Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Short stature, Edema, Small for gestational age, Ch... |
ORPHA:97362 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos... |
OMIM:611590 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, H... |
OMIM:613845 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... |
OMIM:615234 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia |
ORPHA:28 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m... |
OMIM:609628 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Azoospermia, Decreased mean corpuscul... |
ORPHA:300298 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Renal cyst, Dehydration, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight pr... |
ORPHA:18 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia |
ORPHA:88 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis |
OMIM:604416 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, N... |
ORPHA:79312 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Polyhydramnios, Hyper... |
OMIM:241500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Lacticaciduria, Microcytic anemia |
OMIM:618811 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... |
OMIM:224120 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... |
OMIM:187800 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia |
OMIM:242880 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, Hydrops fetalis, Dehydration, Lactic acidosis, 3-Methylg... |
OMIM:557000 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased serum lactate, Increased ... |
OMIM:600462 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ... |
OMIM:612073 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... |
ORPHA:98870 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto... |
OMIM:606054 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Increased serum lactat... |
OMIM:274150 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Hepatic melanin-l... |
OMIM:208085 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... |
OMIM:300367 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate... |
OMIM:619147 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Erythema, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydrati... |
ORPHA:27 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Lactic acidosis, Hypoalbuminemia, ... |
OMIM:618805 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ... |
OMIM:617021 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac... |
OMIM:251110 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyp... |
OMIM:251000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Weight loss, Leuko... |
ORPHA:33355 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephroc... |
OMIM:143880 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Failure to thrive, Metabolic acidosis, Anemia |
OMIM:610090 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Decreased body weight, Short stature, Ketoacidos... |
ORPHA:1667 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Postnatal growth retardation, Microvesicular hepatic steatosis, Normochromic microcy... |
OMIM:610198 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Metabolic acidosis, Amin... |
OMIM:230400 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... |
ORPHA:713 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi... |
OMIM:246450 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, I... |
OMIM:251900 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Growth delay, Dis... |
OMIM:602722 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g... |
ORPHA:340 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Dermatitis Herpetiformis |
|
Skin vesicle, Erythema, Microcytic anemia |
ORPHA:1656 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia |
OMIM:300752 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome... |
OMIM:232220 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unres... |
OMIM:258900 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Failure to thrive, Elevated circulating alph... |
OMIM:276700 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepa... |
OMIM:619013 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop... |
ORPHA:507 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:600901 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Short stature, Microcytic anemia, Failure to thrive, HbH hemoglobin |
ORPHA:98791 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... |
OMIM:257200 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Increased serum lactate, Lactic acidosis, Growth delay, Pallo... |
OMIM:613561 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Hydrops fetalis, Renal cyst, Dehydration, Lactic acidosis, Abnor... |
ORPHA:699 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Failure to thrive, Proteinuria, Edema, Congenital hypoplastic anemi... |
ORPHA:77297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Short stature, Splenomegaly, Spherocytosis, Growth delay |
ORPHA:251066 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... |
OMIM:613090 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:227650 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Edema, Increased serum lactate, Ketoacidosis, Leukocytosis, Hyperammonem... |
ORPHA:134 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Increased serum lactate, Hypospadias, Microcytic anemia |
OMIM:618972 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Increased serum lactate, Elevated circulating creatinine concentratio... |
OMIM:617872 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Hematuria, Ascites |
ORPHA:90308 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Short stature, Lymphadenopathy, Microcytic anemia |
OMIM:619750 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Isovaleric Acidemia |
|
Pancytopenia, Ketoacidosis, Hyperglycinuria, Dehydration, Metabolic acidosis, Leukopenia, Bone ma... |
OMIM:243500 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:603278 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... |
ORPHA:251004 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphos... |
ORPHA:94086 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin... |
OMIM:277900 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Increased serum lactate, Leukocytosis, Jaundi... |
ORPHA:20 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tub... |
OMIM:616457 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Increased serum lactate, Microvesicular hepatic steatosis, Hypochromic micro... |
ORPHA:66634 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... |
OMIM:602522 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Weight ... |
ORPHA:69077 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Dehydration, Chole... |
OMIM:619377 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... |
ORPHA:508542 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Hepatocellular carcinom... |
ORPHA:2088 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Failure to thrive, Dicarboxylic aciduria, Ketoacid... |
ORPHA:289504 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:227645 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Failure to thrive, Postnat... |
OMIM:227810 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Dry skin, Cutis laxa, Microcytic anemia |
OMIM:612379 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Cystinosis, Nephropathic |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... |
OMIM:219800 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperli... |
OMIM:232240 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Lactic acidosis, Intrauterine growth retard... |
OMIM:620135 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia |
OMIM:618116 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-reactive protein conce... |
ORPHA:90051 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Skin ulcer, An... |
ORPHA:231226 |
Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuri... |
OMIM:300322 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Small for gestational age, Splenomega... |
OMIM:618440 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Granulomatous Slack Skin |
|
Redundant skin, Hypercalcemia, Erythema, Abnormal lymph node morphology, Nephrocalcinosis, Cutis ... |
ORPHA:33111 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne... |
OMIM:266130 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia |
OMIM:613101 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Failure to thrive |
OMIM:612740 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Small for gestational age, Thr... |
OMIM:260400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia... |
ORPHA:440713 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc... |
OMIM:613404 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Thrombocytopenia |
ORPHA:67048 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl... |
ORPHA:3337 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methy... |
ORPHA:445038 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Po... |
ORPHA:2169 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, 3-Methylglutaconic aciduria, Gra... |
OMIM:302060 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Microcytic anemia, Moderate intrauterine growth retardation, Severe postnatal grow... |
ORPHA:293967 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho... |
ORPHA:96180 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed puberty, Nephrolithiasis, Lacti... |
OMIM:232200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Lactic acidosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, ... |
ORPHA:79259 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Combined Malonic And Methylmalonic Aciduria |
|
Ketoacidosis, Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:601678 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Non... |
OMIM:619003 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Growth de... |
OMIM:614857 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo... |
ORPHA:79282 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra... |
ORPHA:230 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic... |
ORPHA:276556 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl... |
ORPHA:534 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormality of the kidney, Microcytic anemia, Hepatosplenome... |
ORPHA:168569 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Leukocytosis, Abnormal b... |
ORPHA:31824 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large for gestational ... |
OMIM:616026 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Severe short stature, Short stature, Small for gestational age, Hyper... |
OMIM:127000 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... |
ORPHA:2330 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Poly... |
ORPHA:89938 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, ... |
ORPHA:810 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp... |
OMIM:145600 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th... |
ORPHA:2785 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Oliguria, We... |
ORPHA:514 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren... |
OMIM:243910 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Tufted Angioma |
|
Anemia, Petechiae, Thrombocytopenia, Purpura |
ORPHA:1063 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:241200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Diabetic ketoacidosis, Abnorma... |
ORPHA:99886 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... |
OMIM:227646 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... |
ORPHA:1046 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal dysplasia,... |
OMIM:300990 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Acanthocytosis |
OMIM:604777 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Lactic acidosis, Aminoaciduria, Bone marrow hypocel... |
OMIM:614520 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic... |
ORPHA:276575 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Increased serum lactate... |
OMIM:255125 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH a... |
OMIM:612462 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Lactic acidosis, Anemia, Delayed puberty |
ORPHA:2598 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Failure to thrive, Short stature, Abnormal ... |
ORPHA:320 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hypospadias, Short stature, Small for gestational age, Microcytic anemi... |
ORPHA:2959 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Postnatal growth retardation, Increased blood ure... |
ORPHA:90321 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic... |
ORPHA:276580 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Abnormal circu... |
ORPHA:79277 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... |
OMIM:620152 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Polyhydramnios, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine gro... |
OMIM:618947 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein c... |
ORPHA:54251 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethylmalonic aciduria, Incr... |
ORPHA:26792 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin |
ORPHA:90036 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepato... |
OMIM:619487 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... |
OMIM:615453 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased serum lactate, Copper accumulation in liver, Lactic acidosis, Anemia, Aminoaciduria, Gr... |
OMIM:614946 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Dehydration, Renal tubular ... |
ORPHA:213 |
Fumarase Deficiency |
|
Failure to thrive, Increased urine succinate level, Bilateral fetal pyelectasis, Polyhydramnios, ... |
OMIM:606812 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Palpebral edema, Short stature, S... |
ORPHA:99843 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,... |
OMIM:618253 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoac... |
ORPHA:436271 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Increased serum lactate, Dehydration, Growth delay, Leukopenia, 3-Met... |
OMIM:616271 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni... |
OMIM:615512 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Hyperphosphatemia, Hypocalcemic seizur... |
ORPHA:93325 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammone... |
OMIM:620358 |
Sengers Syndrome |
|
Increased serum lactate, Lactic acidosis, Growth delay, 3-Methylglutaconic aciduria, Exercise-ind... |
OMIM:212350 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Metabolic acidosis, Failure to thrive |
OMIM:264350 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Rosaï-Dorfman Disease |
|
Anemia |
ORPHA:158014 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallo... |
ORPHA:99931 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp... |
OMIM:239000 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Pseudohypoparathyroidism, Type Ia |
|
Short stature, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration,... |
OMIM:103580 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Ascites, Anemia, Hepatomegaly |
ORPHA:2123 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Abnormality of thrombocytes, Splenomegaly,... |
OMIM:612840 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Hypochromic m... |
OMIM:619423 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym... |
OMIM:615895 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha... |
OMIM:150550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction,... |
OMIM:220110 |
Amme Complex |
|
Hematuria, Intrauterine growth retardation, Elliptocytosis |
OMIM:300194 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Increased serum lactate, Decreased plasma free car... |
OMIM:619048 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp... |
OMIM:211000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Type 1 Diabetes Mellitus |
|
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease... |
ORPHA:95409 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoacidu... |
OMIM:604273 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Lactic acid... |
ORPHA:466650 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... |
ORPHA:79159 |
Isolated Agammaglobulinemia |
|
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp... |
ORPHA:229717 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Lactic acidosis, Hepat... |
ORPHA:264580 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... |
OMIM:230350 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hepatic steatosis, Hyp... |
ORPHA:247598 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... |
OMIM:251120 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc... |
OMIM:259720 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Short stature, Elevated circulating creatine ki... |
OMIM:610377 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly |
OMIM:121300 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas... |
OMIM:619386 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria |
ORPHA:86818 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... |
ORPHA:160 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... |
OMIM:254900 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:36913 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit... |
OMIM:256700 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia, Facial erythema |
ORPHA:284227 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Increased serum lactate, Metabolic acidosis |
OMIM:615158 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alpha granules, Im... |
OMIM:187900 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Short stature, Small for gestational age, Meg... |
OMIM:277380 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, T... |
ORPHA:906 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita... |
ORPHA:324575 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decrease... |
ORPHA:3261 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Polyhydramnios, Cardiomegaly, Large for gestational age, He... |
ORPHA:116 |
Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Myocardial infarction, Splenomegaly, Congestive heart failure, Le... |
ORPHA:108 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Growth delay, Hypocholesterolemia, Increased hepatocellular... |
ORPHA:71 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Purpura, Abnormality of neutrophils, Perior... |
ORPHA:33226 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:203400 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Cardiomegaly, Lact... |
OMIM:618838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... |
OMIM:300842 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Skin ulcer |
ORPHA:280062 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Dehydration, Lactic acidosis, Leukopenia, Hyp... |
ORPHA:99826 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w... |
OMIM:604278 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Hypokal... |
OMIM:617913 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypopho... |
OMIM:156400 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Short stature, Polyuria, Renal salt wasting, Elevated serum bica... |
OMIM:612780 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... |
OMIM:614492 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... |
OMIM:253270 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis |
OMIM:200150 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... |
ORPHA:2118 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemolytic ane... |
ORPHA:797 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Polyhydramnios, Nephrocalcinosis, Neutropenia, Intrauterine growth retardation, Fa... |
OMIM:618005 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:620010 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:610600 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Fibrodysplasia Ossificans Progressiva |
|
Anemia |
ORPHA:337 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Hyperphosphatemia, Hypocalcemia, Severe intrauterine growth retarda... |
OMIM:241410 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Gitelman Syndrome |
|
Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, In... |
OMIM:263800 |
Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormality of the liver, Abnormal concentration of acylcarn... |
ORPHA:391457 |
Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia |
OMIM:152700 |
Immune Thrombocytopenia |
|
Petechiae, Thrombocytopenia, Purpura |
ORPHA:3002 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo... |
OMIM:269920 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia |
OMIM:304800 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, ... |
ORPHA:520 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity, Polyhydramnios |
OMIM:615633 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Failure to thrive, Abnormal blood ion concentration, Abnormal tubulointerstiti... |
ORPHA:411629 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Dry skin, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hype... |
ORPHA:428 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Short stature, Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome |
OMIM:530000 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin, Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic a... |
OMIM:611719 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Dehydration, Increased circulating reni... |
ORPHA:556030 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Increased serum lactate, Dehydration, Metabolic acidosis, Intrauterine growth retar... |
OMIM:618958 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva... |
ORPHA:79284 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp... |
OMIM:251880 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,... |
ORPHA:99901 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Hypoalbuminemia, Hypocalcemia, Decreased proportion of CD3-positive T... |
ORPHA:90362 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Failure to thrive, Polyhydramnios |
ORPHA:500533 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, N... |
OMIM:618835 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Lactic acidosis, Growth delay, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Pericardial effusi... |
OMIM:618775 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Dehydration, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy... |
OMIM:301040 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Unilateral renal agenesis, Bone marrow hypocellul... |
OMIM:614900 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Bone marrow hypocel... |
OMIM:609053 |
Pseudohypoaldosteronism, Type Iie |
|
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614496 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, N... |
OMIM:618839 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:620184 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... |
OMIM:615838 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho... |
ORPHA:774 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Lymph... |
ORPHA:39041 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight, Pallor |
ORPHA:276608 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
X-Linked Agammaglobulinemia |
|
Short stature, Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Skin u... |
ORPHA:47 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipi... |
ORPHA:369 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive |
OMIM:236795 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... |
OMIM:619632 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Slender build, Polyhydramnios |
OMIM:611087 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia |
ORPHA:2325 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, Hyperglycin... |
OMIM:615330 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,... |
OMIM:619525 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... |
OMIM:615398 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Short stature, Hypocalcemia |
ORPHA:557003 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos... |
OMIM:612075 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia |
ORPHA:75233 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang... |
ORPHA:567548 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, ... |
ORPHA:85138 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Familial Hyperaldosteronism Type Iii |
|
Metabolic alkalosis, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria |
ORPHA:251274 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased serum lactate, Increased... |
OMIM:222700 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Short stature, Postnatal growth retardation, Hyperphosphatemia, Hypocalcemia... |
ORPHA:2323 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating c... |
ORPHA:247691 |
Pseudopseudohypoparathyroidism |
|
Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation |
ORPHA:79445 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Dehydra... |
ORPHA:173 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo... |
ORPHA:423 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... |
ORPHA:210136 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration |
OMIM:610370 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hyperammonemia, Cholestasis, Lactic acidosis, Aminoaciduria, Hepatic fibrosis, Cirr... |
OMIM:615486 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Short stature, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... |
ORPHA:94089 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Pericardial effusion, Abnormal renal tubular resorption, Hyperca... |
ORPHA:73224 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Short stature, Mild postnatal growth retardation, Unilateral renal age... |
OMIM:101800 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Decreased cir... |
OMIM:618183 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Edema, Pancreatitis, Leukocytosis, Hyperkalemia, Oliguria... |
ORPHA:544482 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614495 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Acanth... |
ORPHA:14 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Decreased urinary potassium |
OMIM:611489 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, H... |
ORPHA:3008 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestationa... |
ORPHA:26793 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... |
OMIM:620366 |
Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Dehy... |
OMIM:214700 |
Short Stature With Microcephaly And Distinctive Facies |
|
Severe short stature, Small for gestational age, Anisopoikilocytosis, Decreased body weight, Anemia |
OMIM:615789 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt... |
ORPHA:3386 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Lactic acidosis, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalanine... |
ORPHA:298 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Edema, Acidosis, Increased serum lactate, Leukocytosis, ... |
ORPHA:391673 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Hyperimidodipeptiduria, Splenomegaly, Skin ulcer, Anemia, Increased circ... |
OMIM:170100 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Increased serum lactate, Lactic acidosis, Organic aciduria |
OMIM:614741 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Delayed puberty... |
ORPHA:575 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Imbal... |
ORPHA:330015 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, C... |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate, Ketoacidosis, Metabolic a... |
OMIM:614582 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Erythema, Intracranial hemorrhage, Cerebral ischem... |
ORPHA:449285 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... |
OMIM:272300 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor |
ORPHA:95512 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration,... |
ORPHA:263455 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Renal insufficiency, Purpura, Elevated circulating C-reactive protein concentration,... |
ORPHA:319213 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Increased serum... |
OMIM:614702 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, ... |
OMIM:226300 |
Hypotonia-Cystinuria Syndrome |
|
Increased serum lactate, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Lactic acidos... |
OMIM:606407 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Anemia, Weight l... |
ORPHA:47612 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Chronic lact... |
OMIM:603358 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma ... |
OMIM:616034 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure t... |
ORPHA:1842 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Increased circulat... |
OMIM:613179 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy |
OMIM:616833 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... |
OMIM:614576 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Short stature, Hepatomegaly |
ORPHA:417 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Thrombocytopenia |
OMIM:614727 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Weight ... |
ORPHA:2070 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ... |
ORPHA:2584 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... |
ORPHA:143 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Petechiae, Reduced natural killer cell activity, Increased ci... |
ORPHA:540 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Perica... |
OMIM:181000 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature |
OMIM:613312 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch... |
ORPHA:2394 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respo... |
ORPHA:79444 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97282 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor |
ORPHA:95513 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Potocki-Shaffer Syndrome |
|
Anemia |
ORPHA:52022 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pulmonary edema, Leukocytosis, Oliguria, Pedal edema, Weight loss, Pleural e... |
ORPHA:188 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Dehydration, Agammaglobulinemia, Neutropenia, Failure to thrive |
ORPHA:33110 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Cir... |
OMIM:616539 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, ... |
OMIM:618120 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias, Short stature |
ORPHA:2522 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Metabolic acidosis, Neonatal death, Intrauterine growth retardation, Fai... |
OMIM:618237 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Join... |
ORPHA:905 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr... |
OMIM:105200 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, H... |
ORPHA:171876 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Failure to thrive,... |
OMIM:618495 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... |
OMIM:615751 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Polysplenia |
OMIM:614294 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Growth ... |
OMIM:245400 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Iron deficiency ane... |
OMIM:618885 |
Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Peritonitis, Erythema, Pedal edema, Lymphadenopathy, Nephrocalcinosis,... |
ORPHA:342 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Short stature |
OMIM:617101 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Decre... |
ORPHA:369837 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Erythema |
OMIM:177000 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Tularemia |
|
Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l... |
ORPHA:3392 |
Sheehan Syndrome |
|
Hyponatremia, Obesity, Normochromic anemia, Hyposthenuria, Pallor, Dry skin |
ORPHA:91355 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Leigh Syndrome |
|
Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... |
ORPHA:506 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Petechiae, Lactic acidosis, Abnormal renal corticomedullary differentiation, Pleura... |
OMIM:617397 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... |
OMIM:618886 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... |
OMIM:616299 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... |
OMIM:615026 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Skin ulce... |
ORPHA:834 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respo... |
ORPHA:79443 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... |
OMIM:212138 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Lack of skin elasticity, Dehydration, Dry skin |
ORPHA:313 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting, Dehydration, Delayed puberty, Failure to thrive |
OMIM:300200 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... |
OMIM:605676 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Netherton Syndrome |
|
Short stature, Ectopic kidney, Increased circulating IgE level, Dehydration, Decreased circulatin... |
ORPHA:634 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia |
OMIM:614652 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Eleva... |
OMIM:256040 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227990 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis |
OMIM:145980 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Myoglobinuria, Neonatal death, Dehydration |
OMIM:602199 |
Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Organic aciduria, Neonatal death |
OMIM:617184 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Intrauterine growth retardation, Redundant skin, Neonatal death |
OMIM:301021 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In... |
OMIM:615824 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis, Dehydration |
OMIM:223000 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Metabolic acidos... |
OMIM:615605 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decr... |
ORPHA:99867 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Splenomegaly, Lymphadenitis, Recurrent tonsi... |
OMIM:618935 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia |
OMIM:614450 |
3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:250950 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Necrolytic migratory eryth... |
ORPHA:97280 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Short stature,... |
OMIM:620210 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-... |
OMIM:256550 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic ... |
OMIM:615630 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... |
OMIM:617671 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia |
OMIM:618165 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Erythema, Respiratory acidosis, Nephrotic syndrome, Focal segme... |
OMIM:614748 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocytopenia, Lactic acidosis, Cereb... |
OMIM:611126 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid... |
OMIM:312170 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula... |
ORPHA:335 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227982 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelling, Micropenis |
ORPHA:96123 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... |
ORPHA:30 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Alpha-Methylacetoacetic Aciduria |
|
Episodic ketoacidosis, Dehydration |
OMIM:203750 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai... |
ORPHA:423479 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... |
OMIM:614739 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... |
ORPHA:99880 |
Q Fever |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematuria, Anemi... |
ORPHA:781 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,... |
OMIM:615471 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites |
ORPHA:87876 |
Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Thrombocytopenia |
ORPHA:275555 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Erythema, Hepatomegaly |
ORPHA:53715 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lactic acidosis, Growth delay, Hyperuricemia, H... |
OMIM:306000 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... |
ORPHA:485405 |
Dermotrichic Syndrome |
|
Anemia |
ORPHA:99688 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Metabolic acidosis, Failure to thrive, Small for gestational age, Dehydration |
OMIM:214150 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Short stature, Long penis, Nephrocalcinosis, Diabetic ketoacidosis, Hypokalemia... |
ORPHA:769 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, H... |
OMIM:267700 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia |
OMIM:226670 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Junctional Epidermolysis Bullosa Inversa |
|
Anemia |
ORPHA:79405 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... |
ORPHA:91547 |
Hemochromatosis, Type 4 |
|
Anemia |
OMIM:606069 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... |
OMIM:609981 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Bone marrow hypocellularity, Thro... |
ORPHA:3322 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrom... |
OMIM:617303 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Decreased body weight, Short stature, Hepatomegaly |
OMIM:607906 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnor... |
ORPHA:391428 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia |
OMIM:193100 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact... |
OMIM:605711 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Edema, Pericardial eff... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate, Cholestasis, Metabolic ac... |
OMIM:609060 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ... |
ORPHA:562 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis, Asplenia |
OMIM:240300 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis, Abnormality of the ur... |
ORPHA:2204 |
Stevens-Johnson Syndrome |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnorm... |
ORPHA:36426 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Takayasu Arteritis |
|
Skin ulcer, Anemia, Weight loss |
ORPHA:3287 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... |
ORPHA:3156 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met... |
OMIM:615160 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metaboli... |
ORPHA:348 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Reduced... |
OMIM:603553 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Dehydration, Hepatosplenomegaly, Cirrhosis, Fail... |
OMIM:219700 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of... |
OMIM:619573 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypochromic anemia, Short stature, Abnormality of neutrophils, Abnormal renal tubule morphology |
ORPHA:2720 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc... |
ORPHA:508 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Po... |
ORPHA:223 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, 3-Methylglutaconic aciduria |
OMIM:614053 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypochr... |
ORPHA:97214 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
Ollier Disease |
|
Anemia |
ORPHA:296 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Lymphedema, Splenomegaly, Anemia |
ORPHA:2930 |
Anti-Glomerular Basement Membrane Disease |
|
Anemia |
ORPHA:375 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Increased serum lactate, Proximal renal tubular acidosis,... |
OMIM:266150 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c |
OMIM:618858 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated ... |
ORPHA:90794 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... |
OMIM:619902 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Abnormal medullary ... |
ORPHA:79243 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Arrhythmia |
ORPHA:57 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Short stature, Hypospadias, Polyhydramnios, Intrauterine growth retardation, M... |
ORPHA:363528 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma... |
OMIM:614105 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o... |
ORPHA:169105 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia |
OMIM:614742 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ketoacidosis, Lactic acidosis, Metabolic acidosis |
OMIM:246900 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Edema |
ORPHA:324964 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Cervi... |
ORPHA:653 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia |
OMIM:612300 |
Boutonneuse Fever |
|
Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Petechiae |
ORPHA:83313 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level, F... |
OMIM:177735 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Short stature, Polyhydramnios, Thrombocytopenia, Renal hypoplasia, Leukopenia,... |
OMIM:603467 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... |
OMIM:619868 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Failure to thrive, Renal salt wasting, Hyperkalemia, Abnormal urine potassium conce... |
ORPHA:168558 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Myocarditis, Splenomeg... |
ORPHA:809 |
Melas |
|
Proteinuria, Short stature, Increased serum lactate, Erythema, Lactic acidosis, Focal segmental g... |
ORPHA:550 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria |
OMIM:618247 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, Elevated urine suberi... |
OMIM:248360 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconi... |
ORPHA:254913 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Failure to thrive, Renal salt wasting, Hyperkalemia, Abnormal urine potassium conce... |
ORPHA:289548 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tr... |
ORPHA:1414 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, Bicarbonaturia, Proximal rena... |
OMIM:229600 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level, Polyhydramnios, Dehydration |
OMIM:616069 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79406 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... |
ORPHA:545 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Macrovesicular hepati... |
OMIM:618234 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate, Left... |
OMIM:614458 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Chron... |
ORPHA:324525 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Dengue Fever |
|
Hepatomegaly, Thrombocytopenia, Leukopenia, Ascites, Petechiae |
ORPHA:99828 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... |
ORPHA:90791 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Left ventri... |
OMIM:618228 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Acquired Von Willebrand Syndrome |
|
Hematuria, Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Increased serum lactate, Splenomegaly, Postnatal growth retar... |
OMIM:613027 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosp... |
OMIM:307800 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy |
OMIM:618321 |
Degcags Syndrome |
|
Polyhydramnios, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Pallor, Hepatomeg... |
OMIM:619488 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Small for gestational age, Hypercalciuria, Nephrolithiasis, Cutis laxa... |
ORPHA:666 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Left ventricular hyper... |
OMIM:616974 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Ren... |
OMIM:614922 |
Cog4-Cdg |
|
Cirrhosis, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased body weight, Proteinuria, Abnormality of body weight, Increased circu... |
ORPHA:2298 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Small for gestational age, Edema, Increased serum lactate, Lactic acidosis, ... |
OMIM:610498 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Lactic acidosis, Failure to thrive, Metabolic acidosis |
ORPHA:91130 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Erythema, Skin ulcer,... |
ORPHA:537 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Hypophosphatasia |
|
Anemia |
ORPHA:436 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Growth delay, Failure... |
OMIM:618226 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
Solitary Rectal Ulcer Syndrome |
|
Anemia |
ORPHA:209964 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Cardiomegaly |
OMIM:614473 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Anemia |
OMIM:184850 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Hyperechogenic pancreas, Thrombocyto... |
OMIM:617941 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Angioedema, Erythema, Hepatitis, Lymphadenopathy, Weight loss,... |
ORPHA:139402 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the pan... |
ORPHA:400 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Obesity |
OMIM:619737 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Oligohydr... |
OMIM:619053 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Increase... |
ORPHA:199343 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia |
ORPHA:79411 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la... |
OMIM:619055 |
Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal... |
OMIM:619534 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Weight loss, Joint swelling, Pleural effu... |
ORPHA:35687 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Metabolic a... |
ORPHA:469 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Ethylmalonic aciduria, Fail... |
OMIM:602473 |
Hereditary Coproporphyria |
|
Tachycardia, Anemia |
ORPHA:79273 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Postnatal growth retardation, Lactic ac... |
OMIM:616111 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... |
OMIM:210210 |
Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Pallor, Hypophosphatemia... |
ORPHA:667 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... |
OMIM:615122 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac... |
ORPHA:99829 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Increased serum lactate, Hyperalaninemia, Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Anemia, Ascites, Thrombocytopenia |
OMIM:608104 |
Alg8-Cdg |
|
Cutis laxa, Anemia, Premature skin wrinkling, Ascites, Thrombocytopenia |
ORPHA:79325 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Urethritis, Peritonitis, Hepatit... |
ORPHA:2552 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Increased circu... |
ORPHA:1304 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Hepatomegaly, Failure to thrive, Acidosis |
OMIM:618235 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney, Obesity |
OMIM:613464 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Dehydration, Growth delay, ... |
ORPHA:95427 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis, Intrauterine growth retardation |
OMIM:618776 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Pleural empyema, Pleural effusion, Anemia |
ORPHA:67 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Lactic acidosis, Renal Fanconi syndrom... |
ORPHA:53693 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c |
OMIM:606176 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Thrombocytopenia |
OMIM:617710 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Metabol... |
ORPHA:941 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Jeune Syndrome |
|
Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy |
ORPHA:474 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95613 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Hepatomegaly |
OMIM:618224 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Failure to thrive, Short stature, Cholangitis, Edema, Rhizome... |
OMIM:266920 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Acute Radiation Syndrome |
|
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypoc... |
OMIM:264700 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Lactic acidosis, Metabolic acidos... |
OMIM:615595 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Growth delay, Reduced renal corticomed... |
OMIM:618541 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... |
OMIM:618250 |
Thrombocytopenia 1 |
|
Petechiae, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Failure to thrive, Increased serum lactate, Abnormal circulating pyruvate family... |
ORPHA:255182 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... |
ORPHA:244242 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... |
ORPHA:99885 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Short stature, Lymphadenopathy |
OMIM:607271 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric aci... |
OMIM:231670 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy... |
ORPHA:2686 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Incr... |
OMIM:222470 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal ... |
OMIM:616541 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation |
OMIM:615440 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Increased serum lactate, Mic... |
OMIM:613070 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... |
ORPHA:1572 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Metabolic acidosis, Growth delay, Aminoaciduria, Micropenis, Failure ... |
OMIM:220120 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased serum l... |
OMIM:617713 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Eosinophilia, Erythema, Vasculitis in the skin, Neutropenia,... |
OMIM:615816 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level |
OMIM:620126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyper... |
OMIM:619051 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Dry skin |
OMIM:617388 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hydrops fetalis, Hem... |
ORPHA:77261 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin... |
OMIM:210200 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundice, Failure to thrive, Thromboc... |
OMIM:251290 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Failure to thrive, Hepatic steatosis |
ORPHA:70472 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Purpura, Petechiae, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, Me... |
ORPHA:91138 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... |
OMIM:619705 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Psor... |
OMIM:614700 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level |
OMIM:620125 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Abnormal heart ... |
ORPHA:505248 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Portal hyp... |
OMIM:194050 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Severe lactic acidosis |
ORPHA:254857 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,... |
OMIM:614052 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk... |
ORPHA:292 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... |
OMIM:619355 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis, Polyhydramnios |
OMIM:616794 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Pedal edema, Anemia |
ORPHA:3452 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia |
OMIM:618372 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Cardiome... |
ORPHA:904 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate |
OMIM:617228 |
Porphyria Variegata |
|
Skin vesicle, Hypertension, Tachycardia, Anemia |
ORPHA:79473 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Polyuria |
OMIM:273120 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Intrauterine grow... |
ORPHA:1133 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha... |
ORPHA:289157 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Dry skin, Scaling skin, Anemia |
OMIM:620370 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis, Severe short stature |
OMIM:204730 |
Mevalonic Aciduria |
|
Splenomegaly, Short stature |
ORPHA:29 |
Hsd10 Mitochondrial Disease |
|
Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis |
OMIM:300438 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Petechiae, P... |
OMIM:225750 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Acanthocytosis |
OMIM:234200 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia |
ORPHA:330012 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom... |
ORPHA:289390 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Hydroxykynureninuria |
|
Tachycardia, Dry skin, Hypotension |
ORPHA:79155 |
Enteric Anendocrinosis |
|
Portal hypertension, Cholestatic liver disease, Hyperchloremic metabolic acidosis, Dehydration |
ORPHA:83620 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Ascites, Anemia |
OMIM:615758 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Increased serum lactate |
OMIM:616198 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Lactic acidosis, Micropenis, Hypospadias, Hydrops fetalis |
OMIM:618815 |
Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema |
ORPHA:3165 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Weismann-Netter Syndrome |
|
Anemia |
ORPHA:3344 |
Ileal Neuroendocrine Tumor |
|
Edema, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Hydronephr... |
ORPHA:100078 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Short stature, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Vitamin D-Dependent Rickets, Type 3 |
|
Growth delay, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... |
ORPHA:71212 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Thymoma, Dehydration, Hyper... |
ORPHA:652 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Stress/infection-induced lactic acidosis, Abnormal circulating carnitine conce... |
ORPHA:431361 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath... |
ORPHA:549 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate |
OMIM:618378 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Anemia, Iron... |
ORPHA:79408 |
Immunodeficiency 40 |
|
T lymphocytopenia, Macrovesicular hepatic steatosis, Thrombocytopenia, Hepatomegaly |
OMIM:616433 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Lactic acidosis, Intrauterine growth retardation, Failure to thrive |
OMIM:618246 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis, Excessive wrinkled skin, Lack of skin elasticity, Striae distensae |
ORPHA:758 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Failure to thrive, Intermittent thrombocytopeni... |
OMIM:612541 |
Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Failure to thrive, Dehydration |
OMIM:615237 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Lactic acidosis, Hyperalaninemia, Small for gestational age |
OMIM:615917 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,... |
OMIM:613327 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Failure to thrive in infancy |
ORPHA:264675 |
Poems Syndrome |
|
Edema, Pericardial effusion, Lymphadenopathy, Weight loss, Increased circulating antibody level, ... |
ORPHA:2905 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Dry skin, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombo... |
OMIM:608013 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hepatomegaly, Hypospadias, Splen... |
OMIM:252010 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Intra... |
OMIM:610678 |
Fanconi Anemia, Complementation Group R |
|
Anemia |
OMIM:617244 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Opsismodysplasia |
|
Rhizomelia, Polyhydramnios, Edema, Renal phosphate wasting, Disproportionate short-limb short sta... |
OMIM:258480 |
Ethylmalonic Encephalopathy |
|
Lactic acidosis, Failure to thrive, Ethylmalonic aciduria, Petechiae |
ORPHA:51188 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphope... |
ORPHA:93552 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:230900 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Graft Versus Host Disease |
|
Tachycardia, Hepatosplenomegaly, Hemophagocytosis, Scaling skin, Failure to thrive |
ORPHA:39812 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hyperglycinuria, Metabolic acidosis, Medium chain dicarboxylic aciduria, Hepatic st... |
OMIM:201450 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Elevated circul... |
OMIM:263700 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep... |
OMIM:618652 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Failure to thrive, Mildly elevated creatine kinase |
ORPHA:536516 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... |
OMIM:140350 |
Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Small for gestational age, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubuloint... |
ORPHA:183 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat... |
OMIM:617827 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Pedal edema, Weight loss, Nephrotic syndrome, Nep... |
ORPHA:330001 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Lactic acidosis, Failure to thrive in infancy, Short stature |
OMIM:619065 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia |
OMIM:613990 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Renal dy... |
ORPHA:85321 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Polyhydramnios, Nephrocalcinosis, Abnormality ... |
ORPHA:79500 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Mirage Syndrome |
|
Petechiae, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis, Failure to thrive |
OMIM:619012 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Congenital Factor Ii Deficiency |
|
Anemia |
ORPHA:325 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Elevated circulating C-reactive prote... |
ORPHA:50918 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Pancytopenia, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr... |
OMIM:601389 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Weight loss, Abnormality of t... |
ORPHA:33276 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re... |
OMIM:120330 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Erythema, Skin ... |
ORPHA:767 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Intrauterine growth retardation |
OMIM:618243 |
Familial Cold Urticaria |
|
Erythema, Dehydration |
ORPHA:47045 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Lactic acidosis, Decreased circulating ferritin concentration |
ORPHA:330054 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Pa... |
ORPHA:1655 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Weight lo... |
ORPHA:85408 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... |
OMIM:615190 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Increased ser... |
OMIM:619418 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Lactic acidosis, Increased hepat... |
OMIM:261680 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum lactate, Microvesicular hepatic stea... |
OMIM:618528 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... |
ORPHA:171 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Seve... |
OMIM:102700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegal... |
ORPHA:36412 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... |
OMIM:608233 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Short stature, Renal hypoplasia, Renal cyst, Neutropenia... |
OMIM:618460 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri... |
ORPHA:3208 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Abnormal circulating porphyrin concentration,... |
ORPHA:95159 |
Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Lactic acidosis, Intrauterine growth retardation, Failure to thrive |
OMIM:618238 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia |
ORPHA:139411 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Myasthenia Gravis |
|
Raynaud phenomenon, Hemolytic anemia, Pure red cell aplasia |
ORPHA:589 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Short stature, Elevated hemoglobin A1c |
OMIM:616113 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Increased serum lactate, Lactic acidosis, Left ventricular hypertrophy, Hyperalaninemia, Intraute... |
OMIM:614654 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur... |
ORPHA:1933 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Pedal edema, Hyperhomocystinemia, Skin ulcer, Macular purpura, Ecchym... |
ORPHA:542643 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Increased serum lactate, Lactic acidosis, Hyperglycinemia, Hyperalaninemia |
OMIM:619059 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Netherton Syndrome |
|
Hypernatremic dehydration, Failure to thrive, Angioedema, Increased circulating IgE level, Hypere... |
OMIM:256500 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:617668 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He... |
ORPHA:829 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Lactic acidosis, Failure to thrive |
OMIM:618229 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Polyuria, Facial wrinkling, Dry skin, Recurrent ... |
OMIM:606721 |
Paroxysmal Cold Hemoglobinuria |
|
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Edema, Polyhydramnios, Pericardial effusion, Car... |
ORPHA:51608 |
Zttk Syndrome |
|
Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth ... |
OMIM:617140 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenome... |
OMIM:235255 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesi... |
OMIM:618329 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp... |
ORPHA:465508 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Cholangitis, Increased serum lactate, Microves... |
OMIM:124000 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr... |
OMIM:614376 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Pyomyositis |
|
Leukocytosis, Renal insufficiency, Weight loss |
ORPHA:764 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Increased serum lactate, Horseshoe kidney |
OMIM:617664 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Anemia |
OMIM:613951 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia |
OMIM:244460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Growth delay, Failure to thrive, Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... |
OMIM:605309 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Chronic pancr... |
OMIM:307030 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ... |
OMIM:618213 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy |
ORPHA:52417 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath... |
ORPHA:379 |
Biotinidase Deficiency |
|
Hepatomegaly, Metabolic ketoacidosis, Splenomegaly, Hyperammonemia, Organic aciduria |
OMIM:253260 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph... |
OMIM:301074 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Disproportionate short-trunk short stature, Iron deficiency anemia, Short stature, Increased urin... |
ORPHA:93315 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Failure to thrive, Metabolic acidosis |
ORPHA:88639 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c... |
ORPHA:97289 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Erythrokeratodermia Variabilis |
|
Erythema, Dry skin, Short stature, Weight loss |
ORPHA:317 |
3-Hydroxyisobutyric Aciduria |
|
Lactic acidosis, Intrauterine growth retardation |
ORPHA:939 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Failure to thrive, Cachexia, Dry skin, Hy... |
OMIM:610965 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
X-Linked Hypophosphatemia |
|
Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha... |
ORPHA:89936 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... |
ORPHA:525731 |
12Q14 Microdeletion Syndrome |
|
Short stature, Ectopic kidney, Abnormality of the spleen, Renal hypoplasia, Horseshoe kidney, Int... |
ORPHA:94063 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal spleen morpholog... |
ORPHA:2470 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria, Polyhydramnios |
ORPHA:2774 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Proteinuria, Short stature, Elevated circulating C-reactive protein c... |
ORPHA:355 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Delayed puberty, Slender bui... |
ORPHA:1328 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, El... |
OMIM:242840 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Short stature, Cutis laxa, Nephrocalcinosis, Decreased body weight, Micropenis, Oligohydramnios |
OMIM:617402 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Amish Lethal Microcephaly |
|
Metabolic acidosis, Hepatomegaly, Organic aciduria |
ORPHA:99742 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein Ib-IX-V, Giant ... |
ORPHA:274 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... |
ORPHA:167 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Thrombocytopenia |
ORPHA:572798 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria,... |
OMIM:230000 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H... |
OMIM:614388 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612301 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Pollakisu... |
ORPHA:647 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Short stature, Small for gestational age, Dilatation of the renal pe... |
ORPHA:2044 |
Trisomy 8P |
|
Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbladder, Mic... |
ORPHA:264450 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy, Hep... |
ORPHA:333 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Abnorm... |
OMIM:230500 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... |
OMIM:130650 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Increased serum lactate, Lactic acidosis, Growth delay, Failure to thrive |
OMIM:619272 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ... |
ORPHA:361 |
Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618236 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia |
ORPHA:31205 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Lactic acidosis, Proximal tubulopathy, Intrauterine growt... |
ORPHA:2609 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia, Failure to t... |
ORPHA:2131 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Edema, Splenomegaly, Erythema, Weight loss |
ORPHA:33577 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Nephroblastoma |
|
Weight loss, Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma |
ORPHA:654 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Lacticaciduria, Lactic acidosis, Neonatal death, Left ventricular hypert... |
OMIM:619167 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Thrombocytopen... |
ORPHA:1775 |
Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Renal hypoplasia, Polysplenia |
OMIM:617784 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Splenomegaly, Pericardial effusion... |
ORPHA:2136 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Short stature, Renal p... |
ORPHA:289176 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati... |
OMIM:608779 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Impaired T cell function, Perianal erythema, Splenomegaly, Dry skin,... |
OMIM:201100 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Severe lactic acidosis, Decreased circulating carnitine c... |
ORPHA:254864 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Pancreatitis |
OMIM:618230 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Pneumocystosis |
|
Pleural effusion, Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis |
OMIM:602152 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Spleno... |
ORPHA:30391 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Hepatic steatosis |
OMIM:615119 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Dermal translucency |
OMIM:612199 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Methanol Poisoning |
|
Metabolic acidosis, Hyperlipidemia |
ORPHA:31825 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis |
OMIM:608782 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Bone marrow hypocellularity, Intrauter... |
OMIM:614083 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Redundant neck skin, Thrombocytopenia, Hepatomegaly |
OMIM:301056 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Splenomegaly, Erythema, Xerostomia, Stage 5 chronic kidney disea... |
ORPHA:90340 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss, Growth delay, Iron deficiency anemia, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Hypospadias, Increased serum lactate, Methylmalonic aciduri... |
ORPHA:17 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate e... |
OMIM:607015 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Dry skin, Anemia |
ORPHA:261323 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Failure to thrive, Mucopolysacchariduria, Disproportionate short-trunk short stature |
ORPHA:583 |
Lymphatic Malformation 7 |
|
Anemia |
OMIM:617300 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th... |
ORPHA:2126 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor |
OMIM:308300 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Raine Syndrome |
|
Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia |
ORPHA:2038 |
Odontochondrodysplasia 1 |
|
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Juvenile Polyposis Syndrome |
|
Anemia |
OMIM:174900 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
ORPHA:480864 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Short stature, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Microcephaly, Amish Type |
|
Lactic acidosis, Hepatomegaly, Failure to thrive |
OMIM:607196 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia |
ORPHA:529799 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat... |
OMIM:252011 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia, Abnormality of the kidney |
ORPHA:261584 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Peritonitis, Erythema, Oliguria, Skin ulcer, Hematuria, Panc... |
ORPHA:727 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Lactic acidosis |
ORPHA:1369 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Short stature, Heparan sulfate excretion in urine, Splenomega... |
OMIM:309900 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Cardiogenic Shock |
|
Increased serum lactate, Elevated circulating creatinine concentration, Oliguria, Metabolic acidosis |
ORPHA:97292 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia |
ORPHA:974 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Lactic acidosis, Left ventricular hypertrophy |
OMIM:540000 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis |
OMIM:179830 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Leigh Syndrome |
|
Lactic acidosis, Failure to thrive, Increased serum lactate, Hepatocellular necrosis |
OMIM:256000 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Abnormal renal morphology, Vesicouretera... |
OMIM:122470 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Renpenning Syndrome |
|
Growth delay, Severe short stature, Hypospadias, Cachexia |
ORPHA:3242 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac... |
OMIM:618252 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
Overlap Myositis |
|
Leukopenia, Thrombocytopenia |
ORPHA:206572 |
Pyridoxine-Dependent Epilepsy |
|
Lactic acidosis |
ORPHA:3006 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate,... |
OMIM:604377 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
3-Methylglutaconic Aciduria, Type Viii |
|
Increased serum lactate, Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic ac... |
OMIM:617248 |
Yao Syndrome |
|
Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Acute Liver Failure |
|
Acidosis, Jaundice, Cerebral edema, Hyperammonemia, Alkalosis, Hepatocellular necrosis, Hepatic n... |
ORPHA:90062 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia |
ORPHA:79330 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis |
OMIM:619445 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Periorbital edema, Splenomegaly, Mucopolysacchariduria |
OMIM:272200 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Gm1 Gangliosidosis |
|
Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Failure to thrive |
ORPHA:354 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,... |
ORPHA:79078 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepa... |
OMIM:618641 |
Pleural Mesothelioma |
|
Hepatomegaly, Pleural effusion, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Mucopolysacchariduria, Short stature, Hepatomegaly |
ORPHA:585 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Lactic acidosis |
OMIM:618241 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Failure to thrive, Short stature, Hepatocellular carcinoma, Microvesicular hepatic ... |
OMIM:256810 |
Hypophosphatemic Bone Disease |
|
Short stature, Hypophosphatemia |
OMIM:146350 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss, Neutropenia |
ORPHA:79430 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:616501 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Small for gestational age |
OMIM:609152 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Gastrointestinal Stromal Tumor |
|
Anemia |
ORPHA:44890 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Pallor, Short stature, Elevated circulating creatine kinase concentration |
OMIM:617675 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Dry skin |
OMIM:610768 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Mucopolysacchariduria, Ascites |
ORPHA:584 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly |
OMIM:619005 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Overweight, Metabolic acidosis, Renal tubular acidosis, Failure to thrive |
OMIM:619575 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ... |
ORPHA:2072 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein... |
OMIM:612852 |
Polymyositis |
|
Hepatomegaly, Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tub... |
ORPHA:732 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Childhood Absence Epilepsy |
|
Pallor, Urinary incontinence |
ORPHA:64280 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Xerostomia, Oliguria, Skin ulcer |
ORPHA:220393 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Giant Cell Arteritis |
|
Renal insufficiency, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Hematuria |
ORPHA:397 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Short stature, Impaired T cell function, Unilateral renal a... |
OMIM:188400 |
Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst... |
OMIM:613161 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets |
OMIM:163200 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Skin ulcer, Hypotension, Arrh... |
ORPHA:707 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Lack of skin elasticity, Weight loss, Abnormal circulating lipid concentration, Hyperli... |
ORPHA:1979 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Lassa Fever |
|
Facial edema, Increased circulating IgM level, Jaundice, Oliguria |
ORPHA:99824 |
Esophageal Atresia |
|
Renal agenesis, Small for gestational age, Polyhydramnios, Failure to thrive in infancy, Growth d... |
ORPHA:1199 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lactic acidosis, Hepatomegaly, Hyperglycinemia |
OMIM:614299 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventri... |
OMIM:619503 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Multi... |
OMIM:601186 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Scheie Syndrome |
|
Splenomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:93474 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ne... |
OMIM:269700 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Cutis laxa, Cirrhosis, Nephronophthisi... |
OMIM:614099 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Metabolic alkalosis, Hypokalemia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231625 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Severe lact... |
OMIM:615418 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethra... |
OMIM:136140 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Rift Valley Fever |
|
Thrombocytopenia, Jaundice, Hepatitis, Anemia |
ORPHA:319251 |
Pachydermoperiostosis |
|
Hepatomegaly, Edema, Splenomegaly, Joint swelling, Anemia |
ORPHA:2796 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Phimosis, Urinary bladder inflammation, Erythema, Xerostomia, Skin ulcer, Weight lo... |
ORPHA:99921 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Primary Unilateral Adrenal Hyperplasia |
|
Metabolic alkalosis, Hypokalemia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231580 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:420741 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Adult Acute Respiratory Distress Syndrome |
|
Metabolic acidosis, Diabetic ketoacidosis, Pancreatitis, Pulmonary edema |
ORPHA:70578 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticoster... |
ORPHA:90795 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Lactic acidosis, Short stature |
ORPHA:1170 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios |
OMIM:267430 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia |
OMIM:301072 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Increased serum lactate, Chol... |
OMIM:614924 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Episodic metabolic acidosis, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy |
ORPHA:26790 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H... |
ORPHA:60025 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Hepatomegaly, Elevated circulating creatine kinase... |
OMIM:610505 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Intrauterine growth r... |
OMIM:619321 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Polyhydramnios, Rhizomelia, Spleno... |
OMIM:613610 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Dry skin, Growth delay, Intrauterine growth retardation, Failure to thrive |
ORPHA:217346 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Mcdonough Syndrome |
|
Short stature, Cachexia |
ORPHA:2471 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Silver-Russell Syndrome |
|
Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,... |
ORPHA:813 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Splenomegaly, Lymphadenopathy, Weight loss, Pleural effusion... |
ORPHA:117 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Thrombocytopenia |
ORPHA:235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Short stature, Glomerulonephritis, He... |
ORPHA:2968 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t... |
ORPHA:99889 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity |
ORPHA:1772 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Increased serum lactate, Microvesicular hepati... |
OMIM:220111 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Postnatal growth retardation, Dehydration, Intrauterine growth retard... |
ORPHA:96191 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Intrauterine growth retardation, Decreased body weight |
ORPHA:255138 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer, Weight loss |
OMIM:608710 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Increased serum lactate, Growth delay, Cerebral edema |
OMIM:614462 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... |
ORPHA:254892 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin... |
ORPHA:440437 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... |
ORPHA:77293 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Lactic acidosis |
OMIM:245348 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation |
ORPHA:251071 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Spl... |
OMIM:616843 |
Fibrous Dysplasia Of Bone |
|
Short stature, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Anemia, Absent gallbladder |
ORPHA:163979 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Mucolipidosis Type Ii |
|
Short stature, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Weight loss, Left ... |
ORPHA:576 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Exocrine pancreatic insufficiency, Thrombocytopenia, Hepatome... |
OMIM:619004 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Alg12-Cdg |
|
B lymphocytopenia, Redundant skin, Thrombocytopenia |
ORPHA:79324 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro... |
OMIM:218330 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated... |
OMIM:603041 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat... |
OMIM:602782 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small medu... |
OMIM:118450 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:349 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the liver, Ascites, Thrombocytopenia |
ORPHA:464321 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Polyhydramnios |
OMIM:618186 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Edema, Periorbital edema, Erythema, Skin ulcer, Weight loss, Dry ... |
ORPHA:221 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:305000 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia |
OMIM:175050 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Antenatal intrac... |
OMIM:608836 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Flynn-Aird Syndrome |
|
Skin ulcer, Cachexia |
ORPHA:2047 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis |
OMIM:610773 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Short stature, Redundant skin, Cachexia |
ORPHA:52503 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple... |
ORPHA:567983 |
Rheumatoid Arthritis |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia |
OMIM:147920 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss |
ORPHA:312 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lactic acidosis, Neonatal death |
OMIM:618232 |
Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachycardia, Dry skin |
OMIM:181270 |
Juvenile Dermatomyositis |
|
Calcinosis, Palpebral edema, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:93672 |
Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Peritonitis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, We... |
ORPHA:913 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici... |
OMIM:619351 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume |
ORPHA:487796 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Jacobsen Syndrome |
|
Annular pancreas, Thrombocytopenia |
OMIM:147791 |
Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Increased serum lactate, Cerebral edema |
OMIM:617186 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Obesity, Cachexia |
ORPHA:85293 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Schwartz-Jampel Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, Abno... |
ORPHA:800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Nephrolithiasis, Cirrhosis,... |
OMIM:608594 |
Trisomy 18 |
|
Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt... |
ORPHA:3380 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Short Syndrome |
|
Excessive wrinkled skin, Severe short stature, Weight loss |
ORPHA:3163 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia... |
OMIM:309801 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:37 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy |
ORPHA:142 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Atrial septal defect, Lef... |
OMIM:245600 |
Bullous Pemphigoid |
|
Erythema, Weight loss |
ORPHA:703 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Lymphadenopathy,... |
ORPHA:3385 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Proximal Spinal Muscular Atrophy |
|
Metabolic acidosis |
ORPHA:70 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... |
OMIM:252500 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss |
ORPHA:411602 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased serum lactate, Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad... |
OMIM:243800 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz... |
OMIM:175780 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
22Q11.2 Deletion Syndrome |
|
Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:567 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Dry skin, Hepatomegaly |
OMIM:612132 |
Jacobsen Syndrome |
|
Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Leptospirosis |
|
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Edema |
ORPHA:1054 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Bohring-Opitz Syndrome |
|
Severe failure to thrive, Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Horseshoe kidney |
OMIM:617088 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Acute monocytic leukemia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Decreased body weight... |
OMIM:602535 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:97287 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Polycythemia, Anemia |
OMIM:600376 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Enlarged polycyst... |
ORPHA:744 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Reactive Arthritis |
|
Joint swelling, Recurrent urinary tract infections, Weight loss |
ORPHA:29207 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Hepatocellular carcinoma |
ORPHA:144 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Dry skin |
OMIM:163950 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... |
OMIM:613254 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Cachexia, Lymphedema |
ORPHA:109 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hyperten... |
ORPHA:3472 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Short stature, Cachexia |
ORPHA:220295 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Polyhydramnios, Weight loss |
ORPHA:2020 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Nocardiosis |
|
Liver abscess, Lymphadenitis, Peritonitis, Weight loss, Pleural effusion |
ORPHA:31204 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed menarche, Lack of skin elasticity, Weight loss, Severe failure to thrive, Premature skin ... |
ORPHA:740 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
Marfan Syndrome |
|
Striae distensae, Slender build, Cachexia |
ORPHA:558 |
Stickler Syndrome |
|
Slender build, Short stature, Cachexia |
ORPHA:828 |
Norrie Disease |
|
Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |