| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic stea... |
OMIM:614480 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... |
OMIM:267700 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Cataract, Hypoalbuminemia,... |
OMIM:618805 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
| Leishmaniasis |
|
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... |
ORPHA:507 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegal... |
OMIM:603553 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Arrhythmia, Hyponatremia, Neutropenia |
OMIM:616949 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... |
ORPHA:158061 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Cough, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia... |
OMIM:619013 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... |
OMIM:308240 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hy... |
ORPHA:1667 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Respiratory insufficiency, Thrombocytopenia, Hyperuricemia, Hyponatre... |
OMIM:613845 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
| Legionnaires Disease |
|
Ataxia, Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Arrhythmia, Endocardi... |
ORPHA:549 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... |
ORPHA:182050 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice, Hyperkalemia |
OMIM:608885 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, Hypercholestero... |
OMIM:306000 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
| Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... |
OMIM:613313 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... |
OMIM:612526 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopenia, Hypotension, Myo... |
ORPHA:292 |
| Whipple Disease |
|
Ataxia, Hepatomegaly, Splenomegaly, Anemia, Respiratory insufficiency, Mediastinal lymphadenopath... |
ORPHA:3452 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice |
ORPHA:75234 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... |
ORPHA:454836 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Hemophagocytosis, Increased proportion of C... |
ORPHA:167 |
| Mirage Syndrome |
|
Lymphopenia, Hypergonadotropic hypogonadism, Aspiration pneumonia, Intracranial hemorrhage, Leuko... |
OMIM:617053 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Myoc... |
OMIM:155100 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... |
OMIM:619313 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, R... |
ORPHA:848 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cholestasis, Elevated circulating creatinine concentratio... |
OMIM:608104 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... |
ORPHA:90362 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Hemochromatosis, Type 3 |
|
Amenorrhea, Increased circulating ferritin concentration, Impotence, Lymphopenia, Hypogonadotropi... |
OMIM:604250 |
| Eosinophilic Gastroenteritis |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... |
ORPHA:2070 |
| Alg8-Cdg |
|
Ataxia, Elevated hepatic transaminase, Cataract, Hyponatremia, Anemia, Thrombocytopenia, Ascites |
ORPHA:79325 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... |
OMIM:245900 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Snakebite Envenomation |
|
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... |
ORPHA:449285 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Abno... |
ORPHA:370 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Cataract, Abnormal circulating arginine concentrat... |
ORPHA:247598 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Myeloproliferative disorder, Respiratory insufficiency, Increased erythrocyte protoporphyrin conc... |
ORPHA:100924 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Apnea, Leukocytosis, Peritonitis, Hypotension, Shock, Hyponatremia, Ne... |
ORPHA:391673 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Galactokinase Deficiency |
|
Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased lev... |
ORPHA:79237 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Elevated transf... |
OMIM:606069 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Atrial septal def... |
ORPHA:84064 |
| Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism |
OMIM:617575 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elev... |
ORPHA:98870 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... |
OMIM:153640 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pain insensitivity, Impaired vibration sensation in the lower limbs, Hypoalbuminemia, Hyp... |
ORPHA:94124 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cirrhosis, Hepatic failure, Abnormality of the pan... |
OMIM:222470 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic fibrosis, Hyponatr... |
ORPHA:275761 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
| Al Amyloidosis |
|
Autonomic erectile dysfunction, Hepatomegaly, Postural hypotension with compensatory tachycardia,... |
ORPHA:85443 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... |
OMIM:231200 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Cough,... |
ORPHA:67 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sc... |
OMIM:224120 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomega... |
OMIM:617303 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Distal sensory impairment, Hypercholesterolemia |
OMIM:607250 |
| Abetalipoproteinemia |
|
Corneal ulceration, Ataxia, Hepatomegaly, Steatorrhea, Reticulocytosis, Respiratory failure, Impa... |
ORPHA:14 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Hepatocellular Carcinoma |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia, Hepatic ... |
ORPHA:88673 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Neutropenia, Hepatomegaly, Abnormal T cell ... |
ORPHA:158048 |
| Neuroleptic Malignant Syndrome |
|
Chorea, Tremor, Hyperuricemia, Oculogyric crisis, Tachycardia, Pulmonary embolism, Arrhythmia, El... |
ORPHA:94093 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatos... |
ORPHA:367 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Epistaxis, Tac... |
ORPHA:91547 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... |
ORPHA:275555 |
| Porphyria Variegata |
|
Respiratory paralysis, Tachycardia, Hepatocellular carcinoma, Abnormal circulating porphyrin conc... |
ORPHA:79473 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
| Shigellosis |
|
Splenic abscess, Corneal ulceration, Leukocytosis, Hypovolemic shock, Hepatic failure, Peritoniti... |
ORPHA:810 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Retinal hemorrhage, Abnormal mean co... |
ORPHA:86839 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Hypertriglyceridemia, Tremor, Dystonia |
OMIM:615924 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hype... |
OMIM:610539 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, ... |
OMIM:226300 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Decreased proportion of CD4-positive hel... |
OMIM:312863 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... |
ORPHA:71275 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Abno... |
ORPHA:264580 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Hypovolemic shock, Arrhythmia, Increased circulating renin... |
ORPHA:171876 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... |
ORPHA:238459 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival ict... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morpho... |
ORPHA:529808 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... |
OMIM:602390 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Colchicine Poisoning |
|
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... |
ORPHA:31824 |
| Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Tre... |
OMIM:277900 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Pulmonary venous hypertension, Increased mean co... |
ORPHA:3202 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Eleva... |
OMIM:617591 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Dystonia, Acute pancreati... |
OMIM:619487 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Limb ataxia, Elevated circulating creatine kinase concentration, Truncal ataxia, Chorea, ... |
OMIM:208920 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase, Dyspnea, Anemia |
ORPHA:75563 |
| Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Eosinophilia, Normocytic anemia, H... |
ORPHA:199299 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Subcapsular cataract, Ataxia, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morpholo... |
ORPHA:98907 |
| Lathosterolosis |
|
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Opacification of the corneal stroma,... |
OMIM:607330 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Myocardial infarction, Elev... |
ORPHA:90038 |
| Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Decreased serum creatinine, Myocardial infarction, Dyspnea, Microangiopathic hemolyti... |
ORPHA:54057 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, Elevated circul... |
OMIM:603471 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
| Cog4-Cdg |
|
Ataxia, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infa... |
ORPHA:263501 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Ascites, Anemia, Lymphadenopathy, Premature ovarian ins... |
ORPHA:100025 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... |
OMIM:612126 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Hepa... |
ORPHA:79240 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Primary amenor... |
ORPHA:79083 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatomegaly, Dysmetria, Steatorrhea, Hypergonadotropic hypogonadism, Intention tremor, T... |
OMIM:212065 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Epis... |
OMIM:153670 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hy... |
ORPHA:95409 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Hypocalcemia, Peritonitis... |
ORPHA:36234 |
| Marburg Hemorrhagic Fever |
|
Pancreatitis, Elevated circulating creatinine concentration, Dysesthesia, Reticulocytosis, Perica... |
ORPHA:99826 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Choreoathetosis, ... |
ORPHA:79312 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
OMIM:613011 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Pituitary Apoplexy |
|
Impotence, Increased circulating cortisol level, Hypergonadotropic hypogonadism, Oligomenorrhea, ... |
ORPHA:95613 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypo... |
ORPHA:293978 |
| Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Jaundice, Abnormality of the liver |
ORPHA:79320 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Gia... |
OMIM:169400 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Arrhy... |
ORPHA:682 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Leukocytosis, Respiratory fail... |
ORPHA:90060 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Arrhythmia, Hyperkalemia |
ORPHA:57 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Abnormal heart morphology, Airway obstruction, Conjunctivitis, Tricuspid re... |
ORPHA:505248 |
| Hereditary Coproporphyria |
|
Respiratory insufficiency, Tachycardia, Hepatocellular carcinoma, Abnormal circulating porphyrin ... |
ORPHA:79273 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Hepatomegaly, Pancreatitis, Hyperammonemia, Leukopenia, Respiratory insufficiency, Macroc... |
ORPHA:27 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hypertriglyceridemia, Hepatic fibrosis, Hypertension, Hepatic steatosis |
ORPHA:280356 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Chronic rhinitis, Elevated hepatic transam... |
ORPHA:79324 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Increased circulating 18-hydroxycortisone level, Increased circulating r... |
OMIM:610600 |
| Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... |
OMIM:300972 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure, Cervical ly... |
OMIM:619573 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Lymphadenop... |
OMIM:619164 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Adenohypophysitis |
|
Amenorrhea, Impotence, Decreased male libido, Decreased circulating cortisol level, Orthostatic h... |
ORPHA:95512 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased prop... |
OMIM:615559 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Sp... |
ORPHA:731 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
| Lcat Deficiency |
|
Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... |
ORPHA:650 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Ataxia, Hyponatremia |
OMIM:618426 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypoc... |
ORPHA:37042 |
| Cd8 Deficiency, Familial |
|
Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Tremor, Gait ataxia, Limb dystonia, Hypert... |
ORPHA:363400 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... |
ORPHA:556037 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... |
ORPHA:556030 |
| Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
| Alg1-Cdg |
|
Decreased liver function, Hypoalbuminemia, Respiratory failure, Cardiomyopathy, Abnormal heart mo... |
ORPHA:79327 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Increased blood urea nitrogen, Reticulocytosis, Schistocytosis, Myocardial ... |
OMIM:274150 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated hyperbilirubin... |
OMIM:214900 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Galactosemia |
|
Ataxia, Action tremor, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in... |
ORPHA:352 |
| Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Normocytic anemia, Hypote... |
ORPHA:85138 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... |
ORPHA:79126 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Hypertriglyceridemia, Secondary amenorrhe... |
ORPHA:2348 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... |
ORPHA:66628 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| Panhypophysitis |
|
Amenorrhea, Impotence, Decreased male libido, Decreased circulating cortisol level, Orthostatic h... |
ORPHA:95513 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
| Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Splenomega... |
OMIM:613490 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
| Galactosemia I |
|
Decreased liver function, Hepatomegaly, Increased level of galactitol in red blood cells, Aminoac... |
OMIM:230400 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... |
ORPHA:470 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... |
ORPHA:179494 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... |
OMIM:613027 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... |
ORPHA:911 |
| Tangier Disease |
|
Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventricular hype... |
ORPHA:31150 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Hypercholesterolemia |
OMIM:301033 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
| Sheehan Syndrome |
|
Amenorrhea, Impotence, Dyspareunia, Decreased circulating cortisol level, Orthostatic hypotension... |
ORPHA:91355 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hepatome... |
OMIM:235200 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Hepatomegaly, Abnormality of the lymph nodes, Decreased circulating apo... |
ORPHA:85450 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Chorea, Choreoathetosis, Neutro... |
ORPHA:289916 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Oligomenorrhea, Impotence, Hypotension |
ORPHA:91354 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... |
OMIM:614034 |
| Primary Membranoproliferative Glomerulonephritis |
|
Myocardial infarction, Hypertension, Hypoalbuminemia |
ORPHA:54370 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:177735 |
| Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... |
ORPHA:90041 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t... |
OMIM:611926 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, Secondary hypera... |
ORPHA:90363 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hepatocellular carcinoma, Abnormal circulating methionine concentration, Elevated circulating cre... |
ORPHA:88618 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level |
OMIM:203400 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly, Aminoaciduria |
OMIM:604273 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| H Syndrome |
|
Amenorrhea, Histiocytosis, Hepatosplenomegaly, Enlarged kidney, Chronic rhinitis, Abnormal cardio... |
ORPHA:168569 |
| Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension, G... |
ORPHA:79319 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia |
OMIM:618806 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis d... |
ORPHA:572 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Pancreatitis, Leukocytosis, Pleural empyema, Brain abscess, Myocarditis, Hemolytic ... |
ORPHA:544482 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Dystonia, Hyponatremia |
ORPHA:163921 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated hepatic transaminase, Keratoconus, Hypoalbuminemia, Decreased circulating cop... |
OMIM:242150 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Congenital Generalized Lipodystrophy |
|
Amenorrhea, Hepatomegaly, Cirrhosis, Increased C-peptide level, Oligomenorrhea, Hypertriglyceride... |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:614727 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Di... |
ORPHA:89842 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphan... |
OMIM:602579 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Werner Syndrome |
|
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... |
OMIM:277700 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of thrombocytes, Jaundice |
ORPHA:172 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Hypotension |
OMIM:264350 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Iris hypopigmentation,... |
ORPHA:79477 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Lymphopenia, Pulmonary insufficiency, B lymphocytopenia, Absence of lymph node germina... |
ORPHA:277 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Vas... |
OMIM:619381 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Anemia, Hepatomegaly, Hyperammonemia |
ORPHA:28 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Pulmonary embolism, Hypertriglyceridemia, ... |
ORPHA:567548 |
| Mcleod Syndrome |
|
Impaired vibration sensation at ankles, Hepatomegaly, Splenomegaly, Elevated circulating creatine... |
OMIM:300842 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomicron concentra... |
OMIM:238600 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head trem... |
ORPHA:64753 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
