| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Growth delay, Anem... |
ORPHA:100025 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... |
ORPHA:3032 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Intrahe... |
OMIM:601847 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Immunodeficiency 31C |
|
Lymphopenia, Short stature, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis,... |
OMIM:614162 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor, Growth delay |
OMIM:243320 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... |
OMIM:619079 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased fecal bile acid |
OMIM:613291 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:209950 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... |
ORPHA:103907 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... |
ORPHA:79301 |
| Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
| Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... |
OMIM:602347 |
| Disorder Of Bile Acid Synthesis |
|
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... |
ORPHA:79168 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Fat malabsorption... |
OMIM:211600 |
| Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
| Atresia Of Small Intestine |
|
Short stature, Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejunal atresia, Intraute... |
ORPHA:1201 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix |
OMIM:613490 |
| Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
| Congenital Short Bowel Syndrome |
|
Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, Abnormal peristalsi... |
OMIM:615237 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Thrombocytosis, Coombs-positive hemolytic anemia, Asplenia |
OMIM:614034 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Cirrhosis, Diarrh... |
OMIM:607765 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Postnatal growth retardation, Eczema, Intrauterine growth retardation |
OMIM:233810 |
| Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase, ... |
OMIM:214900 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Villous atrophy, Prote... |
OMIM:602579 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Feingold Syndrome 2 |
|
Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Protein-losing enteropathy, Hepatic f... |
ORPHA:79319 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... |
OMIM:619445 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
| Eosinophilic Gastroenteritis |
|
Malabsorption, Leukocytosis, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastroi... |
ORPHA:2070 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... |
ORPHA:157798 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... |
OMIM:615710 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Short stature, Episodic vomiting, Villous atrophy, Pancyt... |
OMIM:616050 |
| Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Celiac disease |
OMIM:618985 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Pruritus, Steatorrhea |
OMIM:607748 |
| Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... |
OMIM:614602 |
| Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Chylomicron Retention Disease |
|
Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Elevated hepatic transaminase, Increased hepatoc... |
ORPHA:71 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Increased proportion of HLA DR+ T cells, Nor... |
ORPHA:398063 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Vomiting, Pyloric stenosis, Increased mean platelet volume, Intestinal ps... |
OMIM:300048 |
| Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Enteric Anendocrinosis |
|
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension |
ORPHA:83620 |
| Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth retardation, ... |
OMIM:232700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Iron deficiency anemia |
OMIM:226300 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormalit... |
ORPHA:234 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic failure, Steatorrhea, E... |
ORPHA:79303 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intrauterine growth retardation, Duodenal atresia, Bloody diarrhea, Lymphopenia, Intestinal atres... |
OMIM:243150 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Hepatosplenomegaly, Eosinophil... |
OMIM:618999 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Thrombocytosis, Leukocytosis, Hyperglycemia |
ORPHA:134 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... |
ORPHA:324636 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Duodenal stenosis |
ORPHA:1759 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Vomiting, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-po... |
OMIM:619510 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous atrophy, Protracted d... |
OMIM:209920 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Protein-losing enteropat... |
OMIM:608104 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Diar... |
ORPHA:263665 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Episodic vomiting, Ileoileal intussusception, Cholestasis, Vill... |
OMIM:619377 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Ileal ulcer, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Poems Syndrome |
|
Polycythemia, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Nonketotic hypoglycemia, Thrombocytosis, Recurrent hypoglycemia, Anemia |
ORPHA:20 |
| Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Type I diabetes mellitus, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
| Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Autoimmune thrombocytopenia, Throm... |
OMIM:304790 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
| Alg6-Cdg |
|
Abnormality of the liver, Protein-losing enteropathy, Jaundice, Macroglossia |
ORPHA:79320 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Short st... |
OMIM:615952 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
| Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... |
ORPHA:1198 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
| Medullary Thyroid Carcinoma |
|
Dysphagia, Diarrhea, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
| Microvillus Inclusion Disease |
|
Pruritus, Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... |
ORPHA:30391 |
| Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Type I d... |
OMIM:615688 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Decreased liver function, Protein-losing enteropathy, ... |
ORPHA:79327 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Postnatal growth retardati... |
OMIM:615190 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis, Protein-losing enteropath... |
OMIM:175500 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Diarrhea, Cholestasis, Hepatic fibrosis, Jejunal atresia, Growth delay, Microcolon, Vo... |
OMIM:609313 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
| Chronic Granulomatous Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Eczema, Mediastinal lymphad... |
ORPHA:379 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
| Cystic Fibrosis |
|
Malabsorption, Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency |
ORPHA:586 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Enlarged tonsils, Eczema, Hepatosplenomega... |
OMIM:606367 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Anemia, Thrombocytopenia |
ORPHA:88673 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Abnormal stomach morphology, Short stature |
ORPHA:281090 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Skin rash, Cirrhosis, ... |
ORPHA:779 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
| Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea |
OMIM:600955 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intestinal bleeding, Intussusception, Iron deficiency anemia, Rectal pr... |
OMIM:112200 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Anemia, Abnormal lymphatic vessel morphology, Reduced proportio... |
ORPHA:90362 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hep... |
ORPHA:101330 |
| Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
| Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... |
OMIM:105650 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Gly... |
ORPHA:552 |
| Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Pruritus, Prolonged neona... |
OMIM:301068 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of ... |
OMIM:614700 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:182900 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185000 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Macroglossia, Short stature, Splenomegaly, Protein-losing enteropathy |
OMIM:618440 |
| Netherton Syndrome |
|
Intestinal atresia, Villous atrophy, Hypereosinophilia, Erythroderma, Abnormal intestine morphology |
OMIM:256500 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
| Visceral Myopathy 1 |
|
Constipation, Pancreatitis, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstru... |
OMIM:155310 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum |
ORPHA:2357 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... |
ORPHA:3260 |
| Mungan Syndrome |
|
Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis |
OMIM:611376 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:209981 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Bloody diarrhea, Intestinal atresia, Intestinal malrotation, Hyp... |
ORPHA:436252 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplen... |
ORPHA:1655 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... |
ORPHA:731 |
| Dextrocardia |
|
Webbed neck, Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormalit... |
ORPHA:1666 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis |
ORPHA:84064 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Thrombocytosis, Splenomegaly |
OMIM:222470 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Enterocolitis, Neutropenia in presence of anti... |
ORPHA:391487 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hepatomegaly, Cleft palate, Hepatic failure, Splenomegaly, Pulmonary lymphangiectasi... |
OMIM:235255 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Neutropenia, ... |
OMIM:557000 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Rec... |
ORPHA:90291 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Short stature, Leukopenia, Esophageal stricture, Hypoplasti... |
OMIM:617053 |
| Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
| Cat Eye Syndrome |
|
Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Biliary atresi... |
OMIM:115470 |
| Brucellosis |
|
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:1304 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia, Polysplenia |
OMIM:619608 |
| Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Abnorma... |
ORPHA:512 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
| Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Diarrhea, Hematochezia, Rectal... |
OMIM:174900 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Hepatomegaly, Intestinal malrotation, Trach... |
ORPHA:2538 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Vomitin... |
ORPHA:79240 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Short stature, Pyloric stenosis, Neutropenia, Intrauterine growth retardation, Mecke... |
OMIM:616395 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Short stature, Aplasia of the thymus |
ORPHA:3004 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... |
ORPHA:2929 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
| Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary tract abnormality,... |
OMIM:156810 |
| Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Anemia, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... |
OMIM:619573 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb... |
ORPHA:2968 |
| Immunodeficiency 17 |
|
Recurrent gastroenteritis, Chronic oral candidiasis, Eczema, T lymphocytopenia, Decreased proport... |
OMIM:615607 |
| Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... |
ORPHA:811 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Mild postnat... |
ORPHA:456312 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hypoplastic spleen, Asplenia, Short stature |
OMIM:602361 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Diaphanospondylodysostosis |
|
Cleft palate, Abnormal liver lobulation, Disproportionate short-trunk short stature, Webbed neck,... |
OMIM:608022 |
| Mosaic Trisomy 9 |
|
High palate, Cleft palate, Abnormal liver lobulation, Intestinal malrotation, Webbed neck, Intrau... |
ORPHA:99776 |
| Harrod Syndrome |
|
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... |
OMIM:601095 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Mild postnatal growth retardation, Thyroid lymphangiectasia, Erysipelas, Rectal pr... |
OMIM:235510 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Decreased proportion of naive T cells, Colitis,... |
OMIM:619381 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... |
ORPHA:699 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Meckel diverticulum |
ORPHA:777 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hyperglycemia |
ORPHA:391673 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Recurrent skin infections, Short stature, Eczema, Diarrhea, Absent natu... |
OMIM:617827 |
| Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Hematoch... |
ORPHA:73263 |
| Scedosporiosis |
|
Unusual skin infection, Abnormal jejunum morphology |
ORPHA:449280 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp... |
ORPHA:2298 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Diarrhea, Acanthocytosis, Fat malabsorption, Postnatal growth retardation, Abnorma... |
ORPHA:96180 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte tra... |
OMIM:619313 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Postnatal growth retardation, Episodic vomiting, Vomiting, ... |
OMIM:207800 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
| Whim Syndrome |
|
Lymphopenia, Lymphadenitis, Abnormality of the small intestine, Neutropenia, Parotitis, Abnormali... |
ORPHA:51636 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Eczema, Diar... |
OMIM:619991 |
| Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia |
OMIM:226730 |
| Abetalipoproteinemia |
|
Hepatomegaly, Steatorrhea, Anemia, Cirrhosis, Vomiting, Acanthocytosis, Elevated hepatic transami... |
ORPHA:14 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Rhizomelia, Meckel diverticulum, Short stature |
OMIM:602613 |
| Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
| Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
| Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis |
ORPHA:330015 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Constipation, Cleft palate, Recurrent skin infections, Malrotation of small bowel, A... |
ORPHA:2953 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:618183 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... |
OMIM:265380 |
| Sarcoidosis |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Abnormality of the lymph nodes, Maculopa... |
ORPHA:797 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Cleft palate, Short stature, Anal stenosis, Duodenal stenosis, Growth ... |
OMIM:617063 |
| Tarp Syndrome |
|
Cleft palate, Glossoptosis, Extramedullary hematopoiesis, Abnormal duodenum morphology, Tongue no... |
ORPHA:2886 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
| Storm Syndrome |
|
Fat malabsorption |
OMIM:185069 |
| Alg9-Cdg |
|
Gastroesophageal reflux, Periportal fibrosis, Hepatomegaly, Diarrhea, Vomiting, Bifid uvula, Hepa... |
ORPHA:79328 |
| Fanconi Anemia |
|
High palate, Anal atresia, Abnormality of the liver, Intrauterine growth retardation, Cleft palat... |
ORPHA:84 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
|
