Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis |
OMIM:604416 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:618858 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Secondary Short Bowel Syndrome |
|
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy |
OMIM:600955 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Ataxia |
ORPHA:134 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Recurrent hypoglycemia, Leukopenia, Thrombocytosis, Leukocytosis, Lethargy, Nonketotic hypoglycem... |
ORPHA:20 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Villous atrophy |
OMIM:614602 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, High palate, Villous atrophy |
OMIM:601110 |
X-Linked Sideroblastic Anemia |
|
Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Ataxia |
OMIM:212750 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia |
OMIM:256500 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
Refractory Celiac Disease |
|
Protein-losing enteropathy, Villous atrophy, Jejunitis |
ORPHA:398063 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... |
ORPHA:90362 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Lymphopenia, Leukopenia, Thrombocytosis |
OMIM:615934 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Congenital Disorder Of Glycosylation, Type Il |
|
Villous atrophy |
OMIM:608776 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Hemochromatosis, Type 4 |
|
Anemia, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:606069 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Ataxia, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leuk... |
OMIM:615688 |
Poems Syndrome |
|
Splenomegaly, Diabetes mellitus, Polycythemia, Thrombocytosis |
ORPHA:2905 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Mhc Class Ii Deficiency 1 |
|
Colitis, Villous atrophy |
OMIM:209920 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Colitis, Inflammation of the large intestine, Villous atrophy |
OMIM:614700 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception |
OMIM:619377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
Pancreatic Colipase Deficiency |
|
Steatorrhea, Cholelithiasis, Fat malabsorption |
ORPHA:309108 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Dysmetria, Thrombocytosis |
OMIM:212065 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology |
ORPHA:100025 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... |
OMIM:301074 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception |
OMIM:614162 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy |
OMIM:606367 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Leukocytosis, Thrombocytosis |
OMIM:618213 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume |
OMIM:616943 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... |
OMIM:300048 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... |
OMIM:615710 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy |
ORPHA:567983 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F |
OMIM:617101 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |
Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Villous atrophy, Pancreatic fibrosis |
OMIM:557000 |
Alg9-Cdg |
|
Bifid uvula, Gastroesophageal reflux, Villous atrophy, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Perianal dermatitis, Increased fecal calprotectin level, Nec... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal intestine morphology, Esophageal carcinoma, Villous atrophy, Enterocolitis |
ORPHA:391487 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
Brucellosis |
|
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia |
ORPHA:1304 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... |
ORPHA:2070 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Villous atrophy, Crohn's disease, Gastritis, Colitis, Duodenal ulcer |
OMIM:619381 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Impaired platelet aggregation, Leukocytosis, ... |
ORPHA:2968 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Kawasaki Disease |
|
Leukocytosis, Thrombocytosis |
ORPHA:2331 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... |
OMIM:175500 |
Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage |
ORPHA:79319 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Gaisböck Syndrome |
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Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Visceral Myopathy 1 |
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Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
Shwachman-Diamond Syndrome 1 |
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Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Doors Syndrome |
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Thrombocytosis |
ORPHA:79500 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Thymoma |
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Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Juvenile Polyposis Of Infancy |
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High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Systemic Sclerosis |
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Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Lead Poisoning |
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Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Juvenile Polyposis Syndrome |
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Rectocele, Protein-losing enteropathy, Gastrointestinal hemorrhage, Hematochezia, Colon cancer, S... |
ORPHA:2929 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl... |
ORPHA:512 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Alkaptonuria |
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Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Abnormality of the anus, Cryptorchidism, Cleft palate |
OMIM:219000 |