| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Primary a... |
OMIM:612526 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Reduced systolic function, Microcytic anemia, Elevated circulating alanin... |
OMIM:618805 |
| Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade... |
OMIM:209950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, At... |
OMIM:603553 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy |
OMIM:246650 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Ataxia, Neutropenia |
OMIM:616949 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Restr... |
OMIM:619013 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Oligomenorrhea, Hepatic steatosis |
OMIM:613877 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper... |
ORPHA:1667 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Re... |
OMIM:620282 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Thrombocytopenia, Respiratory insufficiency, Increased blood urea nit... |
OMIM:613845 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... |
ORPHA:182050 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Respiratory i... |
ORPHA:549 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly |
OMIM:269840 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
| Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory insufficienc... |
ORPHA:79273 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,... |
OMIM:608104 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thromb... |
ORPHA:292 |
| Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Hyperkalemia, Int... |
OMIM:617053 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Irregular menstruation, Hepatic steatosis, Inc... |
OMIM:615238 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Ataxia, Myocardial infarct... |
ORPHA:3452 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... |
ORPHA:167 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... |
OMIM:245900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cataract, Ataxia, Anemia, Ascites, Thrombocytopenia |
ORPHA:79325 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:2070 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:540 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Neonatal... |
ORPHA:79237 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory... |
ORPHA:449285 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue |
ORPHA:71529 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Oligomenorrhea, ... |
ORPHA:79085 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Apnea, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hy... |
ORPHA:391673 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... |
OMIM:606069 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Sp... |
OMIM:222470 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... |
ORPHA:100924 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... |
OMIM:617872 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ... |
OMIM:607250 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... |
ORPHA:158048 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... |
OMIM:226300 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... |
ORPHA:85443 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p... |
ORPHA:14 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Preeclampsia |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated diastolic ... |
ORPHA:275555 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Congestiv... |
ORPHA:367 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Dysp... |
ORPHA:67 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Somatic sensory dysfunction, Tachycardia, Abnormal c... |
ORPHA:79473 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
| Intrinsic Factor Deficiency |
|
Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me... |
OMIM:261000 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Congesti... |
OMIM:617303 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... |
ORPHA:94093 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Increased circulating free fatty acid level |
ORPHA:293964 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Immunodeficiency 43 |
|
Lung abscess, Bronchiectasis, Hypoalbuminemia, B lymphocytopenia, Decreased circulating beta-2-mi... |
OMIM:241600 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... |
OMIM:610539 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Tachyp... |
ORPHA:71275 |
| Shigellosis |
|
Hyponatremia, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion conc... |
ORPHA:810 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Ataxia, Hepatomegaly |
ORPHA:2274 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Hepatosplenomegaly, Cirrho... |
ORPHA:263501 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Recurrent tonsilli... |
ORPHA:171876 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbum... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbum... |
ORPHA:529799 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Prematu... |
ORPHA:199299 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Hypertension, Astigmat... |
ORPHA:97362 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am... |
OMIM:277900 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Anisocytosis,... |
OMIM:618278 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly, Lymph... |
OMIM:617591 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... |
OMIM:208920 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Ja... |
OMIM:608885 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Myocarditis, Leukocytosis, Congestive heart failure, Hypovole... |
ORPHA:31824 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac... |
OMIM:607330 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... |
OMIM:619487 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Dyspnea, Microangiopathic hemolytic anemia, Decreased ser... |
ORPHA:54057 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopath... |
ORPHA:79312 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Cerebral vasculitis |
ORPHA:83601 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda... |
ORPHA:79083 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, ... |
OMIM:212065 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
| Alg6-Cdg |
|
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia |
ORPHA:79320 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Abscess, Elevated circulating cre... |
ORPHA:36234 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
| D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations, Distal se... |
ORPHA:488650 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cryptorchidism, Muscular ventricular septal defect, ... |
ORPHA:79324 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, O... |
ORPHA:95409 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypertension, Normochromic anemia, Increased circul... |
ORPHA:95613 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Respiratory insufficiency, Hyperammone... |
ORPHA:27 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased me... |
ORPHA:90041 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Congestive heart fa... |
ORPHA:505248 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia |
ORPHA:57 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ... |
OMIM:610600 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... |
ORPHA:95512 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Elevated hepatic transaminase, Autoimmune hemolytic anemia, Pneumonia, Auto... |
ORPHA:37042 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Hypoalbuminemia, Decreased liver ... |
ORPHA:79327 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary... |
ORPHA:66628 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Gait ataxia, Hypertension, Respiratory failur... |
ORPHA:363400 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Acute Interstitial Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Pericardial effusion, Nonproduct... |
ORPHA:79126 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Amenorrhea, Oligomenorrhe... |
ORPHA:528 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary... |
ORPHA:179494 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obs... |
OMIM:613490 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Dystonia, Chorea, Hyperammonemia, Anemia, Choreoathetosis, Ne... |
ORPHA:289916 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda... |
ORPHA:2348 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, ... |
OMIM:274150 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... |
ORPHA:95513 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffic... |
ORPHA:85138 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Impaired proprioception, Ste... |
ORPHA:71 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Impotence, Oligomenorrhea, Hypotension |
ORPHA:91354 |
| Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... |
OMIM:610505 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Gastrointestinal hemorrhage |
ORPHA:2494 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration,... |
OMIM:614034 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Orthost... |
ORPHA:91355 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypertension, Hypokalemia, Aminoaciduria, Hypoc... |
OMIM:617913 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Aminoaciduria, Anisocytosis |
OMIM:604273 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Right ventricular failure, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recurrent pneumo... |
OMIM:617718 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascular system physiology, Bronchiectasi... |
ORPHA:168569 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:177735 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract, Retinal telangiectasia |
OMIM:620157 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Ataxia, Dystonia |
ORPHA:163921 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Corneal erosion, Dilated cardi... |
ORPHA:89842 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hyperammonemia, Respiratory insufficiency, Hepatomegaly |
ORPHA:28 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Elevated c... |
OMIM:300842 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypotension, Prolong... |
ORPHA:199296 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepati... |
ORPHA:171 |
| Werner Syndrome |
|
Hypertriglyceridemia, Cataract, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:277700 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Cardiomegaly, Atrioventricular block, Left bundle branch block, Hypoalbumi... |
ORPHA:75565 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Keratoconus, Decreased circulating ceruloplasmin concentration, De... |
OMIM:242150 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Pleural effusi... |
OMIM:254900 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Hypotension |
OMIM:264350 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... |
OMIM:619381 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Apnea |
OMIM:240200 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Mi... |
OMIM:619418 |
| Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... |
OMIM:616737 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Hemolytic anemia, Hypertensive crisis, Pneumonia, Dyspnea, Leukocyto... |
ORPHA:544482 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Hypergalactosemia |
OMIM:230350 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepatic failure, Lymphan... |
OMIM:602579 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... |
ORPHA:567548 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hematochezia, Hypoalbum... |
OMIM:618183 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Bilateral cryptorchidism, Elbow flexion contracture... |
OMIM:618156 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Incre... |
ORPHA:77293 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal asphyxia, Cryptorchidism, Hyperkalem... |
ORPHA:90791 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... |
OMIM:269920 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Dystonia, Respiratory insufficiency, Hepatomegaly |
ORPHA:139406 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Giant platele... |
ORPHA:274 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red ce... |
OMIM:613179 |
| Japanese Encephalitis |
|
Respiratory distress, Hyponatremia, Neutrophilia, Tremor, Opisthotonus, Choreoathetosis, Pill-rol... |
ORPHA:79139 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:203800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesicular hepatic s... |
OMIM:608836 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoa... |
OMIM:616267 |
| Temple Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Flexion contracture, Hypercholesterolemia, Decreased testic... |
OMIM:616222 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... |
ORPHA:108 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Giant platelets, Anemia, Left ventricular hypertrophy, Thrombocytopenia |
OMIM:611209 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Dystonia, Thrombocytopenia |
OMIM:615010 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T... |
ORPHA:277 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Pneumonia, Nodular regenerative hyperplasia of li... |
ORPHA:247691 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten... |
ORPHA:178478 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Respiratory insufficiency |
ORPHA:1954 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opaci... |
ORPHA:1764 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
| Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit... |
ORPHA:2169 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Male infertility, Splenomegaly, Corneal crystals, Reduced blood urea ... |
OMIM:219800 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Bronchiecta... |
OMIM:301082 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ventricular sept... |
OMIM:615673 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, C... |
ORPHA:79239 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... |
OMIM:300400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Irregular men... |
ORPHA:79259 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Respiratory insuffic... |
OMIM:613658 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Apnea, Cerebellar hemorrhage, Tachypnea, Hyperglycinuria, H... |
OMIM:606054 |
| Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia... |
ORPHA:217260 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Hypoventilation, Cataract, Retinal telangiectasia, Tracheomalacia |
OMIM:620155 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca... |
OMIM:613327 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:230200 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
OMIM:232400 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated circulating creatinine concentration, Re... |
ORPHA:230 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Thrombocytopenia, Cryptorchidism, Abnorma... |
ORPHA:534 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulat... |
OMIM:610377 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... |
ORPHA:721 |
| Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the ... |
ORPHA:2162 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... |
OMIM:604290 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Ataxia, Elevated circulating alpha-f... |
OMIM:208900 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Mitr... |
OMIM:612561 |
| Cholera |
|
Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypovolemic ... |
ORPHA:173 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... |
OMIM:619046 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Testicular adre... |
ORPHA:361 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Sinusitis, Aplastic anemia, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Neonatal respiratory distress, Hypoalbuminemia, Hyperlipidemia |
OMIM:256300 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Cryptorchidism... |
OMIM:300200 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Left ventricular hypertrophy, Elevated circulating creatinine... |
OMIM:616733 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female libido, Ab... |
ORPHA:330015 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... |
ORPHA:340 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Pneumonia, Abnormal circulating fatty... |
ORPHA:2298 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid conc... |
OMIM:614307 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ... |
OMIM:602088 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, M... |
OMIM:618329 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... |
ORPHA:99828 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia |
OMIM:601457 |
| Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Abnormal blood inorganic cation concentrat... |
ORPHA:309854 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia... |
OMIM:251000 |
| Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Jaundice, Anemi... |
ORPHA:290 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Ker... |
ORPHA:331235 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangem... |
ORPHA:244 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Tremor, Increased total... |
OMIM:613280 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
ORPHA:565612 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Somatic sensory dysfunction, Tachycardia, Tremor, Respiratory insufficiency, Hypert... |
ORPHA:79276 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect |
OMIM:608688 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Abnormal heart morphology, Hematochezia, Melena, ... |
ORPHA:79076 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... |
OMIM:617744 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal circu... |
OMIM:615980 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pn... |
OMIM:127550 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Pneumonia, Jaundice, Hyperkalemia, Macroorchi... |
ORPHA:90790 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Pro... |
ORPHA:398124 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubine... |
OMIM:617156 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Restrictive ventilatory defect, Cataract, Elevated circulating creatinine concentration, Hepatome... |
OMIM:614376 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... |
ORPHA:2585 |
| Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, J... |
ORPHA:444490 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa... |
ORPHA:186 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc... |
ORPHA:858 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Impaired pain sensation, Hypertriglyceridemia, Abnormal heart morphology |
OMIM:182290 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Impaired pain sensation, Limb atax... |
OMIM:616719 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Crackles, Sinu... |
ORPHA:466650 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating c... |
OMIM:608799 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Dystonia, Cardiac arrest, Splenomegaly, Cough, Abnormal patte... |
ORPHA:77260 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hematochezia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre... |
OMIM:618885 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration, Respiratory insuffi... |
OMIM:615352 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, Decreased liver function, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
| Atelis Syndrome 1 |
|
Cataract, Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Th... |
OMIM:620184 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... |
OMIM:618495 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
| Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Dystonia, Hyperkalemia, Limb ataxia, Choreoathetosis, Hypertension... |
OMIM:617595 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia, Corneal opacity |
ORPHA:79396 |
| Sengers Syndrome |
|
Premature ovarian insufficiency, Cataract, Cardiac arrest, Sudden cardiac death, Respiratory insu... |
OMIM:212350 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Decreased ferti... |
ORPHA:168558 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Corneal scarring, Hypertension, H... |
OMIM:610965 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:256550 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con... |
OMIM:619048 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Decreased ferti... |
ORPHA:289548 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... |
ORPHA:83471 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... |
OMIM:603909 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormali... |
ORPHA:254864 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Thrombocytopenia, Hyperlipidemia, Congestive heart fa... |
ORPHA:1830 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenomegaly,... |
OMIM:612840 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergo... |
ORPHA:2959 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Angina pectoris, Splenome... |
ORPHA:79292 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Elevated hepatic transaminase, Hepatomegaly, Respirat... |
OMIM:613561 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis |
ORPHA:217390 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platel... |
OMIM:603585 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:608594 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Neonatal hyp... |
ORPHA:3008 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Restrictive ventilatory defect, Cataract, Elevated circulating creatine kinase concentration, Hep... |
OMIM:615704 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Abnormality of the lymphatic system, Abnormal heart morphology, T... |
ORPHA:487796 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, Cirrhosis, Abnormal ... |
ORPHA:79086 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... |
ORPHA:508533 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis |
OMIM:121300 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hypertension, Hyperuricemia, Action tremor |
ORPHA:77296 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Vici Syndrome |
|
Atrial septal defect, Cataract, Left ventricular hypertrophy, Elevated circulating creatine kinas... |
OMIM:242840 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dysp... |
ORPHA:90037 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Ataxia, Tremor, Splenomegaly, Dyspnea, Ascites |
ORPHA:87876 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Reduced natural killer ce... |
OMIM:618108 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Cach Syndrome |
|
Premature ovarian insufficiency, Cataract, Nonketotic hyperglycinemia, Secondary amenorrhea, Hepa... |
ORPHA:135 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Decreased liver function |
ORPHA:570422 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Methylmalonic acidemia, Pancytopenia, Hepatomegaly, Hyperammonemia, Anemia,... |
OMIM:251110 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive protei... |
ORPHA:90051 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Dyspnea, Hyperlipidemia, Hydrocele testis, Hypertension, Hypoalbuminemia, Ple... |
ORPHA:567546 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Asthma, Micronodular cirrhos... |
OMIM:606003 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respiratory failure, Redu... |
OMIM:609981 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... |
ORPHA:397596 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactiv... |
OMIM:615688 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:212140 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Bronchiectasis, Cough |
OMIM:619468 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Asthma, Jaundice,... |
OMIM:612714 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Decreased liver fu... |
OMIM:246900 |
| Hereditary Methemoglobinemia |
|
Limb dystonia, Athetosis, Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Chorea, Right ventricular dilatation, Rest... |
ORPHA:369840 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Increased serum pyruvate, Elevate... |
OMIM:500009 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Hyperammonemia, Hyp... |
ORPHA:254913 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... |
ORPHA:400 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hypertension, Ch... |
OMIM:270400 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:301056 |
| Caspase 8 Deficiency |
|
Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin conce... |
OMIM:222700 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... |
ORPHA:99845 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... |
ORPHA:542323 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hig... |
OMIM:251900 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Methylmalonic acidemia, Pancytopenia, Hepatomegaly, Tremor, Hyperammonemia,... |
OMIM:251100 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Asthma, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibr... |
OMIM:619377 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Tremor |
OMIM:612736 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Hepato... |
OMIM:260400 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites, Increased to... |
ORPHA:890 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Jaundice, Hyperammonemia, Hyperprolinemia, H... |
OMIM:615751 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites, Respiratory insufficiency |
ORPHA:1046 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Hyperkalemia... |
ORPHA:423 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... |
ORPHA:447 |
| Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elev... |
ORPHA:99829 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Aminoaciduria, Hypopho... |
OMIM:239200 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... |
ORPHA:79301 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathio... |
OMIM:277380 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Steatorrhea, Hepatic failure, Anemia |
ORPHA:75233 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... |
ORPHA:443811 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... |
OMIM:602347 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Cataract, Ataxia |
ORPHA:251009 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Ataxia, Cardiac arrest, L... |
ORPHA:20 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Hy... |
OMIM:230800 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Apnea, Brushfield spots, Cryptorchidism,... |
OMIM:214110 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79332 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneu... |
OMIM:613807 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Hyperthreoninuria, Hyperthreoninemia |
OMIM:204000 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hy... |
OMIM:235555 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab... |
ORPHA:2479 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
| Smith-Magenis Syndrome |
|
Microcornea, Hypercholesterolemia, Hypertriglyceridemia, Impaired pain sensation |
ORPHA:819 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
| Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:2584 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Cor pulmonale, Br... |
OMIM:300755 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Emph... |
ORPHA:324 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ... |
ORPHA:2394 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Ataxia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma, D... |
OMIM:251300 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Abnorma... |
ORPHA:90794 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
| Mevalonic Aciduria |
|
Splenomegaly, Cataract, Ataxia |
ORPHA:29 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... |
ORPHA:77259 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperammonemia, Hyperuricemia, Anemia, Hepatomegaly |
OMIM:246450 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, H... |
ORPHA:401923 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Lymph... |
ORPHA:47612 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Elevated hepatic transaminase, Central hypoventilation, Impaired p... |
ORPHA:293987 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia |
OMIM:174000 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Microcytic anemia, Pulmonary embolism, Abnormality of ... |
ORPHA:90308 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, Hypok... |
OMIM:618426 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increase... |
ORPHA:261250 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, D... |
ORPHA:124 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cataract, Ataxia, Cryptorchidism, Dilated cardiomyopathy, Dysmetria, Dysdiadochokine... |
OMIM:616541 |
| Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia, Telangiect... |
OMIM:604173 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di... |
ORPHA:276556 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Posterior embryotoxon, Hypertriglyceridemia, Ventricular septal de... |
OMIM:118450 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di... |
ORPHA:276575 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia |
OMIM:610163 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypot... |
ORPHA:134 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Developmental cataract, Lacunar stroke... |
OMIM:618440 |
| Neuhauser Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea |
OMIM:249310 |
| C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... |
OMIM:619127 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circul... |
ORPHA:50918 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg... |
OMIM:201475 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Severe B ly... |
OMIM:620005 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointes... |
OMIM:276700 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin... |
OMIM:620138 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phe... |
OMIM:613471 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:615122 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... |
ORPHA:464453 |
| Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase c... |
ORPHA:261476 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Cough, Jaundice, Lymph node hypop... |
ORPHA:276 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase... |
OMIM:619055 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... |
ORPHA:101096 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia |
OMIM:619423 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... |
OMIM:251290 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
OMIM:212138 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creat... |
ORPHA:79095 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Cryptorchidism |
ORPHA:96184 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
| Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Ataxia, Elevated circulating phytanic acid concentration, Cardiomyopathy,... |
ORPHA:772 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Asthma, Male hypogonadism, Astigmatism, ... |
OMIM:619471 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Hepatosp... |
ORPHA:168577 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Leukopenia, Abnorma... |
ORPHA:1304 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Thrombocytopenia, Spleno... |
ORPHA:464329 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypopla... |
OMIM:612541 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymp... |
ORPHA:39041 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating... |
ORPHA:89938 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Ataxia, Dystonia, Tremor, Congestive heart failure, Recurrent pne... |
OMIM:616271 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ... |
ORPHA:97292 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Recurrent pneumonia, Persistence of hemoglobin F, Astigmatism, Increas... |
OMIM:619769 |
| Pauci-Immune Glomerulonephritis |
|
Dyspnea, Elevated circulating creatinine concentration, Granulomatosis, Arteritis, Cough, Small v... |
ORPHA:93126 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protei... |
OMIM:612852 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... |
OMIM:616005 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatos... |
ORPHA:99931 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicu... |
OMIM:201100 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Cryptorchidism, Congestive heart failure, Hype... |
ORPHA:1194 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... |
OMIM:616100 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Keratitis, Splenomegaly, Neonat... |
ORPHA:525731 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, ... |
ORPHA:79456 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Cataract, Ataxia, Dystonia, Hyperammonemia, Choreoathetosis, Arrhy... |
OMIM:615471 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiad... |
OMIM:238970 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Achalasia, B lymphocytopenia, Recurrent sinu... |
OMIM:618969 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Congesti... |
ORPHA:98908 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency |
OMIM:618042 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Restrictive ventilatory defect, Conjunctivitis, Anemia |
ORPHA:575 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Athetosis, Hypokalemia, Hypertension, Secon... |
OMIM:615474 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Cataract, Anemia, Hepatomegaly |
ORPHA:2930 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Sh... |
ORPHA:79102 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Dyspnea, Heart murmur, Left ventric... |
OMIM:615418 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Respiratory insufficiency due to muscle we... |
ORPHA:97282 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Apnea, Tremor, Cryptorchidism, Jaundice, Respiratory ins... |
OMIM:608093 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Cardiomyopathy, Testicular ... |
OMIM:222300 |
| Essential Thrombocythemia |
|
Transient ischemic attack, Abnormality of thrombocytes, Myocardial infarction, Splenomegaly, Abno... |
ORPHA:3318 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
ORPHA:228305 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypoc... |
ORPHA:391 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio... |
OMIM:616084 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Ataxia, Tremor, Cryptorchidism, Hypertensi... |
ORPHA:90321 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Pneumonia, Aplasi... |
OMIM:102700 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:2089 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Bronchiectasi... |
ORPHA:391487 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... |
ORPHA:1572 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cataract, Pneumothorax, Opisthotonus, Choreoathetosis, Cardiomyopa... |
ORPHA:445038 |
| Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Ataxia, Pericardial effusion, Dyspnea, Splenomegal... |
ORPHA:36412 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
| Optic Atrophy 11 |
|
Ataxia, Splenomegaly, Dysmetria, Athetosis, Mildly elevated creatine kinase |
OMIM:617302 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Respirato... |
OMIM:615512 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Ataxia, Hepatosplenomegaly |
ORPHA:309288 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Hepatomegaly |
OMIM:228000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Pericardial... |
OMIM:615846 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Pneumonia, Chronic neutro... |
OMIM:614700 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Prolonged neonatal jaundice, Macroorchidism, Hypercholesterolemia, Abnormal circulat... |
ORPHA:90674 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Transient hyperlipidemia, Arrh... |
ORPHA:156 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Dyspnea,... |
ORPHA:809 |
| Immunodeficiency 92 |
|
Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhini... |
OMIM:617577 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Galloway-Mowat Syndrome 3 |
|
Hypertension, Hypoalbuminemia |
OMIM:617729 |
| Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis |
OMIM:618948 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,... |
ORPHA:169090 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Biotinidase Deficiency |
|
Hepatomegaly, Apnea, Ataxia, Splenomegaly, Tachypnea, Hyperammonemia, Conjunctivitis |
OMIM:253260 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... |
ORPHA:1655 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spi... |
ORPHA:2137 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Impaired ADP-ind... |
OMIM:608233 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Ventricular arrhythmia, Dyspnea, Abnormal left ventricular funct... |
ORPHA:36913 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Elevated circulating acylcarn... |
ORPHA:159 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Hyp... |
OMIM:220110 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... |
ORPHA:32960 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia |
OMIM:201810 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... |
ORPHA:730 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:608779 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Thrombocytopenia, Congestive hea... |
ORPHA:508542 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Patent fora... |
OMIM:614582 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Abnormal pulmonary valve morphology, Portal hypertension, ... |
ORPHA:974 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:157 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Xanthe... |
OMIM:232240 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegal... |
OMIM:614866 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Elevated circulating C-reactive protein concentration, Anterior cham... |
ORPHA:91500 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Aminoaciduria, Decreased ... |
ORPHA:436271 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Myocarditis, Congestive heart failure, Lymphadenopathy, Card... |
ORPHA:3386 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... |
ORPHA:3260 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly |
OMIM:248370 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Leukocytosis, Bronchi... |
OMIM:620233 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Athetosis... |
ORPHA:369929 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Acute Radiation Syndrome |
|
Cataract, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphopenia, T... |
ORPHA:454831 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase, Impaired myocardial... |
ORPHA:681 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Astigmatism, Atrial septal defect... |
ORPHA:369837 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Ataxia, Dysmetria, Abnormal heart morpholo... |
ORPHA:93400 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Dysmetria, Abnormal heart morphology, Hepatosple... |
ORPHA:93399 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Hypokalemia, Aminoaciduria, Hypophosphatemia |
ORPHA:213 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Ca... |
OMIM:606721 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... |
ORPHA:35078 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Supraventricular tachycardia, Male hypogonadism, Posterior subcapsular cat... |
ORPHA:273 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... |
OMIM:617397 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Tremor, Splenomegaly, Lymphadenopathy, ... |
ORPHA:667 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Tachypnea, Prominent ... |
ORPHA:466677 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Ataxia, Epistaxis, Abnormality of n... |
ORPHA:33226 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... |
OMIM:618394 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal defect, Cardiomegaly, Retroperit... |
OMIM:602782 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Impaired temperature sensation, Pericardial effusion, Cryptorchidism, Mitra... |
ORPHA:536532 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic... |
ORPHA:30391 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Elevate... |
OMIM:263700 |
| Webb-Dattani Syndrome |
|
Cryptorchidism, Hypernatremia |
OMIM:615926 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Bone-marrow foam cells, Fetal asci... |
OMIM:607625 |
| Refsum Disease |
|
Cataract, Ataxia, Heart block, Splenomegaly, Respiratory insufficiency, Cardiomyopathy |
ORPHA:773 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:231625 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... |
ORPHA:308552 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, Restrictive ventilat... |
OMIM:607944 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, H... |
OMIM:612387 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Dystonia, Apnea, Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchie... |
OMIM:243700 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia |
ORPHA:289522 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure |
OMIM:618252 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Spherocytosis, Mit... |
ORPHA:251066 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... |
ORPHA:90033 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... |
ORPHA:251274 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... |
OMIM:257220 |
| Pmm2-Cdg |
|
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Cataract, Hypogonadotropic hyp... |
ORPHA:79318 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Paresthesia, Hyp... |
OMIM:601198 |
| Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... |
ORPHA:509 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuolated... |
OMIM:230500 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficie... |
OMIM:251260 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Tremor, Dyspnea, Hypertension, Respiratory failure, Interstiti... |
ORPHA:330021 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... |
ORPHA:797 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Pulmonic ... |
OMIM:618223 |
| Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Splenomegaly, Lymphopenia, Hepatomegaly |
OMIM:605309 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell... |
OMIM:615758 |
| Papillorenal Syndrome |
|
Hypertension, Cataract, Elevated circulating creatinine concentration, Lens luxation |
OMIM:120330 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Transketolase Deficiency |
|
Hepatomegaly, Cataract, Ventricular septal defect, Secondary amenorrhea, Abnormal heart morpholog... |
ORPHA:488618 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Primary amenorr... |
OMIM:201750 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Hypocalcemic seizures |
OMIM:612301 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Hyperammonemia, Opisthotonus |
OMIM:610678 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... |
OMIM:269200 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, ... |
ORPHA:77261 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Scrub Typhus |
|
Tremor, Dyspnea, Splenomegaly, Myocarditis, Lymphadenopathy, Restrictive ventilatory defect, Hypo... |
ORPHA:83317 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
| Alström Syndrome |
|
Respiratory distress, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepato... |
ORPHA:64 |
| Gitelman Syndrome |
|
Respiratory distress, Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Rayn... |
ORPHA:358 |
| Dubowitz Syndrome |
|
Cryptorchidism, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Acute leuke... |
ORPHA:99812 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ... |
ORPHA:31825 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Situs inversus totalis, Bronchiectasis, Immotile cilia, Ab... |
OMIM:244400 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Ataxia, Elevated circulating creatine kina... |
OMIM:615356 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
| East Syndrome |
|
Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia, Actio... |
ORPHA:199343 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N... |
OMIM:275350 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Atrial septal defect, Apnea, Cardiomegaly, H... |
ORPHA:79330 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Hyperlipidemia, Mitral regurgita... |
ORPHA:254346 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Apnea, Ataxia, Portal hypertension, Tremor, Splenome... |
ORPHA:1454 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Intrahepatic ... |
ORPHA:97283 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Cataract, Corneal erosion, Decreased proportion of class-switched memor... |
OMIM:614878 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis, Increased circulating very lon... |
ORPHA:369942 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Cough, Leukemia |
ORPHA:99867 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... |
ORPHA:320 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:154230 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric o... |
OMIM:614874 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Premature ovarian insufficiency, Telangiectasia of the skin, Aortic valve c... |
ORPHA:79474 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Recurrent aspiration pneumon... |
OMIM:230900 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... |
OMIM:309000 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Respiratory insufficiency, Lympha... |
ORPHA:2136 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:404 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary... |
ORPHA:403 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Intermittent hype... |
ORPHA:348 |
| Lathosterolosis |
|
Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo... |
ORPHA:46059 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric o... |
OMIM:300991 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Transient ischemic attack, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the... |
OMIM:208540 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Acanthocytosi... |
ORPHA:97280 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Thrombocytope... |
OMIM:617941 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... |
ORPHA:860 |
| Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Rhinitis |
ORPHA:93474 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve... |
ORPHA:90793 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... |
ORPHA:379 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Chron... |
ORPHA:97287 |
| Cerebrotendinous Xanthomatosis |
|
Cataract, Ataxia, Angina pectoris, Myocardial infarction, Respiratory insufficiency, Xanthelasma,... |
OMIM:213700 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired temperature... |
OMIM:268800 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Decreased nas... |
OMIM:612444 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigme... |
ORPHA:2720 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:60025 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... |
OMIM:219700 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Abnormality of the pancreas, Respiratory insufficiency, Cardiomyopathy... |
ORPHA:175 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Decr... |
ORPHA:231632 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Lymphocytic interstitia... |
ORPHA:289390 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Palp... |
ORPHA:231580 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Cataract, Pneumonia, Secundum atrial septal defect, Cryptorchidism, Hypopla... |
OMIM:264090 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Generalized aminoaciduria, Developmental cataract, ... |
OMIM:231680 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal opacity, Abno... |
ORPHA:2072 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormality of reprod... |
ORPHA:1501 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Dysdiad... |
OMIM:612780 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Portal vein thrombosis, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Tachycardia |
OMIM:613239 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cataract, Elevated circulating creatine kinase concentration, Dilatation of the ventricular cavit... |
ORPHA:363623 |
| Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Keratoconjunctiviti... |
ORPHA:95159 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Microsporidiosis |
|
Brain abscess, Sinusitis, Pneumonia, Cholangitis, Keratitis, Abnormality of the spleen, Peritonit... |
ORPHA:2552 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Cataract, Telangiectasia of the skin, Abnormality of neut... |
ORPHA:1775 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuric... |
OMIM:232200 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Hyperlipidemia, Heart murm... |
ORPHA:391665 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Menometrorrhagia, Cataract, Epistaxis, Abnormality of thrombocytes, ... |
ORPHA:79430 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased fertili... |
ORPHA:91347 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ... |
OMIM:619005 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Vasculitis, Hepatomegaly |
OMIM:601979 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Elevated circulating creatinine concentration |
ORPHA:2260 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Cataract, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic hepat... |
ORPHA:469 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Biliary tract abnor... |
OMIM:137920 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc... |
OMIM:301040 |
| Digeorge Syndrome |
|
Posterior embryotoxon, Ventricular septal defect, Sclerocornea, Thrombocytopenia, Asthma, Chronic... |
OMIM:188400 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular nec... |
OMIM:256810 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Irregular menstruation, Testicular adrenal rest tumor, Intr... |
ORPHA:90795 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Hepatomegaly, Resting tremor, Elevated circulating creatine kinase ... |
ORPHA:2388 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Generalized lipodystrophy |
ORPHA:90154 |
| Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Hemolytic anemia, Hypokalemia, Aminoaciduria |
ORPHA:18 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:306400 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
| Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Con... |
OMIM:619488 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circulating renin ... |
OMIM:263800 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Thrombocytopenia, Cryptorchidism, Restric... |
OMIM:305000 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hypoalbuminemia, Respiratory acidosis |
OMIM:614748 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Aminoaciduria, Anemia |
ORPHA:30 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Abnormality of the tonsils, Cryptor... |
ORPHA:567 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Cataract, Corneal opacity, Ataxia, Tremor, C... |
ORPHA:3455 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Ataxia, Cardiac conduction abnormality, Dyspnea, Chorea, Low plasma citrulli... |
ORPHA:255210 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Aminoaciduria, Hypophosphatemia |
OMIM:616026 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Leukopenia, Hypogonadism, Hypertrophic cardiomyopathy, Anemia |
ORPHA:1328 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Apnea, Dystonia, Tremor, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutrope... |
OMIM:617248 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Tachypnea, Hepatitis, ... |
ORPHA:415 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial septal defect, Cholangitis, Splenomegaly, Rec... |
OMIM:613610 |
| Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Ataxia, Myocardial inf... |
ORPHA:117 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami... |
OMIM:207900 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Tremor, Sp... |
ORPHA:646 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal ... |
ORPHA:3385 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros... |
OMIM:207800 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
| Hartsfield Syndrome |
|
Cryptorchidism, Hypernatremia |
OMIM:615465 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Exaggerated startle response, Dystonia, Apnea, Bicuspid aortic valve, Decreased ... |
ORPHA:438213 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Hypokalemia, Oligomenorrhea |
OMIM:219090 |
| Blau Syndrome |
|
Pericarditis, Cataract, Keratitis, Splenomegaly, Dyspnea, Large vessel vasculitis, Lymphadenopath... |
ORPHA:90340 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Hypokalemia, Atrial septal defect, I... |
ORPHA:769 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:607364 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... |
OMIM:263200 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Prolonged QT interval, Premature ovarian insufficiency, Bicuspid a... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Premature ovarian insufficiency, Bicuspid a... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Premature ovarian insufficiency, Bicuspid a... |
ORPHA:99226 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Prolonged QT interval, Premature ovarian insufficiency, Bicuspid a... |
ORPHA:881 |
| Arima Syndrome |
|
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic stea... |
OMIM:243910 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal s... |
OMIM:619607 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Abnormal cornea morphology, Hypokalemia, Amin... |
ORPHA:411629 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom... |
OMIM:170390 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... |
ORPHA:116 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Splenomeg... |
OMIM:181000 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Arrhythmia, Heterochromia iridis |
ORPHA:163746 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Intrahepatic ... |
ORPHA:97278 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... |
ORPHA:83617 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligozoospermia, Hypertension, Hypokalemia, Increased circulating cortisol level, Infertility, Ol... |
ORPHA:786 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... |
OMIM:601678 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory i... |
OMIM:614935 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Hypokalemia, Hyperaldosteronism, Increased circulating renin leve... |
ORPHA:508 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased testicular size, Decreased ... |
OMIM:202010 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Neoplasm of t... |
ORPHA:97261 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| 47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Gastrointestinal hemorrhage... |
OMIM:229600 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
| Nelson Syndrome |
|
Testicular neoplasm, Intracranial hemorrhage, Hypertension, Hypokalemia, Increased circulating co... |
ORPHA:199244 |
| Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Bicarbonaturia, Hypovolemia, Hypokalemia, Aminoaciduria, Subvalvular ... |
ORPHA:47159 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Mitral regurgitation, Neu... |
OMIM:208400 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hyperlipidemia, Abnormal spermatogenesis, Hypogona... |
ORPHA:3464 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... |
OMIM:163950 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased... |
ORPHA:3337 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic atta... |
ORPHA:286 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
