| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
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 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| 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 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Anemia, Malabsor... |
ORPHA:100025 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia |
OMIM:604416 |
| Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Intestinal malrotation, ... |
ORPHA:3032 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy, Growth delay |
OMIM:251850 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Short stature, Pruritus, Splenomegaly, Cirrhosis, Intrahe... |
OMIM:601847 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Immunodeficiency 31C |
|
Eczema, Abnormal intestine morphology, Villous atrophy, Growth delay, Short stature, Chronic muco... |
OMIM:614162 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia, Growth delay |
OMIM:243320 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Diarrhea, Autoimmune ... |
OMIM:618495 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis |
OMIM:209950 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Congenital Short Bowel Syndrome |
|
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... |
OMIM:615237 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Malabsorption, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... |
ORPHA:103907 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic f... |
OMIM:602579 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Pruritus, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neon... |
ORPHA:79301 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
| Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
| Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Pruritus, Anemia, Gastric varix, Splenome... |
ORPHA:64743 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
| Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... |
ORPHA:70482 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
| Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... |
ORPHA:79168 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Pruritus, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic chol... |
OMIM:211600 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Pruritus, ... |
OMIM:602347 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Growth dela... |
ORPHA:95427 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Abnormal intestine morphology, Hepatic fibrosis, Growth delay, Cirrhosis, Cholestasis, Diarrhea |
OMIM:609313 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting |
OMIM:615863 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Atresia Of Small Intestine |
|
Intrauterine growth retardation, Vomiting, Short stature, Jejunal atresia, Intestinal malrotation... |
ORPHA:1201 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia, Asplenia |
OMIM:614034 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... |
OMIM:607765 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... |
OMIM:214900 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Eczema, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:233810 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
| Immunodeficiency 17 |
|
Eczema, Abnormal intestine morphology, Decreased proportion of CD8-positive T cells, Recurrent ga... |
OMIM:615607 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... |
OMIM:619445 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... |
ORPHA:79319 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Postnatal growth retardation, Short stature |
OMIM:614326 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production |
OMIM:237800 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... |
ORPHA:309108 |
| Serrated Polyposis Syndrome |
|
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... |
ORPHA:157798 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Intrauterine growth re... |
OMIM:615710 |
| Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Dysphagia, Vomiting, Anemia, Malabsorption, Steatorrhea, Abnorma... |
ORPHA:2070 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
| Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Anemia, Splenomegaly, Reduced natural killer cell count, Skin ras... |
OMIM:616050 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Intrauterine growth retardation, Hepatitis, Cirrhosis, Diarrhea, C... |
OMIM:614602 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Short stature, Celiac disease, Postnatal growth retardation, Delayed puberty |
OMIM:618985 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Intrauterine growth retardation, Vomiting, Anemia, Decreased liver function, Choles... |
OMIM:608104 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Jejun... |
OMIM:601346 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Hypercholanemia, Familial 1 |
|
Pruritus, Steatorrhea, Fat malabsorption |
OMIM:607748 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morpholo... |
ORPHA:92050 |
| Chylomicron Retention Disease |
|
Growth delay, Vomiting, Acanthocytosis, Increased hepatocellular lipid droplets, Hepatic steatosi... |
ORPHA:71 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Vomiting, Intestinal pseudo-obstruction, Congen... |
OMIM:300048 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic a... |
ORPHA:398063 |
| Vascular Hyalinosis |
|
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia |
OMIM:277175 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Increased hepatic glyc... |
OMIM:232700 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
| Enteric Anendocrinosis |
|
Portal hypertension, Vomiting, Malabsorption, Cholestatic liver disease, Diarrhea |
ORPHA:83620 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Ileal ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Colitis |
OMIM:616744 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Immunodeficiency 55 |
|
Eczema, Neutropenia, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent s... |
OMIM:617827 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Short stature, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegaly, Eosino... |
OMIM:618999 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612690 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet adhesion, Thrombo... |
ORPHA:324636 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... |
ORPHA:131 |
| Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula |
OMIM:223320 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Villous atrophy, Neutropenia, Biliary tract abnormality, Protracted diarrhea, Malabs... |
OMIM:209920 |
| Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Villous atrophy, Vomiting, Growth delay, Chronic diarrhea, Reduced natural ... |
OMIM:619510 |
| Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Portal fibrosis, He... |
OMIM:619377 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Duodenitis |
OMIM:614328 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia |
ORPHA:20 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Poems Syndrome |
|
Polycythemia, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Neutropenia, Villous atrophy, Lymphadenopathy, Coombs-positive hemolytic an... |
OMIM:304790 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Type I diabetes mellitus, Macrocytic anemia |
OMIM:212750 |
| Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
| Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... |
ORPHA:2494 |
| Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy, Abnormality of the liver, Jaundice |
ORPHA:79320 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Abnormal intestine morphology, Celiac disease, Neutropenia in presence of anti-neutropil ... |
OMIM:615952 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
| Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Dysphagia, Diarrhea, Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Interface hepatitis, Intrauterine growth retardation, Hypoplasia of the ... |
OMIM:243150 |
| Microvillus Inclusion Disease |
|
Pruritus, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:616649 |
| Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... |
ORPHA:1198 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... |
ORPHA:567983 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Pruritus, Bile ... |
ORPHA:30391 |
| Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:615688 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Diarrhea, Ham... |
OMIM:175500 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Intrauterine growth retardation, Leukopenia, Bone marrow hypocellularity, Postnatal growth retard... |
OMIM:615190 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... |
OMIM:109270 |
| Alg1-Cdg |
|
Chronic diarrhea, Decreased liver function, Protein-losing enteropathy, Abnormality of the gastro... |
ORPHA:79327 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Eczema, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly,... |
ORPHA:379 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Reynolds Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Pruritus, Cirrhosis, Ski... |
ORPHA:779 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Villous atrophy, Lymphadenopath... |
OMIM:606367 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency |
ORPHA:586 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Hypoglycemia, Type II diabetes mellitus, Polycythemia, Anemia, Thrombocytopenia |
ORPHA:88673 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Short stature, Abnormal stomach morphology |
ORPHA:281090 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy, Malabsorption |
OMIM:600955 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
| Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... |
OMIM:613027 |
| Primary Intestinal Lymphangiectasia |
|
Growth delay, Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin concentrat... |
ORPHA:90362 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level |
OMIM:102730 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... |
OMIM:112200 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Bloody diarrhea, Intrauterine growth retardation, Peritoneal abscess, Hy... |
ORPHA:436252 |
| Porphyria Cutanea Tarda |
|
Increased fecal porphyrin, Hepatocellular carcinoma, Elevated hepatic iron concentration, Chronic... |
ORPHA:101330 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
| Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology |
ORPHA:171851 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
| Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Leukopenia, Short stature, Lymphadenopathy, Hepatitis, Bone marro... |
ORPHA:381 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... |
OMIM:614700 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
| Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Pancreat... |
OMIM:155310 |
| Bronchogenic Cyst |
|
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Macroglossia, Splenomegaly, Protein-losing enteropathy |
OMIM:618440 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
| Netherton Syndrome |
|
Abnormal intestine morphology, Erythroderma, Villous atrophy, Hypereosinophilia, Intestinal atresia |
OMIM:256500 |
| Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Short stature, Intrahepatic bile duct cysts, Splenomegaly, Hepatos... |
OMIM:301068 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Hypochromic anemia |
OMIM:618213 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Growth delay, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, D... |
ORPHA:329971 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology |
ORPHA:209981 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... |
ORPHA:731 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Splenomegaly, Hepatosplenomegaly, Postnata... |
ORPHA:1655 |
| Dextrocardia |
|
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Webbed neck, Abnormality o... |
ORPHA:1666 |
| Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Splenomegaly, Thyroid lympha... |
OMIM:235255 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Abnormal intestine morphology, V... |
ORPHA:391487 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... |
ORPHA:210122 |
| Abetalipoproteinemia |
|
Acanthocytosis, Fat malabsorption |
OMIM:200100 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
| Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Pruritus, Gas... |
ORPHA:90291 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Refractory an... |
ORPHA:79076 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the p... |
ORPHA:2470 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea |
OMIM:601110 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... |
ORPHA:512 |
| Scleroderma |
|
Abnormality of the small intestine, Abnormal large intestine morphology, Pruritus, Abnormal stoma... |
ORPHA:801 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Brucellosis |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
ORPHA:1304 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Duodenal atresia, Intestinal malrotation |
OMIM:619608 |
| Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... |
OMIM:174900 |
| Mirage Syndrome |
|
Intrauterine growth retardation, Leukopenia, Short stature, Anemia, Chronic diarrhea, Achalasia, ... |
OMIM:617053 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Nausea, Short stature, Hepato... |
ORPHA:79240 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... |
ORPHA:2929 |
| Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Abse... |
OMIM:156810 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia, Short stature |
ORPHA:3004 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... |
OMIM:200995 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
| Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Colonic diverticula, Small bowel diverticula |
OMIM:223330 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Growth delay, Rectovagin... |
ORPHA:2538 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... |
ORPHA:2968 |
| Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Hypoglycemia, Anemia, Diabetes mellitus |
OMIM:609069 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Shwachman-Diamond Syndrome |
|
Eczema, Neutropenia, Pancreatic hypoplasia, Short stature, Leukemia, Steatorrhea, Pancytopenia, B... |
ORPHA:811 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Severe short stature |
ORPHA:2617 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
| Diaphanospondylodysostosis |
|
Cleft palate, Intrauterine growth retardation, Webbed neck, Abnormal liver lobulation, Disproport... |
OMIM:608022 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
| Immunodeficiency 87 And Autoimmunity |
|
Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Jaundice, Autoimmune hemolyti... |
OMIM:619573 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
| Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Narr... |
OMIM:235510 |
| Mosaic Trisomy 9 |
|
Cleft palate, High palate, Intrauterine growth retardation, Asplenia, Webbed neck, Intestinal mal... |
ORPHA:99776 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Short stature, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Pearson Syndrome |
|
Neutropenia, Splenomegaly, Postnatal growth retardation, Steatorrhea, Pancytopenia, Bone marrow h... |
ORPHA:699 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
| X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Meckel diverticulum |
ORPHA:777 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Unusual skin infection |
ORPHA:449280 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocytopenia |
ORPHA:391673 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Diarrhea, B... |
OMIM:619381 |
| Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Short stature, Macroglossia, Anal atresia, Myeloprolife... |
OMIM:190685 |
| Zygomycosis |
|
Colon perforation, Neutropenia, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Diarrh... |
ORPHA:73263 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Acanthocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Dia... |
ORPHA:96180 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Insulin-resistan... |
ORPHA:2298 |
| Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Argininemia |
|
Hepatomegaly, Portal fibrosis, Vomiting, Micronodular cirrhosis, Postnatal growth retardation, Ch... |
OMIM:207800 |
| Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Postnatal gr... |
ORPHA:288 |
| Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
| Whim Syndrome |
|
Abnormality of the small intestine, Neutropenia, Lymphadenitis, Parotitis, Lymphopenia, Abnormali... |
ORPHA:51636 |
| Abetalipoproteinemia |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Acanthocytosis, Anemia, ... |
ORPHA:14 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Cleft palate, High palate, Intestinal malrotation, Recurrent skin infections, Hiatus hernia, Abno... |
OMIM:601776 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Diabetes mellitus, Increased mean corpuscular hemoglobin concentr... |
ORPHA:90041 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Rhizomelia, Meckel diverticulum, Short stature |
OMIM:602613 |
| Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Cleft palate, High palate, Abnormality of mesentery morphology, Malrotation of small bowel, Recur... |
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 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Meckel diverticulum, Pancreatic cysts, Short stature, Seborrheic dermatitis, Anemia... |
OMIM:274000 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Cleft palate, Growth delay, Duodenal stenosis, Short stature, Anal atresia, Anal ste... |
OMIM:617063 |
| Storm Syndrome |
|
Fat malabsorption |
OMIM:185069 |
| Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Increased T cell count, Anemia, Abno... |
ORPHA:797 |
| Tarp Syndrome |
|
