Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Ptosis, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Erlenm... |
OMIM:610539 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... |
OMIM:603553 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5... |
OMIM:619468 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, M... |
OMIM:208920 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphad... |
OMIM:209950 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cog... |
ORPHA:172 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating... |
ORPHA:26793 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbu... |
OMIM:226300 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... |
ORPHA:309169 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa... |
OMIM:618805 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co... |
OMIM:613280 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of a... |
OMIM:615010 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... |
OMIM:615895 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Mental det... |
ORPHA:228346 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... |
OMIM:616719 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... |
OMIM:620010 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia |
OMIM:603278 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... |
ORPHA:36913 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, Hypoalbuminemia, B lymphocytopenia, Decrease... |
OMIM:241600 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive h... |
OMIM:269920 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei... |
ORPHA:2494 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hyperhomocystinemia, Hypertension... |
ORPHA:2169 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty... |
OMIM:615048 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep... |
OMIM:619013 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... |
OMIM:615924 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Hyperammonemia, Choreoathetosis, Anemia, Cardiomy... |
ORPHA:79312 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... |
ORPHA:94093 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating creatin... |
OMIM:212138 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Atrial septal defect, Splenomegaly, Congestive heart failu... |
OMIM:617303 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Mental deterioration, Gait ataxia, Normochromic anemia, Hypoalbum... |
OMIM:254900 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Aggressive behavior, Tremor, Jaundice, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia |
OMIM:608093 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia, P... |
OMIM:617575 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hemolytic anem... |
OMIM:619487 |
Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Hypertension, Irritability, Neoplasm of t... |
ORPHA:69077 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
ORPHA:158048 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... |
ORPHA:14 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Atrial septal defect, Neonatal insulin-depende... |
ORPHA:1667 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Congestive heart failure, Decreased plasma f... |
OMIM:619048 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal c... |
ORPHA:2315 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, H... |
ORPHA:292 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... |
OMIM:613839 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand p... |
OMIM:235255 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair, Triangular face |
ORPHA:1174 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... |
OMIM:616267 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Clonus, Splenomegaly, Leukocytosis, Fla... |
OMIM:259720 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia |
ORPHA:210110 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Hypertension, Polyuria |
OMIM:613677 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Spasticity, Bradycardia, Dyston... |
OMIM:614702 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... |
ORPHA:96180 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... |
ORPHA:811 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hem... |
ORPHA:2070 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Pancreatic lym... |
ORPHA:1655 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hypoalbuminemia, Limb dys... |
OMIM:277900 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extrapyramidal motor fun... |
OMIM:616299 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ... |
OMIM:608104 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... |
OMIM:604290 |
Alg6-Cdg |
|
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ... |
ORPHA:79320 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
ORPHA:540 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Choreoathetosis, Anemia, ... |
ORPHA:289916 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Mitral valve ... |
OMIM:612561 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Leukopenia... |
ORPHA:27 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, H... |
OMIM:259700 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Diarrhea 13 |
|
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Myopathy With Extrapyramidal Signs |
|
Elevated circulating creatine kinase concentration, Clonus, Tremor, Chorea, Choreoathetosis, Extr... |
OMIM:615673 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... |
ORPHA:848 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Abnormal... |
ORPHA:2260 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Babinski sign, Cholestasis,... |
ORPHA:746 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypert... |
OMIM:618235 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... |
OMIM:251880 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensi... |
ORPHA:391673 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Ataxia, Tremor, Almond-shaped palpebral fissure, Pericardial effusion... |
OMIM:212065 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Abnormal facial shape, Inte... |
OMIM:616006 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru... |
ORPHA:3111 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability,... |
OMIM:261630 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:91547 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Coarse facial features, Round face, Highly arched eyebrow, Synophrys, Flat face, Thick eyebrow |
OMIM:615979 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Genu valgum, Hypocalcemia, Abnormal metacarpal morphology, Abnorma... |
ORPHA:53 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... |
ORPHA:529799 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, In... |
ORPHA:90041 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Confusion, Abscess, Myoca... |
ORPHA:36234 |
Galloway-Mowat Syndrome 6 |
|
Epicanthus, Hypoalbuminemia, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Paro... |
OMIM:618347 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... |
OMIM:619046 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Hypoalbuminemia, Conjunctivitis, Atrial septal defect, Patent foramen ovale, Tricuspi... |
ORPHA:505248 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Bradycardia, Dystonia, Left ventricular hypertrophy, Hyperalaninemia |
OMIM:614654 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu... |
OMIM:300946 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Hepatomegaly, Anemia of inadequate production, Ani... |
OMIM:224120 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... |
ORPHA:99826 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Ataxia, Rigidity, Metaphyseal widening, Mental deterioration, Diaphyseal sclerosis, S... |
OMIM:618476 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Tapered finger, Long fingers, Atrioventricular block, ... |
OMIM:614407 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Ataxia, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia,... |
OMIM:175500 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul... |
ORPHA:363400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Irritability, Neutropenia,... |
OMIM:229050 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type I ... |
OMIM:212750 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, ... |
ORPHA:3299 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... |
ORPHA:90117 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Irritability, Cirrhosis, Hypercholesterolemia, Thrombocytopenia, Limb... |
ORPHA:263501 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Lower limb spasticity, Sparse eyelashes, Hypoglycemia, Aggressive behavior, Bleph... |
OMIM:619075 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Ankle clonus, Gait disturbance, Hyperbilirubinemia, Abnormal repetitive ma... |
OMIM:301094 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio... |
OMIM:231000 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ... |
OMIM:611881 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Parkinsonism, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycar... |
OMIM:609286 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Flat face |
ORPHA:156728 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Impulsivity, Aggressive behavior, Metatarsus adductus, Self-biting, Depression, Upper ... |
ORPHA:293939 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Hyperactivity, Aplastic anemia, Epic... |
OMIM:617052 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestive heart failur... |
OMIM:613313 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Abnormal facial shape, Ataxia, Flat face |
OMIM:266510 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased s... |
ORPHA:54057 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hydrops fetalis, Athetosis, Abnormal... |
ORPHA:834 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Coarse facial features, Ataxia, Periorbital edema, Splenomegaly, Spasticity, Flat face |
OMIM:272200 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Coarse facial features, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokine... |
OMIM:610185 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Av... |
OMIM:222470 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Achondrogenesis, Type Ib |
|
Flat face, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
Hypophosphatasia |
|
Bowing of the long bones, Hypercalcemia, Irritability, Abnormal metaphysis morphology, Anemia |
ORPHA:436 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... |
OMIM:613327 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Confusion, Myocardial infarction, Clinodactyly of the 5th toe, An... |
ORPHA:108 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Diaphyse... |
OMIM:614727 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... |
ORPHA:100924 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad dista... |
ORPHA:79443 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma... |
ORPHA:79262 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Hypocalcemia, Polyphagia, Neonatal hypoglycemia, Ptosis |
OMIM:606407 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaph... |
ORPHA:94089 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Round face, Flat face |
ORPHA:2536 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium w... |
OMIM:612780 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Finger s... |
ORPHA:71289 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Pain insensitivity, Widow's peak, Fine hair, Gait disturbance, Horizontal eyebrow, Flat face |
OMIM:615828 |
Sialidosis Type 2 |
|
Hepatomegaly, Coarse facial features, Ataxia, Tremor, Splenomegaly, Hydrops fetalis, Pedal edema,... |
ORPHA:87876 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased circulatin... |
ORPHA:89842 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Diff... |
OMIM:159950 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Tremor, Hereditary Essential, 1 |
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Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Megaloblastic Anemia, Folate-Responsive |
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Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolonged neonatal jaundice, Letha... |
ORPHA:95717 |
Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating gluta... |
ORPHA:101028 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Flat face |
OMIM:614859 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Hypermanganesemia With Dystonia 2 |
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Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... |
OMIM:617013 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Migraine, Familial Hemiplegic, 1 |
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Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Attention deficit ... |
OMIM:617182 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to... |
OMIM:608885 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Flat face |
OMIM:618154 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Emery-Nelson Syndrome |
|
Flat face, Low posterior hairline |
ORPHA:1927 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Diabetes mellitus, Elevated circulating creatine kin... |
ORPHA:206572 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Hypocalcemia, Short palm, Anemia |
OMIM:244460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Irritability, F... |
OMIM:264700 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Highly arched eyebrow, Dilated cardiomyop... |
ORPHA:261250 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia |
ORPHA:75563 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abn... |
ORPHA:3124 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Spasticity, Thrombocytopenia, Dystonia |
OMIM:610329 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Myocardi... |
ORPHA:319213 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Narrow palpebral fissu... |
OMIM:616269 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyp... |
ORPHA:466650 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus,... |
ORPHA:521406 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ptosis, Ataxia, Elevated circulating creatine kinase concentration, Depression, Bradykinesia, Car... |
ORPHA:254886 |
Pseudohypoparathyroidism Type 1C |
|
Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the ... |
ORPHA:79444 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Anemia... |
OMIM:606054 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Thoracomelic Dysplasia |
|
Round face, Gait disturbance, Flat face, Low posterior hairline |
ORPHA:1803 |
Gitelman Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Atrial septal defect, Vent... |
ORPHA:163979 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Squalene Synthase Deficiency |
|
Epicanthus, Bicuspid aortic valve, Increased circulating farnesol concentration, Decreased LDL ch... |
OMIM:618156 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Epicanthus, Hypercalcemia, Splenomegaly, Lacunar stroke, Hypocalcemia, Short femora... |
OMIM:618440 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Al-Raqad Syndrome |
|
Inability to walk, Flat face, Gait ataxia |
OMIM:616459 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemi... |
ORPHA:94090 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertroph... |
OMIM:616276 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Coarse facial features, Ataxia, Splenomegaly, Spastic tetraplegia, Gait disturbance... |
OMIM:230600 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatospleno... |
ORPHA:367 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myocl... |
ORPHA:2590 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... |
OMIM:159550 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... |
OMIM:615362 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypovole... |
ORPHA:173 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Patent foramen ovale, H... |
OMIM:610883 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, L... |
ORPHA:90051 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... |
OMIM:300438 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... |
OMIM:618224 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Flat face, Spasticity |
OMIM:215100 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Par... |
ORPHA:49827 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... |
ORPHA:381 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, N... |
ORPHA:175 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... |
ORPHA:247353 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati... |
OMIM:602390 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Lower limb spasticity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves... |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... |
ORPHA:254881 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hypertro... |
OMIM:620270 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Partington Syndrome |
|
Limb dystonia, Lower limb spasticity, Triangular face, Focal dystonia |
OMIM:309510 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... |
ORPHA:31826 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm... |
OMIM:614307 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... |
ORPHA:3008 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Flat face |
OMIM:614872 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Alg12-Cdg |
|
Hyponatremia, Epicanthus, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ventric... |
ORPHA:79324 |
Mevalonic Aciduria |
|
Splenomegaly, Ataxia, Triangular face |
ORPHA:29 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... |
ORPHA:67 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Depression, Fatigable weakness, Hyperphosphatemia, Hypo... |
ORPHA:428 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolonged neonatal jaundice, Letha... |
ORPHA:95716 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Clumsiness |
ORPHA:158 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Progressive psychomotor deteriorati... |
ORPHA:796 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgenesis |
OMIM:267430 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se... |
ORPHA:124 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypopla... |
OMIM:612541 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... |
ORPHA:275555 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Hypercalcemia, Tapered finger, Tremor, Unilateral radial aplasia, Partial absence of ... |
ORPHA:476126 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume,... |
OMIM:127550 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Graft Versus Host Disease |
|
Tachycardia, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Irritability, Chronic hepatitis, Hemo... |
ORPHA:39812 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Hypertension, Hypokalemia, Hypocalcemi... |
OMIM:617913 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Hyperammonemia, Keratoconjunctivitis, Irritability, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bilateral ptosis, Synophrys, Bradycardia, Congenital fing... |
OMIM:620351 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Hypoglycemia, Insulin resistance, Congenital bilateral ptosi... |
ORPHA:73272 |
Achondrogenesis |
|
Flat face, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... |
OMIM:617710 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia... |
OMIM:557000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Femoral bowing, Tibial bowing, Fibular bowing, Hypocalcemia, Difficulty walki... |
OMIM:600081 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia... |
OMIM:261640 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesicular hepatic steatosi... |
OMIM:608836 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr... |
OMIM:233910 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Depression, Clumsiness, Bradycardia, Attention ... |
ORPHA:90674 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Flat face |
OMIM:616994 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Epicanthus, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of t... |
ORPHA:557003 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the r... |
OMIM:607143 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Abnormal... |
ORPHA:208441 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... |
OMIM:617916 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Tremor, Flat face, Abnormality of the hairline |
ORPHA:370079 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Dystonia, Flat face, Hepatomegaly |
OMIM:607906 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Mucopolysaccharidosis Type 7 |
|
Coarse facial features, Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites, Flat face |
ORPHA:584 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Progressive neurologic deterioration, Tremor, Hypertension, Hyp... |
ORPHA:1192 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Cardi... |
ORPHA:401768 |
D-Glyceric Aciduria |
|
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Br... |
OMIM:220120 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... |
ORPHA:79303 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Narrow palpe... |
ORPHA:3426 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Round face, Flat face |
OMIM:132450 |
Partington Syndrome |
|
Lower limb spasticity, Gait disturbance, Limb dystonia, Macroorchidism, Triangular face |
ORPHA:94083 |
Ring Chromosome 10 Syndrome |
|
Downslanted palpebral fissures, Sandal gap, Hypocalcemia, Tapered finger |
ORPHA:1438 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Round face, Ataxia |
OMIM:618951 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, ... |
ORPHA:449285 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Edema, Tremor, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal fa... |
ORPHA:3162 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Distal Monosomy 7Q36 |
|
Large face, Cryptorchidism, Hypertonia, Flat face |
ORPHA:1636 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Blepharocheilodontic Syndrome 2 |
|
Distichiasis, Flat face, Facial asymmetry |
OMIM:617681 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Abnormal eyelid morphology, Microvesicula... |
OMIM:300855 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Abnormal eyelid morphology, Tremor, Splenomegal... |
ORPHA:525731 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... |
ORPHA:223 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Anorexia, Intracran... |
OMIM:241500 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Tibial bowing, Femoral bowing... |
ORPHA:289157 |
Achondrogenesis Type 1B |
|
Flat face, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Clonus, Synophrys, Hypertonia, Tics, Compulsive behaviors, Abnormal repeti... |
OMIM:619475 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia |
ORPHA:2398 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypogly... |
OMIM:602579 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defect, Situs inversus totali... |
OMIM:249270 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, S... |
OMIM:608799 |
Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Incoordination, Postural tremor, Ataxia, Hypoglycemia, Abnormal ery... |
ORPHA:79239 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:610377 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Progressive neurologic deterioration, Spasticity, Bile duct proliferation, Hypoalbu... |
OMIM:618329 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Achondrogenesis Type 1A |
|
Flat face, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Flat face, Clumsiness |
OMIM:300558 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Tremor, Splenomegaly... |
ORPHA:667 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co... |
ORPHA:210136 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukop... |
OMIM:251000 |
Neuraminidase Deficiency |
|
Hepatomegaly, Coarse facial features, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenom... |
OMIM:256550 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Erythroid hyperplasia, Lethargy, Hemolytic... |
ORPHA:447 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypoca... |
OMIM:612462 |
Tularemia |
|
Brain abscess, Tachycardia, Confusion, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ... |
ORPHA:3392 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o... |
OMIM:222300 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Hypertension, Palpitations, Polydipsia |
ORPHA:231580 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Hypertension, Respirato... |
OMIM:121300 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... |
ORPHA:53035 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... |
OMIM:232700 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Irritability, Hyperuricemia, Fasting hypoglycemia, Hyper... |
ORPHA:348 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplas... |
OMIM:105650 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cognitive impairment, Ascites, Thr... |
ORPHA:858 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Abnorma... |
OMIM:613489 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Lethargy, El... |
OMIM:614857 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Progressive psychomotor deterioration, Hypertension, Myoclonus, Increased blood ur... |
ORPHA:251004 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Flat face, Highly arched eyebrow |
OMIM:618522 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Diabetes mellitus, Rigidity, Opisthotonus, Depression,... |
OMIM:184850 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Increas... |
OMIM:612562 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ... |
OMIM:617093 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Tip-toe ... |
ORPHA:565624 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... |
ORPHA:79445 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S... |
OMIM:238970 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... |
ORPHA:171 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ... |
ORPHA:99901 |
Lathosterolosis |
|
Epicanthus, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis,... |
OMIM:607330 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Hypocalcemia, Hypoplastic spleen, Ascites, Brachydactyly |
OMIM:602361 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Flat face, Limb dystonia |
OMIM:620269 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Opisthotonus, Irritability, Increased serum bile acid concentration, Hy... |
OMIM:619685 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ... |
ORPHA:71 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Flat face |
OMIM:616910 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Abnormal heart morphology, Hematochezia, Melena, ... |
ORPHA:79076 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Micromelia, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Hypertonia, Attention deficit hyperactivity disord... |
OMIM:620184 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Decreased circulatin... |
ORPHA:199299 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow face, Flat face |
ORPHA:1529 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c... |
OMIM:613179 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ataxia, Hypoglycemia, Dystonia, Lethargy, Hypertrophic ca... |
OMIM:246900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... |
OMIM:618886 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia |
OMIM:610333 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Spastic paraplegia... |
ORPHA:168577 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... |
OMIM:613845 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation, Abnormal faci... |
ORPHA:544254 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Epicanthus, Incoordination, Dextrocardia, Meg... |
OMIM:277380 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemi... |
ORPHA:276608 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... |
ORPHA:2137 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... |
OMIM:128235 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... |
OMIM:617302 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Grant Syndrome |
|
Large face, Flat face, Facial asymmetry |
ORPHA:2097 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Megacystis, Polyuria |
OMIM:125800 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria |
OMIM:304800 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Progressive neurologic deterioration, Tremor, Abnormal circulating fat... |
ORPHA:263455 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis mo... |
ORPHA:93160 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Tremor, Jaundice, S... |
OMIM:274150 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:94080 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... |
ORPHA:103910 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, Increased serum bile ac... |
ORPHA:69665 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... |
OMIM:618913 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Microves... |
OMIM:617156 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... |
ORPHA:329478 |
Orofaciodigital Syndrome Xv |
|
Flat face |
OMIM:617127 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa... |
OMIM:614298 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Spasti... |
ORPHA:33445 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Anorexia |
ORPHA:178029 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Intraventricular hemorr... |
OMIM:619055 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Diabetes mellitu... |
ORPHA:465508 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Broad eyebrow, Highly arched eyebrow, Inability to walk, Self-injurious behavior, High noncerulop... |
ORPHA:457351 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... |
ORPHA:2785 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Pulmonary edema, Myocarditis, Oliguria, Pleural effusion, Hypo... |
ORPHA:188 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Hemifacial atrophy, Difficulty walking, Dystonia |
ORPHA:306669 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Ptosis |
OMIM:619473 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Jaundice, Hepatitis, Depression,... |
ORPHA:905 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... |
ORPHA:2388 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Hyperactivity, Pericardial lymphangiectasia, Epicanthus, Ventricular septal defect, T... |
OMIM:235510 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo... |
ORPHA:464321 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatic melanin-l... |
OMIM:208085 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Dislocation of toes, Ventricular hypertrophy, Elevated circulating ... |
OMIM:300280 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Flat face, Anemia |
ORPHA:1842 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Juvenile Polyposis Syndrome |
|
Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Atrial septal defect, Lethargy, Intrahepatic biliary dysgenesis, H... |
OMIM:614866 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Progressive neurologic deterioration, Neutropenia, Hyperammonemia, Irritability, Dy... |
OMIM:618253 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Ascites, Flat face |
OMIM:616897 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated cardiomyop... |
OMIM:610768 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Confusion, Paralysis, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachno... |
ORPHA:567 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Blepharocheilodontic Syndrome 1 |
|
Sparse hair, High anterior hairline, Distichiasis, Flat face |
OMIM:119580 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Narrow face, Highly arched eyebrow, Synophrys, Flat face, Long face |
ORPHA:1327 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... |
OMIM:619386 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Sparse eyebrow, Spasticity, Hypocholesterolemia, Hypertrophic cardiomyopathy |
OMIM:618810 |
Gilbert Syndrome |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Coarse facial features, Abnormality of the tonsils, Splenomegaly, Abnormal pyramida... |
ORPHA:93476 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Flat face, Sparse body hair |
ORPHA:177 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o... |
ORPHA:400 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy, Ascites,... |
OMIM:617397 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomeg... |
ORPHA:42 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Congestive heart failure, Increased ... |
OMIM:235200 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, Abnormal repetitive mannerisms, Nail-biting, Hair-pulling, Long palpebral fissure, ... |
OMIM:620330 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/hypoplasia involving b... |
ORPHA:40366 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Polydipsia, Meta... |
OMIM:239200 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:607426 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Flat face |
ORPHA:921 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... |
ORPHA:79095 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Blepharitis, Decreased LDL cholesterol concentration, Hy... |
OMIM:616834 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal femur morphology, Abnormal fibula morphology, Tibial bo... |
ORPHA:352540 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Dystonia, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Talipes equinovarus, Camptoda... |
OMIM:251300 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Upslanted palpe... |
ORPHA:2306 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Spasticity, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inability to wal... |
OMIM:257200 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atresia, Jaundice, Acholic stools, P... |
OMIM:210500 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Conjunctival hyperemia... |
ORPHA:509 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal circulating... |
ORPHA:470 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Hepatomegaly, Ataxia, Myocardial infarct... |
ORPHA:3452 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Diabetes mellitus, Decreased serum iron, Blepharophimosis, Repetitive compu... |
ORPHA:391372 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Brain abscess, Myocarditi... |
ORPHA:544482 |
Dahlberg-Borer-Newcomer Syndrome |
|
Telecanthus, Mitral valve prolapse, Hypocalcemia, Short distal phalanx of finger, Brachydactyly |
ORPHA:1563 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary fi... |
ORPHA:220393 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synop... |
OMIM:619293 |
Thanatophoric Dysplasia |
|
Increased nuchal translucency, Flat face, Polyhydramnios |
ORPHA:2655 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, S... |
ORPHA:95409 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Spasticity, Dystonia |
ORPHA:77260 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Spastic di... |
ORPHA:290 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Type II diabetes... |
ORPHA:100 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Attention d... |
OMIM:619151 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unco... |
OMIM:613658 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mitral reg... |
OMIM:301080 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinem... |
OMIM:251100 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Epicanthus, Ventricular septal defect, Elevated circulating creatine ... |
OMIM:614576 |
Thanatophoric Dysplasia Type 2 |
|
Increased nuchal translucency, Flat face, Polyhydramnios |
ORPHA:93274 |
Autosomal Recessive Stickler Syndrome |
|
Flat face |
ORPHA:250984 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Cirrhosis |
ORPHA:79302 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Stickler Syndrome, Type Iv |
|
Flat face |
OMIM:614134 |
Dubowitz Syndrome |
|
Syndactyly, Hyperactivity, Epicanthus, Aplastic anemia, Telecanthus, Short attention span, Blepha... |
OMIM:223370 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine kinase con... |
OMIM:185070 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypertonia, Hypoalbuminemi... |
OMIM:270400 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Triangular face, Gait ataxia |
OMIM:617120 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic dipleg... |
ORPHA:391428 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Flat face, Long face |
OMIM:613604 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Irritability, Portal fibrosis, Hepatic fibrosis, Cirr... |
ORPHA:369 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Kyphomelic Dysplasia |
|
Flat face |
ORPHA:1801 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Conges... |
OMIM:212140 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Anorexia, ... |
ORPHA:297 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Chromosome 5Q12 Deletion Syndrome |
|
Increased nuchal translucency, Flat face, Coarse facial features |
OMIM:615668 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Broad-based gait, Thick hair, Highly ar... |
OMIM:605130 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Tremor, Inability to walk, Tongue thrusting, Small h... |
ORPHA:3095 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... |
ORPHA:2394 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Atrial septal defect, Patent foramen ovale, Syndactyly, Hepatomeg... |
OMIM:613610 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
Maxillonasal Dysplasia |
|
Flat face |
ORPHA:1248 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Microvesicu... |
ORPHA:66634 |
Cebalid Syndrome |
|
Thick eyebrow, Flat face, Highly arched eyebrow |
OMIM:618774 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... |
ORPHA:824 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Intellectual Disability And Myopathy Syndrome |
|
Flat face |
OMIM:619719 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis, Edema |
OMIM:105200 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia, Pol... |
OMIM:609734 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Fetal ascites, Synophrys, Hypocalcemia, Low frustration ... |
OMIM:619503 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Flat face |
ORPHA:2994 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Anemia, Talipes equinovarus, Camptodactyly, Ascites, Thrombocytopenia, Brac... |
ORPHA:79325 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Ulnar deviation of th... |
OMIM:194350 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures |
OMIM:241410 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Dystonia, Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyn... |
OMIM:616878 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia |
ORPHA:621 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Brain ab... |
ORPHA:2929 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Hyperhomocyst... |
OMIM:277400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Mental deterioration, Pulmonary arterial hypertension, Hype... |
OMIM:212350 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr... |
ORPHA:99829 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... |
OMIM:201100 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Normoc... |
ORPHA:91355 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Small hand, Bruxism, Dysphagia, Abnormal pyramidal sign, Short foot, Brady... |
OMIM:617435 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Congestive heart failure, Dysphagia, Camptodactyly, Pulmonary arterial ... |
OMIM:619751 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Peric... |
OMIM:615846 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Abnormal facial shape, Flat face |
ORPHA:464288 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... |
OMIM:616795 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelli... |
ORPHA:96123 |
Hennekam Syndrome |
|
Finger syndactyly, Epicanthus, Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulmo... |
ORPHA:2136 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Hyperkalemia, Paraplegia, Anemi... |
OMIM:617053 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Speech apraxia, Hypoglycemia, Hyperinsulinemia, Hepatosp... |
ORPHA:79237 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le... |
ORPHA:79282 |
Metaphyseal Acroscyphodysplasia |
|
Flat face |
ORPHA:1240 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Tremor, Cryptorchidism, Intention tremor, Flat face, Oligohydramnios |
OMIM:614052 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hypercalcemia |
OMIM:211000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty acid ... |
OMIM:614886 |
Richieri Costa-Da Silva Syndrome |
|
Falls, Inability to walk, Low anterior hairline, Flat face |
ORPHA:3101 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dys... |
ORPHA:391417 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... |
ORPHA:545 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hepatomegaly, Coarse facial features, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Bro... |
OMIM:616354 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Neutropenia, Opistho... |
OMIM:616271 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly |
OMIM:230350 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... |
ORPHA:101096 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Telecanthus, Ventricular septal defect, Rocker bottom foot, Elevated circulating cr... |
OMIM:301056 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... |
OMIM:312170 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia, Abnormality of the medullary... |
OMIM:127000 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Babinski sign, Clonus, Hyperbilirubinemia |
ORPHA:101009 |
Simosa Craniofacial Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Abnormal hair morphology, Flat face, Long face |
OMIM:182150 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Conju... |
OMIM:617591 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Limb hypertonia |
OMIM:614498 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Babinski sign, Upper limb spast... |
OMIM:609727 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Large face, Flat face |
ORPHA:2831 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Adducted thumb |
OMIM:601815 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Nonprogressive cerebellar ataxia, Thrombocytopenia, Myoclonus |
ORPHA:3327 |
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
Coarse facial features, Triangular face |
ORPHA:293707 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Synophrys, He... |
OMIM:606003 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Inability to walk, Vasculitis, Cardiomyopathy, Prolonged neonatal jau... |
OMIM:225750 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Calcinosis, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... |
ORPHA:1414 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... |
OMIM:619424 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Round face, Synophrys, Flat face, Thick eyebrow |
OMIM:602562 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm... |
ORPHA:542310 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, A... |
OMIM:619488 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad... |
ORPHA:90673 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Transient ischemic attack, Abnormal femoral head morphology, Thro... |
ORPHA:1830 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Decreased testicular size, Generalized hirsutism, Long eyelashes in irregular rows... |
OMIM:255800 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ... |
ORPHA:79477 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Spasticity, Cystoid macular edema |
OMIM:613861 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Epicanthus, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, Attention defici... |
ORPHA:79254 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Lymphopenia, Thrombo... |
OMIM:618624 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Elevated circulating creatine kinase concentration, Bilateral ptosis, Hypophosphatemi... |
OMIM:619743 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Arachnodactyly, Hypertension, Hypoalbuminemia, Camptodactyly, Spasticity, Downslanted... |
OMIM:617729 |
Alagille Syndrome |
|
Hepatomegaly, Round face, Coarse facial features, Cryptorchidism, Cholestasis, Reduced number of ... |
ORPHA:52 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary ci... |
ORPHA:186 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, S... |
ORPHA:85138 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... |
ORPHA:199343 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Aggressive behavior, Narrow palpebral fissure, Hypocalcemia, Blepharop... |
OMIM:192430 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... |
OMIM:183090 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Lymphedema, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapy... |
ORPHA:79279 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Apraxia, Abn... |
ORPHA:77293 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Jau... |
OMIM:613404 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platele... |
OMIM:603585 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
20Q11.2 Microduplication Syndrome |
|
Coarse facial features, Palpebral edema, Periorbital edema, Cryptorchidism, Flat face, Lingual dy... |
ORPHA:363659 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Elevated circulating creatine kinase... |
ORPHA:480864 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:95715 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Internal h... |
ORPHA:49566 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... |
OMIM:603909 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Glycosuria, Hypokalemia, ... |
OMIM:227810 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Round face, Flat face |
OMIM:617333 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Lower limb spasticity, Coarse facial features, Ataxia, Dysmetria, Hepatosplenomegal... |
ORPHA:93399 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy... |
ORPHA:163596 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Aicardi-Goutieres Syndrome 5 |
|
Irritability, Spasticity, Thrombocytopenia |
OMIM:612952 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Conjunctival icterus, Perimembranous ventricular septal defect, Hyperbi... |
OMIM:606812 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Limb ataxia, Pulm... |
OMIM:619051 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Ptosis |
OMIM:619790 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Palpebral edema, Elevated circulating C-reacti... |
ORPHA:50918 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Overlapping toe, Ventricular septal defect, Aggressive beh... |
ORPHA:163956 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Tremor, Hepatomegaly, Ataxia, Abnormal per... |
ORPHA:355 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Flat face |
OMIM:614078 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Poor gross mo... |
ORPHA:330015 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Splenomegaly, Ataxia |
OMIM:617767 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Progre... |
OMIM:268800 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Poor motor coordination, Parkinsonism, Depression, Clumsiness, Poor fine motor coord... |
ORPHA:79264 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysphagia, Dysme... |
ORPHA:572798 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam... |
OMIM:618120 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Spasticity, Hypertens... |
ORPHA:134 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Depression, Memory impairment, Hypertension, Hyperuricemia, Cognitive impairme... |
ORPHA:77296 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Hypersegmentation of neutro... |
OMIM:615578 |
Trisomy X |
|
Epicanthus, Tremor, Depression, Upslanted palpebral fissure, Attention deficit hyperactivity diso... |
ORPHA:3375 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice |
OMIM:619232 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal b... |
ORPHA:810 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Abnormal facial shape, Flat face, Thick hair, Highly arched eyebrow |
ORPHA:401923 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Hyp... |
ORPHA:85212 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, End... |
ORPHA:549 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:208900 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... |
OMIM:257220 |
Erdheim-Chester Disease |
|
Renal insufficiency, Polydipsia, Dysuria, Congestive heart failure, Abnormal pulmonary interstiti... |
ORPHA:35687 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... |
ORPHA:567983 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Clinodactyly of the 5th toe, A... |
ORPHA:229717 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Flat face |
ORPHA:1458 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Mental deterioration, Slurred spe... |
ORPHA:206443 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Syncope, Gait disturbance, Dementia, Cognitive impairment |
OMIM:603472 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... |
OMIM:241200 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Atrial septal defect, Ventricular septal defect, Blepharophimosis, Small hand... |
OMIM:300712 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Bruxism, S... |
OMIM:300055 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Developmental And Epileptic Encephalopathy 89 |
|
Highly arched eyebrow, Sparse eyebrow, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia... |
OMIM:619124 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Digeorge Syndrome |
|
Ventricular septal defect, Short palpebral fissure, Splenomegaly, Anemia, Hemiparesis, Abnormal t... |
OMIM:188400 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Waddling gait, Flat face |
OMIM:608728 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Abnormal synap... |
ORPHA:683 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Transient h... |
ORPHA:156 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hemiparesis, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... |
ORPHA:97280 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Pulmonary embolism, Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites |
ORPHA:567546 |
Down Syndrome |
|
Impaired pain sensation, Abnormality of the lymphatic system, Gait disturbance, Sparse hair, Flat... |
ORPHA:870 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
Monosomy 13Q34 |
|
Epicanthus, Epistaxis, Hypercalcemia, Postaxial hand polydactyly, Insulin resistance, Hematochezi... |
ORPHA:96168 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Lethargy, Confusion, Cran... |
OMIM:607483 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... |
OMIM:261740 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Triangular face, Facial asymmetry, Oligohydramnios |
ORPHA:231144 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Round face, Cryptorchidism, Unsteady gait, Prolong... |
OMIM:214100 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Periportal fibrosis, Hypoplastic nipples, Asci... |
OMIM:269860 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Sudd... |
ORPHA:537 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Zellweger Syndrome |
|
Hepatomegaly, Cryptorchidism, Jaundice, Hepatic failure, Flat face |
ORPHA:912 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Splenomegaly, Hepatos... |
OMIM:608013 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Xfe Progeroid Syndrome |
|
Hypertension, Poor coordination, Ascites, Hypoalbuminemia |
OMIM:610965 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Sanjad-Sakati Syndrome |
|
Short foot, Hyperphosphatemia, Small hand, Hypocalcemia |
ORPHA:2323 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... |
OMIM:614867 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating... |
OMIM:300972 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Myoclonus, Bradycardia, Opisthotonus |
OMIM:619814 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Irritability, Hypertonia, Lethargy, Thrombocytopenia |
OMIM:253270 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... |
OMIM:615688 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Retinal telangiectasia, Tremor, Metaphyseal sclerosis, Abnormal... |
OMIM:612199 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... |
OMIM:219800 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Clonus, Spastic tetraparesis, Babinski sign, Elevated amniotic fluid alpha-fetoprotein, Prolonged... |
ORPHA:423479 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Sparse hair, Flat face |
OMIM:302960 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Impulsivity, Akinesia, Tremor, Park... |
ORPHA:240071 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Tremor, Hepatomegaly, Triangular face, Highly arched eyebrow |
OMIM:618342 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Coarse facial features, Flat face |
ORPHA:93346 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Telecanthus, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:26791 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Abno... |
ORPHA:64744 |
Mucolipidosis Type Ii |
|
Dry hair, Coarse facial features, Splenomegaly, Inability to walk, White hair, Hepatosplenomegaly... |
ORPHA:576 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio... |
ORPHA:90060 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia |
OMIM:313200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Spontaneous... |
ORPHA:731 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... |
ORPHA:79240 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Irritability, Glu... |
OMIM:616539 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hypoalbuminemia |
OMIM:614441 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Blepharophimosis, Metat... |
OMIM:244450 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Dysphagia, Depression, Focal dystonia,... |
ORPHA:199351 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia |
OMIM:274240 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia, Hydrops fetalis |
OMIM:619433 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Coarse facial features, Flat face, Broad face |
ORPHA:439822 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:268 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phy... |
OMIM:266500 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Silver-Russell Syndrome 4 |
|
Triangular face |
OMIM:618907 |
Atelis Syndrome 2 |
|
Epicanthus, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh... |
OMIM:620185 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis |
ORPHA:254361 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Cognitive impairm... |
OMIM:103580 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:276621 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... |
OMIM:619574 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... |
ORPHA:97283 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Hepatomegaly, Broad distal phalanges of all ... |
OMIM:218330 |
Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Triangular face, Highly arched eyebrow |
OMIM:617532 |
Trisomy 12P |
|
Thick eyebrow, Flat face, Supernumerary nipple |
ORPHA:1699 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Flat face, Abnormality of hair texture |
OMIM:219200 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ... |
ORPHA:97282 |
Isolated Biliary Atresia |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundice, Cholest... |
ORPHA:30391 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Coarse facial features, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morpholo... |
ORPHA:2463 |
Pyruvate Dehydrogenase Deficiency |
|
Narrow face, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Abnormal f... |
ORPHA:765 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Spasticity, Hypertonia, Thrombocytopenia |
OMIM:616577 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Thanatophoric Dysplasia Type 1 |
|
Increased nuchal translucency, Flat face, Polyhydramnios |
ORPHA:1860 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Hepatocellular ... |
ORPHA:101330 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
Silver-Russell Syndrome 5 |
|
Triangular face |
OMIM:618908 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... |
OMIM:617744 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Flat face, Edema |
ORPHA:2347 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Flat face, Polyhydramnios, Oligohydramnios |
OMIM:193700 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Sandal gap, Anemia, Neutropenia, Thrombocytopenia, Brachydac... |
OMIM:617475 |
Encephalitis Lethargica |
|
Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy |
ORPHA:83600 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... |
OMIM:616435 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
Mirizzi Syndrome |
|
Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholel... |
ORPHA:521219 |
Immunodeficiency 46 |
|
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Hypertonia,... |
OMIM:619092 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Dysphagia, Hypertonia, Bradycardia, Neutropenia, Neonatal hyp... |
OMIM:617248 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Leukopeni... |
ORPHA:1304 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... |
OMIM:201475 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, Spastic pa... |
ORPHA:329284 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... |
OMIM:601678 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Hemiplegia, Me... |
OMIM:182410 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Flat face, Polyhydramnios |
OMIM:619859 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Flat face, Hydrops fetalis, Hirsutism |
ORPHA:1865 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Tachycardia, Ataxia, Aggressive behavior, Chorea, Dilated car... |
OMIM:618321 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Congestiv... |
ORPHA:79083 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Coarse facial features, Ataxia, Edema, Dysmetria, Hepatosplenomegaly, Myoclonus, Ge... |
ORPHA:93400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Synophrys, Triangular face, Hirsutism |
OMIM:619264 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking, Emotional l... |
ORPHA:3198 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Ataxia, Hepatosplenomegaly, Cardiomyopathy, Abnormal diaphysis morp... |
ORPHA:354 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Myoclonus, Elevated hepatic iron concentration, Increased h... |
OMIM:614946 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Tremor |
ORPHA:66633 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Tremor, Progressive neurologic deterioration, Chorea, Abno... |
ORPHA:646 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Hydrops fetalis, Ascites, Triangular face |
OMIM:253250 |
Braddock-Carey Syndrome 1 |
|
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Small hand, Spastic diplegia, Tali... |
OMIM:619980 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arteritis, Thrombocytop... |
OMIM:301054 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal... |
ORPHA:77259 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Flat face, Long face |
ORPHA:1968 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Irr... |
OMIM:277440 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Radio-Tartaglia Syndrome |
|
Tremor, Synophrys, Abnormal repetitive mannerisms, Ataxia, Highly arched eyebrow, Tapered finger,... |
OMIM:619312 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... |
ORPHA:466677 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficulty walking, Frequ... |
ORPHA:206594 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Highly arched eyebrow, Poliosis, Polyhydramnios, Synophrys, Low anterior ha... |
OMIM:213980 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Myoclonus, Spasticity, Anemia |
OMIM:246450 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Pneumonia, Pneumothorax, Acute infectious pneumonia, Pleural empyema, Pulmonary pneumatoce... |
ORPHA:36238 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Round face, Flat face, Sparse lateral eyebrow |
OMIM:619103 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... |
OMIM:277460 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... |
OMIM:613027 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Flat face |
OMIM:242860 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... |
OMIM:616505 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma... |
ORPHA:79273 |
Cystathioninuria |
|
Tremor, Talipes equinovarus, Cystathioninemia |
ORPHA:212 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
17P11.2 Microduplication Syndrome |
|
Speech apraxia, Poor fine motor coordination, Triangular face |
ORPHA:1713 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus |
OMIM:616113 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Ataxia, Proximal placement of thumb, Increased mean platelet volume, Tapered fin... |
OMIM:616737 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:606002 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Flat face |
OMIM:109120 |
Otospondylomegaepiphyseal Dysplasia |
|
Flat face, Polyhydramnios |
ORPHA:1427 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp... |
OMIM:618056 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Dysphagia, Tongue fasciculations, Bradycardia, Difficulty walking, Atrial sept... |
ORPHA:70 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Inability to walk, Babinski sign, Mental deterioration, Abnormal py... |
ORPHA:52368 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegi... |
OMIM:617864 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Round face, Ataxia, Portal hypertension, Abnormal ab... |
OMIM:216360 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Coarse facial features, Flat face, Polyhydramnios |
OMIM:151210 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Incoordination, Ataxia, Confusion, Hypoglycemia, Jaundice, Sl... |
ORPHA:90062 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Ataxia, Abnormal heart valve morphology, ... |
ORPHA:77261 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Leigh Syndrome |
|
Progressive neurologic deterioration, Chorea, Choreoathetosis, Neutropenia, Ataxia, Athetosis, An... |
ORPHA:506 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Flat face, Hypoplastic nipples |
OMIM:177980 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... |
OMIM:616738 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hypertonia, Extrapyramidal muscul... |
ORPHA:51 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Coarse facial features, Ataxia, Highly arched eyebrow, Spastic paraplegia, Clumsine... |
ORPHA:309282 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:29072 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Diffuse telangiectasia, Anemia, Prolonged neonatal jaundice, Thromboc... |
OMIM:170100 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... |
ORPHA:70588 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... |
OMIM:243500 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Synophrys, Flat face, Coarse facial features |
OMIM:610253 |
Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Ptosis |
OMIM:188025 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Coarse facial features, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Reduced number o... |
OMIM:614887 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Thick eyebrow, Thick hair, Highly arched eyebrow, Cryptorchidism, Syn... |
OMIM:610759 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Almond-shaped palpebral fissure, Short p... |
ORPHA:261323 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Highly arched... |
OMIM:619005 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Lissencephaly Due To Lis1 Mutation |
|
Progressive spastic quadriplegia, Neonatal hyperbilirubinemia, Tetraplegia, Opisthotonus |
ORPHA:95232 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Larsen-Like Syndrome |
|
Flat face |
OMIM:608545 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, An... |
ORPHA:520 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Irritability, Hypertonia, Sp... |
OMIM:616881 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, ... |
ORPHA:79139 |
Pfeiffer Syndrome |
|
Flat face, Facial asymmetry |
ORPHA:710 |
Acute Lung Injury |
|
Shock, Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Addict... |
ORPHA:178320 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Transient ischemic attack, Hypoplasia of the capital femoral epiphys... |
OMIM:242900 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Lymphedema, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Dystrophic t... |
ORPHA:2930 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Metaphyseal dysplasia, Hypercalcemia |
OMIM:614732 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, Hy... |
OMIM:229600 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... |
ORPHA:47612 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Nasolacrimal du... |
OMIM:604173 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, ... |
OMIM:105210 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Cerebral edema |
OMIM:602481 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Hallux valgus, Unilateral ptosis, Sandal gap, Tapered finger, Secundum atri... |
OMIM:620072 |
Asbestos Intoxication |
|
Right ventricular failure, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morph... |
ORPHA:2302 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Icf Syndrome |
|
Anemia, Lymphopenia, Flat face, Abnormality of neutrophils |
ORPHA:2268 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hemiplegia/hemiparesis, Abnormal metaphysis morphology, Hypercalcemia |
ORPHA:2591 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Triangular face, Abnormal pyramidal sign, Spastic tetraplegia |
OMIM:615419 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia |
ORPHA:330021 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Vocal cord paralysis, Depression, Syncope, Bradycardia |
ORPHA:221098 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Progressive neurologic deterioration, Rigidity, Splenomegaly, Anemia, Hypertonia, D... |
OMIM:230900 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodysplasia, Clubbing of... |
OMIM:156400 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... |
ORPHA:99880 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Congestive heart failure, In... |
ORPHA:2348 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomega... |
OMIM:607625 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Round face, Flat face, Hirsutism |
OMIM:224400 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin |
OMIM:620321 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Metaphyseal sclerosis, M... |
OMIM:260400 |
16P11.2P12.2 Microdeletion Syndrome |
|
Long face, Flat face, Impaired pain sensation |
ORPHA:261211 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Fatigable... |
ORPHA:169105 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent... |
ORPHA:209905 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impai... |
OMIM:256040 |
Distal Duplication 5Q |
|
Cryptorchidism, Flat face, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Sialidosis Type 1 |
|
Coarse facial features, Ataxia, Tremor, Splenomegaly, Slurred speech, Gait disturbance, Myoclonus |
ORPHA:812 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Absent ossification of capital femoral epiphysis, Prolonged neonatal jaundice |
ORPHA:226313 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... |
OMIM:137440 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... |
ORPHA:3051 |
Slc39A8-Cdg |
|
Inability to walk, Abnormality of the liver, Flat face, Dystonia |
ORPHA:468699 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Lagophthalmos, Micro... |
ORPHA:404454 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap... |
OMIM:168605 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Epicanthus, Telecan... |
ORPHA:438216 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Congestive heart fa... |
OMIM:615512 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Round face, Abnormal facial shape, Abdominal situs inversus, Flat face |
ORPHA:2062 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Gen... |
OMIM:259710 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Absent lacrimal punctum, Diabetes mellitus, Atrial septal defect, Ventricular septa... |
OMIM:243800 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... |
ORPHA:143 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Microcytic anemia, Short toe, Downslanted palpebral fissures, Talipes equinovarus, Hb... |
ORPHA:98791 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Narrow face, Spastic diplegia, Nail dystrophy, Spasticity, Triangular fac... |
ORPHA:93947 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Polyhydramnios, Sparse eyebrow, Chorea, Hemiparesis, Dystonia, Triangular face |
OMIM:618829 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Bilateral ptosis, Insulin resistance, Elevat... |
ORPHA:230 |
Congenital Myopathy 19 |
|
Cryptorchidism, Gait disturbance, Triangular face |
OMIM:618578 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Depression, Hyperkinetic movements, Gait disturbance, Upper limb s... |
ORPHA:457240 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Abnormal humerus morphology, Pancreatic cysts, Splenomegaly, Peri... |
ORPHA:464329 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... |
ORPHA:3463 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis, Ataxia |
OMIM:275630 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Flat face |
OMIM:224410 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, ... |
OMIM:300894 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Hyperlysinemia |
|
Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetrapares... |
ORPHA:2203 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Charge Syndrome |
|
Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect, Aplasia/Hypo... |
OMIM:214800 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Babinski sign, Prominent eyelashes, Hyperkinetic movements, Spasticity, Triang... |
OMIM:616420 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Thick eyebrow, Flat face, Highly arched eyebrow |
OMIM:614701 |
Desbuquois Dysplasia 2 |
|
Round face, Synophrys, Flat face, Coarse facial features |
OMIM:615777 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hirsutism, Hepatosp... |
ORPHA:79330 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... |
ORPHA:93325 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, Neoplasm of ... |
ORPHA:97289 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, My... |
ORPHA:309155 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Bradycardia, Sh... |
ORPHA:226307 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Triangular face, Facial asymmetry |
ORPHA:231147 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Antalgic gait, Diabetes mellitus, Ab... |
ORPHA:249 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Dystonia, Spasticity, Patent foramen ovale, Thrombocytopenia |
OMIM:251290 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Pericardial effusion, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic ... |
ORPHA:93552 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Fine hair, Long eyelashes, High anterior hairline, Triangular face, Facial asymmetry |
ORPHA:231137 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Tremor, Hypertension, Gait disturbance, Conjunctivit... |
ORPHA:90321 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Difficulty walking, Truncal a... |
ORPHA:369840 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, ... |
ORPHA:1454 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Paralysis, Hepat... |
ORPHA:2072 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Flat face, Thrombocytopenia |
OMIM:612394 |
Robinow-Sorauf Syndrome |
|
Flat face |
OMIM:180750 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Large hands, Hyp... |
OMIM:615574 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenomegaly,... |
OMIM:612840 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion |
ORPHA:85414 |
Short Stature, Brussels Type |
|
Abnormal facial shape, Triangular face |
ORPHA:2867 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Difficulty walk... |
ORPHA:502423 |
Otopalatodigital Syndrome, Type I |
|
Flat face, Nail dystrophy |
OMIM:311300 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:615356 |
Achondrogenesis, Type Ia |
|
Increased nuchal translucency, Flat face, Hydrops fetalis, Polyhydramnios |
OMIM:200600 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Postural tremor, Tapered finger, Splenomegaly, Micronodular cirrhosis, Babi... |
OMIM:301072 |
Scheie Syndrome |
|
Hepatomegaly, Coarse facial features, Cerebral palsy, Splenomegaly, Spastic paraparesis |
ORPHA:93474 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating a... |
OMIM:276700 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619981 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Round face, Incoordination, Ataxia, Cryptorchidism, Low anterior hairline, Frontal upsweep of hai... |
ORPHA:369891 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Cerebral palsy, Ataxia, Pericardial effusion, Splenomegaly, Hemiplegia/hemiparesis,... |
ORPHA:36412 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Panhypophysitis |
|
Orthostatic hypotension, Hyposthenuria, Polydipsia |
ORPHA:95513 |
Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Flat face, Sparse eyebrow |
ORPHA:560 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Cardiomegaly, Low posterior hairline, Left ventricular hypertrophy, Small face, Flat face, Thick ... |
OMIM:245600 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Tetrasomy 5P |
|
Coarse facial features, Flat face |
ORPHA:3309 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Sialuria |
|
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Low posterior hairline, Poor fine ... |
OMIM:269921 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Short proximal phalanx of finger, Downslanted palpebral fissures, Throm... |
OMIM:616638 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Hypoglycemia, Ventricular septa... |
OMIM:619418 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Involuntary movements, Dec... |
ORPHA:438213 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Fibrochondrogenesis 1 |
|
Flat face, Hydrops fetalis |
OMIM:228520 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... |
ORPHA:781 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Synophrys, Lower limb hypertonia, Abnormal cardiac septum morpho... |
ORPHA:97297 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Pulmonic stenosis, Atria... |
OMIM:610733 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Dilated cardiomyopathy, Abnormal blood ion concentration, Bradycar... |
ORPHA:79404 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Coarse facial features, Hepatosplenomegaly, Hyperkin... |
ORPHA:3166 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro... |
ORPHA:2828 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Progressive neurologic deterioration, Chorea, Abnorm... |
ORPHA:2131 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubine... |
OMIM:208500 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia |
OMIM:152700 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of ha... |
OMIM:618419 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Aplasia... |
ORPHA:39041 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n... |
ORPHA:33226 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Round face, Ataxia, Triangular face |
OMIM:616789 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormal eyebrow morphology, Polyhydramnios, Low anterior hairline, Bl... |
ORPHA:800 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Progressive neurologic deterioration, Preaxial polydactyly, Femoral bowing, Atrial se... |
OMIM:210710 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat face |
ORPHA:2001 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Broad femoral neck, Giant platelets, Small hand, Hypoplasia of the capital femoral ep... |
OMIM:611209 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... |
ORPHA:93323 |
Lig4 Syndrome |
|
Pancytopenia, Epicanthus, Telangiectasia, Acute lymphoblastic leukemia, Upslanted palpebral fissu... |
OMIM:606593 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... |
OMIM:617988 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... |
OMIM:610505 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Paraparesis, Femoral bowing, Tetraparesis, ... |
OMIM:602080 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d... |
ORPHA:1578 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Arthrogryposis, Distal, Type 2B3 |
|
Triangular face |
OMIM:618436 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Coarse facial features, Flat face |
ORPHA:94068 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Paraparesis, Short toe, Hepatosplenomegaly, Anem... |
ORPHA:333 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, ... |
OMIM:231670 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormalit... |
ORPHA:79473 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Triangular face |
OMIM:612626 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Thrombocy... |
ORPHA:3322 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Cryptorchidism, Spastic paraplegia, Flat face, Anemia |
ORPHA:847 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Abnormal facial shape, Gait disturbance, Triangular face, Long face |
ORPHA:85329 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Secundum atrial s... |
OMIM:608779 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Short attention span, Hypoglyce... |
ORPHA:17 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... |
ORPHA:797 |
Alazami Syndrome |
|
Retractile testis, Triangular face |
OMIM:615071 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Conjun... |
OMIM:263700 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... |
OMIM:145600 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip... |
OMIM:232220 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy,... |
OMIM:611126 |
Wiedemann-Steiner Syndrome |
|
Round face, Synophrys, Flat face, Long eyelashes, Congenital, generalized hypertrichosis, General... |
ORPHA:319182 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait disturbance, Apraxi... |
OMIM:616541 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... |
ORPHA:228308 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Flat face |
OMIM:615349 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Triangular face, Decreased liver function, Large face |
OMIM:614883 |
Distal Deletion 12Q |
|
Coarse facial features, Unilateral cryptorchidism, Impaired pain sensation, Biliary atresia, Fine... |
ORPHA:96149 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Thrombocy... |
ORPHA:508542 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:280365 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Downslanted palpebral fissures, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
3-Hydroxyisobutyric Aciduria |
|
Triangular face |
ORPHA:939 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Limb ataxia, Gait a... |
OMIM:619259 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function, Hypoten... |
ORPHA:178509 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Coarse facial features, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Hype... |
OMIM:230500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Flat face |
OMIM:183900 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Epicanthus, Aplasia of the thymus, Broad hallux, Sparse eyebrow, Patent foramen ovale, Lacrimal d... |
OMIM:620186 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... |
OMIM:614602 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Potter facies, Dehydration, Pe... |
OMIM:263200 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Horseshoe ki... |
OMIM:617140 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Epicanthus, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Confusion, Tremor, Depression, Hypertension, Pseudobulba... |
ORPHA:79276 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dysphagia, Bronchogenic cyst |
ORPHA:2357 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Spasticity, Hypertonia, Triangular face |
OMIM:616801 |
Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Adenoiditis, Cardiomegaly, Synophrys, Abnormal pyramidal si... |
ORPHA:581 |
Lassa Fever |
|
Shock, Oliguria, Dysphagia |
ORPHA:99824 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cryptorchidism, Breast hypoplasia, Long eyelashes, Absent axillary hair, Flat face |
OMIM:601353 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... |
ORPHA:182050 |
Legius Syndrome |
|
Triangular face, Low posterior hairline |
OMIM:611431 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Flat face, Hypoplastic nipples |
OMIM:156610 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Short... |
ORPHA:79102 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Inability to walk, Abnormal facial shape, Difficulty walking, Spasticity, Triangular face... |
ORPHA:481152 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Triangular face, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Polyhydramnios |
OMIM:618541 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Coarse facial features, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline... |
OMIM:248500 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Dystonia, Type I diabetes ... |
OMIM:618397 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Asymmetric crying face, Pericardial effusion, Cryptorchidism, Flat face, Long ... |
ORPHA:1272 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat face |
ORPHA:2780 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... |
ORPHA:562639 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Confusion, Hypertension, Normochromic anemia, Increased circulating c... |
ORPHA:95613 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Hemifacial hypoplasia, Lymphedema, Cryptorchidism, Flat face, Abnormal facial ... |
ORPHA:536471 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... |
OMIM:620306 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Triangular face, Polyhydramnios |
ORPHA:2774 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia |
ORPHA:397744 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Re... |
ORPHA:25 |
Lathosterolosis |
|
Hepatomegaly, Epicanthus, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydactyly, A... |
ORPHA:46059 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Depression, Hypophosphatemia, Pancreatitis |
OMIM:600740 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hemoglobin A1... |
OMIM:269700 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Kbg Syndrome |
|
Round face, Abnormal hair pattern, Cryptorchidism, Synophrys, Triangular face, Thick eyebrow |
ORPHA:2332 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrich... |
OMIM:252930 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hepatic steatosis, Hepatomegaly, Cognitive impairment, Anemia, Hypoglycemi... |
ORPHA:79259 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperte... |
OMIM:614653 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:614921 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hyper... |
ORPHA:43116 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplic... |
OMIM:227646 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... |
ORPHA:365 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
Dysostosis, Stanescu Type |
|
Flat face |
ORPHA:1798 |
Larsen Syndrome |
|
Cryptorchidism, Flat face, Short nail |
ORPHA:503 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar... |
ORPHA:319218 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Dextrocardia, Short hallux, Highly arched eyebrow, Conjugat... |
OMIM:620305 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Synophrys, Spasticity, Triangular face |
OMIM:613792 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... |
ORPHA:88 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe... |
OMIM:274000 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive... |
OMIM:261990 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Arthrogryposis, Distal, Type 2B2 |
|
Triangular face |
OMIM:618435 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:164310 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular... |
OMIM:256810 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology |
ORPHA:2237 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Upper limb undergrowth, Abnormal heart morphology, Upslanted... |
ORPHA:369837 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Fucosidosis |
|
Hepatomegaly, Coarse facial features, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyra... |
ORPHA:349 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormality of extrapyramidal m... |
ORPHA:79255 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Entropion, Sudden cardiac death, Myocardial infarction, Abnormality ... |
ORPHA:36426 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
12Q14 Microdeletion Syndrome |
|
Tremor, Abnormality of the spleen, Synophrys, Triangular face, Thick eyebrow |
ORPHA:94063 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Triangular face |
OMIM:166300 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Delirium, Abnormal EKG, Hepatomegaly, Abnormal central m... |
ORPHA:3385 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Anorexia, Int... |
ORPHA:97278 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dys... |
OMIM:168600 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ptosis, Toe syndactyly, Sandal gap, Epicanthus, Abnormality of n... |
ORPHA:235 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Hyperammonemia, Conjunctivitis, Lethargy |
OMIM:253260 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Epicanthus, Decreased heart rate variability, N... |
OMIM:619004 |
Apert Syndrome |
|
Flat face, Facial asymmetry |
ORPHA:87 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Overlapping toe, Clonus, Hypertonia, Long eyelashes, Talipes equino... |
OMIM:617301 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Steator... |
OMIM:617941 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Distal Duplication 18Q |
|
Cryptorchidism, Round face, Triangular face, Abnormal hair pattern |
ORPHA:1716 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Tapered finger, Tremor, Aggressive behavio... |
OMIM:619680 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Fucosidosis |
|
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Spastic tetraplegia... |
OMIM:230000 |
Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia |
OMIM:612291 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Vocal cord paralysis, Glucose intolerance, Clinodactyly of the 5th finger,... |
OMIM:194050 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Coarse facial features, Cerebral palsy, Abnormal hair patte... |
ORPHA:2796 |
Short Stature, Dauber-Argente Type |
|
Triangular face |
OMIM:619489 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Abnormality of the epiphysis of the femoral head, Splenomegaly, Jaundice, Hyperammo... |
OMIM:618641 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Tremor, Chorea, Abnormal pyramidal sign,... |
ORPHA:58 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Epicanthus, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Re... |
OMIM:227645 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia |
ORPHA:3002 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Femur fracture, Splenomegaly, Anemia, Hypocalcemic seizures |
OMIM:612301 |
Scrub Typhus |
|
Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension, Lethargy |
ORPHA:83317 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Anorexia, Neo... |
ORPHA:97261 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Clonus, Thrombocytopenia, Genu valgum, Depression, Self-injurious be... |
ORPHA:534 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Cardiomyopathy, Polydipsia, Long penis |
ORPHA:769 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Ivic Syndrome |
|
Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb, Radioulnar synost... |
ORPHA:2307 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Leuko... |
OMIM:613990 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Flat face |
ORPHA:93360 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal eyebrow morphology, Diabetes mellitus, Telangiec... |
ORPHA:1775 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Craniofacial disproportion, Triangular face, Hepatocellular carcinoma |
OMIM:180860 |
Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Dystonia, Cholelithiasis, Spasticity |
OMIM:619273 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Ventricular septal defect, Progressive ne... |
OMIM:614947 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Sparse eye... |
OMIM:252500 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Absent lower eyelashes, Anemia, Keratoconjunctivitis... |
OMIM:620370 |
Pmm2-Cdg |
|
Pericarditis, Epicanthus, Angina pectoris, Ataxia, Abnormality of coordination, Pericardial effus... |
ORPHA:79318 |
Arthrogryposis, Distal, Type 5 |
|
Hypertonia, Triangular face |
OMIM:108145 |
Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Hypoglycemia, Splenomegaly, Babinski sign, Concentric hypertrophic cardiomy... |
OMIM:252010 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Ventricular septal defect, Tapered finger, Coxa valga, Abnormal repetitive mannerisms... |
OMIM:301040 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Tremor, Long fingers, Sparse eyebrow, Epib... |
OMIM:617557 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, Spasticity |
OMIM:618527 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Polyhydramnios, Lymphedema, Splenomegaly... |
OMIM:613563 |
Campomelia, Cumming Type |
|
Hepatomegaly, Coarse facial features, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, ... |
ORPHA:1318 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol... |
OMIM:600901 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Synophrys, Elliptocytosis, Flat face, Anemia |
OMIM:300990 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Orofaciodigital Syndrome Type 10 |
|
Flat face |
ORPHA:2756 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Triangular face |
ORPHA:1154 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Long face, Pain insensitivity, Broad-based gait, Ataxia, Cryptorchidism, Synophry... |
OMIM:617330 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Highly arched eyebrow, Cryptorchidism, Synophrys, Triangular face, Hypertrichosis |
OMIM:618316 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:207900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Triangular face |
ORPHA:231140 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Tremo... |
ORPHA:86309 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol... |
OMIM:227650 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Zika Virus Disease |
|
Conjunctivitis, Thrombocytopenia |
ORPHA:448237 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D... |
OMIM:272750 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Epicanthus, Ectropion, Ventricular septa... |
ORPHA:2308 |
Al Kaissi Syndrome |
|
Synophrys, Triangular face, Torticollis, Broad-based gait |
OMIM:617694 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Short attention span, Hypercalcemia, Anorexia, Confusion, Shortened QT ... |
ORPHA:652 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Menke-Hennekam Syndrome 2 |
|
Square face, Flat face |
OMIM:618333 |
Campomelic Dysplasia |
|
Flat face |
ORPHA:140 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy... |
OMIM:610199 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Edema |
ORPHA:33577 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Rigidity, Long fingers, ... |
OMIM:617527 |
Craniofacial-Deafness-Hand Syndrome |
|
Flat face |
OMIM:122880 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell... |
OMIM:615758 |
Rift Valley Fever |
|
Anorexia, Paralysis, Hematemesis, Paraparesis, Jaundice, Retinal hemorrhage, Hepatitis, Melena, A... |
ORPHA:319251 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Abnormality of extrapyramidal motor function, Difficulty walking, P... |
ORPHA:320406 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Widow's peak, Unsteady gait, Poor fine motor coordination, Abnormal facial shape,... |
ORPHA:96148 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, ... |
OMIM:617281 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Chorea, Vasculitis, Biliary cirr... |
ORPHA:289390 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Unsteady gait, Distal sensory impairment, Gait ataxia, Triangular face |
OMIM:616652 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Bone marrow ... |
OMIM:613989 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Noonan Syndrome 14 |
|
Curly hair, Coarse facial features, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior... |
OMIM:619745 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Apert Syndrome |
|
Cryptorchidism, Flat face |
OMIM:101200 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Torticollis, Flat face |
OMIM:611929 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Sparse scalp hair, Short nail, Oval face, Paraplegia, Flat face |
OMIM:271640 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Flat face, Facial asymmetry |
ORPHA:93315 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Facial asymmetry, Unsteady gait, Abnormal facial shape, Triangular ... |
ORPHA:457279 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio... |
OMIM:616084 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Atrial septal defect, Epicanthus, Proportionate shortening of all digits, Elevated circulating al... |
ORPHA:280633 |
Behçet Disease |
|
Myocardial infarction, Pulmonary embolism, Anorexia, Abnormal pyramidal sign, Ataxia, Confusion, ... |
ORPHA:117 |
Silver-Russell Syndrome 2 |
|
Triangular face |
OMIM:618905 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Tapered finger, Hig... |
ORPHA:487796 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Atrial septal defect, Severe B lymphocytopenia, Portal hypertension, Tapered fi... |
OMIM:620005 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Atrial septal defect, Ventricular septal defect, Abnormal eyelas... |
OMIM:147791 |
Cornelia De Lange Syndrome 1 |
|
Ptosis, Ventricular septal defect, Micromelia, Proximal placement of thumb, Curly eyelashes, High... |
OMIM:122470 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Abnormal facial shape, Triangular face, Spastic tetraplegia, Hyperesthesia |
ORPHA:371364 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Cryptorchidism, Triangular face, Supernumerary nipple |
OMIM:619243 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Triangular face, Sparse hair, Hepatocellular carcinoma |
OMIM:616200 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... |
ORPHA:391487 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... |
OMIM:616433 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Impaired vibratory sensation, Clonus... |
ORPHA:415 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Trip... |
ORPHA:84 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Anemia, Leukopenia, B... |
OMIM:603467 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Diabetes mellitus, Spl... |
OMIM:608594 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... |
OMIM:131100 |
Silver-Russell Syndrome 3 |
|
Unilateral cryptorchidism, Triangular face, Oligohydramnios |
OMIM:616489 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... |
ORPHA:512 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
Chopra-Amiel-Gordon Syndrome |
|
High anterior hairline, Triangular face |
OMIM:619504 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly |
OMIM:620296 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Eosinophilia, Fasciculations |
ORPHA:99965 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening |
OMIM:617994 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Sparse eyelashes, Nasolacrimal duct obstruction, Hepatic fibrosis,... |
OMIM:224230 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Camurati-Engelmann Disease |
|
Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly, Ataxia, Ab... |
ORPHA:1328 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:32960 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... |
ORPHA:538 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flat face, Hypertrichosis |
OMIM:619479 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... |
OMIM:619769 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadriplegia, Portal fibro... |
OMIM:207800 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Triangular face |
OMIM:617352 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Long eyelashes, Flat face |
OMIM:268310 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Sotos Syndrome |
|
Narrow face, Sparse eyebrow, Cryptorchidism, Poor coordination, Prolonged neonatal jaundice, High... |
OMIM:117550 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Fine hair, Athetosis, Sparse hair, Triangular face |
OMIM:614438 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Aggressive behavior, Recurrent upper respiratory tract infections, Enuresis, Self-inj... |
ORPHA:293987 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Larsen Syndrome |
|
Cryptorchidism, Flat face, Short nail |
OMIM:150250 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Nail dystrophy, Craniofacial asymmetry, Flat face, Broad eyebrow |
OMIM:601088 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia |
OMIM:277480 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Chorea, Depression, Lymphadenopathy, Leukopenia, Hypertensi... |
ORPHA:536 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Abnormal g... |
ORPHA:98907 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Triangular face, Cholestasis |
OMIM:610205 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response, Syncope, Myoclonus |
OMIM:614618 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Rigidi... |
ORPHA:521426 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia |
ORPHA:514 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Fasciculations, Atrial septal defect, Patent foramen ovale,... |
OMIM:620327 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Sandal gap, Epicanthus, ... |
OMIM:251260 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia |
OMIM:272800 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Small face, Sparse scalp hair, Flat face |
OMIM:130070 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Cryptorchidism, Synophrys, Low anterior hairline, Flat face, Long face |
OMIM:616734 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospadias |
OMIM:300219 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Long face, Synophrys, Hypertrichosis, Triangular face, Broad eyebr... |
OMIM:620113 |
Campomelic Dysplasia |
|
Small face, Flat face, Short nail, Polyhydramnios |
OMIM:114290 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal eyelid morphology, Acute leukemia, Upslan... |
ORPHA:647 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic... |
OMIM:203700 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Flat face |
ORPHA:1299 |
Sotos Syndrome |
|
Ventricular septal defect, Hypercalcemia, Aggressive behavior, Tremor, Bilateral camptodactyly, P... |
ORPHA:821 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Mitral regurgitation, Dementi... |
ORPHA:447753 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Absent thumb, Bilateral radial aplasia, Thrombocytopenia |
OMIM:300514 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Coxa vara, Tibial bowing, Hypophosphatemic rickets, Hypocalcemic tetany, ... |
ORPHA:289176 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Sparse eyebrow, Synophrys, Gait disturbance, High anterior hairline, Triang... |
OMIM:620098 |
Osteogenesis Imperfecta, Type V |
|
Triangular face |
OMIM:610967 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia |
OMIM:614748 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Flat face, Thick eyebrow, Facial asymmetry |
ORPHA:488434 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Lymphedema, Abnormality of the spleen, Cryptorchidism, Abno... |
ORPHA:648 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Cerebral edema, Cirrhosis |
OMIM:215700 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Insulinoma, Fasting hyperinsulinemia, Thymoma, Extrahepatic cholestasis, Increased... |
ORPHA:276152 |
Galactosialidosis |
|
Coarse facial features, Nonimmune hydrops fetalis, Visceromegaly, Hepatosplenomegaly |
OMIM:256540 |
Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, Triangular face, Impaired pain sensation |
ORPHA:314389 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Epiblepharon, Irritabil... |
OMIM:618367 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Hematochezia, Inc... |
ORPHA:913 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal alloimmune thrombo... |
ORPHA:853 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... |
ORPHA:244242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Hypoglycemia, Highly arched eyebrow, Increased hepatocellular lipid droplets, Tremor, Mic... |
OMIM:220111 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Triangular face |
ORPHA:73230 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
OMIM:620233 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Somatic sensory dysfunction, Ataxia, Spasticity, High anterior hairline, Triangular face |
OMIM:615510 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Abnorm... |
ORPHA:163746 |
Paganini-Miozzo Syndrome |
|
Triangular face |
OMIM:301025 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Triangular face, Oligohydramnios |
ORPHA:397590 |
Kyphomelic Dysplasia |
|
Flat face |
OMIM:211350 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Epicanthus, Hypertension, Atrial septal defect, Neonatal hyperbilirubinemia, Thick eyebrow |
OMIM:300896 |
Halperin-Birk Syndrome |
|
Inability to walk, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Long eyelashes, Trian... |
OMIM:618651 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Loss of eyelashes, ... |
ORPHA:95159 |
Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Highly arched eyebrow, Synophrys, Abnormal facial shape, Triangular face, Thic... |
OMIM:270450 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Cervical lymphadenopathy, Neoplasm of the liver, Palpitations, Hypertensive crisis... |
ORPHA:653 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Flat face, Long face |
OMIM:618820 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Triangular face, Aplasia/Hypoplasia of the eyebrow, Facial asymmetry |
ORPHA:1131 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Sparse eyelashes, Anemia, Leukopenia, Conjunctiviti... |
OMIM:305000 |
Chromosome 10Q26 Deletion Syndrome |
|
Broad-based gait, Cryptorchidism, Low posterior hairline, Triangular face, Facial asymmetry |
OMIM:609625 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Triangular face |
ORPHA:77258 |
Blue Rubber Bleb Nevus |
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Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Holoprosencephaly 7 |
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Synophrys, Flat face, Broad face |
OMIM:610828 |
Multiple System Atrophy 1, Susceptibility To |
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Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cog... |
OMIM:146500 |
Thrombocytopenia 6 |
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Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Alazami Syndrome |
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Sparse eyebrow, Triangular face |
ORPHA:319671 |
Andersen-Tawil Syndrome |
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Periodic hyperkalemic paralysis, Periodic paralysis, Abnormal facial shape, Periodic hypokalemic ... |
ORPHA:37553 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Triangular face |
OMIM:619638 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Thrombocytopenia |
ORPHA:96181 |
Feingold Syndrome 1 |
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Accessory spleen, Polyhydramnios, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas, ... |
OMIM:164280 |
Three M Syndrome 1 |
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Triangular face, Decreased testicular size, Thick eyebrow |
OMIM:273750 |
Plague |
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Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Unsteady gait, Slu... |
ORPHA:707 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Coarse facial features, Generalized hirsutism, High anterior hairline, Triangular face, Thick eye... |
ORPHA:1292 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Woodhouse-Sakati Syndrome |
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Alopecia, Triangular face, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functi... |
OMIM:241080 |
Carney Triad |
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Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... |
ORPHA:139411 |
Cockayne Syndrome B |
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Hepatomegaly, Dry hair, Ataxia, Abnormal hair morphology, Splenomegaly, Tremor, Cryptorchidism, S... |
OMIM:133540 |
Ring Chromosome 7 Syndrome |
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Hydrocele testis, Low anterior hairline, Flat face, Highly arched eyebrow |
ORPHA:1449 |
Agammaglobulinemia 9, Autosomal Recessive |
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Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Beemer-Ertbruggen Syndrome |
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Thrombocytopenia |
ORPHA:1237 |
Nizon-Isidor Syndrome |
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Sparse eyebrow, Triangular face, Upper eyelid edema |
OMIM:618872 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Mesomelia-Synostoses Syndrome |
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Abnormal eyebrow morphology, Triangular face |
ORPHA:2496 |
Arthrogryposis, Distal, Type 2B1 |
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Triangular face |
OMIM:601680 |
Thymoma |
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Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Distal 17P13.1 Microdeletion Syndrome |
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Abnormal facial shape, Triangular face |
ORPHA:319171 |
Down Syndrome |
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Flat face, Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Cole-Carpenter Syndrome 2 |
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Triangular face, Oligohydramnios |
OMIM:616294 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353277 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Curly hair, Lower limb spasticity, Cerebral palsy, Ataxia, Coarse facial features, Low anterior h... |
OMIM:619950 |
Marbach-Rustad Progeroid Syndrome |
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Triangular face, Intention tremor |
OMIM:619322 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Broad-based gait, Abnormal facial shape, Triangular face, Distal sensory impairment |
ORPHA:477817 |
Hyperekplexia 2 |
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Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Abnormal endocardium morphology, Bowing of the long bones, Rhizomelia, Atax... |
ORPHA:666 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Waardenburg Syndrome Type 3 |
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Atelectasis |
ORPHA:896 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Dysphagia, Pulmonary art... |
ORPHA:258 |
Menke-Hennekam Syndrome 1 |
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Square face, Cryptorchidism, Long eyelashes, Sparse hair, Flat face, Thick eyebrow |
OMIM:618332 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Arachnodactyly, Narrow palpebral fissure, Bradycardia, Pulmonary insufficiency, Downslanted palpe... |
OMIM:614437 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Triangular face |
ORPHA:85327 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Increased hepat... |
OMIM:619525 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Waddling gait, Triangular face, Oligozoospermia, Sparse hair, Breast hypoplasia, Long face |
OMIM:614813 |
Elliptocytosis 1 |
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Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Hyperekplexia 1 |
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Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Osteogenesis Imperfecta, Type Xiii |
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Triangular face, Long eyelashes, Generalized hirsutism |
OMIM:614856 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures |
ORPHA:405 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity... |
OMIM:300967 |
Fanconi Anemia, Complementation Group I |
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Triangular face, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Isolated Osteopoikilosis |
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Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
20Q13.33 Microdeletion Syndrome |
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Triangular face, Highly arched eyebrow, Oligohydramnios |
ORPHA:261311 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353281 |
Short Syndrome |
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Sparse hair, Alopecia, Triangular face |
ORPHA:3163 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Triangular face, Facial asymmetry |
ORPHA:1110 |
Bruck Syndrome |
|
Triangular face |
ORPHA:2771 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Unilateral cryptorchidism, Bilateral cryptorchidism, Inability to walk, Cryptorchidism, Hypertoni... |
OMIM:613457 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, N... |
ORPHA:116 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Sparse hair, Cryptorchidism, Ataxia, Triangular face |
OMIM:300661 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Brittle hair, Triangular face, Long face |
OMIM:619184 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Three M Syndrome 3 |
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Triangular face |
OMIM:614205 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Long eyelashes, Flat face |
OMIM:180700 |
Omodysplasia 1 |
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Cryptorchidism, Flat face |
OMIM:258315 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Triangular face, Facial asymmetry, Periodic paralysis |
OMIM:170390 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Atelectasis, Large v... |
ORPHA:728 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Triangular face |
ORPHA:3218 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior... |
OMIM:601358 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Flat face, Facial asymmetry |
OMIM:101400 |
Distal Deletion 3P |
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Cryptorchidism, Spasticity, Abnormal vestibulo-ocular reflex, Triangular face |
ORPHA:1620 |
Ohdo Syndrome, X-Linked |
|
Coarse facial features, Sparse eyebrow, Cryptorchidism, High anterior hairline, Triangular face, ... |
OMIM:300895 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Speech apraxia, Long face, Ataxia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism... |
ORPHA:466791 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Osteogenesis Imperfecta, Type Iii |
|
Triangular face |
OMIM:259420 |
Trisomy 18 |
|
Narrow face, Cryptorchidism, Hypertonia, Triangular face, Oligohydramnios |
ORPHA:3380 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Epistaxis, Hematemesis, Myocardit... |
ORPHA:73263 |
Cree Mental Retardation Syndrome |
|
Cryptorchidism, Triangular face |
OMIM:606851 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Exaggerated startle response, Epicanthus, Telecanthus, Atrial septal defect, Ventricul... |
OMIM:619522 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Decreased proportion of CD4-positive helper T cells, Leukopen... |
OMIM:242840 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Triangular face |
OMIM:612940 |
Chromosome 17Q12 Duplication Syndrome |
|
Triangular face |
OMIM:614526 |
3M Syndrome |
|
Triangular face, Thick eyebrow |
ORPHA:2616 |
Three M Syndrome 2 |
|
Triangular face |
OMIM:612921 |
Acromesomelic Dysplasia 4 |
|
Synophrys, Generalized hirsutism, Triangular face, Thick eyebrow, Hypertrichosis |
OMIM:619636 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Abnormality... |
ORPHA:79078 |
Alport Syndrome 1, X-Linked |
|
Hypertension, Thrombocytopenia |
OMIM:301050 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Triangular face, Oligohydramnios |
OMIM:616914 |
Short Syndrome |
|
Triangular face |
OMIM:269880 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Triangular face, Long face |
OMIM:614114 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Gait ataxia, Difficulty walking, Abnormal facial shape, Triangular face, Broad ey... |
ORPHA:457359 |
Silver-Russell Syndrome |
|
Cryptorchidism, Triangular face, Decreased testicular size |
ORPHA:813 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Long face, Triangular face, Gait ataxia |
OMIM:617011 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Dysphagia, Sinus bradycardia |
OMIM:619482 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hyperto... |
OMIM:602535 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Triangular face, Long face |
ORPHA:1974 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder diverticula, Emphysema, ... |
OMIM:613177 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Macrovesicu... |
OMIM:619127 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Acute lymphoblastic leukemia, Ascites, Triangular ... |
ORPHA:1052 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ptosis, Epicanthus, Ventricul... |
OMIM:163950 |
Meier-Gorlin Syndrome 3 |
|
Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Breast hypoplasia, Triangular face |
OMIM:613803 |
Kbg Syndrome |
|
Round face, Cryptorchidism, Synophrys, Low anterior hairline, Low posterior hairline, Triangular ... |
OMIM:148050 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, Cystocele, Fl... |
ORPHA:286 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Low anterior hairline, T lymphocytopenia, Abnormal B cell morphology, Tria... |
OMIM:618223 |
Arboleda-Tham Syndrome |
|
Highly arched eyebrow, Facial asymmetry, Bilateral cryptorchidism, Upper eyelid edema, Lower limb... |
OMIM:616268 |
Osteogenesis Imperfecta, Type Xi |
|
Triangular face |
OMIM:610968 |
Cutis Laxa, Autosomal Dominant 3 |
|
Triangular face |
OMIM:616603 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Triangular face |
ORPHA:2135 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Triangular face, Choreoathetosis, Dystonia, Decreased testicular size, Aplasia/Hypoplas... |
ORPHA:3464 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Spastic tetraparesis, Cryptorchidism, Widow's peak, Annular pancreas, Triangular face, Broad eyebrow |
OMIM:616975 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Round face, Highly arched eyebrow, Spastic tetraparesis, Synophrys, Low anterior hairline, Hypert... |
OMIM:301044 |
Congenital Myopathy 17 |
|
Triangular face, Polyhydramnios |
OMIM:618975 |
3Q27.3 Microdeletion Syndrome |
|
Triangular face |
ORPHA:397695 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Triangular face |
OMIM:613805 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa... |
OMIM:118450 |
Renpenning Syndrome 1 |
|
Long face, Narrow face, Brittle hair, Triangular face, Sparse hair, Spasticity, Decreased testicu... |
OMIM:309500 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Bartter Syndrome Type 4 |
|
Dehydration, Triangular face, Polyhydramnios, Clumsiness |
ORPHA:89938 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Cryptorchidism, Synophrys, Low anterior hairline, Oligohydramni... |
OMIM:612289 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Cryptorchidism, Poor coordination, Spastic diplegia, Low posterior hairline, Triangular face, Lon... |
OMIM:309590 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Triangular face, Anemia, Pancreatic aplasia |
OMIM:609069 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarse facial features, Triangular face |
OMIM:617260 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Cryptorchidism, Abnormal facial shape, Triangular face |
ORPHA:96182 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Ataxia, Action tremor, Tremor, Cryptorchidism, Synophrys, Hypertonia, Truncal ... |
ORPHA:3455 |
Alström Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertension, Short toe, Dilate... |
ORPHA:64 |
Osteogenesis Imperfecta, Type X |
|
Triangular face |
OMIM:613848 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Triangular face |
ORPHA:500 |
Distal 22Q11.2 Microduplication Syndrome |
|
Coarse facial features, Palpebral edema, Cryptorchidism, Low posterior hairline, Triangular face |
ORPHA:261337 |
Mullegama-Klein-Martinez Syndrome |
|
Curly eyelashes, Unsteady gait, Low anterior hairline, High anterior hairline, Triangular face |
OMIM:301022 |
Tolchin-Le Caignec Syndrome |
|
Thick eyebrow, Triangular face, Hirsutism, Long face |
OMIM:618971 |
15q26 overgrowth syndrome |
|
Long face, Abnormal facial shape, High anterior hairline, Triangular face, Facial asymmetry |
DECIPHER:81 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Widow's peak, Triangular face |
OMIM:227330 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Round face, Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Long lower eyelashes, Tria... |
OMIM:612474 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Narrow face, Poor motor coordination, Unilateral cryptorchidism, P... |
OMIM:613406 |
Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
17Q24.2 Microdeletion Syndrome |
|
Synophrys, Triangular face, Thick eyebrow |
ORPHA:529962 |
Lethal Congenital Contracture Syndrome 9 |
|
Triangular face, Polyhydramnios |
OMIM:616503 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Triangular face |
OMIM:619575 |
Distal Deletion 15Q |
|
Cryptorchidism, Coarse facial features, Triangular face |
ORPHA:1596 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Bilateral cryptorchidism, Triangular face, Oligohydramnios |
OMIM:617402 |
Leopard Syndrome 1 |
|
Cryptorchidism, Triangular face |
OMIM:151100 |
Floating-Harbor Syndrome |
|
Cryptorchidism, Low posterior hairline, Long eyelashes, Generalized hypertrichosis, Triangular fa... |
OMIM:136140 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Triangular face |
OMIM:617403 |
Floating-Harbor Syndrome |
|
Speech apraxia, Cryptorchidism, Broad-based gait, Triangular face |
ORPHA:2044 |
Galactosialidosis |
|
Coarse facial features |
ORPHA:351 |
Autosomal Dominant Cutis Laxa |
|
Abnormal facial shape, Triangular face |
ORPHA:90348 |