Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functiona... |
ORPHA:29073 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... |
ORPHA:172 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Confusion, Autoimmune hypoparathyroidism... |
ORPHA:36913 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean c... |
ORPHA:90041 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Decreased response to grow... |
ORPHA:94089 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hy... |
OMIM:612462 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Chvostek sign, Irritability, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemi... |
OMIM:146200 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormality of the kidney, Hemip... |
ORPHA:2591 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Su... |
OMIM:103580 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Ir... |
ORPHA:69077 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ... |
ORPHA:398063 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase... |
ORPHA:158048 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... |
ORPHA:309169 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Intestinal obstruction, Hypoplasia of penis, Abnormal dental enamel morpholog... |
ORPHA:2323 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... |
OMIM:241410 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Hypercalcemia, Peptic ulcer, Parathormone-independent increase... |
OMIM:600740 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... |
ORPHA:99879 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ... |
ORPHA:2668 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen... |
OMIM:617872 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp... |
OMIM:211000 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormality o... |
ORPHA:436 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Confusion, Decreased respo... |
ORPHA:79444 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Low urin... |
ORPHA:94090 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro... |
ORPHA:2123 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid... |
OMIM:618440 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Mal... |
ORPHA:2315 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect... |
ORPHA:280062 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepatomegaly, Th... |
OMIM:235255 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abn... |
OMIM:241500 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Dementia, Ataxia |
ORPHA:2274 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
OMIM:603233 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st... |
OMIM:614732 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... |
OMIM:603553 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My... |
OMIM:145600 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypercalciuria, Reduced bone mineral density, Depression, Nephrocalcinosis, Hyper... |
ORPHA:428 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Hypocal... |
ORPHA:94093 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa... |
OMIM:232220 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Parathyroid hyperplasia, Calvarial osteosclerosis, ... |
OMIM:617994 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, High palate, Hypocalcemia, Protein-losing enteropathy, Micropenis, Hepatomegaly, Cr... |
ORPHA:1655 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepato... |
ORPHA:2088 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:203330 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Microcephaly, Tremor, Cryptorchidism, Jaundice, Flexion contractur... |
OMIM:608093 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Hypoglycemic seizures, Gingivitis, Nephrocalcinosis, Inflammation of the ... |
ORPHA:79259 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancre... |
ORPHA:97289 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Elevated circulating a... |
OMIM:227810 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Nephrolithiasis, Papillary renal c... |
OMIM:145001 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hyperphosphaturia, Hypoparathyroidism, Hypercalcemia, Micrognathia, ... |
OMIM:156400 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno... |
OMIM:239200 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Hypocalcemia, Microdo... |
ORPHA:557003 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt... |
OMIM:232200 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormal... |
ORPHA:93160 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Urinary incontinence, Micrognathia, Tremor, Complete atrioventric... |
ORPHA:476126 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholester... |
OMIM:610539 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Paraparesis, Fractures of the long bones, Osteolysis, Increased susceptibility to ... |
OMIM:602080 |
Parathyroid Carcinoma |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h... |
ORPHA:143 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Unilateral renal age... |
OMIM:101800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, ... |
OMIM:617303 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... |
ORPHA:75234 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity |
OMIM:611105 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h... |
ORPHA:99880 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Func... |
ORPHA:90362 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... |
ORPHA:64743 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Peptic ulcer, Parathormone-... |
ORPHA:405 |
Fibrous Dysplasia Of Bone |
|
Patchy reduction of bone mineral density, Cortical irregularity, Osteomalacia, Abnormal mandible ... |
ORPHA:249 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Failure to thrive, Osteomyelitis, Cra... |
OMIM:259700 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... |
ORPHA:276435 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Rickets, Abnormal pyramidal... |
ORPHA:213 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Nephrocalc... |
ORPHA:369837 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi... |
ORPHA:199299 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Urinary incontinence, Tremor, Abnormal circulating calcium concentration, Chorea, R... |
OMIM:213600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... |
ORPHA:264580 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Diabetes mellitus, Microcytic ane... |
ORPHA:168569 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... |
ORPHA:85445 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorptio... |
OMIM:145981 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Saccharopinuria |
|
Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, G... |
ORPHA:3124 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Microcephaly, Tremor, Dysphagia, Choreoathetosis,... |
OMIM:261630 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Renal insufficiency, Foot joi... |
ORPHA:90321 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... |
OMIM:264700 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Anemia, Cortical thickening of long bone diaphyses, ... |
ORPHA:93325 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemia, H... |
OMIM:193100 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Hypoalbuminemia, Abn... |
OMIM:226300 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Confusion, Tremor, Hemolytic-uremic syndrome, Jaundice, Schistocyto... |
OMIM:274150 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... |
OMIM:127000 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Monosomy 13Q34 |
|
Hypercalcemia, Microcephaly, Micrognathia, Fetal pyelectasis, Insulin resistance, Obesity, Hemato... |
ORPHA:96168 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption |
OMIM:152800 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Flexion contracture, Hypoalbuminemia, Gastroesophage... |
ORPHA:89842 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, Hy... |
OMIM:612089 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma... |
ORPHA:79262 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Clonus, Micrognathia, Hypertonia, Hypocalcemia, Hepatomegaly, Incre... |
OMIM:259720 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Depression, Ascites, Subcutaneous lipoma, El... |
ORPHA:97280 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoaciduria, Pr... |
OMIM:619991 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Carious teeth, Delayed epiphyse... |
OMIM:277440 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia,... |
ORPHA:89937 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal... |
ORPHA:216873 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Intestinal carcinoid, Neoplasm of the small intestine, Ascit... |
ORPHA:97278 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Neoplasm of the small intestine, Ascites, Subcutaneous lipom... |
ORPHA:97283 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,... |
ORPHA:157215 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemi... |
ORPHA:99828 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Microcephaly, Micrognathia, Splenomegaly, Renal hypoplasia,... |
OMIM:617913 |
Vipoma |
|
Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematochezia, Neoplasm... |
ORPHA:97282 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Malabsorption |
ORPHA:1116 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Microcephaly, Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcem... |
ORPHA:93324 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom... |
OMIM:269920 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Failure to thrive, Hypoparathyroidism, Hypoglycemia, Hypercalcem... |
ORPHA:85138 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clonus, Tremor, C... |
OMIM:615673 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:300009 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Micrognathia, Umbilical hernia, Nephroblastoma, Enlar... |
OMIM:618272 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed... |
OMIM:300554 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Pericardial effusion, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, H... |
OMIM:613885 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... |
OMIM:613388 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:276621 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Vocal cord paralysis, Ne... |
OMIM:194050 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... |
ORPHA:79095 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Obesity, Colitis, Hypoalbuminemia |
ORPHA:88643 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... |
OMIM:179800 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal... |
ORPHA:53035 |
Leprechaunism |
|
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly... |
ORPHA:508 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Mental deterioration, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... |
OMIM:241530 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr... |
ORPHA:509 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Right ventricular dilatation, Gastroesophageal reflux, Abnormal le... |
ORPHA:79328 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Cardiomyocyte mitoc... |
ORPHA:423 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... |
OMIM:230350 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Decreased glomerular fi... |
ORPHA:340 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... |
OMIM:617013 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Osteomalacia... |
ORPHA:562 |
Orthostatic Hypotension 1 |
|
Joint hypermobility, Reduced circulating prolactin concentration, Nocturia, Increased blood urea ... |
OMIM:223360 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulati... |
OMIM:235200 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Limb fasciculations, Abnormality of t... |
ORPHA:90117 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenes... |
OMIM:216360 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Peptic ulcer, Elevated circulating gr... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Microcephaly,... |
OMIM:619743 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment |
OMIM:614018 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... |
OMIM:159950 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Progressive alveolar... |
OMIM:252500 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Distal symphalangism, Micrognathia, Elevated circulating creatinine concentratio... |
OMIM:154230 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Microcephaly, Tremor, Splenomegaly, Rigidity, Irritability, Dysto... |
OMIM:615010 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Eso... |
OMIM:617341 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal defect, Patent foramen ov... |
ORPHA:505248 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Stomatitis, Celiac disease, Osteoporosi... |
OMIM:212750 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Progressive neurologic deterioration, L... |
ORPHA:263455 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Malabsorption, Thrombocy... |
ORPHA:47 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... |
ORPHA:276152 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm... |
OMIM:614307 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Clonus, Micrognathia,... |
ORPHA:534 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:29072 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Neona... |
ORPHA:116 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestational age, ... |
OMIM:261640 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d... |
ORPHA:652 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy... |
ORPHA:466650 |
Timothy Syndrome |
|
Thin upper lip vermilion, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Mi... |
OMIM:601005 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, ... |
OMIM:613490 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High palate, Gastroesoph... |
OMIM:613658 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypoglycemia, Hypercalcemia, Renal salt was... |
ORPHA:95409 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Sandhoff Disease |
|
Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Progressive psychomotor deterioration, Mot... |
ORPHA:796 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonar... |
ORPHA:667 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... |
ORPHA:2785 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... |
ORPHA:90291 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio... |
OMIM:212140 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Micropenis, Decreased skull ossification, Hypocalcemia, Hypoplastic ... |
OMIM:602361 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Short attention span, Dental crowding, Microcephaly, Tremor, Micrognathia, Persiste... |
OMIM:618342 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Fractures ... |
ORPHA:464329 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Proteus Syndrome |
|
Splenomegaly, Open mouth, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostos... |
OMIM:176920 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Flexion contracture, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myoclonus, Dysphag... |
ORPHA:2590 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Nephropathy, Flexion contracture, Os... |
ORPHA:87876 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Chor... |
ORPHA:79312 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, B... |
OMIM:613280 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal refl... |
OMIM:608971 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Abnormal dental mo... |
ORPHA:2136 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, M... |
OMIM:607317 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Micrognathia, Renal hypoplasia/aplasia, Thin vermilion border, H... |
ORPHA:1438 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Cachexia, Tremor, Chorea, Babinski sign, Dy... |
OMIM:618093 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Hypoplasia o... |
OMIM:200995 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia |
OMIM:618387 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, ... |
ORPHA:37042 |
Hypotonia-Cystinuria Syndrome |
|
Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Nephrolithiasi... |
OMIM:606407 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... |
OMIM:300635 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Joint laxity, Aganglionic megacolon, Hypercalcemia, Elevated... |
ORPHA:653 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t... |
OMIM:314390 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Decreased skull ossif... |
OMIM:244460 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Progressive neurologic deterioration, Tremor, Movement abnormality of the ... |
ORPHA:254881 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cir... |
OMIM:232500 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hepatomegaly, Rena... |
OMIM:615688 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Microcephaly, Chorea, Insulin-resistant diabetes m... |
ORPHA:401768 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, T... |
OMIM:208920 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Proteinuria, Failure to thrive in infancy, Splenomegaly, Abnormal pyramidal... |
ORPHA:834 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis,... |
OMIM:618188 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, H... |
OMIM:614702 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Hydroureter, Protruding tongu... |
OMIM:259775 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Microcephaly, Splenomegaly, Abnormality of the urin... |
ORPHA:2204 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Ataxia, Rigidity, Increased skull ossification, Craniofacial osteoscl... |
OMIM:618476 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Depression, Memory impairment, Hyperost... |
ORPHA:77296 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema... |
OMIM:248370 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A... |
ORPHA:289176 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Radial club hand, Th... |
OMIM:617053 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... |
OMIM:175500 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left ventricular hypertrophy, Elevated ci... |
OMIM:300280 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Elevated circulating creatinine concentration, Hypogeusia, Gastroesophageal reflu... |
OMIM:223900 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Microcephaly, Micrognathia, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin... |
OMIM:608540 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Microcephaly, Hepatic failure, Renal... |
OMIM:614886 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Tented upper lip vermilion, Elevated circulating creatine kinase concentration, Clo... |
OMIM:619424 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam... |
ORPHA:1133 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo... |
OMIM:620152 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia, N... |
ORPHA:2238 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... |
OMIM:616719 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Hepatomegaly, Open bite, Splen... |
ORPHA:61 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, No permanent dentition, Flexion contracture, Gastroesophageal reflu... |
ORPHA:821 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... |
OMIM:611762 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... |
ORPHA:171 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr... |
OMIM:233910 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Hypochromic microcytic ane... |
ORPHA:54028 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine... |
ORPHA:36234 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... |
OMIM:617916 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Esophageal varix, ... |
ORPHA:75233 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome... |
ORPHA:1775 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremo... |
ORPHA:240103 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dystonia, Splenomegaly, Flexion contracture, Dysphagia, Spasticity |
ORPHA:77260 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Failure to thrive, Elevated circulating C-reactive protein concent... |
OMIM:616050 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,... |
OMIM:616589 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... |
ORPHA:469 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Eyelid apraxia, Parkinso... |
OMIM:612953 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Tremor, Gastroesophageal reflux, Ataxia, Abnormal dental enamel morphology, ... |
ORPHA:10 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,... |
ORPHA:2348 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Microcephaly, Gastrointestinal dysmotility, Poo... |
ORPHA:391428 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Ost... |
OMIM:263700 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Premature l... |
OMIM:608612 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:602347 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Cardiomyopathy, Hyp... |
ORPHA:746 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... |
OMIM:619046 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,... |
OMIM:618183 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Esophageal atresia, Congenital ... |
OMIM:226730 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... |
ORPHA:411629 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Intestinal malrotation, Ectopic kidney, Tremor, Abnormality of the spleen, Ost... |
ORPHA:94063 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Microcephaly, Tremor, Rigid... |
ORPHA:391417 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular... |
OMIM:313200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... |
ORPHA:231226 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien... |
ORPHA:79408 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cogn... |
OMIM:617284 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Tremor, Micrognathia, Flexion contracture, Ba... |
OMIM:300055 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux,... |
ORPHA:567 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Abnormal mitral valve morphology, Progressive neurologic deterioration, Tremor, Cryp... |
ORPHA:1192 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... |
OMIM:256550 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, In... |
ORPHA:2457 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Tremor, Flexion contracture, Dysmetria, Renal cyst, Hypoalbuminemia,... |
OMIM:212065 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:613327 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo... |
OMIM:612716 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... |
ORPHA:447 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p... |
ORPHA:352540 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Failure to thriv... |
OMIM:617744 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycem... |
OMIM:229600 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio... |
OMIM:231000 |
Noonan Syndrome 7 |
|
Atrial septal defect, Joint hypermobility, Large for gestational age, Thick vermilion border, Cog... |
OMIM:613706 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane... |
ORPHA:797 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Joint stiffness, Spl... |
OMIM:620210 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplastic ... |
OMIM:253250 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice... |
ORPHA:411634 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp... |
ORPHA:231214 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyr... |
OMIM:610199 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Microcephaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalani... |
OMIM:619170 |
Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Tremor, High palate, Dysphagia |
OMIM:619790 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia, Emotional lability |
OMIM:128235 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... |
ORPHA:314632 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
Ddost-Cdg |
|
Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Tremor, Or... |
ORPHA:300536 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Fl... |
OMIM:226600 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, High, nar... |
ORPHA:3166 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased ... |
ORPHA:276608 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogeusia, Irritability, Decreased serum zinc, Emoti... |
OMIM:201100 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Splenomegaly, Micrognat... |
ORPHA:1046 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Ataxia, Dental crowding, Splenomegaly, Babinski sign, Ol... |
OMIM:616354 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... |
OMIM:215600 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated cir... |
OMIM:612852 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, Hypoc... |
OMIM:218330 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Dystonia, Ataxia, Decreased response to growth hormone stimulation tes... |
ORPHA:289494 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B ly... |
ORPHA:397596 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocyto... |
ORPHA:77293 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, W... |
ORPHA:171876 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Urinary incontinence, Tremor, Depression, Car... |
ORPHA:329478 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia |
ORPHA:212 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, ... |
ORPHA:79263 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Microcephaly, Tremor, Choreoathetosis, Myocl... |
OMIM:312170 |
Classic Phenylketonuria |
|
Microcephaly, Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperacti... |
ORPHA:79254 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Urinary incontinence, Cardiomegaly, Progressi... |
OMIM:268800 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Depression, Joint hyperflexibilit... |
ORPHA:3375 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Irritability, Ci... |
OMIM:613489 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Pre... |
OMIM:618107 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperp... |
OMIM:130650 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Rheumat... |
ORPHA:79128 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Abnormal oral... |
ORPHA:42642 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Dystonia, Mental deteriorati... |
ORPHA:240085 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,... |
OMIM:300534 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yel... |
ORPHA:30391 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ... |
OMIM:617675 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... |
OMIM:226990 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619473 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Mandibular prognathia, Short attention span, Exaggerated startle response, Microcephaly, Chorea, ... |
OMIM:617864 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating creatine kinase concentration, Micrognathia, Secundum atrial septal defect, ... |
OMIM:608779 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Micrognathia,... |
ORPHA:280365 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Abnormal blood ion conc... |
ORPHA:173 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Decreased urinary potassium,... |
ORPHA:79102 |
Tetanus |
|
Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine l... |
ORPHA:3299 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... |
OMIM:171300 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Optic Atrophy 11 |
|
Ataxia, Microcephaly, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, A... |
OMIM:617302 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Hypospadias, Hypoglycemia, Small for gestational age, Cryptorchidism, S... |
OMIM:607143 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Prog... |
OMIM:610333 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... |
ORPHA:228308 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato... |
ORPHA:355 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Microcephaly, Abnormality of the dentition, Es... |
OMIM:613989 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Babinski sign, Osteoporosis, Abnormal pyramidal sign, Ankle clonus, Abnormal circulating ... |
OMIM:213700 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... |
OMIM:228000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Mental deteri... |
OMIM:619051 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O... |
ORPHA:31824 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ... |
OMIM:619534 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Small for gestational age,... |
ORPHA:79332 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal... |
OMIM:312870 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, E... |
OMIM:616028 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Microcephaly, Cryptorchidism, Vel... |
OMIM:192430 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepat... |
ORPHA:381 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... |
OMIM:613011 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Cachexia, Malabsor... |
ORPHA:3452 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Aganglionic megacolon, Malabsorption, Abnormality of... |
ORPHA:175 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Irritability, Hy... |
OMIM:616881 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... |
OMIM:613091 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Recurrent myoglobinuria... |
OMIM:607426 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... |
OMIM:618280 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... |
OMIM:608978 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi... |
OMIM:612651 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Tremor, Overweight, Cranial ... |
ORPHA:457240 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Malabsorption, Tremor, Narrow mouth, Babinski sign, Renal tubular dysfun... |
OMIM:616539 |
Hyperlysinemia |
|
Tremor, Dysmetria, Opisthotonus, Cystinuria, High palate, Gastroesophageal reflux, Clumsiness, Hy... |
ORPHA:2203 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Dysphagia, Focal dystonia, Depression,... |
ORPHA:199351 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, ... |
ORPHA:96092 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transa... |
OMIM:269700 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Tremor, Cryptorchidism, Velopharyngea... |
OMIM:300978 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Microcephal... |
OMIM:300712 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Chronic kidney... |
OMIM:615630 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Glomerulopathy, Proteinuria, Failure to thrive, Cac... |
ORPHA:77297 |
Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Incoordination, Urinary incontinence, Abnormal stomach morphology, Tremor, Abno... |
ORPHA:512 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Dystonia, Ataxia, Incoordination, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Joint stiffness, Elevated circulating creatine kinase concentration, Fasciculations |
ORPHA:209335 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:608594 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gai... |
OMIM:617145 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Vent... |
ORPHA:95706 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tremor, Gastroesophageal reflux, Abnormal dental enam... |
ORPHA:96263 |
Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Decrea... |
OMIM:614867 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Microretrognathia, Microcephaly... |
OMIM:251290 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Dep... |
OMIM:616795 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Gastroesophageal reflux, Decerebrate rigidity, Long philtrum, Atax... |
ORPHA:354 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Thick upper lip vermilion, Increased mean platel... |
OMIM:607330 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Microcephaly, Tremor, He... |
OMIM:312080 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ... |
ORPHA:73224 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ... |
ORPHA:79477 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Limitati... |
ORPHA:93476 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Microcephaly, Micrognathia, Abnormal cardiac ventricle mo... |
ORPHA:2306 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho... |
ORPHA:79278 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Ma... |
ORPHA:1578 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadia... |
ORPHA:163979 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Aspergillosis |
|
Osteomyelitis, Sinusitis, Abnormality of the kidney, Eosinophilia, Hepatitis, Neutropenia, Abnorm... |
ORPHA:1163 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:614921 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Ataxia, Abnormal testis morp... |
ORPHA:100 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub... |
ORPHA:358 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocel... |
ORPHA:391 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur... |
OMIM:252920 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, Tremor, Generalized joint laxity, Dysmetria, Depression, Progressive cerebellar ata... |
ORPHA:502423 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Mental deterioration, Gait ata... |
OMIM:254900 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis... |
ORPHA:77259 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Mitral valve prolapse, Hypocalcemia, Nephropathy |
ORPHA:1563 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Microcephaly, Flexion contracture, Myoclonus, Spasticity, F... |
OMIM:618201 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hepatic fibro... |
OMIM:243800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating creatin... |
OMIM:615356 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys... |
ORPHA:2357 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Long philtrum, Hepatomegaly, Hyp... |
OMIM:222470 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Osteolytic defects of the middle phalanx of the 4th... |
ORPHA:765 |
Distal Duplication 5Q |
|
Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, Microcephaly, Cryptorchid... |
ORPHA:96097 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Microcephaly, Tremor, Micrognathia, Spastic tetraplegia, Ir... |
OMIM:615574 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Gastr... |
ORPHA:442835 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ricket... |
OMIM:613312 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra... |
ORPHA:70594 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microcephaly, Microvesicular hepatic steatosis, Chorea, Prim... |
OMIM:619273 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Acute colitis, Anuria, Diabetes mellitus, Intestinal perforation,... |
ORPHA:544482 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst... |
ORPHA:79404 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Gastroesophageal reflux, Atrial septal defect, Microgastria, Hepatomeg... |
ORPHA:2538 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop... |
OMIM:617591 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Gastroesophageal reflux, Widely spaced... |
OMIM:618268 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic ... |
ORPHA:500095 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Motor deteriorat... |
OMIM:252930 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,... |
OMIM:619418 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Confusion, Ataxia, Hyperkalemia, Slurred speech, Renal tubular ep... |
ORPHA:31826 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Protruding tongue, Joint stiffness, Splenomegaly, Narrow mouth, Progressive... |
OMIM:230600 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
49,Xxxxy Syndrome |
|
Decreased testicular size, Mandibular prognathia, Hypoplasia of penis, Delayed eruption of teeth,... |
ORPHA:96264 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hypotriglyceridemia, Hepa... |
ORPHA:404454 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Hypogeusia, Furrowed t... |
ORPHA:2930 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S... |
ORPHA:1018 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Microcephaly, Carious teeth, Esophageal stricture, Osteoporosis, H... |
OMIM:224230 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Pericarditis, Sinusitis, Cellulitis, Thrombocyt... |
ORPHA:47612 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Ataxia, Proteinuria, Splenomegaly, Jaundice, Myo... |
ORPHA:549 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen... |
OMIM:277400 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Distal Deletion 12Q |
|
Ectopic kidney, Micrognathia, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Microp... |
ORPHA:96149 |
Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thy... |
OMIM:208900 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia,... |
OMIM:615846 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Dental crowding, Recurr... |
ORPHA:394 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Ventricular septal... |
OMIM:618775 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Exaggerated startle response, Tented upper lip vermilion, Micrognathia, Rigidity... |
OMIM:617527 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami... |
ORPHA:397946 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ... |
OMIM:618056 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Oromandibular dystonia, Hypertonia, L... |
ORPHA:2388 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Vocal cord pa... |
ORPHA:64744 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Everted upper lip vermilion, Progressive neurologic deterior... |
OMIM:608013 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Micrognathia, ... |
OMIM:604173 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Yellow-brown discoloration of the teeth, Gastroesophageal reflux, Widely spaced teeth, Am... |
OMIM:619229 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Oligodontia |
|
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... |
ORPHA:974 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ... |
ORPHA:79409 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intra... |
OMIM:614866 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Microcephaly, Esophageal atresia, Muscular ventricular... |
OMIM:619227 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferrit... |
OMIM:222700 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase |
ORPHA:397744 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Nephroblast... |
ORPHA:276280 |
Desmosterolosis |
|
Increased bone mineral density, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia,... |
ORPHA:35107 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... |
ORPHA:69665 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Atr... |
OMIM:620327 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Microcephaly, Tremor, Splenomegaly... |
ORPHA:525731 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Hypernatriuria, Hyposthenuria, Decreased... |
OMIM:300539 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Chorea,... |
ORPHA:268 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Microcephaly, Tremor, Micrognathia, Trismus, Flexion contracture, ... |
OMIM:616271 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Flexion contracture, Widely spaced teeth, Microdontia, Hepatomegaly, Ataxia, Micronodular cirrhos... |
OMIM:301072 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression, Thick vermilion border, Gastroesophageal reflux, Macrod... |
OMIM:620114 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Bifid uvula, Syno... |
OMIM:101200 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Hypoal... |
ORPHA:14 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Clonus, Microcephaly, Flexion contra... |
OMIM:617301 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Tented upper lip vermilion, Ataxia, Thin uppe... |
ORPHA:438216 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Splenomegaly, Increased urinary... |
ORPHA:812 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Confusion, Urinary incontinence, Dysuria, Tremor, ... |
ORPHA:79276 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, He... |
OMIM:243910 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... |
OMIM:615512 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Cardiac ... |
ORPHA:85451 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hyperto... |
ORPHA:85212 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Cardiomyopat... |
ORPHA:79255 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Abnormal pyramidal sign, Dysphagia, Dysme... |
OMIM:614381 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, D... |
OMIM:619738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Urinary incontinence, Chorea, Babinski sign, Progressive psychomotor deteri... |
ORPHA:309271 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Nephrotic... |
OMIM:609049 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level... |
ORPHA:438274 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Microcephaly, Conjugated hyperbilirubinemia, Splenomegaly... |
OMIM:608885 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Depression, Opisthotonus, Myoclonic sp... |
OMIM:184850 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Hypoglycemia... |
ORPHA:3008 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Micrognathia, Splenomegal... |
OMIM:261515 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly, Myoclonus, Spasticity |
ORPHA:309155 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphy... |
ORPHA:79277 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... |
OMIM:610505 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Redu... |
ORPHA:556955 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Thrombocytopeni... |
OMIM:606003 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... |
OMIM:618886 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Fetal ascites, Sple... |
OMIM:257220 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a... |
ORPHA:57777 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestationa... |
OMIM:229850 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Inguinal hernia, Ataxia, Hypospadias, Small for gestational age, Tremor, Crypt... |
OMIM:614052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Tented upper lip vermilion... |
ORPHA:521426 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Progressive gait ataxia, Gastroesophageal reflux, H... |
ORPHA:191 |
Trisomy 18 |
|
Omphalocele, Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:3380 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia |
ORPHA:99745 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Renal insufficienc... |
ORPHA:713 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Progressive psychomotor deterioration, Abnormal pyramidal sign, Premature loss of tee... |
ORPHA:909 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Urinary incontinence, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegi... |
OMIM:105210 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... |
OMIM:265380 |
Macrocephaly/Autism Syndrome |
|
Speech apraxia, Hepatomegaly, Short attention span, Joint laxity, Penile freckling, Large for ges... |
OMIM:605309 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Hurler Syndrome |
|
Progressive neurologic deterioration, Flexion contracture, Hernia, Endocardial fibroelastosis, Mi... |
OMIM:607014 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Tremor, Hypertrophy of the urinary bladder, High palate, Gastroesopha... |
ORPHA:280633 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Microcephaly, Abnormality of the dentition, B... |
OMIM:616553 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Atrial septal defect, ... |
ORPHA:438213 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Comp... |
OMIM:617925 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:252900 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ... |
OMIM:128100 |
Sialuria |
|
Smooth philtrum, Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Splenomegaly, Poor fine... |
OMIM:269921 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tented upper lip vermilion, Hypospadias, Ventricular sept... |
ORPHA:464738 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro... |
OMIM:240300 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Tricuspid steno... |
ORPHA:391641 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Short attention span, Hypoglycemia, Malar flattening, Cleft lip, Limited elbow exte... |
OMIM:301066 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Esophageal stricture, Osteoporosis, Cheilitis, Recurrent aphthous stom... |
OMIM:615468 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Eso... |
OMIM:227646 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Ataxi... |
ORPHA:1454 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial sept... |
OMIM:613610 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss, Hypokalemia, Goiter |
OMIM:613239 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Tremor, Progressive neurologic deterioration, Chorea, Abno... |
ORPHA:646 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Her... |
ORPHA:955 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Memory impairment, Gait ataxia, Bradykin... |
OMIM:137440 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Thick lower lip vermil... |
ORPHA:583 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyp... |
OMIM:600001 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Microcephaly, A... |
OMIM:164280 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia, Splenomegaly |
ORPHA:3035 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis... |
ORPHA:1304 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, Microgn... |
ORPHA:506358 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Tremor, Chorea, Dow... |
OMIM:601808 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... |
OMIM:607626 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Cachexia, Paralysis, Abnormality of the spleen, Thrombo... |
ORPHA:2072 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T... |
ORPHA:90051 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb... |
ORPHA:521219 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly... |
OMIM:230000 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Ab... |
ORPHA:1335 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph... |
ORPHA:416 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Scarring, Abnormal circulating porphyrin concentrati... |
ORPHA:95159 |
Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide m... |
ORPHA:93474 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Abnormal... |
OMIM:309900 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Tremor, Reduced bone mineral density, Lobulated tongue, High palate, Multicystic ki... |
ORPHA:2750 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cerebral palsy, Osteomyelitis, Peptic ulcer, Elevated ... |
ORPHA:2796 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... |
OMIM:214800 |
Feingold Syndrome |
|
Microcephaly, Micrognathia, Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annul... |
ORPHA:1305 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Microgn... |
OMIM:614080 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Tremor, Thrombocytopenia, Osteoporosis, Abnormal pyramidal sign, Increased su... |
OMIM:612199 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Eosinophil... |
OMIM:615816 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe... |
OMIM:300972 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Urinary incontinence, Microcephaly, Tremor, Head titubation, Rigidity, Truncal atax... |
OMIM:618877 |
Tick-Borne Encephalitis |
|
Speech apraxia, Elevated hepatic transaminase, Incoordination, Stiff neck, Elevated circulating C... |
ORPHA:297 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Adenoiditis, Cardiomegaly, Flexion contracture, Abnormal py... |
ORPHA:581 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Hemipl... |
ORPHA:3157 |
Rhombencephalosynapsis |
|
Microretrognathia, Ataxia, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, ... |
ORPHA:59315 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... |
ORPHA:53715 |
Cockayne Syndrome A |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Micropenis, Loss of ... |
OMIM:216400 |
Opsismodysplasia |
|
Renal phosphate wasting, Long philtrum, Hypophosphatemia |
OMIM:258480 |
Fanconi Anemia, Complementation Group Q |
|
Microcephaly, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed... |
OMIM:615272 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Gastrointestinal dysmotility, Renal cyst, Hypertonia, Hypoalbumine... |
OMIM:270400 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus |
OMIM:614618 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic ... |
ORPHA:2909 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Megaloblastic a... |
OMIM:222300 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Microcephaly, Micrognathia, Cleft lip, Limitation of joint mobility... |
ORPHA:97297 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Joint stiff... |
ORPHA:809 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Alström Syndrome |
|
Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati... |
ORPHA:64 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D... |
OMIM:272750 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Mandibular prognathia, Ataxia, Protruding... |
ORPHA:98794 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Microce... |
OMIM:620330 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Glutaric aciduria, Chro... |
ORPHA:25 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Tented upper lip vermilion, Facial-lingual fasciculations, Microcep... |
OMIM:617281 |
Stiff Person Spectrum Disorder |
|
Rigidity, Emotional lability, Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ... |
OMIM:614162 |
Dyskeratosis Congenita, X-Linked |
|
Leukopenia, Premature loss of teeth, Ataxia, Hypospadias, Cryptorchidism, Osteoporosis, Anemia, A... |
OMIM:305000 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus |
OMIM:614619 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Ataxia, Proteinuria, Mitral valve cal... |
ORPHA:77261 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Cockayne Syndrome B |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Micropenis, Loss of ... |
OMIM:133540 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Prematu... |
ORPHA:2908 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic ductal pl... |
OMIM:249000 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Micropeni... |
ORPHA:51 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Babinski sign, Flexion contracture, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Progressive neurologic deterioration, Rigidity, Splenomegaly, Trismus, Anemia, Hype... |
OMIM:230900 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, P... |
OMIM:607625 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hypocalcemic seizures, Osteopetr... |
OMIM:612301 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... |
ORPHA:774 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... |
OMIM:608800 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Microcephaly, Leukopenia, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... |
OMIM:612541 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Mercury Poisoning |
|
Confusion, Tremor, Hypokalemia, Dystonia, Acute kidney injury |
ORPHA:330021 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, Deep philtrum, Cleft p... |
OMIM:610536 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Tremor, Neuromuscular... |
ORPHA:240071 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Micrognathia, Tremor, Microvesicular hepatic steatosis, Aortic valve atres... |
OMIM:220111 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, H... |
ORPHA:83617 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Kallmann Syndrome |
|
Hypoplasia of penis, Ataxia, Renal agenesis, Recurrent fractures, Tremor, Cryptorchidism, Obesity... |
ORPHA:478 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Splenomegal... |
OMIM:613471 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Microcephaly, Cryptorchidism, ... |
ORPHA:264450 |
Trisomy 10P |
|
Absent gallbladder, Poor motor coordination, Abnormality of the kidney, Small for gestational age... |
ORPHA:171929 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ... |
ORPHA:379 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membra... |
OMIM:619525 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Intestinal obstruction, Pericarditis, Elevated circulating C-reactive protein concentr... |
ORPHA:32960 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Tremor, Cryptorchidism, Abnormality of the dentition, Thick lower lip vermilion, Pi... |
OMIM:617557 |
Progressive Supranuclear Palsy |
|
Dystonia, Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairme... |
ORPHA:683 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Renal agenesis, Ventricular septal defect, Esophageal atresia, Tracheoesophageal... |
OMIM:300514 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, Abnormal renal morphol... |
ORPHA:2209 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Hyperammonemia, Organic aciduria |
OMIM:253260 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Urinary urgen... |
OMIM:168600 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Congenital malformatio... |
ORPHA:3455 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft pal... |
OMIM:614083 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Anal... |
OMIM:250250 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum |
OMIM:614526 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Ataxia, Hypospadias, Hypoglycemia, Microcephaly, Sp... |
OMIM:252010 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, E... |
ORPHA:99921 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu... |
ORPHA:320406 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... |
OMIM:214500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys... |
OMIM:619183 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, Tremor, High, narrow palate, Pineal cyst, Gastroesophageal reflux,... |
OMIM:300967 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Microcephaly, Esophageal atresia, Unilateral vocal cord paralysis, Tra... |
OMIM:301030 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Alternating Hemiplegia Of Childhood |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmoti... |
ORPHA:2131 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p... |
OMIM:617140 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Allodynia, Abn... |
ORPHA:252164 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Generaliz... |
ORPHA:50918 |
Hyperekplexia 1 |
|
Exaggerated startle response, Inguinal hernia, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... |
OMIM:149400 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrapleg... |
ORPHA:58 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Microcephaly, Leukocytosis, Flexion contracture, Renal... |
OMIM:619321 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Confusion, Leukoc... |
ORPHA:3260 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... |
ORPHA:90324 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Hypospadias, Tracheoesophageal fistula |
ORPHA:1923 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia |
OMIM:272800 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Ataxia, Cachexia, Carious teeth, Splenomegaly, Abnormal ... |
ORPHA:1328 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Abnormal mitral valve morphology, Craniosynostosis, Limited wri... |
ORPHA:576 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets |
OMIM:208000 |
Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Abnormal tricuspid valve morphology, Hepatomegaly, Temporom... |
ORPHA:580 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Serotonin Syndrome |
|
Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Hepatic failure, Mental... |
ORPHA:43116 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hepatomegaly, Hyperextensibility of the finger joints, Delayed eruption of... |
OMIM:135500 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:36426 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... |
ORPHA:733 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver dis... |
OMIM:612284 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Ataxia, Keto... |
ORPHA:466677 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia, Cryptorchidism, ... |
ORPHA:77298 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, Esophage... |
ORPHA:3412 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Lipoma, Nephroblastoma |
OMIM:612918 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepato... |
ORPHA:99827 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p... |
ORPHA:3310 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia... |
ORPHA:373 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Ataxia, Spasticity, Downturned corners of mouth, Short philtrum, Dysphagia, ... |
OMIM:615510 |
Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomal... |
ORPHA:95430 |
Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s... |
ORPHA:273 |
Behçet Disease |
|
Abnormal pyramidal sign, Oral ulcer, Glomerulopathy, Ataxia, Confusion, Lymphadenopathy, Renal in... |
ORPHA:117 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Intestinal obstruction, Pericarditis, Proteinuria, Malabsorption, Orchitis... |
ORPHA:342 |
Cocaine Intoxication |
|
Proteinuria, Elevated circulating creatine kinase concentration, Involuntary movements, Glomerulo... |
ORPHA:90068 |
Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Diabetes mellitus, Hypospadias, Lack of facial subcutaneous fat, Small for g... |
OMIM:176690 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... |
OMIM:619522 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cleft upper lip, Congenit... |
ORPHA:93271 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Gingivitis, Perio... |
OMIM:173650 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Malabsorption, Join... |
ORPHA:93 |
Listeriosis |
|
Pericarditis, Liver abscess, Ataxia, Stiff neck, Osteomyelitis, Tremor, Myocarditis, Jaundice, Pe... |
ORPHA:533 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dilated cardiomyopathy, Weigh... |
OMIM:164310 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula |
OMIM:619859 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micro... |
OMIM:261540 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Urinary incontinence, Acanthocytosis, Tremor, Rigidity, Bab... |
OMIM:234200 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... |
ORPHA:2729 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Ataxia, Microcephaly, Tremor, Flexion... |
ORPHA:86309 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Microcephaly, Exocrine pancreatic insufficiency, E... |
OMIM:618500 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Microcep... |
OMIM:206900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233690 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Dysphagia, 3-Methylglutaric aciduria, Hypertonia, 3-Methylglu... |
OMIM:617248 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ventricular septal defect, Ectopic kidney, Esophage... |
OMIM:192350 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... |
OMIM:181000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesoph... |
ORPHA:500150 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy... |
OMIM:615530 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Microcephaly, Irritability, Hypertonia, Dysphagia, Spasticity |
OMIM:618367 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Mi... |
ORPHA:3186 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Abnormal central motor function, Pericarditis, Involuntary mov... |
ORPHA:3385 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Ring Chromosome 13 Syndrome |
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Hypoplasia of the gallbladder, Hypospadias, Microcephaly, Micrognathia, Urogenital sinus anomaly,... |
ORPHA:96176 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Cachexia, Cardiomegaly, Left atrial... |
ORPHA:75565 |
Leiomyoma Of Vulva And Esophagus |
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Esophageal obstruction |
OMIM:150700 |
Supranuclear Palsy, Progressive, 1 |
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Axial dystonia, Limb dystonia, Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irri... |
OMIM:601104 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Barrett Esophagus |
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Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Steinfeld Syndrome |
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Absent gallbladder, Abnormal heart morphology, Unilateral renal dysplasia, Bifid uvula, Median cl... |
OMIM:184705 |