Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Cognitive impairment, Reduced bone mineral density |
ORPHA:172 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Hypocalcemia, Anemia |
ORPHA:100025 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Hypophosphatemia |
OMIM:600740 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... |
OMIM:232700 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coord... |
ORPHA:363400 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Confusion, Depression, Irritability, Hyperphosphatemia,... |
ORPHA:36913 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Hyperpigmentation of the skin, Hypokalemia, Hypocalcemia, Nail dysplasia, Hyp... |
OMIM:175500 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Microcephaly, Tremor, Micrognathia, Flexion contracture, Hypertonia, Hypoproteinemia |
OMIM:608093 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminemia, Thromb... |
OMIM:209950 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Diabetes mellitus, Dextrocardia, Microcephaly... |
ORPHA:2315 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Flexion contracture, Elevated circulating creatine kinase concentration, Abnor... |
OMIM:160565 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemi... |
ORPHA:93160 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... |
OMIM:259700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Melanocytic nevus, Anemia, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations |
OMIM:615048 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... |
ORPHA:26793 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Joint stiffness, Ectopia pupillae, Cognitive impairment |
ORPHA:1885 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
X-Linked Agammaglobulinemia |
|
Alopecia, Osteomyelitis, Hypopigmented skin patches, Anemia, Arthritis, Conjunctivitis, Hypocalce... |
ORPHA:47 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Malar prominence, Micrognathia, Insulin-resistant diabe... |
ORPHA:436182 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Hypercalcemia, Irritability, Anemia |
ORPHA:436 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T... |
OMIM:616267 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit... |
ORPHA:848 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
OMIM:242150 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthr... |
ORPHA:247353 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany |
OMIM:612462 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypocalcemia |
ORPHA:163693 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Alg6-Cdg |
|
Ataxia, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Hypoalbuminemia, Failure to ... |
ORPHA:79320 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Microcephaly, Hypoalbuminemia, Mental deterioration, ... |
OMIM:617575 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy... |
OMIM:259720 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Ir... |
OMIM:620086 |
Hereditary Fructose Intolerance |
|
Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Depression, Hyperphosphat... |
ORPHA:428 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:264700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Depression, Irritabil... |
ORPHA:94089 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Micrognathia, Splenomegaly, Wide nasal ... |
OMIM:235255 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia |
ORPHA:75563 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adip... |
ORPHA:528 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Developmental cataract, Hyperphosphat... |
OMIM:127000 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Osteoporosis, Rickets, Depression, Iron deficiency anemia, Hypocalce... |
OMIM:212750 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Ir... |
ORPHA:289157 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Hypomagnesemia |
OMIM:619908 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Hy... |
ORPHA:90041 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia, Microcephaly |
OMIM:618349 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
Gracile Bone Dysplasia |
|
Asplenia, Hypocalcemia, Aniridia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Corneal erosion, Flexion contr... |
ORPHA:89842 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529799 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Dementia, Abnorma... |
ORPHA:79262 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Microcephaly, Insulin-resistant diabetes mellitus,... |
ORPHA:401768 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Nail dystrophy, H... |
OMIM:615895 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Spastic tetraparesis, Microcephaly, Pericardial effusion, Osteoporosi... |
OMIM:619487 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Depression, Focal... |
ORPHA:216873 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Hemochromatosis, Type 3 |
|
Hyperpigmentation of the skin, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Galloway-Mowat Syndrome 6 |
|
Epicanthus, Microcephaly, Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Hemochromatosis, Type 2B |
|
Hyperpigmentation of the skin, Splenomegaly, Elevated transferrin saturation, Increased circulati... |
OMIM:613313 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai... |
OMIM:607624 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph... |
OMIM:618329 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
Rhabdoid Tumor |
|
Thrombocytopenia, Irritability, Hypercalcemia, Anemia |
ORPHA:69077 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Highly... |
OMIM:620157 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, C... |
OMIM:603552 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart... |
OMIM:606069 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Hjv Or Hamp-Related Hemochromatosis |
|
Generalized hyperpigmentation, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level |
OMIM:612126 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis |
ORPHA:1655 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... |
ORPHA:31824 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Microcephaly, Splenomegaly, Synophrys, Flexion contracture... |
OMIM:617303 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Elevated circulating creatine ki... |
OMIM:300280 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Failure to thrive, Ataxia, Microcephaly, Pericardial effu... |
OMIM:212065 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Primary microcephaly |
OMIM:618010 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ... |
OMIM:618476 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98853 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... |
ORPHA:64743 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt... |
OMIM:608104 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Progressive microcephaly, Abnormal heart morphology |
ORPHA:79327 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
OMIM:615381 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Developmental cataract, Hypocalcemia, Abnormality of the frontal hairline |
ORPHA:557003 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre... |
OMIM:241200 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Low anterior hairline, Elbow flexion contracture, Low posterior hair... |
OMIM:618440 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98863 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... |
ORPHA:292 |
Dahlberg-Borer-Newcomer Syndrome |
|
Anonychia, Hypocalcemia, Generalized hirsutism, Cataract |
ORPHA:1563 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemipares... |
OMIM:614307 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:37042 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... |
OMIM:617013 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Hypotri... |
ORPHA:85167 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Hypertriglyceridemia, Synophrys, Wide nasal bridge, In... |
OMIM:182290 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Gitelman Syndrome |
|
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... |
ORPHA:29073 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Microcephaly, Tremor, Choreoathetosis, Irritabili... |
OMIM:261630 |
Abcd Syndrome |
|
White eyelashes, Polycythemia, White eyebrow, Albinism |
OMIM:600501 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair, Fine hair, I... |
OMIM:222470 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, De... |
ORPHA:819 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Clon... |
OMIM:619055 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Small for gestational age, Ataxia, Hiatus hernia, Microcephaly, Micrognathi... |
OMIM:251300 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Increased serum iron, B... |
ORPHA:446 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Tetraplegia, Gait disturbance, Fasciculations, Hyperglycemia, Mildly... |
OMIM:604484 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Mpi-Cdg |
|
Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Hypocalcemia |
OMIM:606407 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98855 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion, Elevated circulatin... |
ORPHA:36234 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Cataract, Confusion, Depression, Irritability, Hyperp... |
ORPHA:79444 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Elevated circulating creatine kinase concentration, Abnormal retinal morphology, Action t... |
ORPHA:254886 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Aceruloplasminemia |
|
Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Dementia,... |
OMIM:604290 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Microcephaly, Poor coordination, Optic atrophy,... |
ORPHA:391428 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Low anterior hairline, T lymphocytopenia, Contracture of the proximal inte... |
OMIM:618223 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Spastic... |
ORPHA:251282 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Microcephaly, Hyperammo... |
ORPHA:1667 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... |
OMIM:241500 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abn... |
ORPHA:3124 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... |
OMIM:614702 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Corneal opacity, Craniosynostosis, Onychogryposis, Depig... |
ORPHA:79396 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... |
ORPHA:90117 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholestero... |
OMIM:616730 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Microcephaly, Tremor, Astigmatism, Gait disturbance, Myoclonus, Cognitive ... |
OMIM:617284 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Epicanthus, Micrognathia, Muscular ventricular septal defect, B... |
ORPHA:79324 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:2348 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... |
ORPHA:352540 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal hair morphology, Bone cyst, Limitation of joint mobility, Osteolysis, Irr... |
ORPHA:2591 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Patchy osteosclerosis, Hyperphosphatemia, Astigmatism, Hypocalcemia |
ORPHA:2323 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Cognitive impairment, Hypoc... |
OMIM:103580 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level |
OMIM:615238 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... |
OMIM:618387 |
Xfe Progeroid Syndrome |
|
Cachexia, Microcephaly, Poor coordination, Optic atrophy, Absence of subcutaneous fat, Corneal sc... |
OMIM:610965 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Myopathy With Extrapyramidal Signs |
|
Elevated circulating creatine kinase concentration, Clonus, Tremor, Chorea, Choreoathetosis, Extr... |
OMIM:615673 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... |
OMIM:277460 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Livedoid Vasculopathy |
|
Pancytopenia, Hyperpigmentation of the skin, Leukocytosis, Hyperpigmented streaks, Hyperhomocysti... |
ORPHA:542643 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Micrognath... |
OMIM:616222 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypopla... |
OMIM:253250 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Cataract, Confusion, Band keratopathy, Reduced bone m... |
ORPHA:79443 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat... |
OMIM:300438 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Hypera... |
OMIM:212140 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... |
ORPHA:79477 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypoglycemia, Ataxia, Camptodactyly of finger, Micrognathia, Malar prominence, Osteopor... |
ORPHA:48431 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Irritability, Hypertrophic ... |
ORPHA:369 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Cataract, Blue irides, Depression, Irritability, Attention defici... |
OMIM:261600 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Irritability, Abnormal circu... |
ORPHA:1578 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Depression, Gait ataxia, ... |
ORPHA:254881 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... |
OMIM:159950 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Depression, Attention deficit hyperactivity disorder, Hyperph... |
ORPHA:79254 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, ... |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Mandibular prognathia, Waddling gait, Tremor, Inability to walk, Narrow palpebral fissure, Emotio... |
OMIM:616269 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
OMIM:151660 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:79083 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
ORPHA:280365 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Epicanthus, Pericardial lymphangiectasia, Ventricular septal defect, P... |
OMIM:235510 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia |
OMIM:245900 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Rigidity, Inability to walk, Optic atrophy, Irritability, Athetosis, Secondary micr... |
OMIM:618241 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Microcephaly, Hyperprolinemia, Perimembranous ventricular septal... |
OMIM:619170 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Mental de... |
OMIM:254900 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defe... |
OMIM:619991 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Inability to walk, Short nose, Opti... |
ORPHA:505248 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, M... |
OMIM:607317 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom... |
ORPHA:42 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Ectropion, Ataxia, Obesity, Cardiomyopathy, Abnormal circulat... |
ORPHA:98907 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:79085 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Microcephaly, S... |
OMIM:251880 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Leukonychia, Sclerosis of skull base, Thrombocyto... |
ORPHA:2905 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Flexion contracture, Hepatosplenomegaly, Abnormal cardiomyo... |
ORPHA:367 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia, Recurrent sinusitis |
OMIM:620282 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity |
OMIM:617885 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased serum iron, Hype... |
OMIM:602390 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, Reduced bone mi... |
ORPHA:667 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Ri... |
ORPHA:2088 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... |
OMIM:613327 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Speech apraxia, Cataract, Small for gestational age, Hyp... |
ORPHA:79237 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Progressive neurologic deterioration, Splenomegaly, Retin... |
OMIM:219800 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... |
ORPHA:79240 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Hyperpigmentation of the skin, Splenomegaly, Hypomagnese... |
ORPHA:699 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Progressive psychomotor deterioration, Incr... |
ORPHA:251004 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Progressive neurologic deterioration, Parkinsonism, ... |
OMIM:261640 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the max... |
OMIM:166300 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Sparse eyebrow, Neutropenia, ... |
ORPHA:175 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Retinal detachment, Microretrognathia, Hypertriglyceridemia, Diabetes me... |
OMIM:617253 |
Refsum Disease, Classic |
|
Cataract, Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy,... |
OMIM:266500 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:79086 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, O... |
ORPHA:1764 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Microcephaly, Wide nasal bridge, Hyperbilirubinemia, De... |
OMIM:614886 |
Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Cataract, Osteoporosis, Reduced... |
OMIM:277700 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes |
OMIM:615877 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceride... |
OMIM:203800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp... |
OMIM:277440 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, ... |
OMIM:613658 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... |
ORPHA:54057 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge,... |
OMIM:618302 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Developmental cataract, Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Hyperp... |
ORPHA:93325 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Hypoplasia of the maxilla, Babinski sign, Spastic paraplegia, Tetraplegia,... |
OMIM:300266 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Hiatus hernia, Microcephaly, Micrognathia, Hypoalbuminemia, Camptodactyly, Spasticity... |
OMIM:617729 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Hepatosplenomegaly, Depression, Dementia... |
ORPHA:444490 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Early balding, Anemia |
OMIM:121270 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Hepatosplenomegaly, Ey... |
ORPHA:2590 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Frontal balding, Hyperkalemia, Hypochloremia, Hirsutism |
ORPHA:90794 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Cataract, Hypoglycemia, Ataxia, Incoordination, Postural tremor, Os... |
ORPHA:79239 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, ... |
OMIM:617675 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Ptosis |
OMIM:619473 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia... |
OMIM:618093 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste... |
ORPHA:442835 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Corneal opacity, Craniosynostosis, Congenital diaphragmatic hernia, ... |
ORPHA:2409 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Micrognathia, Babinski sign... |
OMIM:300055 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Microcephaly, Tremor, Wide nasal bridge, Cho... |
OMIM:312170 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Epicanthus, Cataract, Pericallosal lipoma, Hypoplasia of the maxilla, H... |
OMIM:136760 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Mental deteri... |
OMIM:619051 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Anemia, Le... |
ORPHA:2785 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Microcephaly, Tremor, Inability to walk, Wide nasal bridge, Retrognathia, Astigmatism, Hy... |
OMIM:619556 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Lipodystrophy, Familial Partial, Type 7 |
|
Clonus, Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased a... |
OMIM:606721 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158057 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concentration, Osteoporosis... |
ORPHA:261476 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelas... |
OMIM:619064 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila... |
OMIM:618120 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, E... |
OMIM:256550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Microcephaly, Hyperammonemia, ... |
OMIM:615160 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigment... |
ORPHA:79095 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Microcephaly, Abnormal circulating glycine concentration, Abnormal circulating tyro... |
ORPHA:79096 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short attention span, Small for gestational age, Hypoglycemia, Microce... |
ORPHA:73272 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Ataxia, Microcephaly, Micrognathia, Wide nasal bridge, Hypo... |
ORPHA:2479 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Ventricular septal defect, Small for gestational age, Spastic tetraparesis, Hypoplasia of... |
OMIM:614261 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... |
OMIM:619165 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Ataxia,... |
ORPHA:2394 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Failur... |
ORPHA:1617 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Ataxia, Microcephaly, Micrognathia, Poor coordination, Wide... |
OMIM:249310 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
ORPHA:370959 |
Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... |
ORPHA:3163 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Microcephaly, Inability to walk, Optic atrophy, Hyperammonemia, Abnormality of extr... |
OMIM:614739 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:269700 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Upslan... |
ORPHA:93950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Synophrys, Optic atrophy, Upslanted palpebral fissure, Progressive mic... |
OMIM:618737 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Microcephaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambul... |
OMIM:615010 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, Hy... |
ORPHA:199299 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Ventricular septal defect, Mac... |
OMIM:619418 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Microtriplication 11Q24.1 |
|
Keratoconus, Speech apraxia, Microcephaly, Hyperlipidemia, Synophrys, Obesity, Upslanted palpebra... |
ORPHA:289522 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hyperostosis, Limbal dermo... |
ORPHA:2969 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... |
ORPHA:231226 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia |
ORPHA:85443 |
Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Cerebral palsy, Ataxia, Microcephaly, Tremor, Osteolytic defects of the middle phalan... |
ORPHA:765 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
H Syndrome |
|
Abnormal eyebrow morphology, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Osteolysis, ... |
ORPHA:168569 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopen... |
ORPHA:163979 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Rieger anomaly, Highly arched eyebrow, Abnormal sternal ossif... |
OMIM:194190 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Astigmatism, Hypomagnesemia |
OMIM:248190 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Telecanthus, Hyperopic astigmatism, Hypoplasia of the maxilla, Obesity, Bl... |
ORPHA:397973 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration |
OMIM:618398 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Ataxia, Tremor, Splenomegaly, Flexion contracture... |
ORPHA:87876 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Epicanthus, Short attention span, Highly arched eyebrow, Microcephaly, Tremor, Micr... |
OMIM:618342 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Diabetes mellitus, Widened atr... |
ORPHA:536532 |
Revesz Syndrome |
|
Aplastic anemia, Progressive neurologic deterioration, Leukocoria, Nail pits, Fine hair, Nail dys... |
OMIM:268130 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo... |
OMIM:612716 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:608594 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:167730 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... |
ORPHA:329478 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, O... |
ORPHA:412 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Optic atrophy, Slurred speech, Flexion contracture, Clumsi... |
ORPHA:137898 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi... |
OMIM:600785 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr... |
ORPHA:186 |
Fumarase Deficiency |
|
Conjunctival icterus, Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Sinusitis, Splenomegaly, Flexion contracture, ... |
OMIM:617591 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Optic disc pallor, Epicanthus, Tremor, Retrobulbar optic neuritis, Obesity, He... |
OMIM:619737 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional l... |
ORPHA:179494 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... |
ORPHA:231214 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... |
ORPHA:466650 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Distal Xq28 Microduplication Syndrome |
|
Microcephaly, Hypoplasia of the maxilla, Depression, Upper eyelid edema, Tip-toe gait, Attention ... |
ORPHA:293939 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Epicanthus, Microcephaly, Tremor, Micrognathia, Synophrys, Obesity, Spastic diplegia, Long eyelas... |
ORPHA:480907 |
Peroxisome Biogenesis Disorder 5B |
|
Retinal dystrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentratio... |
OMIM:614867 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... |
ORPHA:54 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Obesity, Depression, Memory impairment, Hyperostosis frontalis i... |
ORPHA:77296 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Congenital diaphragmatic hernia, Microcephaly, Tremor, Micrognathia, Blue iride... |
OMIM:300978 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveiti... |
ORPHA:91500 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, ... |
OMIM:233910 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Ptosis, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Ele... |
OMIM:619424 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Hypoplasia of the maxilla, Inability to walk, Flexion contracture, Limb tremor, Wide nasa... |
OMIM:218000 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Inguinal hernia, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:915 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Mitr... |
ORPHA:90653 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment |
ORPHA:364 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
20P12.3 Microdeletion Syndrome |
|
Epicanthus, Hypoplasia of the maxilla, Wide nasal bridge, Atrial septal defect, Malar flattening,... |
ORPHA:261295 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Inguinal hernia, Epicanthus, Prominence of the premaxilla, Wide nasal bridge, Abnormal cardiac se... |
ORPHA:2412 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Hypocalcemia |
ORPHA:746 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... |
OMIM:618156 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Progressive neurologic deterioration, Large for gestational age, Abnormal circulati... |
ORPHA:263455 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Hypoplasi... |
OMIM:248370 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait a... |
ORPHA:289494 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Cardiomegaly, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyram... |
OMIM:105210 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Microcornea, Ataxia, Abnormal dental enamel morphology, Cran... |
ORPHA:2710 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar... |
OMIM:619313 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Hyponatremia, Ost... |
ORPHA:534 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... |
OMIM:615631 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Mi... |
ORPHA:858 |
Cantu Syndrome |
|
Epicanthus, Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for... |
OMIM:239850 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... |
OMIM:156400 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
Velocardiofacial Syndrome |
|
Emotional lability, Posterior embryotoxon, Hypocalcemia |
OMIM:192430 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodyst... |
OMIM:608154 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Lacrimal duct atresia, Blepharophimosis, Shor... |
ORPHA:1529 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Microc... |
OMIM:312080 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
Hypomagnesemia 3, Renal |
|
Astigmatism, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Epicanthus, Inguinal hernia, Ataxia, Abnormal dental enamel... |
ORPHA:10 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Wide nasal bridg... |
ORPHA:369837 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased ... |
ORPHA:276608 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Cystinosis |
|
Corneal opacity, Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Axillary freckling, Cafe-au-lait spot, Hypercalcemia |
OMIM:171420 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Carious teeth, Hyperlipidemia, Oste... |
ORPHA:79259 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Atrial septal defec... |
OMIM:617744 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Hyp... |
ORPHA:79474 |
Ethylene Glycol Poisoning |
|
Confusion, Hyperkalemia, Hypocalcemia, Euphoria |
ORPHA:31826 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Conjunctival icterus... |
OMIM:194380 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatomegaly, Splenomegaly, Osteoporosis, Uveitis, Hepatosplenomegaly, Weight loss, D... |
ORPHA:171 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Slow-growing hair, Thin nail, Sagittal craniosynostosis, Short nail, Osteoporosis, ... |
OMIM:218330 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Hypoplasia of the maxilla, Inability to walk, Flexion contracture, Upslanted palpebral fi... |
ORPHA:481152 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Sparse axillary hair, Splenomegaly, Hypocalcemia, Lymp... |
ORPHA:2136 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Unsteady gait, Hypopla... |
OMIM:210000 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Ptosis |
OMIM:619790 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Telecanthus, Ventricular septal defect, Small for gestational age, Cardiomegaly, Micr... |
OMIM:616897 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Sparse axillary hair, Thiamine-responsive megalob... |
ORPHA:85138 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic arthritis, Throm... |
ORPHA:544482 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Micrognathia, Lon... |
OMIM:257850 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Cataract, Hypoglycemia, Elevated circulating creatine kina... |
OMIM:608836 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigid... |
ORPHA:70594 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Failu... |
ORPHA:2089 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased cir... |
ORPHA:95409 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity |
ORPHA:66628 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
ORPHA:465508 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Hepatomegaly, Epicanthus, Cataract, Ventricular septal defect, Microcephaly, M... |
OMIM:270400 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A... |
OMIM:619127 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Microcornea, Atrial septal defect, Sagittal craniosynost... |
OMIM:201000 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Obesity, Cardiomyopathy, Abnormal circulat... |
ORPHA:98908 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Buphthalmos, Congen... |
OMIM:613150 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Chorioretinitis, Abn... |
ORPHA:199276 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Babinski sign, Optic atrophy, Unsteady gait, Limb ataxia, Gait ataxia, Depr... |
OMIM:619259 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ventricular septal defect, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Micr... |
OMIM:619312 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Tremor, Dysmetria, Depression, Pigmentary retinopathy, Progressi... |
ORPHA:502423 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Hepato... |
OMIM:278000 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Type I diabetes melli... |
ORPHA:1192 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Se... |
ORPHA:79113 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Hyperpigmentation of the skin, Abnormal erythrocyte... |
ORPHA:101330 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Downslanted palpebral... |
ORPHA:79076 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... |
ORPHA:254892 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia |
OMIM:607765 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma... |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, A... |
OMIM:617713 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Epican... |
ORPHA:192 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami... |
ORPHA:397946 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Ataxia, Elevated circul... |
OMIM:616878 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge... |
OMIM:601499 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal... |
ORPHA:77293 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Abnormal fear-indu... |
ORPHA:3077 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Craniosynostosis, ... |
ORPHA:178303 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Congenital malformation of the left heart, Synophrys, ... |
ORPHA:3455 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Babinski sign, Flex... |
OMIM:300534 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Decerebrate rigidity, Cherry red spot of the macula, Ataxia, Hepat... |
ORPHA:354 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Decreased serum iron, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Iris ... |
ORPHA:207 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Hypercalcemia, Micrognathia, Tremor, Complete atrioventricular canal defect, Synophry... |
ORPHA:476126 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
22Q11.2 Deletion Syndrome |
|
Cataract, Splenomegaly, Hypopigmented skin patches, Multiple suture craniosynostosis, Depression,... |
ORPHA:567 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Periodic paralysis, Microcephaly, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:170390 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Synophrys, Flexion contracture, Knee flexion contracture... |
OMIM:619503 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Slurred speech, Wide nasal bridge, Gait ... |
ORPHA:812 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentratio... |
ORPHA:1652 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk, Chorea, Tip-... |
ORPHA:268 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Ataxia,... |
ORPHA:480864 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Microcephaly, Abnormal eyelash morpho... |
ORPHA:2399 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bull's eye maculopathy, Large for gestational age, Micrognathia, Hypoplasia of the maxilla, Synop... |
OMIM:213980 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athe... |
OMIM:617710 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Sinusitis, Elevated circulating alpha-fet... |
OMIM:208900 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:619802 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Blue irides, Obesity,... |
OMIM:105830 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn... |
ORPHA:240071 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Cataract, Sparse eyelashes, Microcephaly, Sparse eyebr... |
OMIM:617988 |
Ogden Syndrome |
|
Sparse eyebrow, Fine hair, Iron deficiency anemia, Irritability, Long eyelashes, Hyperbilirubinem... |
OMIM:300855 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retinopathy |
ORPHA:71 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypopla... |
OMIM:616367 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Palpebral edema |
ORPHA:567546 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Large cafe-au-la... |
ORPHA:562 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Optic atrophy, Abnormal... |
ORPHA:52368 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Waddling gait, Cataract, Ataxia, Elevated circulating creatine kina... |
OMIM:615356 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Secondary microcephaly, Peters anomaly, Atri... |
OMIM:618652 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Failure ... |
ORPHA:193 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Lower limb spasticity, Cataract, Ataxia, Scarring, Foot join... |
ORPHA:90321 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A... |
ORPHA:330015 |
Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Posterior embryotoxon, Catara... |
OMIM:118450 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypertonia, Intention tremor, A... |
OMIM:264090 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Trisomy 9P |
|
Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Hypoplastic fingernail |
ORPHA:236 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Schistocytosis, Elevated circulating creatinine concentration, Microa... |
OMIM:274150 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Astigmatism, Advanced eruption of teeth, Sh... |
OMIM:614753 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Tenorio Syndrome |
|
Osteopenia, Mandibular prognathia, Telecanthus, Cerebral palsy, Hypoglycemia, Clumsiness, Keratoc... |
OMIM:616260 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Ocul... |
ORPHA:529665 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Clonus, Cardiomegaly, Tetraplegia, Spasticity |
ORPHA:3137 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Confusion, Mydriasis |
ORPHA:95613 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyra... |
ORPHA:581 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Pmm2-Cdg |
|
Osteopenia, Mandibular prognathia, Multiple joint contractures, Hypoalbuminemia, Ataxia, Pericard... |
ORPHA:79318 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... |
OMIM:227810 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Epicanthus, Ataxia, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Wide nasal... |
ORPHA:314679 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis |
ORPHA:2776 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:606002 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retinal vascular morphol... |
ORPHA:247691 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:212138 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Small for gestational age, Hypoplas... |
OMIM:101800 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Premature graying of hair, Cognitive impairment, Multiple cafe-au-lait ... |
ORPHA:100 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Delayed eruption of teeth, C... |
OMIM:259600 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Synophrys, Asymme... |
OMIM:252920 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Micrognathia, Hyp... |
ORPHA:560 |
Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes |
OMIM:300946 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Mowat-Wilson Syndrome |
|
Cataract, Supernumerary nipple, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colob... |
OMIM:235730 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Inability to walk, Spastic tetraplegia, Abnormal atrioventri... |
ORPHA:324410 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperprote... |
ORPHA:509 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Hypoplasia of the ma... |
OMIM:609460 |
Pheochromocytoma |
|
Cafe-au-lait spot, Hypercalcemia, Developmental cataract |
OMIM:171300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Micrognathia, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrop... |
ORPHA:90154 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Reduced bone mineral density, Multiple lipomas |
ORPHA:1414 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular ... |
ORPHA:31150 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Epicanthus, Cognitive impairment, Ptosis |
ORPHA:2662 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Methanol Poisoning |
|
Confusion, Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Type I dia... |
ORPHA:31825 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Oromandibular dystonia, Dysmetria, ... |
ORPHA:101 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Highly arched eyebrow, Asplenia, Abnormal pupil morphology, Flexion contr... |
ORPHA:261552 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hype... |
ORPHA:51 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Blepharophimosis, Microgna... |
OMIM:608149 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Flexion contractu... |
OMIM:230000 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... |
OMIM:214500 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Hemiplegia/hemiparesis, Transient hyperlipidemia, Hypertrophic cardio... |
ORPHA:156 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Epicanthus, Inguinal hernia, Palpebral edema, Increased serum beta-hexo... |
OMIM:252500 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, ... |
ORPHA:2720 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2929 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Pycnodysostosis |
|
Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of primary teeth, Micr... |
ORPHA:763 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Vitreous floaters, Weight loss, Cardiomegaly |
ORPHA:85447 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypo... |
OMIM:614921 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Emotional lability, Reticulocytosis |
OMIM:300653 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Hypoalbuminemia, Nai... |
OMIM:614748 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... |
OMIM:617052 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Lipoat... |
ORPHA:363618 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Ataxia, Microcephaly, Tremor, Micrognathia, Trismus, Flexion contracture, Opisthotonus,... |
OMIM:616271 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Osteoporosis of vertebrae |
OMIM:156510 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Lipemia retinalis, Xanthelasma, Hyperur... |
OMIM:232200 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Spasticity, Camptodactyly of finger, Microcephaly |
ORPHA:85279 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Inguinal hernia, Cataract, Small for gestational age, Ataxia, Tremor, Wide nas... |
OMIM:614052 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Microcephaly, Splenomegaly, Mic... |
OMIM:608013 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Hypoplasia of the maxilla, Malar flattening, Absent extraocular musc... |
OMIM:109120 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:439822 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Right hemiplegia, ... |
OMIM:607426 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Corneal opacity, Lipoatrophy, Micrognat... |
OMIM:601812 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,... |
ORPHA:228396 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Inability... |
OMIM:128100 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Atrial septal defect, Malar flatten... |
OMIM:241310 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, ... |
OMIM:231670 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Osteoporosis |
OMIM:307030 |
Hyperlysinemia |
|
Short attention span, Failure to thrive, Neck hypertonia, Poor motor coordination, Craniosynostos... |
ORPHA:2203 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Emotional lability, Weight loss, Gait at... |
OMIM:137440 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Attention deficit hyperactivity... |
ORPHA:776 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Microcephaly, Depression, Attent... |
OMIM:618798 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... |
OMIM:268800 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Cantú Syndrome |
|
Epicanthus, Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Osteoporosis, Wide na... |
ORPHA:1517 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Inguinal hernia, Abnormal dental en... |
ORPHA:96263 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides, Advanced ossification of carpal bones |
OMIM:614613 |
Martsolf Syndrome 1 |
|
Epicanthus, Cataract, Inguinal hernia, Clonus, Microcephaly, Micrognathia, Hypoplasia of the maxi... |
OMIM:212720 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Trismus, Opisthotonus, Hype... |
ORPHA:3299 |
Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Hypoplasia of the maxilla, Mandibular prognathia, Mitral valve prolapse |
OMIM:601216 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
Beckwith-Wiedemann Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Melanocytic nevus, Choroidere... |
ORPHA:116 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short nose |
ORPHA:1248 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Hypoplasia of the maxilla, Abnormal anterior chamber morphology, Wide nasal bridge, ... |
ORPHA:782 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Lacrima... |
OMIM:106260 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Tremor, Chorea, Atrial septal defect, Dysplastic aortic valve, Umbilical h... |
OMIM:601808 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve mo... |
ORPHA:363705 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Micrognathia, Long nose, Hypoplasia of the maxilla, Flexion contractur... |
OMIM:309520 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... |
ORPHA:18 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Contracture of the proximal interphalangeal... |
OMIM:300998 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Cachexia, Hyperkalemia, Hepatosple... |
ORPHA:275761 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Wolfram Syndrome 1 |
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Diabetes mellitus, Cataract, Ataxia, Tremor, Optic atrophy, Cardiomyopathy, Pigmentary retinopath... |
OMIM:222300 |
Danon Disease |
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Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Abnormal eyebrow morphology, Cataract, Absent eyelashes, Hyperlipidemia, Insulin resistance, Flex... |
ORPHA:90153 |
Williams Syndrome |
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Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Optic atrophy, Ptosis |
ORPHA:93262 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Inability to walk, Gait ... |
OMIM:618877 |
Hypotrichosis 8 |
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Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the... |
OMIM:618541 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:365 |
Digeorge Syndrome |
|
Sclerocornea, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Attention deficit hyp... |
OMIM:188400 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Monosomy 13Q34 |
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Horizontal eyebrow, Hypercalcemia |
ORPHA:96168 |
Acrodysostosis |
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Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Hypoplasia of the maxilla, Wide nas... |
ORPHA:950 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Osteopenia, Telecanthus, Inguinal hernia, Craniosynostosis, Microcephaly, Micrognathia, Hypoplasi... |
OMIM:182212 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cataract, Calcaneal epiphyseal stippling, Ventricular septal defect, Optic disc hypoplasia, Optic... |
ORPHA:79345 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Isolated Complex I Deficiency |
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Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Ataxi... |
ORPHA:2609 |
Shprintzen-Goldberg Syndrome |
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Osteopenia, Telecanthus, Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Microcephaly... |
ORPHA:2462 |
Den Hoed-De Boer-Voisin Syndrome |
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Tremor, Decreased body weight, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, Upper limb s... |
OMIM:619229 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Insulinoma |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:97279 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Nablus Mask-Like Facial Syndrome |
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Telecanthus, Sparse eyelashes, Highly arched eyebrow, Craniosynostosis, Absent eyelashes, Sparse ... |
OMIM:608156 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Highly arched eyebrow, Cardio... |
OMIM:618143 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, D... |
OMIM:614381 |
Gaucher Disease |
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Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Cherry red spot of the... |
ORPHA:355 |
19P13.12 Microdeletion Syndrome |
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Epicanthus, Ventricular septal defect, Craniosynostosis, Microcephaly, Hyperlipidemia, Synophrys,... |
ORPHA:254346 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Osteopenia, Hypoglycemia, Microcephaly, Wide nasal bridge, Retrognathia, Buphthalmos, Joint contr... |
OMIM:618005 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Hypoplasia of the maxilla, Camptodactyly |
OMIM:246560 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine... |
OMIM:618839 |
Progressive Supranuclear Palsy |
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Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Dementia, Falls, Cognit... |
ORPHA:683 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula... |
OMIM:618835 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Flexion contracture, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia |
ORPHA:98791 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Mandibular prognathia, Short attention span, Broad-based gait, Ataxia, Tremor, Cessation of head ... |
ORPHA:98794 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Microretrognathia, Thick eyebrow, Inguinal hernia, Bicuspid aortic valve, Craniosynos... |
OMIM:245600 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Optic atr... |
OMIM:123500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Osteopenia, Eunuchoid habitus, Cardiomegaly, Synophrys, Abnormality of the palpebral fissures, Lo... |
ORPHA:2463 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormal pyramidal sign, Spastic tetrap... |
ORPHA:349 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... |
ORPHA:139507 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Short mandibular ra... |
OMIM:612109 |
Andersen-Tawil Syndrome |
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Periodic hyperkalemic paralysis, Abnormality of dental color, Periodic paralysis, Micrognathia, H... |
ORPHA:37553 |
7Q31 Microdeletion Syndrome |
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Speech apraxia, Short attention span, Telecanthus, Epicanthus, Torticollis, Hypoplasia of the max... |
ORPHA:251061 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Osteoporosis, Rickets |
OMIM:560000 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Failure to thrive, H... |
ORPHA:3008 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Attention deficit hyperactivity di... |
OMIM:305400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Spastic tetraplegia, Cardiomegaly |
OMIM:300886 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal ... |
OMIM:601390 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Hyperhomocystinemia, Delirium, Retinal degeneration, Ataxia, Dilated cardiomyo... |
ORPHA:79282 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Astig... |
ORPHA:2095 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Small for gestational age, Short nose, Cardiomegaly |
OMIM:613320 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Few cafe-au-lait spots, Hypocalcemia, Attention deficit hyperactivity disorder, Emo... |
OMIM:620330 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Epicanthus, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Dental malocclu... |
OMIM:615546 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Lipemia retinalis, Xanthe... |
OMIM:232220 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... |
ORPHA:3322 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Microcephaly, Tremor, Obesity, Upslanted p... |
OMIM:619680 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Ankylobl... |
OMIM:263650 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of hair pigmentation, Corneal scarr... |
ORPHA:90354 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Retinal hemor... |
ORPHA:25 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Weight loss, Brady... |
OMIM:168605 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Spastic paraplegia, Babinski sign, Reduced bone mineral density, Tip-toe gait, Abnormal o... |
ORPHA:83629 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... |
OMIM:201100 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Hypoplasia of t... |
OMIM:608328 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Joubert Syndrome With Ocular Defect |
|
Retinal dystrophy, Dextrocardia, Highly arched eyebrow, Ataxia, Tremor, Retinal coloboma, Gait di... |
ORPHA:220493 |
Treacher-Collins Syndrome |
|
Cataract, Abnormal dental enamel morphology, Micrognathia, Absent eyelashes, Hypoplasia of the ma... |
ORPHA:861 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Abnormal size of the palpebral fissures, Corneal dystroph... |
ORPHA:1101 |
Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Lower eyelid coloboma, Hypoplasi... |
ORPHA:245 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Micrognathia, Sparse eyebrow, Epiblepharon, Tremor, Distal arthrogryp... |
OMIM:617557 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness,... |
OMIM:229200 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co... |
OMIM:620306 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Progressive neurologic deterioration |
ORPHA:70472 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Incoordination, Ventricular septal defect, Ataxia, Progressiv... |
OMIM:614947 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia |
OMIM:612561 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... |
OMIM:309000 |
Marshall-Smith Syndrome |
|
Omphalocele, Microretrognathia, Failure to thrive, Prominence of the premaxilla, Ventricular sept... |
OMIM:602535 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Hypercalcemia |
ORPHA:29072 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Ptosis |
ORPHA:1540 |
3Mc Syndrome 2 |
|
Torticollis, Prominence of the premaxilla, Highly arched eyebrow, Craniosynostosis, Wide nasal br... |
OMIM:265050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Slender build |
OMIM:300676 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Reduced bone mineral density, Knee fle... |
OMIM:259050 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... |
OMIM:243800 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Microcephaly, Micrognathia, Synophrys, Inability to walk, Optic at... |
ORPHA:97297 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Glucose intolerance, Hy... |
OMIM:616539 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Trichinellosis |
|
Confusion, Anisocoria, Irritability, Conjunctivitis, Abnormal uvea morphology, Memory impairment,... |
ORPHA:863 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Wide nasal bridge, Dysmetria, Spastic tetraplegia, Cardiomyopathy, Athetosis, Dif... |
ORPHA:572798 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ventricular septal defect, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia... |
OMIM:277600 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Limitation of joint mobility, Ocular albinis... |
ORPHA:2719 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Shallow orbits, Coronal craniosynostosis, Downs... |
OMIM:101600 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Conjunctivitis, Nail dystrophy, Abnormality ... |
ORPHA:2968 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Cataract, Hyperpigmentation of the skin, Eosinophilia, Hypercalcemia,... |
ORPHA:797 |
Glucagonoma |
|
Depression, Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ... |
OMIM:300894 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Reduced bone mineral density, Cognitive impairment, Lymphopenia, Anemia |
ORPHA:935 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Hypouricemia, Increased circulating guanosine concentration, Ataxia, Tremor, Splenomeg... |
OMIM:613179 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Subcutaneous li... |
OMIM:615108 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Lower... |
OMIM:616462 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pr... |
OMIM:619573 |
Geroderma Osteodysplasticum |
|
Osteopenia, Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Osteoporosis, Camptod... |
OMIM:231070 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Microcephaly, Tremor, Micrognathia, Osteopoikilosis, Synophrys, Failure to thr... |
ORPHA:94063 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Retrognathia, Hepatosplenomegaly, Long eyelashes, Dyst... |
ORPHA:79330 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar para... |
OMIM:616586 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Short nose |
OMIM:137550 |
Stickler Syndrome |
|
Retinal detachment, Epicanthus, Telecanthus, Cataract, Abnormal dental enamel morphology, Cachexi... |
ORPHA:828 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Leukocoria, Cognitive impairment, Reduced bone mineral density |
ORPHA:1556 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defect, Patent forame... |
OMIM:180849 |
Cockayne Syndrome A |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Loss of facial adipo... |
OMIM:216400 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... |
ORPHA:53271 |
Frontorhiny |
|
Pericallosal lipoma, Epicanthus, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Hy... |
ORPHA:391474 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyeb... |
ORPHA:306542 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P... |
OMIM:234200 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Bone spicule pigmentation of the retina, Cataract, Rickets, Recurrent fractures |
OMIM:268315 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Microcephaly, Hypoplasia of th... |
ORPHA:1798 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Hiatus her... |
ORPHA:50 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight |
ORPHA:93945 |
Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Subcutaneous li... |
OMIM:615109 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,... |
OMIM:242840 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand |
ORPHA:90658 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Talon cusp, Optic atrophy, Abn... |
ORPHA:363417 |
Neu-Laxova Syndrome |
|
Osteopenia, Cataract, Osteomalacia, Abnormal eyelash morphology, Abnormal hair morphology, Flexio... |
ORPHA:2671 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Confusion |
ORPHA:464453 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Sparse axillary hair, Sparse pubic hair, Fine hair, Anisocoria, Developmental cataract,... |
OMIM:181270 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Serotonin Syndrome |
|
Confusion, Irritability, Mental deterioration, Delirium, Mydriasis |
ORPHA:43116 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrapleg... |
ORPHA:58 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Micrognathia, Tremor, Aortic valve atresia, Dysmetria, Hyperglycemia, Atax... |
OMIM:220111 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Femoral hernia, Hypo... |
ORPHA:2588 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia... |
OMIM:617022 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Cockayne Syndrome B |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypopla... |
OMIM:133540 |
Multiple Endocrine Neoplasia, Type I |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:131100 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hype... |
ORPHA:91 |
Dyskeratosis Congenita |
|
Hepatomegaly, Abnormal eyebrow morphology, Diabetes mellitus, Cataract, Abnormal eyelash morpholo... |
ORPHA:1775 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Vipoma |
|
Normochromic anemia, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Keratoconjunctivitis sicca |
ORPHA:309031 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Telecanthus, Inguinal hernia, Delayed eruption of teeth, Campt... |
OMIM:166250 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... |
ORPHA:2131 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Rickets, Corneal crystals |
OMIM:219900 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impa... |
OMIM:146500 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Joint hypermobility |
OMIM:617101 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Bilateral ptosis, Dilated car... |
OMIM:164310 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia... |
ORPHA:2828 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Subcutaneous li... |
OMIM:158350 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, H... |
OMIM:267750 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Microcephaly, Absent lower eyelashes, Keratoconjunctivitis sicca, D... |
OMIM:620370 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Joint hypermobility, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Confusion, Microcephaly, Tremor, Hyperhomocystinemia, ... |
OMIM:277400 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
Myhre Syndrome |
|
Mandibular prognathia, Cataract, Ventricular septal defect, Small for gestational age, Ataxia, Bl... |
OMIM:139210 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho... |
OMIM:168600 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Low ... |
ORPHA:124 |
Charge Syndrome |
|
Iris coloboma, Lymphopenia, Hypocalcemia, Cataract |
OMIM:214800 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Norrie Disease |
|
Clonus, Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Hypertonia, Aplasia/Hypo... |
ORPHA:649 |
Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Dextrocardia, Highly arched eyebrow, Microgna... |
OMIM:620305 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Dpagt1-Cdg |
|
Hepatomegaly, Failure to thrive, Ataxia, Lipodystrophy, Akinesia, Microcephaly, Tremor, Inability... |
ORPHA:86309 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, ... |
ORPHA:286 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Hyperpigmentation of the skin |
OMIM:231550 |
Arachnoid Cyst |
|
Depression, Social and occupational deterioration, Irritability, Memory impairment, Mania, Mydriasis |
ORPHA:2356 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Superficial Siderosis |
|
Anisocoria, Memory impairment, Dementia, Cognitive impairment |
ORPHA:247245 |
Zttk Syndrome |
|
Epicanthus, Ventricular septal defect, Craniosynostosis, Sparse eyebrow, Hypoplasia of the maxill... |
OMIM:617140 |
Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Hypercalcemia, Confusion, Osteolysis, Increased susceptibility to fractures... |
ORPHA:652 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Small for gestational age, Lipoatrophy, Ectopia lentis, Micrognathia, Abnormal card... |
ORPHA:284979 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Corneal opacity, Cardiomegaly, Optic atrop... |
ORPHA:137675 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Abnormality iris morphology, Congenital diaphragmatic hernia |
ORPHA:250999 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Choreoathetosi... |
ORPHA:3464 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Long eyebrows, Optic atrophy, Wide nasal bridge, Long eyelas... |
OMIM:201180 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Nail bed telangiectasia, Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
Saethre-Chotzen Syndrome |
|
Epicanthus, Craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, Blepharospasm, Ptosis |
ORPHA:794 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Hypoplasia of the maxilla, Malar flattening, Short nose, Downslanted palpebral fissures |
OMIM:122880 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Scorpion Envenomation |
|
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Myocarditis, Gly... |
ORPHA:466677 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentra... |
ORPHA:439232 |
Cocaine Intoxication |
|
Delirium, Elevated circulating creatine kinase concentration, Mania, Mydriasis |
ORPHA:90068 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Cataract |
ORPHA:45358 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Carious tee... |
OMIM:129400 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:276700 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Alström Syndrome |
|
Abnormality of dental color, Hepatomegaly, Ataxia, Drusen, Insulin resistance, Dilated cardiomyop... |
ORPHA:64 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Camptodactyly of toe |
ORPHA:158687 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Joint stiffness, Flexion contracture, Depression, Anemia |
ORPHA:847 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... |
ORPHA:79430 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Keloids, Tricuspid valve pr... |
ORPHA:96129 |
Greenberg Dysplasia |
|
Hepatomegaly, Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, Patchy var... |
OMIM:215140 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cataract, Hypoplasia of the maxilla, Synophrys,... |
OMIM:211380 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Hiatus hernia, Microcephaly, Choriore... |
OMIM:304050 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Corneal opacity, Hyperlipidemia, Abnormal primary molar morphology, He... |
ORPHA:1830 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Opt... |
ORPHA:87 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Sparse eyelashes, Lipodystrophy, M... |
OMIM:209885 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, High anterior hairline |
OMIM:615510 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender... |
OMIM:300967 |
Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Small for gestational age, Microcephaly, Micrognathia, Hypoplasia of... |
OMIM:224690 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Large for gestational age, Micrognath... |
ORPHA:96334 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Telecanthus, Highly arched eyebrow, Craniosynostosis, Microcephaly, Hypopl... |
ORPHA:1299 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Lacrimal duct stenosis, Small for gestational age, Craniosynostosis, ... |
ORPHA:506358 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Posteri... |
ORPHA:50814 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sclerocornea, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... |
OMIM:600920 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Micrognathia, Microcephaly, Hypoplasia of the max... |
OMIM:613803 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... |
ORPHA:99867 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:108721 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Medial flaring of the eyebrow, Short attention span, Hypercalcemia, Fle... |
OMIM:194050 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leukopenia, Iron ... |
OMIM:619488 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Frontal upsweep of hair, Attention deficit hy... |
OMIM:176270 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Chorioretinal hypopigmen... |
ORPHA:398069 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycoge... |
OMIM:261740 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly... |
OMIM:182250 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia, Type I diabetes mellitus |
ORPHA:3044 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis |
ORPHA:790 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Confusion, Mydriasis |
ORPHA:79138 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Supernumerary nipple, Highly arched eyebrow |
OMIM:618653 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Cataract, Abnormality of hair texture, Joint hyperfle... |
ORPHA:96169 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Chorioretinal hypopigmentation, Hypopigmentat... |
ORPHA:398079 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology, Abnormality of... |
ORPHA:91387 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Absent eyelash... |
ORPHA:920 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Polycythemia, Nail bed telangiectasia, Anemia |
OMIM:187300 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Micrognathia |
OMIM:619074 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Cataract, Hypercalcemia, Craniosynostosis, Ankle flexion contractu... |
ORPHA:821 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Microcephaly |
OMIM:613804 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Entropion, Blepharophimosis, Hypoplas... |
OMIM:617402 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Long nose, Hypoplasia of the maxilla, Cleft of chin, Abn... |
OMIM:101400 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Delirium, Hepatomegaly, Papilledema, Abnormal ce... |
ORPHA:3385 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:1307 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Mohr Syndrome |
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Telecanthus, Micrognathia, Hypoplasia of the maxilla, Agenesis of central incisor, Malar flattening |
OMIM:252100 |
Yunis-Varon Syndrome |
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Absent sternal ossification, Ventricular septal defect, Sparse eyelashes, Cataract, Cardiomegaly,... |
ORPHA:3472 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Occipital Horn Syndrome |
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Osteopenia, Osteomalacia, Thick hair, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, ... |
ORPHA:198 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Grfoma |
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Hypercalcemia |
ORPHA:97261 |
Zollinger-Ellison Syndrome |
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Hypercalcemia |
ORPHA:913 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Witteveen-Kolk Syndrome |
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Joint laxity, Medial flaring of the eyebrow, Cataract, Hyperconvex nail, Contracture of the dista... |
OMIM:613406 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:98754 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Floating-Harbor Syndrome |
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Speech apraxia, Short attention span, Broad-based gait, Small for gestational age, Persistence of... |
ORPHA:2044 |
Charcot-Marie-Tooth Disease Type 4C |
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Anisocoria |
ORPHA:99949 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Telecanthus, Inguinal hernia, Sparse eyelashes, Microcephaly, Sparse eyebrow, Dacryocystitis, Hyp... |
OMIM:129900 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:98793 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Peters-Plus Syndrome |
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Cataract, Ventricular septal defect, Craniosynostosis, Peters anomaly, Microcephaly, Micrognathia... |
OMIM:261540 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:177901 |
Multiple Endocrine Neoplasia Type 4 |
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Hypercalcemia |
ORPHA:276152 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Meier-Gorlin Syndrome 5 |
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Hypoplasia of the maxilla, Failure to thrive, Micrognathia, Microcephaly |
OMIM:613805 |
Prader-Willi Syndrome |
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Osteopenia, Hypopigmentation of hair, Osteoporosis, Increased susceptibility to fractures, Attent... |
ORPHA:739 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Iris atrophy, Cataract, Ventricular septal defect, Microcephaly, Osteoporosis, Retina... |
OMIM:259770 |
Sponastrime Dysplasia |
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Joint laxity, Cataract, Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyse... |
ORPHA:93357 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Ta... |
OMIM:305100 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Craniosynostosis, Micrognathia, Microcephaly, Hypoplasia of the maxilla,... |
ORPHA:2554 |
Cleft Velum |
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Hypoplasia of the maxilla |
ORPHA:99772 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Epicanthus, Failure to thrive in infancy, Optic nerve hypoplasia, Sagittal craniosynostosis, Spar... |
ORPHA:500150 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy... |
ORPHA:51608 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Alopecia, Osteomalacia, Loss of eyelashes, Osteoporosi... |
ORPHA:2636 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipide... |
ORPHA:567983 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Aortic Aneurysm, Familial Thoracic 6 |
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Iris flocculi |
OMIM:611788 |
Microphthalmia With Limb Anomalies |
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Abnormal eyebrow morphology, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxill... |
ORPHA:1106 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Attention deficit hyperactivity disorder, Stellate iris, Hypopigmentati... |
ORPHA:177907 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Hypoplasia of the maxil... |
OMIM:604292 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Weill-Marchesani Syndrome 4 |
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Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Inguinal hernia, Prominence of the premaxilla, Congenital diaphragmatic hernia, Microcephaly, Mic... |
OMIM:614437 |
Menkes Disease |
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Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Woodhouse-Sakati Syndrome |
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Diabetes mellitus, Hyperlipidemia, Choreoathetosis, Abnormality of extrapyramidal motor function,... |
OMIM:241080 |
Retinoblastoma |
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Leukemia, Leukocoria |
OMIM:180200 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Elevated circulati... |
ORPHA:818 |
Craniotubular Dysplasia, Ikegawa Type |
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Sclerosis of skull base, Thin bony cortex, Mydriasis |
OMIM:619727 |
Sickle Cell Disease |
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Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly |
OMIM:603903 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyo... |
OMIM:130650 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Papilledema, Delayed eruption of teeth, Sagittal craniosynostosis, Hypopla... |
OMIM:614188 |
Congenital Tracheomalacia |
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Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the maxilla, Ag... |
OMIM:610829 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Widow's peak, Joint hyperflexibility, Coarse hair |
ORPHA:1974 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Plague |
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Splenomegaly, Depression, Arthritis, Conjunctival hyperemia, Delirium, Mydriasis |
ORPHA:707 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Depression, Emotional lability, Hyperglycemia |
ORPHA:293987 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Mydriasis |
OMIM:613834 |
Collagenoma, Familial Cutaneous |
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Cardiomyopathy, Right ventricular cardiomyopathy, Iris atrophy |
OMIM:115250 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Microcephaly, Chorioretinal c... |
OMIM:157170 |
Craniofacial Microsomia 1 |
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Ventricular septal defect, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Upper eyeli... |
OMIM:164210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Delayed ossification of carpal bones, Waddling gait |
OMIM:300106 |
Homozygous Familial Hypercholesterolemia |
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Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ... |
ORPHA:391665 |