| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... |
OMIM:613759 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatomega... |
OMIM:619644 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula... |
ORPHA:567544 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hirsutism, Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutan... |
OMIM:608709 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Atrial s... |
OMIM:614868 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... |
OMIM:615559 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Pulmonary hemo... |
OMIM:616414 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... |
OMIM:619658 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Progressive loss of faci... |
OMIM:613913 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... |
OMIM:613313 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... |
OMIM:613860 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... |
OMIM:615008 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... |
OMIM:613501 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
| Cystic Echinococcosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... |
ORPHA:400 |
| Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss |
ORPHA:930 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Vasculitis in t... |
ORPHA:319552 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss |
ORPHA:64741 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... |
OMIM:608957 |
| Butyrylcholinesterase Deficiency |
|
Abnormal enzyme/coenzyme activity, Respiratory failure requiring assisted ventilation, Myocardial... |
ORPHA:132 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia, Splenomegaly |
OMIM:619437 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... |
ORPHA:369 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... |
ORPHA:36234 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Proteinuria, Gastrointestinal hem... |
ORPHA:91139 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:256020 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles,... |
ORPHA:99931 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... |
OMIM:232400 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failur... |
OMIM:278000 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Long penis, Hypoglycemia, In... |
OMIM:262190 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... |
ORPHA:340 |
| Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... |
OMIM:619662 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Alopecia, Eczema, Decreased prealbumin level, Pneumonia, Failure... |
ORPHA:37042 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic f... |
OMIM:619111 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy, Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
| Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... |
ORPHA:275555 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis... |
OMIM:618999 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... |
OMIM:231100 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eczema, Eosinophilia, Glomerulonep... |
OMIM:304790 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
| Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria, Hypertension |
OMIM:189800 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
| Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Reversible renal failure, Non-caseating epithelioid cell granulomat... |
OMIM:607665 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Porphyria Cutanea Tarda, Type I |
|
Eczema, Hepatic fibrosis |
OMIM:176090 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic sinusitis, O... |
ORPHA:443811 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormal proportion of naive CD4 T cells, Proteinuria, Transient ischemic attack, S... |
ORPHA:1830 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... |
OMIM:619902 |
| C3 Glomerulopathy 3 |
|
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:614809 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria |
OMIM:314000 |
| Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Viral hepatitis, Colitis, Recurrent ... |
OMIM:209920 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recu... |
OMIM:240500 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Bruising susceptibi... |
OMIM:619484 |
| Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Increas... |
ORPHA:3325 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... |
OMIM:603471 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronch... |
OMIM:607594 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... |
OMIM:615382 |
| Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Pleuritis, Lupus nephritis, Malar rash, Peric... |
OMIM:152700 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
| Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... |
ORPHA:75566 |
| Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Flexion contract... |
ORPHA:77297 |
| Immune Deficiency Disease |
|
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... |
OMIM:603278 |
| Thymoma |
|
Rheumatoid arthritis, Neoplasm of the lung, Myositis, Aplastic anemia, Cough, Imbalanced hemoglob... |
ORPHA:99867 |
| Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Proteinuria, Glomerulopathy, Hepatic steatosis... |
ORPHA:79087 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculi... |
OMIM:243700 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, P... |
ORPHA:1304 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... |
OMIM:613493 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
| Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Fulminant hepatit... |
ORPHA:2137 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocyto... |
OMIM:619375 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Hepa... |
OMIM:615415 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... |
ORPHA:183675 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomeg... |
OMIM:618955 |
| Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... |
OMIM:616589 |
| Scedosporiosis |
|
Unusual skin infection, Opportunistic fungal infection, Sinusitis, Unusual CNS infection, Osteomy... |
ORPHA:449280 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
| Transaldolase Deficiency |
|
Asthma, Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Spl... |
OMIM:606003 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Eczema, Lymphadenitis, Cholestasis, H... |
OMIM:615895 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
| Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic fibrosis, Port... |
ORPHA:79319 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly |
OMIM:607624 |
| Immunodeficiency 23 |
|
Asthma, Failure to thrive, Lymphopenia, Vasculitis in the skin, Eczema, Membranoproliferative glo... |
OMIM:615816 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
| Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
| Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... |
ORPHA:90060 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
| Polymyositis |
|
Hepatomegaly, Myocardial infarction, Gastrointestinal hemorrhage, Weight loss, Pericarditis, Elev... |
ORPHA:732 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Supernumerary nipple, Inguinal hernia, Chronic tubulointerstitial nephritis, Renal ... |
OMIM:614376 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Increased inflammatory... |
ORPHA:183 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
| Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
| Pauci-Immune Glomerulonephritis |
|
Abnormality of the pulmonary vasculature, Small vessel vasculitis, Pancreatitis, Decreased glomer... |
ORPHA:93126 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase conc... |
ORPHA:330001 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Recurrent skin infections, Recurrent ba... |
OMIM:612840 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... |
OMIM:209950 |
| Al Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... |
ORPHA:85443 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
| Cocaine Intoxication |
|
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Pneumothor... |
ORPHA:90068 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia |
OMIM:618857 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Low neutrophil alkaline phosphatase |
OMIM:245480 |
| Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cys... |
ORPHA:723 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... |
ORPHA:563 |
| Thymic Aplasia |
|
Recurrent candida infections, Sinusitis, Recurrent streptococcus pneumoniae infections, Recurrent... |
ORPHA:83471 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Ret... |
ORPHA:3261 |
| C1Q Deficiency |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... |
OMIM:612692 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial ... |
ORPHA:54057 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney diseas... |
OMIM:301006 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Ne... |
OMIM:617303 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Rig... |
OMIM:613404 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Elevated hepatic transamina... |
ORPHA:79230 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis |
OMIM:614380 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly |
OMIM:271500 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Bacterial endocarditis, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... |
ORPHA:2038 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
| Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Elevated circulating alkaline phosphatase concentrati... |
ORPHA:186 |
| Felty Syndrome |
|
Hepatomegaly, Weight loss, Pericarditis, Rhinitis, Cellulitis, Splenomegaly, Recurrent urinary tr... |
ORPHA:47612 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... |
ORPHA:99103 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatomegaly, Recurrent cutaneous ... |
ORPHA:276 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
| Systemic Sclerosis |
|
Alopecia, Myocarditis, Proteinuria, Pericarditis, Albuminuria, Osteomyelitis, Flexion contracture... |
ORPHA:90291 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... |
ORPHA:370 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Hypocalcemia, Cellulitis, Alopecia, Skin rash, Anemi... |
ORPHA:47 |
| Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Anemia, Leukopenia, Chronic otitis media, Abnormality of neutrophil... |
ORPHA:33355 |
| Galactosemia I |
|
Failure to thrive, Increased level of galactitol in urine, Decreased liver function, Increased le... |
OMIM:230400 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent candida infections, Sinusitis, Recurrent fungal infecti... |
ORPHA:572 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
| Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... |
OMIM:300972 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Abnormal erythrocyte en... |
ORPHA:264580 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Hematuria, Elevated ... |
ORPHA:49041 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Systolic... |
ORPHA:99104 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... |
OMIM:619487 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia,... |
ORPHA:2134 |
| Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... |
ORPHA:79128 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Men... |
ORPHA:829 |
| Legionnaires Disease |
|
Pancreatitis, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Abnormal lung morp... |
ORPHA:549 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Hyperlipidemia, Hypertension, Macroscopic hematuria, Pulmonary embolism, ... |
ORPHA:567546 |
| Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
| Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Anemia... |
ORPHA:100024 |
| Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
| Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Recurrent bacterial infections, Cough,... |
ORPHA:36412 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... |
ORPHA:79127 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Eosinophilic Fasciitis |
|
Muscular edema, Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Arthritis, Fa... |
ORPHA:3165 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... |
ORPHA:567983 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
| Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... |
ORPHA:139402 |
| Goodpasture Syndrome |
|
Increased DLCO, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Glomerular crescent fo... |
OMIM:233450 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Respirato... |
OMIM:613845 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... |
ORPHA:2902 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Enamel hypoplasia, Focal segmental glomerul... |
OMIM:618349 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... |
ORPHA:439232 |
| Whim Syndrome 1 |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
| Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hematemesis, Hepatomegaly, Hepatic failure, Abnormal bl... |
ORPHA:480520 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... |
ORPHA:911 |
| Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hy... |
ORPHA:2088 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... |
ORPHA:75249 |
| Oculopharyngodistal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... |
ORPHA:98897 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... |
ORPHA:50251 |
| Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Fine hair, Synophrys, Proteinuria, Glomerulonephritis, Glomerula... |
OMIM:619428 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice |
ORPHA:79238 |
| Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... |
OMIM:610984 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... |
ORPHA:169090 |
| Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Elevated circulating long... |
ORPHA:228302 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... |
ORPHA:101330 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Nep... |
ORPHA:2298 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circulating asparta... |
OMIM:615486 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... |
ORPHA:1302 |
| Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... |
ORPHA:781 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
| Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Renal insufficiency, Glomerulo... |
ORPHA:225 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis,... |
ORPHA:3099 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Granulomatosis With Polyangiitis |
|
Angina pectoris, Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis medi... |
ORPHA:900 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... |
ORPHA:99845 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Small for gestational age, H... |
OMIM:609015 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Pulmonary edema, Leukocytosis, Abnormal renal tubule morphology, Arrhythmia, Myocar... |
ORPHA:188 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Elevated circulating alkaline phosphatase concentration, ... |
ORPHA:247691 |
| Scrub Typhus |
|
Skin rash, Splenomegaly, Abnormal bleeding, Hypotension, Myocarditis, Cough, Anterior uveitis, Me... |
ORPHA:83317 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Hypertension, Abnormal... |
ORPHA:767 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... |
OMIM:251880 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, D... |
ORPHA:3386 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
| Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Increased circulating antibody level, Abnormal pulm... |
ORPHA:289390 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Atrial septal defect, Ele... |
OMIM:620005 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Dark uri... |
ORPHA:93552 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:306400 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Pneumonia, Increased circulating free fatty acid level, Jaund... |
ORPHA:26793 |
| Eosinophilic Gastroenteritis |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Atopic ... |
ORPHA:2070 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Hepatic fibr... |
OMIM:615630 |
| Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... |
ORPHA:133 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Respiratory arrest, Periportal fibrosis, Necrotizing enter... |
OMIM:201475 |
| Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Hematuria, Vasculitis, Cough, Arthritis, Renal insufficiency, Proteinu... |
ORPHA:375 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... |
OMIM:614455 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Respiratory insufficiency, Hematuria, Weight loss, Hyperca... |
ORPHA:69077 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... |
OMIM:245900 |
| Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hepatic failure, Abnormal bleeding, Sepsis, Hypotension, Myocard... |
ORPHA:292 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, H... |
ORPHA:171876 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Anemia, Ple... |
ORPHA:67 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Failure to thrive, Renal tubular dysfunction, Decreased liver function, Hep... |
OMIM:220110 |
| Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated gamm... |
OMIM:619481 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
| Joubert Syndrome 9 |
|
Apnea, Hepatic fibrosis, Episodic tachypnea |
OMIM:612285 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia, Lacticaciduria, Respiratory insufficiency, Methylmalonic aciduria... |
OMIM:245400 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
| Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Prolonged neonatal jaundic... |
OMIM:301068 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi... |
ORPHA:230 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Elevated circulating alkali... |
ORPHA:98850 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Elevated creatine kinase after exercise, EMG: myopat... |
ORPHA:57 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis,... |
OMIM:147060 |
| Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough |
ORPHA:70482 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
ORPHA:169079 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Decreased liver function, Hepatomegaly, Aminoacidur... |
ORPHA:436271 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Hypothermia,... |
ORPHA:94093 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections |
OMIM:609536 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... |
ORPHA:79240 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Abnormality of the k... |
ORPHA:54251 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Decreased body weight, Focal segmental glomerulosclerosis, Proteinuria, Hypoa... |
OMIM:618347 |
| Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Pneumoni... |
OMIM:603554 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Gastrointestinal hemorrhage, Spontaneous pneumot... |
ORPHA:731 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, St... |
OMIM:242900 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Decre... |
OMIM:618913 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly,... |
ORPHA:84064 |
| Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular ... |
ORPHA:231226 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Apnea, Cerebral hemorrhage, Leukocytosis, Lymphaden... |
OMIM:618886 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:157 |
| Bronchial Neuroendocrine Tumor |
|
Asthma, Hepatomegaly, Tricuspid regurgitation, Increased circulating cortisol level, Nonproductiv... |
ORPHA:97287 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Pulmonary venous occlusion... |
ORPHA:2260 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Hyperglycemia |
OMIM:175700 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Recurren... |
OMIM:610199 |
| Antisynthetase Syndrome |
|
Telangiectasia of the skin, Skin rash, Respiratory insufficiency, Myositis, Myocarditis, Cough, A... |
ORPHA:81 |
| Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... |
ORPHA:30391 |
| Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... |
ORPHA:2688 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Chronic kidney disease, Absent eyebrow, F... |
OMIM:137940 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure |
ORPHA:2724 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Small for gestational age, Mucopolysaccharid... |
OMIM:215250 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hy... |
ORPHA:1345 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E... |
ORPHA:228305 |
| Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated hepatic transa... |
OMIM:216360 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Megaloblastic anemia, Neutropenia, Hypersegmentation of neutrophil nuclei, Ret... |
ORPHA:35858 |
| Takayasu Arteritis |
|
Hypertension, Anemia, Hypertrophic cardiomyopathy, Vasculitis, Arthritis, Cerebral ischemia, Myoc... |
ORPHA:3287 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Long penis, Fasting hypoglycemia, Hyperglycemia |
OMIM:246200 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, C... |
ORPHA:3226 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Sepsis, Recurrent bacterial infe... |
OMIM:308230 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hypertrichosis, Airway obstruction, Heparan sulfate excretion in urine, Enl... |
ORPHA:505248 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
| Pulmonary Alveolar Microlithiasis |
|
Increased circulating surfactant protein level, Hepatomegaly, Hematuria, Hypoxemia, Weight loss, ... |
ORPHA:60025 |
| Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Anemia, Proximal muscle weakness ... |
ORPHA:905 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Abnormal bleeding, Cirrhosis, Hepatic fibrosis |
OMIM:602579 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss |
OMIM:612075 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Gastritis, Skin rash, Splenomegaly, Myositis, Myocarditis, Arthritis, Keratoconjunc... |
ORPHA:809 |
| Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cho... |
OMIM:618156 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:834 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Exercise-induced rhabdo... |
ORPHA:284426 |
| Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Lymphatic Filariasis |
|
Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the kidney, Lymphadenitis, Hem... |
ORPHA:2035 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Hyperglycemia |
OMIM:615986 |
| Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
| Alveolar Echinococcosis |
|
Abnormal skeletal muscle morphology, Hepatic cysts, Weight loss, Jaundice, Pancreatic cysts, Incr... |
ORPHA:284 |
| Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria, Lipodystrophy, Elevated hepatic transaminase, Hep... |
ORPHA:300536 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:608612 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
| Beta-Thalassemia Major |
|
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, ... |
ORPHA:231214 |
| Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss, Elevated carcinoembryonic antigen level |
ORPHA:100083 |
| Yao Syndrome |
|
Nephrolithiasis, Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis si... |
OMIM:617321 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... |
ORPHA:79259 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Hepatomegaly... |
ORPHA:331206 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hyperammonemia, Elev... |
ORPHA:159 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... |
OMIM:607426 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, My... |
ORPHA:157973 |
| Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... |
ORPHA:31205 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Pleuritis, Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Farber Disease |
|
Respiratory distress, Abnormal enzyme/coenzyme activity, Hepatic failure, Respiratory insufficien... |
ORPHA:333 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Hepatomegaly, Prolonged neonatal jaundice, Inguinal hernia, Splenomegaly, Elev... |
OMIM:619525 |
| Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Urinary excretion of sialyla... |
OMIM:256550 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
| Alport Syndrome |
|
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... |
ORPHA:63 |
| Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, General... |
ORPHA:79086 |
| Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... |
OMIM:617575 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elevated c... |
ORPHA:263455 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infecti... |
ORPHA:486 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Congestive heart failure |
ORPHA:66631 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG... |
OMIM:212065 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
| Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... |
ORPHA:84081 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia |
OMIM:220111 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... |
OMIM:612541 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss |
ORPHA:42642 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Hyperammonemia, Eczema, Keratoconjunctivitis, Tachypnea, Perioral... |
ORPHA:79242 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Liver abscess, Recurrent staphylococcal infections |
OMIM:607676 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:228308 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Hematuria, Vasculitis, Arthritis, Proteinuria, Renal... |
ORPHA:91138 |
| Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Recurrent myoglobinuria, Chronic kid... |
ORPHA:368 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
| Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration, Myositis |
ORPHA:48918 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrioventricular canal defect, Hepatic failure, Sepsis, Elevated circulating aspart... |
OMIM:619573 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... |
ORPHA:422 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
| Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... |
ORPHA:352479 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hepatomegaly, Anemia, Respiratory insufficiency, Hernia, Patent ductus arterio... |
ORPHA:1842 |
| Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Hypoxemia, Hypertensi... |
OMIM:603903 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Inflammatory abnormality of the skin, Hypophosphatemia, Hypocalcemia, Hypoprotein... |
ORPHA:398063 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Hypoglycemia, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
