 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Nail-Patella Syndrome |
|
Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o... |
ORPHA:2614 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Osteolysis, Acute lymphoblastic leukemia, Abnormality of skin pigmentation,... |
ORPHA:1052 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Recurrent pn... |
ORPHA:980 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Fragile skin, Cardiomegaly |
ORPHA:158687 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arteriovenous malformation, H... |
ORPHA:2929 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Trisomy 10P |
|
Absent gallbladder |
ORPHA:171929 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti... |
OMIM:300967 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia |
OMIM:619167 |
Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... |
ORPHA:173 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... |
ORPHA:3427 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles |
OMIM:608907 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... |
ORPHA:744 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Atrioventricular canal de... |
OMIM:617088 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati... |
OMIM:618500 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... |
ORPHA:1457 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... |
ORPHA:728 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia |
OMIM:617809 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Acne, Vacuolated lymphocytes, Angiokeratoma corporis diffus... |
OMIM:208400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pulmonary artery stenosis, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Lower limb muscle weakness |
OMIM:137440 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:618458 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Arthritis, Macroorchidism, Chronic ... |
ORPHA:93 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles |
OMIM:607822 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cutis marmorata, Cardiomegaly, Patent ductus arteriosus, Bruising suscepti... |
ORPHA:91387 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Abnormal blood zinc concentration, Recurrent infections, Abnormality of th... |
ORPHA:468699 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lateral ventricle dilatation |
OMIM:607485 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uve... |
ORPHA:2273 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Cryptorchidism, Hypoplasia of ... |
OMIM:264090 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cyanosis, Elevated alkaline phosphatase of bone origi... |
ORPHA:51608 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Aortic valve calcification, Reduced ... |
ORPHA:56 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles |
OMIM:616840 |
Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia |
ORPHA:79500 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Progressive Non-Fluent Aphasia |
|
Neurofibrillary tangles |
ORPHA:100070 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Trichinellosis |
|
Skin rash, Meningitis, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves... |
OMIM:140000 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation |
OMIM:610688 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o... |
ORPHA:733 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles |
OMIM:610217 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Abnormal circulating creatine kinase concentration, Hypomimic face |
ORPHA:199351 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis,... |
OMIM:181270 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Cyanosis, Pallor, Cardiomegaly |
ORPHA:99125 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Peters-Plus Syndrome |
|
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder |
OMIM:261540 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Elevated circulating growth ho... |
ORPHA:79318 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Dilatation of the ventricular cavity, Recurrent pneumonia, Py... |
ORPHA:90349 |
Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles, Retrocollis |
OMIM:609454 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353281 |
Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Unilateral renal agenesis, Dilatation of the ventricular cavity, Bro... |
ORPHA:90348 |
Supranuclear Palsy, Progressive, 1 |
|
Neurofibrillary tangles, Retrocollis |
OMIM:601104 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353277 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |