Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Elevated hepatic transaminase, Hypertri... |
ORPHA:158048 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid... |
OMIM:619902 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Multiple Myeloma |
|
Acute kidney injury, Anemia, Hyperproteinemia, Nephropathy, Nephrotic syndrome, Abnormality of th... |
ORPHA:29073 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Hepatomegaly, Elevated hepatic transaminase |
OMIM:606664 |
Reticular Dysgenesis |
|
Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell function, Congenital agranulocy... |
OMIM:267500 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis... |
OMIM:620010 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino... |
OMIM:603554 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Acholic stools, Elevated... |
OMIM:619868 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... |
OMIM:267700 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... |
OMIM:237800 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:118830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic stea... |
OMIM:614480 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transam... |
OMIM:613313 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Galactosemia Iii |
|
Jaundice, Galactosuria, Hypergalactosemia, Hepatomegaly, Aminoaciduria, Splenomegaly |
OMIM:230350 |
Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, El... |
ORPHA:398063 |
Myosclerosis, Autosomal Recessive |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration... |
OMIM:255600 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... |
OMIM:603553 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Nephrocalcinosis, Hemolytic anemia, Decreased mean corpuscul... |
OMIM:611590 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice |
OMIM:206400 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Scoliosis, Leukocytosis, Anemia, Cholestasis, Hepatic fibrosis, Lymphadenitis, H... |
OMIM:615895 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Short neck, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigid... |
OMIM:300718 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Cryptorchidism, Hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Immunodeficiency 104 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:619658 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Increased serum bile aci... |
OMIM:616278 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaci... |
ORPHA:882 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... |
OMIM:618963 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... |
OMIM:603552 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... |
ORPHA:40 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... |
OMIM:616828 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... |
OMIM:616860 |
Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlo... |
OMIM:617404 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Reticulocytosis, Splenomegaly |
OMIM:179700 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Hypoproteinemia, Cryptorchidism, Micropenis, Pulmonary lymphangiectasia, Short ne... |
OMIM:235255 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:269600 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hydronephrosis, Hypoproteinemia, Cryptorchidism, Abnormal renal morphology, M... |
ORPHA:1655 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Peritoneal effusion, Lymph... |
ORPHA:90362 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:600175 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Conjug... |
OMIM:214900 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... |
OMIM:271500 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue h... |
OMIM:607616 |
Sandhoff Disease |
|
Kyphosis, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... |
ORPHA:100024 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:280333 |
Harderoporphyria |
|
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... |
OMIM:618892 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Dengue Fever |
|
Hypoproteinemia, Leukopenia, Hepatomegaly, Thrombocytopenia, Ascites |
ORPHA:99828 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... |
OMIM:615559 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial instability, Atlant... |
OMIM:600561 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... |
OMIM:613095 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites |
ORPHA:100025 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:79238 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Anemia, Hepatomegaly, Ascites, Thrombocytosis, Iron deficiency anemia, Intestina... |
OMIM:226300 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:417 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Leptospirosis |
|
Jaundice, Acute kidney injury, Hyperproteinemia, Hepatomegaly, Hepatitis, Thrombocytopenia, Lymph... |
ORPHA:509 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Reduced natural kil... |
OMIM:614493 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Hepatomegaly, Increased total bilirubin, Back pain, Abnormality of the panc... |
ORPHA:2924 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... |
OMIM:301045 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Lumbar hyperlordosis, Thoracic kyphosis, Left ventricular hypertrophy, Elevated circulating creat... |
ORPHA:206546 |
Citrullinemia Type Ii |
|
Enuresis, Hypoproteinemia, Hepatocellular carcinoma, Acute hyperammonemia, Pancreatitis, Hepatic ... |
ORPHA:247585 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Spondylitis, Glomerulonephritis, Autoimmun... |
OMIM:619375 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Acute hepatic failure, Nephrocalcinosis, Enlarged kidney, Anemia, Eleva... |
OMIM:276700 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:617054 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hepatic failure, Hyperchol... |
ORPHA:75234 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... |
OMIM:609223 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... |
ORPHA:79301 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Cirrhosis, Reduced serum alpha-1-antitry... |
OMIM:613490 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Aa Amyloidosis |
|
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Immunodeficiency 76 |
|
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... |
OMIM:602347 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... |
OMIM:232220 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici... |
OMIM:256300 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase |
OMIM:617068 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:62 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Hypocalcemia, Hepat... |
OMIM:612526 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Anemia, Nephropathy, Nephrotic syndrome, Hyperlordosis |
ORPHA:1192 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal sacrum morphology, Enlarged kidn... |
ORPHA:464329 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatome... |
OMIM:615234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Short neck, Bone marrow ... |
OMIM:617303 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... |
OMIM:613101 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, I... |
OMIM:300635 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:306000 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Sple... |
OMIM:602390 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Elevated circulating aspartate... |
OMIM:614034 |
Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Hemophagocytosis, Anemia... |
ORPHA:158057 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hypoplas... |
OMIM:618641 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:615290 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syndrome, Elevate... |
OMIM:614727 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Scoliosis, Lumbar hyperlordosis, Elevated circulating creatine ki... |
ORPHA:353 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal form of the vertebral bodies, Splenomegaly, Anemia |
ORPHA:1802 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:618528 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Hyperlordosis |
ORPHA:352470 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevated circulating a... |
OMIM:605911 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Scoliosis, Cryptorchidism, Micropenis, Left ventricular hypertrophy, Elevated circulating creatin... |
OMIM:613156 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Lumbar hyperlordosis, Central vertebral hypoplasia, Short neck, Hepatomegaly, Vertebra... |
OMIM:602557 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp... |
OMIM:601198 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hep... |
OMIM:266200 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocyt... |
OMIM:308240 |
Rigid Spine Syndrome |
|
Scoliosis, Hyperlordosis, Spinal rigidity |
ORPHA:97244 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Abnormality of the ureter, Abnormal reticulocyte morphology, Kyphosis, Fused cervical... |
ORPHA:2522 |
Obsolete: Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome |
|
Hyperlordosis |
ORPHA:2292 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Cog7-Cdg |
|
Hepatosplenomegaly, Jaundice, Abnormality of the kidney, Short neck, Hepatomegaly, Elevated hepat... |
ORPHA:79333 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatosplenomegaly, Acute hepatic failure, Increased LDL cholesterol concentration,... |
OMIM:278000 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Scoliosis, Lumbar hyperlordosis |
OMIM:602484 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Atretic gallbladder, Bile duct proliferation, Hepato... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Renal insufficiency, Hepatomegaly, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalce... |
ORPHA:2123 |
Cyanosis, Transient Neonatal |
|
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612126 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase, Increased total bilir... |
ORPHA:890 |
Burkitt Lymphoma |
|
Hyperuricemia, Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology... |
ORPHA:543 |
Myopathy, Distal, 1 |
|
Mildly elevated creatine kinase, Scoliosis, Lumbar hyperlordosis, Elevated circulating creatine k... |
OMIM:160500 |
Coproporphyria, Hereditary |
|
Jaundice, Increased urinary porphobilinogen, Hepatomegaly, Elevated urinary delta-aminolevulinic ... |
OMIM:121300 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... |
OMIM:616689 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:158061 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Recurrent urinary ... |
ORPHA:731 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... |
OMIM:617394 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis |
OMIM:607088 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... |
OMIM:300853 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugat... |
OMIM:601847 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Short neck, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cy... |
OMIM:200995 |
Congenital Myopathy 16 |
|
Scoliosis, Lumbar hyperlordosis, Spinal rigidity |
OMIM:618524 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia |
OMIM:620152 |
Johanson-Blizzard Syndrome |
|
Hydronephrosis, Hypoproteinemia, Exocrine pancreatic insufficiency, Anemia, Hypoplasia of penis, ... |
ORPHA:2315 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Spinal canal stenosis, Abnormality of the tonsils, Abnormal vertebral morphology, S... |
ORPHA:93476 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Scoliosis, Lumbar hyperlordosis |
OMIM:619042 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia |
ORPHA:28 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly, Aminoaciduria |
ORPHA:664 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:369840 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ... |
OMIM:608836 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity |
OMIM:609308 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatom... |
OMIM:618495 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:161800 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Sacral dimple, Kyphosis, Enlarged kidney |
OMIM:618272 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... |
OMIM:179800 |
Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Jaundice, Hemophagocytosis, Anemia, ... |
ORPHA:167 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly |
ORPHA:56425 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:507 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia, Cardiome... |
OMIM:269920 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Galactosemia I |
|
Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Galactosuria, El... |
OMIM:230400 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis, Increased ci... |
OMIM:606069 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613818 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyper... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinem... |
OMIM:235555 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613723 |
Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Alaninuria, Elevated c... |
OMIM:615158 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Hyperlordosis, Elevated circulating creatine kinase concentration, Back pain |
OMIM:618129 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulating creatine kin... |
OMIM:615980 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity |
ORPHA:267 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... |
OMIM:226990 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Elevated circulating thyroid-stimulating hormone con... |
OMIM:617872 |
Mucolipidosis Iii Gamma |
|
Scoliosis, Short neck, Kyphosis, Increased serum beta-hexosaminidase, Hyperlordosis |
OMIM:252605 |
Fucosidosis |
|
Vacuolated lymphocytes, Scoliosis, Lumbar hyperlordosis, Oligosacchariduria, Hepatomegaly, Anteri... |
OMIM:230000 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypertriglycerid... |
OMIM:613027 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract... |
OMIM:619802 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... |
OMIM:207750 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... |
ORPHA:231222 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Abnorm... |
ORPHA:848 |
Nemaline Myopathy 2 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:256030 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf... |
OMIM:613812 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... |
ORPHA:79477 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatosplenomegaly, Scoliosis, Central vertebral hypoplasia, Short neck, Vertebral compression fr... |
ORPHA:93352 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Cholecysti... |
OMIM:235700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Spleno... |
ORPHA:79312 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Proteinuria, Abnormality of the kidney, Hepatic fibrosis, Hepatomegaly,... |
ORPHA:369 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Acute hepatic failure, Hemophagocytosis, Hemolytic-uremic syndrome, Renal ins... |
OMIM:619644 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Short neck, Horseshoe kidney, Unossified sacrum, Nephroblastomatosis, Absent in ... |
OMIM:608022 |
Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... |
ORPHA:53035 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Ascites, Spleno... |
ORPHA:1046 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, Hypokalemia,... |
OMIM:604278 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Anemia, Cholestasis, Hepatic fibrosis, Hypokalemia, Prolonged neonatal jaundice, Inc... |
OMIM:619377 |
Fanconi-Bickel Syndrome |
|
Proteinuria, Hypophosphatemia, Glycosuria, Intrahepatic cholestasis, Beta 2-microglobulinuria, Hy... |
OMIM:227810 |
Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:262 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Jaundice, Cryptorchidism, Elevated hepatic transaminase |
OMIM:608093 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Hyperammonemia, Elevated circulating acylcarnitine concentration, He... |
ORPHA:26791 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Jaundice, Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated ... |
ORPHA:26793 |
Liddle Syndrome |
|
Renal insufficiency, Nephropathy, Hypokalemia |
ORPHA:526 |
Schimke Immuno-Osseous Dysplasia |
|
Microscopic hematuria, Proteinuria, Decreased proportion of naive CD8 T cells, Lumbar hyperlordos... |
ORPHA:1830 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney, Short neck |
OMIM:613885 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm... |
OMIM:619463 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
OMIM:610717 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hydronephrosis, Nephrocalcinosis, Calcinosis, Renal artery stenosis, Hypokalemia, Hyponatremia, H... |
OMIM:617913 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Scoliosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase conc... |
OMIM:613327 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag... |
ORPHA:564178 |
Mucolipidosis Type Iii |
|
Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:577 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alp... |
OMIM:619662 |
Sialidosis Type 2 |
|
Hepatomegaly, Kyphosis, Nephropathy, Splenomegaly, Ascites |
ORPHA:87876 |
Babesiosis |
|
Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Hepa... |
ORPHA:108 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Joubert Syndrome 37 |
|
Hydronephrosis, Decreased testicular size, Cryptorchidism, Lumbar hyperlordosis, Micropenis, Hepa... |
OMIM:619185 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Elevated circulating ... |
ORPHA:52430 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Pancytopenia, ... |
OMIM:610333 |
Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Hepatomegaly, Kyphosis, Plat... |
OMIM:253000 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Scoliosis, Sacral dimple, Kyphosis, Hyperlordosis, Hypospadias |
OMIM:615761 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... |
OMIM:182900 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... |
OMIM:619991 |
Pearson Syndrome |
|
Hypoparathyroidism, Hyperalaninemia, Hepatomegaly, Hypokalemia, Lacticaciduria, Hypomagnesemia, P... |
ORPHA:699 |
Diastrophic Dysplasia |
|
Scoliosis, Lumbar hyperlordosis, Cervical kyphosis, Hypoplastic cervical vertebrae, Kyphoscoliosis |
OMIM:222600 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Galactose Mutarotase Deficiency |
|
Cholestasis, Hypergalactosemia, Hepatomegaly, Decreased liver function |
ORPHA:570422 |
Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Cervical spine instability, Short neck, Ovoid vertebral bo... |
OMIM:617396 |
Oculoskeletodental Syndrome |
|
Scoliosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Hyperlordosis, Hypercalcemia |
ORPHA:557003 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... |
OMIM:232200 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Myasthenic Syndrome, Congenital, 14 |
|
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis |
OMIM:616228 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma... |
OMIM:618314 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... |
OMIM:150550 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Conjugated hyperbilirubi... |
OMIM:211600 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:610313 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis, Splenomegaly |
OMIM:602271 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hyperammonemia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Renal tubular dysfunctio... |
ORPHA:289916 |
Overhydrated Hereditary Stomatocytosis |
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Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum... |
OMIM:241150 |
Mulchandani-Bhoj-Conlin Syndrome |
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Horseshoe kidney, Scoliosis, Hyperlordosis |
OMIM:617352 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heparan sulfate excretion in urine, Hepatosplenomegaly, Proteinuria, Lumbar hyperlordosis, Leukop... |
ORPHA:505248 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Anemia, Hepatomegaly, Sclerotic vertebral endplates, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Hepatocellular Carcinoma |
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Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Polycythemia, Anemia,... |
ORPHA:88673 |
Pfapa Syndrome |
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Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
King-Denborough Syndrome |
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Scoliosis, Cryptorchidism, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Elevated circulat... |
OMIM:619542 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Hypopituitarism, Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia... |
OMIM:600462 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Splenomegaly |
OMIM:608540 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
Spherocytosis, Type 5 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Autoinflammation With Infantile Enterocolitis |
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Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... |
OMIM:616050 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegal... |
OMIM:300400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
Immunodeficiency 54 |
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Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc... |
OMIM:609981 |
Ménétrier Disease |
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Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Ck Syndrome |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Elevated circulating creatine kina... |
ORPHA:86812 |
Adult-Onset Still Disease |
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Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis, Bone marrow ... |
ORPHA:829 |
Cystinosis |
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Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubular dysfu... |
ORPHA:213 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Cryptorchidism, Increased vertebral height, Kyphoscoliosis, Abnormal vertebral morphology, Hyperl... |
OMIM:616817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:606612 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
Osteopetrosis, Autosomal Dominant 3 |
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Hyperparathyroidism, Hepatomegaly, Splenomegaly, Anemia |
OMIM:618107 |
Hemochromatosis, Type 1 |
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Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Elevated hepatic transaminase, Cirrho... |
OMIM:235200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hepatosplenomegaly, Reticulocytosis, M... |
OMIM:613673 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Classic Mycosis Fungoides |
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Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Congenital Toxoplasmosis |
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Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopathy,... |
ORPHA:858 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
Follicular Lymphoma |
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Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Ataxia-Pancytopenia Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Myasthenic Syndrome, Congenital, 5 |
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Scoliosis, Hyperlordosis |
OMIM:603034 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Recurrent urinary tract infections, Leukopenia, Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:620210 |
Schimke Immunoosseous Dysplasia |
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Proteinuria, Lumbar hyperlordosis, Stage 5 chronic kidney disease, Thoracic kyphosis, Anemia, Sho... |
OMIM:242900 |
Dehydrated Hereditary Stomatocytosis |
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Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
Osteopetrosis, Autosomal Recessive 8 |
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Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia |
OMIM:615085 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u... |
ORPHA:251004 |
Spherocytosis, Type 2 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... |
OMIM:616649 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Ck Syndrome |
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Abnormal circulating cholesterol concentration, Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:251383 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... |
OMIM:618398 |
Dietary Iron Overload Disease |
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Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... |
ORPHA:139507 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt... |
OMIM:618805 |
Myasthenic Syndrome, Congenital, 16 |
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Hyperlordosis |
OMIM:614198 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Lumbar hyperlordosis, Increased vertebral height, Thoracic kyphoscoliosis, Hepatomegaly, Hepatiti... |
OMIM:613385 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... |
OMIM:251880 |
Glycogen Storage Disease Xii |
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Reduced haptoglobin level, Jaundice, Normocytic anemia, Anemia, Short neck, Elevated circulating ... |
OMIM:611881 |
Hypochondroplasia |
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Spinal canal stenosis, Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:429 |
Corticosteroid-Binding Globulin Deficiency |
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Decreased urinary potassium, Hypokalemia, Anemia |
OMIM:611489 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Right ventricular h... |
OMIM:253700 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Caroli Syndrome |
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Polycystic kidney dysplasia, Abnormality of the kidney, Leukocytosis, Hepatomegaly, Conjugated hy... |
ORPHA:480520 |
Immunodeficiency 7 |
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Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... |
OMIM:300971 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Scoliosis, Vertebral fusion, Exercise-induced myoglobinuria, Kyphosis, Elevated circulating creat... |
OMIM:607155 |
Myopathy, Centronuclear, 1 |
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Mildly elevated creatine kinase, Hyperlordosis |
OMIM:160150 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hyperlordosis |
ORPHA:3085 |
Bile Acid Conjugation Defect 1 |
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Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
OMIM:619232 |
Wolcott-Rallison Syndrome |
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Acute hepatic failure, Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Chronic kidne... |
ORPHA:1667 |
Colchicine Poisoning |
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Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Renal insufficiency, Hypokalemi... |
ORPHA:31824 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Fanconi Renotubular Syndrome 1 |
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Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair... |
OMIM:134600 |
Lymphoproliferative Syndrome 2 |
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Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Increased urine succinate level, Decreased plasma free carnitine, Left ventricular hypertrophy, E... |
OMIM:619048 |
Vipoma |
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Elevated circulating growth hormone concentration, Intermittent jaundice, Increased circulating p... |
ORPHA:97282 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Sickle Cell Disease |
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Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... |
OMIM:603903 |
Thrombocythemia 1 |
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Splenomegaly, Thrombocytosis |
OMIM:187950 |
Nemaline Myopathy 7 |
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Kyphoscoliosis, Lumbar hyperlordosis |
OMIM:610687 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... |
OMIM:205400 |
Renal Tubular Acidosis Iii |
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Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia |
OMIM:267200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Griscelli Syndrome |
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Abnormal circulating lipid concentration, Jaundice, Leukopenia, Abnormality of neutrophils, Bone ... |
ORPHA:381 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal... |
ORPHA:79303 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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Hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:615156 |
Oculoskeletodental Syndrome |
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Mucopolysacchariduria, Cryptorchidism, Scoliosis, Thoracic kyphosis, Hepatomegaly, Hypercalciuria... |
OMIM:618440 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly |
OMIM:618042 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Back pain |
OMIM:167320 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis, Elevated circulating creatine kinase concentration |
ORPHA:269 |
Igg4-Related Kidney Disease |
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Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Decreased liver fu... |
ORPHA:449395 |
Dubin-Johnson Syndrome |
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Biliary tract abnormality, Abnormal urinary color, Jaundice, Abnormality of the liver, Hepatomega... |
ORPHA:234 |
Gaucher Disease, Type Iii |
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Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Hyperlordosis, Elevated circulating creatine kinase concentration |
OMIM:613157 |
Atelosteogenesis, Type Ii |
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Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Horizontal sacrum, Increase... |
OMIM:256050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Macrocytic a... |
ORPHA:27 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia, Hepatomegaly, Elevated hepatic transaminase, Hypermanganesemia, Cirrhosis, Unconjug... |
OMIM:613280 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... |
OMIM:243300 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Acute kidney injury, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemi... |
ORPHA:90038 |
Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Kyphosis, Mildly elevated creatine kinase, Kyphoscoliosis, Hyperlordosis |
ORPHA:536516 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Pediatric Hepatocellular Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Hepatic fibrosis, Hepatomegaly, Portal vein... |
ORPHA:33402 |
Immunodeficiency 87 And Autoimmunity |
|
Jaundice, Decreased CD4:CD8 ratio, Hemolytic anemia, Cervical lymphadenopathy, Cholestasis, Eleva... |
OMIM:619573 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Scoliosis, Hyperconvex vertebral body endplates, Irregular vertebral endplates, Vertebral wedging... |
ORPHA:1159 |
Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies |
ORPHA:63446 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure |
ORPHA:60 |
Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... |
ORPHA:567983 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kina... |
OMIM:232400 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormality of the vertebral column, Hump-shaped mound of bone in central a... |
ORPHA:99642 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Spina bifida occulta, Vertebral segmentation d... |
ORPHA:1797 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... |
OMIM:224120 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Stage 5 chronic kid... |
ORPHA:79259 |
Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Spinal rigidity |
ORPHA:157973 |
Acute Panmyelosis With Myelofibrosis |
|
Low back pain, Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leu... |
ORPHA:86843 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excretion of s... |
OMIM:256550 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Decreased plasma carnitine, Hepatomegaly, Elevated circulating creatine... |
OMIM:500009 |
Propionic Acidemia |
|
Hyperammonemia, Hepatomegaly, Organic aciduria |
ORPHA:35 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase |
OMIM:613861 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Cryptorchidism, Hyperlordosis |
ORPHA:1387 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Mildly elevated creatine kinase, Hepatomegaly, Decreased plasma carnitine, Abnormality of the liver |
ORPHA:254864 |
Wilson Disease |
|
Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami... |
ORPHA:905 |
Gaucher Disease Type 1 |
|
Proteinuria, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Kyphosis, Cirrhosis, Ve... |
ORPHA:77259 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased glomerular filtration rate, Hepatomegaly, Decreased liver function, Hepatosplenomegaly,... |
ORPHA:85450 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Multicystic kidney dysplasia, Hyperlordosis |
OMIM:619980 |
H Syndrome |
|
Hepatosplenomegaly, Decreased testicular size, Abnormality of the kidney, Micropenis, Enlarged ki... |
ORPHA:168569 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Pseudodiastrophic Dysplasia |
|
Scoliosis, Lumbar hyperlordosis, Short neck, Tongue-like lumbar vertebral deformities, Platyspond... |
OMIM:264180 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Left ventricular hypertrophy, Renal insufficiency, Hypokalemia, Renal sodium wa... |
ORPHA:320 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Irregular vertebral endplates, Coronal cleft vertebrae, Kyphoscoliosis, Hyperlordosis |
OMIM:618363 |
Wolman Disease |
|
Bone-marrow foam cells, Anemia, Hepatomegaly, Hepatic failure, Splenomegaly, Ascites |
ORPHA:75233 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Cholelithiasis |
OMIM:605479 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Anemia, Hepatomegaly, Hypercalciuria, Primary hyperparathyroidism, ... |
OMIM:239200 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia |
OMIM:616589 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Ovoid vertebral bodies, Cervical subluxation, Hepatomegaly, Kyphosis, Platyspondyly, K... |
OMIM:253010 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fancon... |
OMIM:219800 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Short neck, Hypervalinemia, Hepatomegaly, Elevated hepatic transaminase, Elevated c... |
OMIM:615673 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Abnormal renal physiology, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatom... |
ORPHA:540 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell function, T lymph... |
ORPHA:277 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic failure, Splenomegaly |
OMIM:613489 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:255120 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Short neck, Hepatomegaly, Kyphosis, Ascites |
OMIM:608776 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Scoliosis, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:615704 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824< |