Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin... |
OMIM:263300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropathy, Hypoalbuminemia |
OMIM:615863 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, 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 hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Acholic stools, Increased serum bile acid concentration, Hypercholeste... |
OMIM:619868 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Peptic ulcer, Hyperuricemia, Increased red b... |
ORPHA:90041 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Abnormal small intestine morphology, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Abetalipoproteinemia |
|
Retinal degeneration, Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Alpha-Thalassemia |
|
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly,... |
ORPHA:846 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypolipidemia, Steatorrhea |
OMIM:614338 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Eosinophilic Gastroenteritis |
|
Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Elevated circulati... |
ORPHA:2070 |
Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Gastrointestinal obstruction, Increased hematocrit, Hematemesis, Iron deficie... |
ORPHA:100076 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Hypophosphatemia, Hypocalcemia, Abn... |
ORPHA:398063 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Steatorrhea, Decreased HDL cholest... |
OMIM:615558 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability, Recurrent infection of ... |
ORPHA:263501 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Smith-Magenis Syndrome |
|
Head-banging, Velopharyngeal insufficiency, Hypercholesterolemia, Retinal detachment, Hypertrigly... |
OMIM:182290 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... |
ORPHA:2198 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cognitive impairment, Dementia, Elevated circulating creatine kinase concentration, Hypercholeste... |
OMIM:208920 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Megaloblastic anemia, Steatorrhea |
ORPHA:309108 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Irritability, Abnormal hemoglobin, Spl... |
ORPHA:848 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:95427 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Cognitive impairment, Suicidal ideation, Hypercholesterolemia, Memory impairment |
ORPHA:77296 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Protein-losing enteropathy |
OMIM:613502 |
Citrullinemia Type Ii |
|
Aggressive behavior, Irritability, Hepatocellular carcinoma, Acute hyperammonemia, Hypoproteinemi... |
ORPHA:247585 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Elevated red c... |
OMIM:300946 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... |
OMIM:300048 |
Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hype... |
OMIM:616267 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia |
OMIM:616744 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Hypercholesterolemia |
ORPHA:254531 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Glossitis, Xerostom... |
OMIM:175500 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hepatosple... |
ORPHA:79237 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Temple Syndrome |
|
High palate, Bifid uvula, Hypercholesterolemia, Cleft palate, Hypertriglyceridemia |
OMIM:616222 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Macroglossia, Protein-losing enter... |
ORPHA:79320 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Pyloric stenosis, Bifid uvula, Hypercholesterolemia, Cleft palate |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Self-injurious behavior, Anxiety, Hypercholesterolemia, Retinal detachme... |
ORPHA:819 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of the tongue, Increase... |
OMIM:618849 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Pr... |
ORPHA:103910 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Progressive neurologic deterioration, Leukocytosis, Hypercholesterolemia, M... |
ORPHA:90065 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Elevated circu... |
ORPHA:370 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine ki... |
ORPHA:264580 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Cognitive impairment, Hyponatremia, Hypersplenism, Hyperkalemia, Ps... |
ORPHA:275761 |
Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis |
ORPHA:71 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Nephrotic Syndrome, Type 11 |
|
Cleft palate, Hypoalbuminemia, High palate, Hypercholesterolemia |
OMIM:616730 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... |
OMIM:174900 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Short term memory impairment, Increased LDL cholesterol concentration, Xant... |
OMIM:277460 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Anemia, Hepatocellular carcinoma, Elevated circulating creatine kinase conc... |
ORPHA:79240 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Optic atrophy, Fat malabsorption, Elevated circulating c... |
ORPHA:96180 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Enterocolitis, Cognitive impair... |
ORPHA:79259 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Intussusception, Unconjugated hyperbilirubinemia, Microa... |
ORPHA:90038 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Cognitive impairment, Hyperglutaminemia, St... |
ORPHA:470 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea, Hypocholesterolemia, Splenomegaly, Conjugated hyp... |
OMIM:607765 |
Oculopalatocerebral Syndrome |
|
Cleft palate, Remnants of the hyaloid vascular system |
OMIM:257910 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Macroglossia, Hypercholesterolemia |
ORPHA:528 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, High palate, Abnormal tongue morphology, Hypercholes... |
ORPHA:2457 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, C... |
OMIM:612561 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Protein-losing enteropathy, Elevated circulating creatinine concentration, Thrombocytopen... |
OMIM:608104 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Esophageal ulceration, Decreased serum thromboxane B2, Iron deficiency anemia, Ab... |
OMIM:618372 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Galloway-Mowat Syndrome 7 |
|
Cleft palate, High palate, Hypercholesterolemia |
OMIM:618348 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool alpha1-antitrypsin co... |
ORPHA:90362 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Malabsorption, Hyperbilirubinemia, Acholic stools, Intestinal malrotation, Anter... |
OMIM:615710 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Alg1-Cdg |
|
Protein-losing enteropathy, Hypoalbuminemia, Abnormality of the gastrointestinal tract |
ORPHA:79327 |
Juvenile Polyposis Of Infancy |
|
Anemia, High, narrow palate, Intussusception, Hematochezia, Intestinal bleeding, Refractory anemi... |
ORPHA:79076 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Anemia, Self-injurious behavior, Optic atrophy, Volvulus, Aganglionic me... |
ORPHA:847 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... |
OMIM:120200 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Bifid uvula, High palate, Dysphagia |
OMIM:249310 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Cognitive impairment... |
ORPHA:801 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Decreased circulating cortisol level, Villous atrophy |
OMIM:600955 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Optic disc pallor, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Steatorrhea, Villous atrophy, Hypoalbuminemia |
OMIM:602579 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, High palate, Microcytic anemia |
ORPHA:98791 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Mednik Syndrome |
|
Volvulus, Microcolon, Increased circulating very long-chain fatty acid concentration, Jejunal atr... |
OMIM:609313 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Hypercholesterolemia |
ORPHA:2479 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Hiatus hernia, Persistence of hemoglobin F |
OMIM:619769 |
Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hypoalbuminemia |
ORPHA:79319 |
Low Phospholipid-Associated Cholelithiasis |
|
Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia |
ORPHA:69663 |
Immunodeficiency 47 |
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Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... |
OMIM:300972 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Thrombocy... |
OMIM:260400 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Acquired Methemoglobinemia |
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Methemoglobinemia, Anxiety |
ORPHA:464453 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Fat malabsorption, Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Extra... |
ORPHA:79303 |
Disorder Of Bile Acid Synthesis |
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Fat malabsorption |
ORPHA:79168 |
Thymoma |
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Neoplasm of the gastrointestinal tract, Leukemia, Ulcerative colitis, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Lead Poisoning |
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Abnormal T cell morphology, Anemia, Cognitive impairment, Imbalanced hemoglobin synthesis, Increa... |
ORPHA:330015 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Self-injurious behavior, Persistence of hemoglobin F |
OMIM:617101 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Coloboma, Hypomagnesemia, Protein-losing enteropathy, Hyponatremia, Hypocalcemia, Hypertriglyceri... |
OMIM:618183 |
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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Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis |
OMIM:611376 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Fat malabsorption, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypercholesterolemia, Gastroesophageal reflux, Anemia, Hyperaldosteronism, Narrow palate, Self-in... |
ORPHA:534 |
Cat Eye Syndrome |
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Rectal atresia, Volvulus, Anal atresia, Intestinal malrotation, Iris coloboma, Meckel diverticulu... |
OMIM:115470 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Fat malabsorption, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Abetalipoproteinemia |
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Anemia, Decreased LDL cholesterol concentration, Fat malabsorption, Hyperbilirubinemia, Reticuloc... |
ORPHA:14 |
Visceral Myopathy 1 |
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Megaduodenum, Aganglionic megacolon, Microcolon, Dysphagia, Intestinal pseudo-obstruction |
OMIM:155310 |
Systemic Sclerosis |
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Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:90291 |
Meconium Ileus |
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Meconium ileus, Microcolon |
OMIM:614665 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, High palate, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cleft palate, Remnants of the hyaloid vascular system, High, narrow palate |
ORPHA:2714 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Normocytic anemia, Abnormality of retinal pigmentation, Elevated circulating ... |
ORPHA:91500 |
Shwachman-Diamond Syndrome |
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Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Abn... |
ORPHA:811 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Intestinal malrotation, Microcolon |
OMIM:619431 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Hypercholest... |
ORPHA:90674 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... |
OMIM:614643 |
Juvenile Polyposis Syndrome |
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Hamartomatous stomach polyps, Stomach cancer, Anemia, Juvenile colonic polyposis, Neoplasm of the... |
ORPHA:2929 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Steinert Myotonic Dystrophy |
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Aggressive behavior, Cognitive impairment, Anxiety, Emotional lability, Colon cancer, Abnormality... |
ORPHA:273 |
Immunodeficiency 31C |
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Villous atrophy, Intussusception, Lymphopenia, Impaired lymphocyte transformation with phytohemag... |
OMIM:614162 |
Oculoskeletodental Syndrome |
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Hypocalcemia, Macroglossia, Hypercalcemia, Protein-losing enteropathy, Splenomegaly |
OMIM:618440 |
Blackfan-Diamond Anemia |
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Acute myeloid leukemia, Leukopenia, High palate, Cleft soft palate, Reticulocytopenia, Adenocarci... |
ORPHA:124 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Intestinal malrotation, Microcolon, Hypoperistalsis, Abnormality of the gastrointestinal tract |
ORPHA:2241 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Fat malabsorption, Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration |
OMIM:214950 |
Bardet-Biedl Syndrome 20 |
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Papilledema, Hypercholesterolemia |
OMIM:619471 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Persistent Hyperplastic Primary Vitreous |
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Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... |
ORPHA:91495 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Hypoproteinemia, Protein-losing enteropathy, Cleft palate, Hypocalcemia, Splenomegaly |
OMIM:235255 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Fg Syndrome Type 1 |
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Gastroesophageal reflux, High palate, Abnormal large intestine morphology, Pyloric stenosis, Anal... |
ORPHA:93932 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Metachromatic Leukodystrophy |
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Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Dementia, Emotional l... |
ORPHA:512 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hepatocellular carcinoma, Pigmentary retinopathy, Hypercholesterolemia |
OMIM:118450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Gastroesophageal reflux, Reduced alpha/beta synthesis ratio, Macroglossia, Hypochromic microcytic... |
OMIM:301040 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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High palate, Hepatosplenomegaly, Hypoproteinemia, Protein-losing enteropathy, Hypocalcemia, Splen... |
ORPHA:1655 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Microcolon, Aganglionic megacolon, Splenomegaly, Ileus |
ORPHA:163746 |
Pericardial And Diaphragmatic Defect |
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Intestinal malrotation, Morphological abnormality of the gastrointestinal tract, Meckel diverticulum |
ORPHA:2847 |
Whim Syndrome |
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Abnormality of neutrophil morphology, Lymphopenia, Parotitis, Abnormal small intestine morphology... |
ORPHA:51636 |
Acromelic Frontonasal Dysostosis |
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Cleft palate, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Autosomal Recessive Polycystic Kidney Disease |
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Cognitive impairment, Hyponatremia, Fat malabsorption, Hypersplenism, Cholangiocarcinoma, Hepatos... |
ORPHA:731 |
Tarp Syndrome |
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Optic atrophy, Tongue nodules, Abnormal duodenum morphology, Extramedullary hematopoiesis, Cleft ... |
ORPHA:2886 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Narrow palate, Protein-losing enteropathy, Rectal prolapse, Intestinal lymphangiectasia, Hypoalbu... |
OMIM:235510 |
Scedosporiosis |
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Abnormal jejunum morphology |
ORPHA:449280 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Memory impairment, Dysphagia |
ORPHA:637 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon |
OMIM:619362 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy, Dysphagia |
OMIM:606721 |
Pierson Syndrome |
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Retinal hemorrhage, Posterior lenticonus, Remnants of the hyaloid vascular system, Hypoproteinemi... |
OMIM:609049 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Aggressive behavior, Elevated amniotic fluid alpha-fet... |
OMIM:309000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Gastroesophageal reflux, Coloboma, Hyperbilirubinemia, Increased circulating ferritin concentrati... |
OMIM:619534 |
Dextrocardia |
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Intestinal malrotation, Abnormality of the spleen, Meckel diverticulum |
ORPHA:1666 |
Zygomycosis |
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Enterocolitis, Colon perforation, Ileitis, Melena, Gastritis, Hematemesis, Gastrointestinal hemor... |
ORPHA:73263 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Ileal atresia |
OMIM:619351 |
Isolated Biliary Atresia |
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Fat malabsorption, Acholic stools, Xanthelasma, Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:30391 |
Acrocephalopolydactylous Dysplasia |
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Hypoplasia of the small intestine, Polysplenia, Hypoplastic colon |
OMIM:200995 |
Holoprosencephaly 2 |
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Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Iris coloboma, Remnants of... |
OMIM:157170 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia |
ORPHA:391665 |
Congenital Tracheal Stenosis |
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Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Congenital shortened small intestine, Esophageal atresia, Anal atresia, Tracheoesophage... |
OMIM:265380 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Hamartomatous polyposis, Narrow palate, Intestinal polyposis, Abnormal large intestine morphology |
ORPHA:109 |
Liver Disease, Severe Congenital |
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Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Abnormal duodenum morphology, Intestinal malrotation, Retinal detachment, Cleft pala... |
OMIM:601776 |
Neuroocular Syndrome |
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Anxiety, Ankyloglossia, Submucous cleft hard palate, Lens coloboma, Remnants of the hyaloid vascu... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
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Bifid uvula, Submucous cleft hard palate, Iris coloboma, Remnants of the hyaloid vascular system,... |
OMIM:300166 |
Norrie Disease |
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Self-injurious behavior, Optic atrophy, Remnants of the hyaloid vascular system, Anxiety, Retinal... |
ORPHA:649 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Intestinal malrotation, Microcolon, Colon perforation |
OMIM:600001 |
Fraser Syndrome 1 |
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Cleft palate, Abnormal small intestine morphology, Abnormality of the anus |
OMIM:219000 |
Restrictive Dermopathy |
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Microcolon, Submucous cleft hard palate |
ORPHA:1662 |