| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... |
OMIM:612526 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... |
ORPHA:280356 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:614131 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Imerslund-Grasbeck Syndrome 2 |
|
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... |
OMIM:618882 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Bullous Impetigo |
|
Sepsis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
| Immunodeficiency 66 |
|
Meningitis, Sepsis |
OMIM:618847 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Decreased lymphocyte apoptosis, Reduced delayed hypersensitivity, Chronic noninfectious lymphaden... |
OMIM:603909 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria, Lympho... |
ORPHA:79087 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:263400 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili... |
OMIM:226990 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:151660 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... |
OMIM:616860 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... |
OMIM:613101 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... |
OMIM:619644 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrophic cardiomyopathy... |
ORPHA:528 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... |
OMIM:608600 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Immunodeficiency 46 |
|
Meningitis, Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis |
OMIM:616740 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... |
OMIM:614480 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Reduced erythrocyt... |
OMIM:230400 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... |
OMIM:617872 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Diarrhea 13 |
|
Hypoalbuminemia, Recurrent hypoglycemia |
OMIM:620357 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... |
OMIM:615234 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Glo... |
ORPHA:2348 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... |
OMIM:606069 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra... |
OMIM:619048 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... |
OMIM:620044 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of fac... |
ORPHA:79083 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria |
ORPHA:419 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Neonatal Alloimmune Neutropenia |
|
Meningitis, Severe infection, Sepsis |
ORPHA:464370 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Mody |
|
Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva... |
ORPHA:552 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration |
OMIM:620478 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anem... |
OMIM:620565 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... |
ORPHA:98813 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... |
ORPHA:656 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero... |
OMIM:278000 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... |
ORPHA:766 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... |
OMIM:612541 |
| Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... |
OMIM:619902 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Increased le... |
ORPHA:26792 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... |
OMIM:619386 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... |
OMIM:613752 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... |
OMIM:611590 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... |
ORPHA:263455 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... |
OMIM:616730 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... |
ORPHA:99886 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Babesiosis |
|
Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia |
ORPHA:108 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Cirrhosis, Polycythemia |
OMIM:613280 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl... |
OMIM:617575 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria, Paroxysmal bursts of laughter, ... |
OMIM:618347 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Abnorm... |
ORPHA:99885 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... |
OMIM:620454 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism... |
ORPHA:2905 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ... |
ORPHA:229717 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... |
OMIM:600649 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... |
OMIM:620121 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi... |
OMIM:608594 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... |
OMIM:619151 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy... |
ORPHA:848 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Nephroblastoma, Hepatomegaly, Fe... |
ORPHA:2849 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Al Amyloidosis |
|
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Abnormal heart morph... |
ORPHA:85443 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Patent ductus arteriosus |
ORPHA:2123 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... |
OMIM:616050 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent uri... |
ORPHA:83471 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... |
OMIM:269700 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... |
OMIM:308230 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatomegaly, Po... |
ORPHA:264580 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, EBV meningitis, EBV encephalitis, Severe varicella zoster infection,... |
OMIM:615122 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... |
OMIM:256300 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg... |
OMIM:277410 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... |
OMIM:245900 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena... |
OMIM:261680 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing ... |
OMIM:304790 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglycer... |
ORPHA:412 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Rena... |
OMIM:602579 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... |
ORPHA:71212 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:300298 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... |
ORPHA:276 |
| Livedoid Vasculopathy |
|
Graves disease, Polycythemia, Pancytopenia, Leukocytosis, Anemia, Diabetes mellitus |
ORPHA:542643 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Pneumocystis carinii pneumo... |
OMIM:620321 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... |
OMIM:615382 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... |
ORPHA:79319 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
| Alg1-Cdg |
|
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnormality of t... |
ORPHA:79327 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Elevated circulating luteinizing... |
OMIM:617253 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... |
OMIM:618400 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia |
OMIM:618805 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Hypothyroidism, Thrombocy... |
OMIM:620184 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Ventricular hypertrophy, Hepat... |
ORPHA:228305 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Neonatal Hemochromatosis |
|
Abnormal localization of kidney, Increased circulating iron concentration, Hypoglycemia, Increase... |
ORPHA:446 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Cholestasis, Hyperg... |
OMIM:246200 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... |
OMIM:603358 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Patent ... |
ORPHA:290 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Sepsis |
ORPHA:33355 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
OMIM:616222 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Partial atr... |
OMIM:615996 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg... |
OMIM:620010 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... |
OMIM:201475 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Irrit... |
OMIM:613070 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... |
ORPHA:2088 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Enuresis, Decreased HDL cholesterol concentration, Abnormal eating behavi... |
ORPHA:247585 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... |
OMIM:232200 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia |
ORPHA:2668 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... |
ORPHA:911 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... |
OMIM:605911 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... |
OMIM:300635 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hyperbilir... |
ORPHA:1667 |
| Tufted Angioma |
|
Anemia, Hyperhidrosis, Thrombocytopenia |
ORPHA:1063 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... |
ORPHA:158061 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Hypomethioninemia, Macrocytic anemia, Glomerulop... |
ORPHA:2169 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent herpes, Recurrent infections, Re... |
ORPHA:331235 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... |
OMIM:201450 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... |
OMIM:232220 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... |
OMIM:612783 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Thrombocytopenia |
OMIM:614727 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity |
ORPHA:369873 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Type I diabetes mellitus, Tetralogy of Fallot, Microcytic anemia, Splenomeg... |
OMIM:619525 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... |
ORPHA:101330 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Type I diabetes mellitus, Pancytopenia, Decreased circulating Ig... |
OMIM:614700 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Truncal... |
ORPHA:633 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Abnormality of the thyroid gland, Granuloma, Diabetes mellitus |
ORPHA:542592 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... |
ORPHA:54251 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... |
OMIM:251880 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
| Scedosporiosis |
|
Unusual CNS infection, Unusual skin infection, Sepsis, Invasive fungal infection, Fungal meningit... |
ORPHA:449280 |
| Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy... |
OMIM:276700 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia |
OMIM:619013 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... |
OMIM:619487 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
| Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo... |
ORPHA:292 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612924 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612925 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... |
ORPHA:228308 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... |
OMIM:618394 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612926 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:79159 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... |
ORPHA:247598 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice |
ORPHA:91547 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Type I diabetes mellitus |
OMIM:619269 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... |
ORPHA:444490 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent infections, Sepsis |
ORPHA:204 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... |
ORPHA:90045 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly... |
ORPHA:309854 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... |
ORPHA:77296 |
| X-Linked Agammaglobulinemia |
|
Hepatitis, Abnormality of the lymphatic system, Agammaglobulinemia, Abnormality of the tonsils, T... |
ORPHA:47 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Abnormal tricuspid valve morphology, Lipodystrophy, Increased... |
ORPHA:199276 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... |
OMIM:231530 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur... |
OMIM:613845 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
| Immunodeficiency 68 |
|
Recurrent meningitis, Sepsis |
OMIM:612260 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Reduced subcutaneous adipose tissue, Ventricular septal defe... |
ORPHA:769 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Down Syndrome |
|
Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Abnormality of the lympha... |
ORPHA:870 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
| Wolman Disease |
|
Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m... |
ORPHA:75233 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... |
OMIM:614582 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... |
ORPHA:839 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... |
OMIM:603471 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Bicuspid aortic val... |
ORPHA:401923 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, ... |
ORPHA:540 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Prote... |
OMIM:616026 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Decreased circulating IgA level, Le... |
OMIM:620376 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Impaired lympho... |
OMIM:617006 |
| Autosomal Agammaglobulinemia |
|
Meningitis, Recurrent infections, Sepsis, Recurrent respiratory infections |
ORPHA:33110 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o... |
OMIM:615758 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Hypothyro... |
ORPHA:39041 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Prolidase Deficiency |
|
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Hepatomegaly, Th... |
OMIM:170100 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Horseshoe ... |
OMIM:612562 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... |
OMIM:610717 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| H Syndrome |
|
Histiocytosis, Hypogonadism, Microcytic anemia, Hepatosplenomegaly, Hernia, Lipodystrophy, Microp... |
ORPHA:168569 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... |
OMIM:606003 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... |
OMIM:617591 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Paraganglioma, Hepatic hemangioma, Pancreatic cysts, Neoplasm of ... |
OMIM:193300 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... |
OMIM:614921 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... |
ORPHA:158048 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly, Decreased ... |
ORPHA:397596 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec... |
OMIM:617093 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... |
OMIM:616433 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:203800 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia |
OMIM:604250 |
| Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... |
ORPHA:508 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Thrombocytopenia, Neutropenia, Patent ductus arteriosus, Normochromic anemia |
OMIM:614857 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, D... |
OMIM:212138 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... |
OMIM:208540 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Increased circulating IgE level, Lymphopenia, Decreased circulating I... |
OMIM:102700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly, Perimembranous vent... |
OMIM:608104 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Alaninuria, Hypoglycemia |
OMIM:615158 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... |
ORPHA:567546 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutropenia, H... |
ORPHA:79259 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:616100 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Leuk... |
OMIM:617303 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... |
OMIM:615415 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Penile freckling, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroid ad... |
ORPHA:210548 |
| Glycogen Storage Disease V |
|
Failure to elevate lactate upon ischemic exercise test, Dark urine, Hyperuricemia, Elevated circu... |
OMIM:232600 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost... |
ORPHA:79230 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... |
OMIM:105200 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... |
OMIM:243150 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... |
ORPHA:77259 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... |
OMIM:610377 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Wilson Disease |
|
Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto... |
ORPHA:905 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... |
ORPHA:417 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Hypoproteinemia |
OMIM:226300 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... |
ORPHA:1414 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Polycysti... |
OMIM:608776 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... |
OMIM:619858 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Pyomyositis |
|
Recurrent infections, Sepsis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Propionic Acidemia |
|
Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
| Stt3B-Cdg |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ... |
ORPHA:811 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
ORPHA:96184 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C... |
ORPHA:470 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Decre... |
ORPHA:436159 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Diabetes mellitus |
OMIM:614231 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... |
OMIM:604387 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Depression, Oral-pharyngeal... |
ORPHA:95455 |
| Fumarase Deficiency |
|
Ascites, Intrahepatic cholestasis, Polycythemia |
OMIM:606812 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... |
OMIM:609981 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... |
ORPHA:209919 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... |
OMIM:619418 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Abnormal mitral valve morphology, Proteinuria, Anemia, Nep... |
ORPHA:1192 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Whipple Disease |
|
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Anemia, Myocarditis, He... |
ORPHA:3452 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Abnormal... |
OMIM:616541 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Calciphylaxis |
|
Sepsis |
ORPHA:280062 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Adrenal insufficiency, Decreased testicular size, Cryptorchidism, Adrena... |
OMIM:617053 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A... |
ORPHA:1451 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hepatic steatosis, Fetal pyelectasis, Common atrium, Hypercalcemia, ... |
ORPHA:96168 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Hyperlipidemia, Irritability, Ketotic hypoglyc... |
ORPHA:2089 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating ferritin concentration, Hematuria, Hepatomegaly, Proteinuria, Co... |
OMIM:614034 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... |
OMIM:614576 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly, Anhidrosis |
OMIM:614979 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231214 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... |
OMIM:608233 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hemolytic anemia, Hyperbilirubinemia, S... |
OMIM:277900 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatremia, Elev... |
ORPHA:247353 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Abnormal heart morphology, Abnormality of the thyroid gland, I... |
OMIM:182290 |
| Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture |
OMIM:618856 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
| Aromatase Deficiency |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Hepati... |
ORPHA:91 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... |
OMIM:130650 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... |
ORPHA:319218 |
| Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Sepsis, Recurrent respiratory infections |
OMIM:256500 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver failure in inf... |
ORPHA:275761 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:251000 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sepsis |
ORPHA:313 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... |
OMIM:300755 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Nephrotic syndrome, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Sple... |
ORPHA:37042 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Postprandial hyperglycemia, Ketonuria, Beta 2-microglobu... |
OMIM:227810 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... |
ORPHA:348 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Thrombocytopenia |
ORPHA:99828 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... |
ORPHA:2959 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th... |
OMIM:210200 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... |
OMIM:606367 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hypoglycemia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hyperala... |
OMIM:618329 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Renal agenesis, Increased mean corpuscular volume, Persisten... |
ORPHA:124 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo... |
OMIM:613989 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529799 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Urin... |
ORPHA:505248 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... |
ORPHA:73272 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:445038 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive |
OMIM:601410 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... |
ORPHA:525731 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, 4-Hydroxyphenylpyruvic aci... |
OMIM:617156 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the ureter, Type II d... |
ORPHA:1133 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Pancreatic islet cell adenoma, Adrenal ph... |
ORPHA:892 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... |
ORPHA:93111 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Avian Influenza |
|
Hypoalbuminemia, Acute kidney injury, Lymphopenia, Leukopenia, Elevated circulating creatine kina... |
ORPHA:454836 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... |
OMIM:212065 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... |
OMIM:274150 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:618348 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hyper... |
ORPHA:90065 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... |
OMIM:619774 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... |
OMIM:606721 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age, Abnormal heart morphology |
ORPHA:439167 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Hypoglycemia, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Patent ductus arteriosus |
OMIM:251290 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Patent d... |
OMIM:277380 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria, Megaloblastic anemia |
OMIM:261100 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Acute hepa... |
OMIM:256810 |
| Classic Galactosemia |
|
Sepsis |
ORPHA:79239 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Tetr... |
OMIM:222470 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:259700 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
OMIM:604290 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... |
OMIM:242900 |
| Short Syndrome |
|
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... |
ORPHA:3163 |
| Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... |
ORPHA:2968 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... |
ORPHA:53693 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Peri... |
OMIM:618183 |
| Hereditary Orotic Aciduria |
|
Anemia, Patent ductus arteriosus, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... |
ORPHA:90674 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Acquired Purpura Fulminans |
|
Sepsis |
ORPHA:49566 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormal circulating cre... |
ORPHA:98908 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Tubulointerstitial nephritis, Elevated circulating... |
ORPHA:449395 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... |
OMIM:616329 |
| Complement Factor I Deficiency |
|
Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinus... |
OMIM:610984 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... |
ORPHA:368 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70578 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233710 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, He... |
OMIM:617388 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen... |
ORPHA:465508 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... |
ORPHA:88618 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... |
OMIM:616263 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, H... |
ORPHA:367 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno... |
ORPHA:100924 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti... |
OMIM:613990 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Interstitial cardiac fibrosis, ... |
ORPHA:90291 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi... |
OMIM:232800 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... |
ORPHA:829 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Thyroiditis |
ORPHA:139402 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis |
OMIM:120100 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... |
OMIM:615630 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... |
OMIM:611126 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... |
ORPHA:358 |
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Elevated circulating aspart... |
OMIM:610198 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233690 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopat... |
ORPHA:70472 |
| Preeclampsia |
|
Type I diabetes mellitus, Abnormality of the hepatic vasculature, Thrombocytopenia, Polycystic ov... |
ORPHA:275555 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Anemia |
ORPHA:67 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Irritability, Cardiom... |
OMIM:618278 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... |
OMIM:259720 |
| Muckle-Wells Syndrome |
|
Leukocytosis |
OMIM:191900 |
| Acute Lung Injury |
|
Sepsis |
ORPHA:178320 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Increased blood urea ni... |
ORPHA:251004 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:79322 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice |
ORPHA:90051 |
| Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy... |
ORPHA:160 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:620300 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis |
ORPHA:90154 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C... |
OMIM:603467 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia... |
ORPHA:116 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice, Diabetes mellitus |
ORPHA:676 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Renal insufficiency, Renal tubu... |
ORPHA:213 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... |
ORPHA:2137 |
| Necrotizing Enterocolitis |
|
Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Meningococcal Meningitis |
|
Sepsis, Infectious encephalitis |
ORPHA:33475 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... |
ORPHA:36234 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells |
OMIM:256550 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... |
OMIM:250790 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Ventricular septal defect, Hydronephrosis, Dysphagia, Hepatomegaly, Elevated circu... |
OMIM:214100 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin, Cryptorchidism |
ORPHA:98791 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... |
ORPHA:902 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circu... |
OMIM:618120 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopat... |
ORPHA:436271 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... |
ORPHA:447 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circul... |
OMIM:615486 |
| Lig4 Syndrome |
|
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Thrombocytopenia, Acute ... |
OMIM:606593 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita... |
ORPHA:480520 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ascites, Patent ductus arteriosus, Thrombocytopenia |
OMIM:617397 |
| Majeed Syndrome |
|
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... |
ORPHA:77297 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto... |
ORPHA:93552 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, ... |
ORPHA:94086 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomega... |
OMIM:614702 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Type II diabetes mellitus, Cryptorchidism, Hypothyroi... |
ORPHA:99812 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Arthrogryposis multiplex congenita, Obesity, Hyperlipidemia, Hepatic steatosi... |
ORPHA:254346 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Abnormal lymphoc... |
ORPHA:99867 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Cardiomyopathy, Decreased liver function, Renal insufficiency, Renal tubular ac... |
OMIM:614922 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... |
OMIM:613404 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... |
OMIM:260920 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Failure to thrive, Eleva... |
OMIM:229600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... |
OMIM:619355 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Thrombocyto... |
ORPHA:96181 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Elevated circulating he... |
ORPHA:66634 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Chronic Granulomatous Disease |
|
Meningitis, Recurrent respiratory infections, Sepsis |
ORPHA:379 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Homocystinuria, Failure to thrive, Inguinal hernia, Mitral valve prolapse, He... |
OMIM:236200 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Abnormality of the ureter, Obesity, Renal hypop... |
ORPHA:819 |
| Staphylococcal Necrotizing Pneumonia |
|
Severe infection, Sepsis |
ORPHA:36238 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... |
OMIM:601399 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Cardiomegal... |
ORPHA:79330 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia... |
OMIM:227645 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Papillary renal cell c... |
ORPHA:363618 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Recurr... |
ORPHA:443811 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Left vent... |
OMIM:209900 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Omphalocele, Pancreatic fibrosis, Hepatomegaly, Enlarged ... |
OMIM:200995 |
| Alagille Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... |
OMIM:118450 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular... |
ORPHA:79324 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... |
ORPHA:57 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Inguinal hernia, Enlarged kidney, Cystic... |
OMIM:608022 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... |
OMIM:105650 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi... |
ORPHA:90038 |
| High Altitude Pulmonary Edema |
|
Leukocytosis |
ORPHA:330012 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Gaucher Disease, Type Ii |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph... |
ORPHA:79128 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... |
OMIM:123550 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, ... |
OMIM:557000 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Ventricular septal defect, Hydronephros... |
OMIM:235510 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Snakebite Envenomation |
|
Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
OMIM:222700 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... |
OMIM:266150 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Adrenomyodystrophy |
|
Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ... |
ORPHA:977 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis |
OMIM:614886 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia |
ORPHA:375 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsi... |
OMIM:233600 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha... |
OMIM:306400 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc... |
ORPHA:79474 |
| Developmental And Epileptic Encephalopathy 111 |
|
Recurrent respiratory infections, Sepsis |
OMIM:620504 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... |
OMIM:615595 |
| Alg8-Cdg |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:79325 |
| Ogden Syndrome |
|
Polycythemia, Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Cardio... |
OMIM:300855 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis |
ORPHA:86884 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia... |
ORPHA:391487 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome |
OMIM:215250 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... |
ORPHA:1572 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Legionnaires Disease |
|
Infectious encephalitis, Sepsis, Recurrent pharyngitis |
ORPHA:549 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Hypothyroidism, Thrombocytopenia, Prolonged neonatal jaundice, Diabet... |
OMIM:225750 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia... |
ORPHA:746 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Hyperhidrosis |
ORPHA:51890 |
| Lassa Fever |
|
Sepsis |
ORPHA:99824 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Q Fever |
|
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... |
ORPHA:781 |
| Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... |
ORPHA:744 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... |
ORPHA:84064 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Elevated circulati... |
OMIM:607426 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Kawasaki Disease |
|
Hypoalbuminemia, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular sept... |
ORPHA:2331 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... |
ORPHA:99826 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Attent... |
ORPHA:261222 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Normochromic anemia |
OMIM:618775 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Dilated cardiomyopathy, Ketonuria, Elevated circulating hepatic transa... |
ORPHA:20 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... |
OMIM:617729 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
| Prader-Willi Syndrome |
|
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive... |
OMIM:176270 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Elevated ... |
OMIM:620609 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Ivic Syndrome |
|
Leukocytosis, Patent ductus arteriosus, Thrombocytopenia |
OMIM:147750 |
| Overlap Myositis |
|
Leukopenia, Diabetes mellitus, Thrombocytopenia |
ORPHA:206572 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Abnormality of the urinary system, ... |
ORPHA:813 |
| Secondary Short Bowel Syndrome |
|
Sepsis |
ORPHA:95427 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... |
OMIM:610199 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Hyperhidrosis, Thrombocytosis |
ORPHA:71493 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopat... |
OMIM:220110 |
| Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ... |
ORPHA:97214 |
| Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Delayed puberty, ... |
ORPHA:77261 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Lymphadenopathy, Thrombocytopenia, Anemia, Abdominal mass |
ORPHA:635 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... |
ORPHA:860 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... |
ORPHA:3260 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism |
ORPHA:2430 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... |
ORPHA:298 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia |
OMIM:224230 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Ventricular septal hypertrophy, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Abscess, Peritonitis, Splenic absce... |
ORPHA:810 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Thrombocytopenia, Patent ductus arteriosus, Hypergonadotropic hypo... |
OMIM:300514 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Proteinuria, Renal insufficiency |
OMIM:610965 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Decreased circulating antibody level, Hydrocele testis |
OMIM:605309 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... |
OMIM:613812 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden... |
OMIM:615895 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Elevated circulating hepatic transaminase concentrat... |
ORPHA:17 |
| Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:608013 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... |
OMIM:602347 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... |
ORPHA:51636 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Nephrogenic diabet... |
OMIM:208085 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Hepatic steatosis, Cardiomyopathy, Elevated circulating cr... |
ORPHA:52430 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomeg... |
OMIM:615688 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Type II diabetes mellitus, Hepatic steatosis, Nephrotic syndrome, Abnorma... |
ORPHA:110 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Orchi... |
ORPHA:1304 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, T... |
OMIM:608978 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles... |
OMIM:261515 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227990 |
| Alg9-Cdg |
|
Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morp... |
ORPHA:79328 |
| Adams-Oliver Syndrome |
|
Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia |
ORPHA:974 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... |
ORPHA:85450 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Increased circulating IgE level, Decreased circulating osteocalc... |
ORPHA:330015 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... |
OMIM:609812 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:124000 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... |
OMIM:610205 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Renal dysplasia,... |
ORPHA:96182 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Hypertrophic cardiomyopathy, Elevated circulating crea... |
ORPHA:439232 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Proteinuria,... |
OMIM:619471 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227982 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Melioidosis |
|
Sepsis, Brain abscess, Unusual skin infection |
ORPHA:31202 |
| Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... |
OMIM:137920 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Leukopenia, Cryptorchidism, Thrombocytopenia |
OMIM:301056 |
| Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp... |
ORPHA:499009 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Hyperbilir... |
OMIM:619534 |
| Bloom Syndrome |
|
Insulin resistance, Recurrent tonsillitis, Recurrent urinary tract infections, Decreased proporti... |
ORPHA:125 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me... |
OMIM:251300 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... |
OMIM:618280 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Hypoketotic hy... |
ORPHA:157 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Farber Disease |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... |
ORPHA:333 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Leukocytosis |
ORPHA:188 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... |
OMIM:261740 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gene... |
OMIM:619127 |
| Immunodeficiency 87 And Autoimmunity |
|
Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... |
OMIM:619573 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge... |
OMIM:263700 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyop... |
OMIM:252500 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... |
OMIM:619377 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced circulating growth hormone conce... |
OMIM:620654 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... |
ORPHA:3243 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Cirrhosis, Hyperhidrosis, Thrombocytopen... |
ORPHA:1775 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:613658 |
| Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97283 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly |
OMIM:249100 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hypothyro... |
ORPHA:349 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
| Stevens-Johnson Syndrome |
|
Anemia, Abnormality of neutrophils, Pancreatitis, Thrombocytopenia |
ORPHA:36426 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... |
ORPHA:2260 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Thrombocytopeni... |
OMIM:620185 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Hyperparathyroidism, Umbilical hernia, Splenic cyst, Inguinal hernia, ... |
OMIM:618188 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Kid Syndrome |
|
Sepsis, Recurrent candida infections, Recurrent cutaneous fungal infections, Recurrent cutaneous ... |
ORPHA:477 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Sepsis |
ORPHA:247691 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Abnormal heart morphology, Atrial septal defect, Anemia, Refractory anemia |
ORPHA:79076 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Pancreatitis, Neutropenia |
ORPHA:537 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cryptorchidism, Left ventricular hypertrophy, Thrombocytopenia, Anemia |
OMIM:611209 |
| Rift Valley Fever |
|
Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula... |
ORPHA:319251 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:600376 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag... |
OMIM:219800 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Increased circulating antibody level, H... |
OMIM:615846 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Fulminant hepatitis |
ORPHA:319213 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec... |
OMIM:612301 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple... |
ORPHA:565612 |
| Immunodeficiency 31C |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... |
OMIM:251900 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
ORPHA:30391 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, He... |
ORPHA:46059 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... |
OMIM:615512 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Type I diabetes mellitus, Depression, Hepatosplenomegaly, Renal insufficiency, S... |
ORPHA:171 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Hyperbilirubinemia,... |
OMIM:615710 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... |
OMIM:615947 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| 8P11.2 Deletion Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Cryptorchidism, Splenomegaly, Hypog... |
ORPHA:251066 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
| Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... |
OMIM:602782 |
| Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Xerostomia, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly,... |
ORPHA:809 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... |
ORPHA:94093 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspi... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspi... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspi... |
ORPHA:881 |
| Noonan Syndrome 4 |
|
Cryptorchidism, Thrombocytopenia |
OMIM:610733 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Hypoglycemia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Anemia, Hypoglycemia, Elevated circulating creatine kinase concentra... |
OMIM:618835 |
| Alström Syndrome |
|
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomeg... |
ORPHA:64 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Multiple lipomas, Lipoatrophy, Enlarged kidney |
ORPHA:276280 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... |
ORPHA:90363 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Elevated circulating parathyroid hormone level, Leukocytosis, Splenomegaly, H... |
ORPHA:289157 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Urachal Cyst |
|
Abdominal mass, Peritonitis, Leukocytosis, Abscess |
ORPHA:488 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Hypoketotic hypoglycemi... |
OMIM:609015 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... |
ORPHA:90035 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Atypical scarring of... |
ORPHA:534 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Splenomegaly, Hepatomegaly, Anemia, Primary hyper... |
OMIM:239200 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... |
ORPHA:91500 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Xerostomia, Chronic active hepatitis, Parotiti... |
ORPHA:289390 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Hepatomegaly, Hypo... |
OMIM:270400 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria, Highly elevated creatine kinase |
ORPHA:352479 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Late-Onset Isolated Acth Deficiency |
|
Sepsis |
ORPHA:199299 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Increased circulating IgG level, Increased circulatin... |
ORPHA:297 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Hypoplastic nipples, Thrombocytopenia |
ORPHA:261323 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Hypoglycem... |
OMIM:615453 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Cryptorchidism, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph... |
OMIM:194080 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglyce... |
OMIM:609069 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... |
OMIM:619381 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria |
ORPHA:834 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Thrombocytosis |
ORPHA:134 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent infections, Sepsis |
ORPHA:79396 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... |
ORPHA:436252 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:187300 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:612199 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Thrombocyt... |
ORPHA:2785 |
| Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:166300 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Adrenal ... |
ORPHA:99827 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... |
ORPHA:284426 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis, Diabetes mellitus |
OMIM:209010 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:620233 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transami... |
ORPHA:273 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her... |
OMIM:600001 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevat... |
ORPHA:404454 |
| Radiation Proctitis |
|
Sepsis |
ORPHA:70475 |
| Wagro Syndrome |
|
Emotional lability, Nephroblastoma, Low frustration tolerance, Proteinuria, Polyphagia, Aggressiv... |
OMIM:612469 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased urinary glycerol, Irritability |
OMIM:229700 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Refractor... |
ORPHA:48818 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:79078 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:619004 |
| Listeriosis |
|
Unusual CNS infection, Sepsis, Unusual skin infection, Brain abscess, Infectious encephalitis, Me... |
ORPHA:533 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ... |
ORPHA:355 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection |
OMIM:300291 |
| Fabry Disease |
|
Lipiduria, Renal insufficiency, Proteinuria, Ventricular septal hypertrophy, Left ventricular hyp... |
OMIM:301500 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Micronodular cirrhosis, Ascites, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:301072 |
| Currarino Syndrome |
|
Sepsis, Recurrent urinary tract infections |
OMIM:176450 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Irritability, Mild proteinuria, Increased serum bile acid concentration |
OMIM:619685 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decre... |
OMIM:274000 |
| Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hyperhidrosis, Hypochromic microcytic anemia |
ORPHA:96123 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypo... |
OMIM:619428 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Cryptorchidism |
ORPHA:847 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Leukocytosis, Hepatomegaly, Abnormal isohemagglutinin level, Neutrophilia, Anemia |
ORPHA:99843 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Cyclic neutropenia, Decreased glomerular filtra... |
OMIM:232240 |
| Bloom Syndrome |
|
Type II diabetes mellitus, Hepatic steatosis, Leukemia, Elevated hemoglobin A1c, Small for gestat... |
OMIM:210900 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis |
OMIM:214110 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... |
ORPHA:500095 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... |
OMIM:255125 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Sever... |
OMIM:615816 |
| Rat-Bite Fever |
|
Meningitis, Sepsis |
ORPHA:31205 |
| Digeorge Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Renal dysplasia, Cholelithiasis, Parathyroid hypopl... |
OMIM:188400 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive p... |
OMIM:256040 |
| Nocardiosis |
|
Unusual CNS infection, Sepsis, Brain abscess, Infectious encephalitis, Severe infection, Meningitis |
ORPHA:31204 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute l... |
ORPHA:235 |
| Cryptococcosis |
|
Meningitis, Sepsis |
ORPHA:1546 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Anemia, Patent ductus arteriosus |
ORPHA:163979 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,... |
OMIM:305000 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Oral-pharyngeal dysphagia, Hypoglyce... |
OMIM:616878 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru... |
OMIM:619147 |
| Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Jaundice, Increased circula... |
ORPHA:99829 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia, Diabetes mellitus |
ORPHA:544482 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Hardikar Syndrome |
|
Hepatic fibrosis, Portal inflammation, Intrahepatic bile duct cysts, Cholestasis, Hepatosplenomeg... |
OMIM:301068 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Decr... |
ORPHA:77293 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Recurrent otitis... |
ORPHA:244 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glome... |
ORPHA:36412 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Hyperinsulinemia, Impaired neutrophil chemotaxis, ... |
ORPHA:79318 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Hypertrophic cardiomyopathy, Renal insufficiency, Proteinuria... |
ORPHA:330001 |
| Cryoglobulinemic Vasculitis |
|
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Hepatomegaly |
ORPHA:91138 |
| Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
| Microsporidiosis |
|
Infectious encephalitis, Sepsis, Brain abscess, Bronchiolitis |
ORPHA:2552 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Abnormal lymph node morphology, Parotitis, Leukopenia, Portal hypertens... |
ORPHA:797 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Mi... |
OMIM:619321 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids,... |
OMIM:309000 |
| Papa Syndrome |
|
Proteinuria, Type I diabetes mellitus |
ORPHA:69126 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Nephrolithiasis, Hypokal... |
OMIM:219090 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Cryptorchidism, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the lymphatic system, Thrombocytopenia, Abnormality of the endocrine system, Paten... |
ORPHA:487796 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral at... |
OMIM:220111 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Endocrine-Cerebroosteodysplasia |
|
Microphallus, Hyperechogenic kidneys, Adrenal hypoplasia, Hypospadias, Enlarged kidney |
OMIM:612651 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect |
OMIM:616901 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Large for gestational age, Vesicoureteral reflux, Hip contracture, Kne... |
OMIM:300868 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate... |
OMIM:615356 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Myoglobinuria,... |
ORPHA:423 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Abnormality of the liver, Thrombocytopenia |
ORPHA:464321 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia |
ORPHA:647 |
| Fabry Disease |
|
Nephropathy, Depression, Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, H... |
ORPHA:324 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Renal insufficiency, Tubulointersti... |
ORPHA:183 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Elliptocytosi... |
ORPHA:86818 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... |
ORPHA:93126 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Leukocytosis, Hyperhidrosis, Thrombocytopenia |
ORPHA:340 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia |
OMIM:620423 |
| Menkes Disease |
|
Sepsis |
ORPHA:565 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to th... |
OMIM:203700 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis |
ORPHA:90790 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Ventricular septal defect |
ORPHA:2143 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Aggressive behavior, T... |
ORPHA:488627 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Recu... |
ORPHA:221139 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pyoderma, Sepsis, Recurrent urinary tract infections |
ORPHA:79404 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hepatoblastoma, Atrial septal defect,... |
OMIM:312870 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis |
ORPHA:158668 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, D... |
ORPHA:740 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Familial Mediterranean Fever |
|
Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy |
ORPHA:342 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo... |
OMIM:615873 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Dilated cardiomyopathy... |
ORPHA:550 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Recurrent lower respiratory tract infections, Recurrent infections, Sepsis |
ORPHA:363611 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormal he... |
ORPHA:1606 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:613471 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
| Fanconi Anemia |
|
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Leukopenia, Abnormality of the live... |
ORPHA:84 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Ventricula... |
OMIM:619503 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Thrombocytopenia |
OMIM:147791 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Ventricular s... |
ORPHA:96191 |
| Garg-Mishra Progeroid Syndrome |
|
Microvesicular hepatic steatosis |
OMIM:620601 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Burkholderia cepacia infections, Recurrent Aspergillu... |
ORPHA:586 |
| Simple Cryoglobulinemia |
|
Nephritis, Abnormal heart morphology, Renal insufficiency, Mesangial hypercellularity, Proteinuri... |
ORPHA:91139 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of thrombocytes, Impaired T cell function, Splenomegaly, Cryptorchidi... |
ORPHA:567 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Cardiomegal... |
ORPHA:51 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Ascites, Hypoplasia of the thymus, Adrenal hypoplasia, Right ventricular hypert... |
OMIM:613177 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
| Japanese Encephalitis |
|
Inappropriate antidiuretic hormone secretion, Increased circulating IgM level, Increased circulat... |
ORPHA:79139 |
| Cornelia De Lange Syndrome 1 |
|
Duplication of internal organs, Hypoplastic nipples, Cryptorchidism, Thrombocytopenia |
OMIM:122470 |
| Alkaptonuria |
|
Black pigment gallstones, Methemoglobinemia, Prostatitis, Hypothyroidism, Hemolytic anemia |
ORPHA:56 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
| Agel Amyloidosis |
|
Depression, Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morphology |
ORPHA:85448 |
| Jacobsen Syndrome |
|
Bone marrow hypocellularity, Annular pancreas, Cryptorchidism, Thrombocytopenia |
ORPHA:2308 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... |
ORPHA:391665 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ... |
OMIM:619475 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria |
ORPHA:71273 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria |
OMIM:301108 |
| Leptospirosis |
|
Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice |
ORPHA:509 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fungal infections, Recur... |
OMIM:242840 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Anemia, Increased blood urea nitrogen, Hepatomegaly |
ORPHA:90321 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Acute Liver Failure |
|
Hepatitis, Hepatocellular necrosis, Hepatic periportal necrosis, Adrenal insufficiency, Hepatic n... |
ORPHA:90062 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Roberts Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, ... |
ORPHA:861 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Pancytopenia, Autoimmune hemolytic anemia, Hematuria, Proteinuria, Autoim... |
ORPHA:1855 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula, Atrial septal defect |
ORPHA:2728 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
| Eec Syndrome |
|
Xerostomia, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Hypo... |
ORPHA:1896 |
| Plague |
|
Meningitis, Sepsis |
ORPHA:707 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia, Anhidrosis |
ORPHA:466650 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Hypoglycemia, Tetralogy of Fallot, Abnormality of the spleen, ... |
ORPHA:2162 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Dysp... |
ORPHA:1018 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy, Ventricular septal defect |
OMIM:222448 |
| Cocaine Intoxication |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... |
ORPHA:90068 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Martin-Probst Syndrome |
|
Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis |
OMIM:300519 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thrombocytopenia,... |
OMIM:163950 |
| Williams Syndrome |
|
Type II diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Overfriendliness, Bi... |
ORPHA:904 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, G... |
ORPHA:900 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... |
OMIM:208500 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome |
OMIM:161200 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Abnormality ... |
ORPHA:2035 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
| Truncus Arteriosus |
|
Cardiomegaly, Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortical abnormality, Rig... |
ORPHA:3384 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Sepsis |
ORPHA:99646 |
| Immunoglobulin A Vasculitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Anorexia |
ORPHA:761 |
| Cockayne Syndrome |
|
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Splenomeg... |
ORPHA:191 |
| Osteogenesis Imperfecta |
|
Hyperhidrosis, Thrombocytopenia |
ORPHA:666 |
| Relapsing Polychondritis |
|
Renal insufficiency, Abnormal aortic valve morphology, Hematuria, Proteinuria, Glomerulopathy, Ab... |
ORPHA:728 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Aymé-Gripp Syndrome |
|
Pericardial effusion, Proteinuria, Pericarditis |
ORPHA:1272 |
| Cockayne Syndrome B |
|
Renal insufficiency, Splenomegaly, Proteinuria, Micropenis, Hepatomegaly |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Splenomegaly, Proteinuria, Micropenis, Hepatomegaly |
OMIM:216400 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
| Orofaciodigital Syndrome I |
|
Abnormal heart morphology, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level |
OMIM:264090 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Motor stereotypy, Ventricular septal defect |
OMIM:616682 |
| Orofaciodigital Syndrome Type 1 |
|
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency |
ORPHA:2750 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
