Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Esophageal varix, Hypertriglyceridemia |
ORPHA:75234 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Alpha-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal small intestine morphology, Hypocalcemia |
ORPHA:100025 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... |
OMIM:620211 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... |
OMIM:278000 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Cog4-Cdg |
|
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Irritability, Hypercholest... |
ORPHA:263501 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:614338 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... |
OMIM:246700 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:612526 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... |
ORPHA:247585 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Eosinophilia, Ab... |
ORPHA:2070 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Protein-losing enteropathy, Hypomagnesemia, Microcytic anemia... |
ORPHA:398063 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Thrombocytopenia, Anemia, Abn... |
ORPHA:848 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal degeneratio... |
OMIM:615558 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Mental deterioration, Elevated circulating creatine kinase concentration, Hyperc... |
OMIM:208920 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Morgagni-Stewart-Morel Syndrome |
|
Memory impairment, Depression, Hyperuricemia, Hypercholesterolemia, Cognitive impairment |
ORPHA:77296 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small... |
ORPHA:92050 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... |
OMIM:300048 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia |
OMIM:182290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Secondary Short Bowel Syndrome |
|
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Hypercholesterolemia |
ORPHA:254531 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Psychomotor de... |
ORPHA:79237 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia |
OMIM:616744 |
Pancreatic Colipase Deficiency |
|
Steatorrhea, Fat malabsorption, Megaloblastic anemia |
ORPHA:309108 |
Temple Syndrome |
|
Bifid uvula, Hypercholesterolemia, Hypertriglyceridemia, High palate, Cleft palate |
OMIM:616222 |
Alg6-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Retinal degeneration, Decreased LDL cholesterol conc... |
ORPHA:79320 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Bifid uvula, Hypercholesterolemia, High palate, Cleft palate, Pyloric stenosis |
ORPHA:96184 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Elevated circulating alpha-fetoprote... |
OMIM:616267 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Hypercholesterolemia, Retinal ... |
ORPHA:819 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Squamou... |
OMIM:618849 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... |
ORPHA:103910 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... |
OMIM:175500 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hyperbilirubinemia, Eso... |
OMIM:619662 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Memory impairment, Leukocytosis, Hypercholesterolemia, Cognitive impairment, Progressive neurolog... |
ORPHA:90065 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... |
ORPHA:275761 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, High palate, Hypercholesterolemia, Cleft palate |
OMIM:616730 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption, Increased serum bile acid concentration |
OMIM:607748 |
Ataxia With Vitamin E Deficiency |
|
Short term memory impairment, Xanthelasma, Increased LDL cholesterol concentration, Hypercholeste... |
OMIM:277460 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Depression, Hypocholesterolemia, Abnormal erythrocyte morp... |
ORPHA:96180 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ga... |
OMIM:174900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:79240 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased circulating ferritin concentration, Decreased HDL cholesterol concent... |
ORPHA:470 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Ulcerative colitis, Xanthelasma, Hyperlipidemia, Hyperuricem... |
ORPHA:79259 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creatinine concentration, ... |
ORPHA:90038 |
Neuhauser Syndrome |
|
Bifid uvula, Retinal detachment, Hypercholesterolemia, High palate, Dysphagia |
OMIM:249310 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Elevated circulating creatinine concentration, Throm... |
OMIM:608104 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Abnormal tongue morphology, Hypercholesterolemia, Hy... |
ORPHA:2457 |
Congenital Generalized Lipodystrophy |
|
Macroglossia, Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Oculopalatocerebral Syndrome |
|
Cleft palate, Remnants of the hyaloid vascular system |
OMIM:257910 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, C... |
OMIM:612561 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Galloway-Mowat Syndrome 7 |
|
High palate, Hypercholesterolemia, Cleft palate |
OMIM:618348 |
Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption, Acanthocytosis |
ORPHA:71 |
Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the gastrointestinal tract |
ORPHA:79327 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l... |
ORPHA:79076 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Hypomagnesemia, Intestinal lym... |
ORPHA:90362 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Gastroesophageal reflux, Depression, Volvulus, Abnormal hemoglobin, Aganglionic me... |
ORPHA:847 |
Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Acholic stools, Steatorrhea, Fat malabsorption, Conjugated hyp... |
OMIM:607765 |
Atelis Syndrome 2 |
|
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Thrombocytopenia, Remnants of ... |
OMIM:620185 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... |
ORPHA:90674 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Steatorrhea |
OMIM:602579 |
Lead Poisoning |
|
Memory impairment, Depression, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concent... |
ORPHA:330015 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Hyperbilirubinemia, Jejunal ... |
OMIM:615710 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, High palate, HbH hemoglobin |
ORPHA:98791 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Gastroesophageal reflux, Persistence of hemoglobin F |
OMIM:619769 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Mednik Syndrome |
|
Increased circulating very long-chain fatty acid concentration, Microcolon, Volvulus, Jejunal atr... |
OMIM:609313 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Hypercholesterolemia |
ORPHA:2479 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Mpi-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage |
ORPHA:79319 |
Low Phospholipid-Associated Cholelithiasis |
|
Neoplasm of the liver, Hypercholesterolemia, Hepatocellular carcinoma |
ORPHA:69663 |
Acquired Methemoglobinemia |
|
Confusion, Methemoglobinemia |
ORPHA:464453 |
Visceral Myopathy 1 |
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Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
Immunodeficiency 47 |
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Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
Shwachman-Diamond Syndrome 1 |
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Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatr... |
OMIM:618183 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Thymoma |
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Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Leukemia, Pure red cell apl... |
ORPHA:99867 |
Trichothiodystrophy 6, Nonphotosensitive |
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Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Annular Pancreas |
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High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Mungan Syndrome |
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Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Cat Eye Syndrome |
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Anal stenosis, Meckel diverticulum, Volvulus, Chorioretinal coloboma, Intestinal malrotation, Rec... |
OMIM:115470 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Abnormality... |
ORPHA:91500 |
Prader-Willi Syndrome |
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Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertriglyceridemia, Decreased H... |
OMIM:176270 |
Systemic Sclerosis |
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Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Oculocerebrorenal Syndrome Of Lowe |
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Depression, Gastroesophageal reflux, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention def... |
ORPHA:534 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Oculo-Palato-Cerebral Syndrome |
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High, narrow palate, Retinal detachment, Cleft palate, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Juvenile Polyposis Syndrome |
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Rectocele, Gastrointestinal hemorrhage, Hamartomatous stomach polyps, Protein-losing enteropathy,... |
ORPHA:2929 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Immunodeficiency 31C |
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Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... |
OMIM:614162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... |
OMIM:614643 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Intestinal malrotation, Microcolon |
OMIM:619431 |
Congenital Disorder Of Glycosylation, Type Iiaa |
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Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Oculoskeletodental Syndrome |
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Protein-losing enteropathy, Splenomegaly, Hypocalcemia, Macroglossia, Hypercalcemia |
OMIM:618440 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperlipidemia, Hypercholesterolemia, Calcinosis, High palate |
OMIM:248370 |
Bardet-Biedl Syndrome 20 |
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Papilledema, Hypercholesterolemia |
OMIM:619471 |
Steinert Myotonic Dystrophy |
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Abnormality of the tongue muscle, Mental deterioration, Depression, Intestinal pseudo-obstruction... |
ORPHA:273 |
Diamond-Blackfan Anemia |
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Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
Fg Syndrome Type 1 |
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Abnormal large intestine morphology, Gastroesophageal reflux, Optic nerve hypoplasia, Attention d... |
ORPHA:93932 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis |
ORPHA:2241 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Persistent Hyperplastic Primary Vitreous |
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Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Protein-losing enteropathy, Splenomegaly, Hypocalcemia, High palate, Hypoproteinemia, Cleft palate |
OMIM:235255 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Emotional lability, Abnormal duodenum morphology, Dementia, Neoplasm... |
ORPHA:512 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Alagille Syndrome 1 |
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Hepatocellular carcinoma, Pigmentary retinopathy, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Hypochromic microcytic anemia, Macrog... |
OMIM:301040 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Protein-losing enteropathy, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, High palate, Hypoprot... |
ORPHA:1655 |
Pericardial And Diaphragmatic Defect |
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Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Whim Syndrome |
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Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine morphology, Neut... |
ORPHA:51636 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Microcolon, Ileus, Splenomegaly |
ORPHA:163746 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Autosomal Recessive Polycystic Kidney Disease |
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Protein-losing enteropathy, Gastrointestinal hemorrhage, Hypersplenism, Hepatosplenomegaly, Splen... |
ORPHA:731 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon |
OMIM:619362 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Hypoalbuminemia, Protein-losing enteropathy, Intestinal lymphangiectasia, Narrow palate, Rectal p... |
OMIM:235510 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy, Hypercholesterolemia, Dysphagia, Hypertriglyceridemia |
OMIM:606721 |
Scedosporiosis |
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Abnormal jejunum morphology |
ORPHA:449280 |
Tarp Syndrome |
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Optic atrophy, Extramedullary hematopoiesis, Abnormal duodenum morphology, Glossoptosis, Tongue n... |
ORPHA:2886 |
Full Nf2-Related Schwannomatosis |
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Memory impairment, Dysphagia, Remnants of the hyaloid vascular system |
ORPHA:637 |
Pierson Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Zygomycosis |
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Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Ileitis, Gastritis, Enterocolitis, ... |
ORPHA:73263 |
Dextrocardia |
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Intestinal malrotation, Abnormality of the spleen, Meckel diverticulum |
ORPHA:1666 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypoalbuminemia, Gastroesophageal reflux, Increased circulating ferritin concentration, Elevated ... |
OMIM:619534 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Ileal atresia |
OMIM:619351 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hypoplasia of the small intestine, Polysplenia |
OMIM:200995 |
Holoprosencephaly 2 |
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Bifid uvula, Chorioretinal coloboma, Median cleft palate, Submucous cleft hard palate, Bilateral ... |
OMIM:157170 |
Liver Disease, Severe Congenital |
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Protein-losing enteropathy, Increased circulating ferritin concentration, Chronic gastritis, Leuk... |
OMIM:619991 |
Acromelic Frontonasal Dysostosis |
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Optic nerve hypoplasia, Submucous cleft soft palate, Cleft palate, Remnants of the hyaloid vascul... |
OMIM:603671 |
Congenital Tracheal Stenosis |
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Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Narrow palate, Abnormal large intestine morphology, Hamartomatous polyposis |
ORPHA:109 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Tracheoesophag... |
OMIM:265380 |
Lowe Oculocerebrorenal Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
Neuroocular Syndrome 1 |
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Short uvula, Ankyloglossia, Submucous cleft hard palate, Attention deficit hyperactivity disorder... |
OMIM:619539 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, Retinal detachment, High pal... |
OMIM:601776 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Optic neuropathy |
ORPHA:391665 |
Microphthalmia, Syndromic 2 |
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Bifid uvula, Submucous cleft hard palate, Retinal detachment, Remnants of the hyaloid vascular sy... |
OMIM:300166 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Microcolon, Intestinal malrotation |
OMIM:600001 |
Norrie Disease |
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Optic atrophy, Irritability, Attention deficit hyperactivity disorder, Retinal detachment, Remnan... |
ORPHA:649 |
Plague |
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Inflammation of the large intestine, Depression, Splenomegaly, Ileitis, Enterocolitis, Hematemesi... |
ORPHA:707 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Abnormality of the anus, Cleft palate |
OMIM:219000 |
Alkaptonuria |
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Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
Restrictive Dermopathy |
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Microcolon, Submucous cleft hard palate |
ORPHA:1662 |