| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| 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 |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
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 |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Growth ... |
ORPHA:100025 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... |
ORPHA:3032 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis |
OMIM:604416 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:618858 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Short stature... |
OMIM:601847 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea |
OMIM:251850 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption |
OMIM:613291 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... |
OMIM:613490 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... |
ORPHA:103907 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy |
OMIM:615863 |
| Small Bowel Atresia |
|
Vomiting, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hy... |
ORPHA:1201 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestasis with e... |
OMIM:211600 |
| Gastroschisis |
|
Volvulus, Intestinal malrotation, Abnormal mesentery morphology, Intrauterine growth retardation,... |
ORPHA:2368 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, ... |
ORPHA:95427 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic fibrosis, Diarrhea, Vomiting, Hepatic failure, Villous atroph... |
OMIM:602579 |
| Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Intestinal atresia |
OMIM:614326 |
| Mpi-Cdg |
|
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, De... |
ORPHA:79319 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... |
ORPHA:2978 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... |
OMIM:615710 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Diarrhea, Hepatic failure, Elevated circulating h... |
OMIM:607765 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... |
ORPHA:157798 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Postnatal growth retardation, Delayed puberty, Short stature, Celiac disease |
OMIM:618985 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... |
OMIM:601346 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatitis, Leukocytosis, An... |
ORPHA:2070 |
| Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... |
OMIM:619445 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Growth delay, Eczematoid dermatitis, Chronic mucocutaneous ... |
OMIM:614162 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal... |
OMIM:616050 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea, Growt... |
OMIM:246700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... |
ORPHA:234 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... |
OMIM:243150 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Lymphopenia, Leukopenia, Thrombocytosis |
OMIM:615934 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Short s... |
OMIM:618999 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... |
ORPHA:92050 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... |
OMIM:620367 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Intrauterine growth retardation, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatom... |
OMIM:614602 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Hypercholanemia, Familial 1 |
|
Steatorrhea, Pruritus, Fat malabsorption |
OMIM:607748 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... |
ORPHA:398063 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Postnatal growth retardation, Elevated circulating hepatic transaminase concentrati... |
OMIM:232700 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Duodenal stenosis |
ORPHA:1759 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Recurrent hypoglycemia, Leukopenia, Leukocytosis, Nonketotic hypoglycemia, Thrombocytosis, Anemia |
ORPHA:20 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Cholestasis, Intrauteri... |
OMIM:608104 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Diarrhea, Hematochezia |
OMIM:277175 |
| Immunodeficiency 115 With Autoinflammation |
|
Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal growth retardation, Intermittent di... |
OMIM:620632 |
| Chylomicron Retention Disease |
|
Vomiting, Growth delay, Diarrhea, Elevated circulating hepatic transaminase concentration, Acanth... |
ORPHA:71 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis |
OMIM:614328 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia |
OMIM:616744 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... |
ORPHA:79303 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Alg6-Cdg |
|
Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice |
ORPHA:79320 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis |
ORPHA:729 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Recurrent skin... |
OMIM:620210 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
| Poems Syndrome |
|
Splenomegaly, Diabetes mellitus, Polycythemia, Thrombocytosis |
ORPHA:2905 |
| Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... |
ORPHA:2494 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolyti... |
OMIM:615952 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Pyloric stenosis |
OMIM:179010 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease... |
ORPHA:79327 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophage... |
ORPHA:44890 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... |
OMIM:619510 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulati... |
OMIM:214950 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Increased intestinal transit ... |
OMIM:619377 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... |
OMIM:155310 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy |
ORPHA:1332 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... |
OMIM:304790 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... |
OMIM:301074 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis... |
OMIM:615688 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
| Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Growth... |
OMIM:609313 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Acute leukemia, Short stature |
ORPHA:281090 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Diarrhea, Hematochezia |
ORPHA:103910 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Cirrhosis, He... |
ORPHA:779 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... |
OMIM:112200 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Leukocytosis, Thrombocytosis |
OMIM:618213 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... |
OMIM:175500 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Biliary tract abnormalit... |
OMIM:209920 |
| Microvillus Inclusion Disease |
|
Diarrhea, Pruritus, Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... |
ORPHA:2357 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... |
OMIM:613027 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... |
OMIM:606367 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Splenomegaly, Hepatomegaly, Macroglossia, Short stature |
OMIM:618440 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... |
OMIM:301068 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:209981 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:182900 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... |
ORPHA:90362 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Dysphagia, Hypoplastic spleen |
ORPHA:89844 |
| Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abno... |
ORPHA:379 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Postnatal growth retard... |
ORPHA:1655 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Autoimmun... |
OMIM:614700 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Intrauterine growt... |
ORPHA:436252 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Dextrocardia |
|
Webbed neck, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestin... |
ORPHA:1666 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Thyroid l... |
OMIM:235255 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Cog8-Cdg |
|
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration |
ORPHA:95428 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Leukopenia, Intrauterine growth retardation, Achalasia, Sho... |
OMIM:617053 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... |
OMIM:615607 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... |
ORPHA:2538 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia, Polysplenia |
OMIM:619608 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Rectal fis... |
OMIM:115470 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Hypereosinophilia, Recurrent infection of the gastrointestinal tract, Vill... |
OMIM:256500 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Intrauterine growth retardation, Abnormal spleen morphology,... |
ORPHA:2470 |
| Brucellosis |
|
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia |
ORPHA:1304 |
| Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juveni... |
ORPHA:2929 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Lymphopenia, Intrauterine growth retardation, Neutropenia, Short stature, Py... |
OMIM:616395 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Growth delay, Hepatitis, Inflammatory abnormality of the skin, Eczematoid dermatitis, C... |
ORPHA:391487 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... |
ORPHA:456312 |
| Gracile Bone Dysplasia |
|
Short stature, Ankyloglossia, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Serkal Syndrome |
|
Malrotation of small bowel, Growth delay |
ORPHA:139466 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia... |
OMIM:235510 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate |
OMIM:601110 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy |
OMIM:600955 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... |
OMIM:619573 |
| Mosaic Trisomy 9 |
|
Webbed neck, Intestinal malrotation, Intrauterine growth retardation, Asplenia, High palate, Clef... |
ORPHA:99776 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Colitis, Neutropenia, Gastrointestinal hemorrhage, Unusual skin infec... |
ORPHA:73263 |
| Diaphanospondylodysostosis |
|
Webbed neck, Intrauterine growth retardation, Disproportionate short-trunk short stature, Cleft p... |
OMIM:608022 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... |
OMIM:619313 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentr... |
OMIM:557000 |
| Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypopla... |
ORPHA:699 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Villous atrophy, Splenomegaly |
OMIM:608776 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Impaired platelet aggregation, Leukocytosis, ... |
ORPHA:2968 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Unusual skin infection |
ORPHA:449280 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
| Kawasaki Disease |
|
Leukocytosis, Thrombocytosis |
ORPHA:2331 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Follicular hyperplasia, Recurrent skin infections, ... |
OMIM:619381 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... |
ORPHA:811 |
| Argininemia |
|
Portal fibrosis, Vomiting, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Epi... |
OMIM:207800 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
| Immunodeficiency 55 |
|
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth re... |
OMIM:617827 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Splenomegaly... |
ORPHA:707 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Whim Syndrome |
|
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m... |
ORPHA:51636 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Ja... |
OMIM:619991 |
| Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Intrauterine growth retardation, High palate, Glossoptosis,... |
OMIM:311900 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosis, Short st... |
ORPHA:96180 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
| Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Abnormal mesentery morphology, Constipation, High palate, Recurrent s... |
ORPHA:2953 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
| Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Acanthocytos... |
ORPHA:14 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... |
OMIM:265380 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Secretory diarrhea |
OMIM:618183 |
| Sarcoidosis |
|
Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Parotitis, Leukopenia,... |
ORPHA:797 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Intrauterine growth retardation, Abnormal duodenum morphology, Glos... |
ORPHA:2886 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Meconium peritonitis, Anal atresia, Sho... |
OMIM:617063 |
| Fryns Syndrome |
|
Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglionic megacolon, Esophageal atres... |
OMIM:229850 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Fanconi Anemia |
|
Meckel diverticulum, Growth delay, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Abnormalit... |
ORPHA:84 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Constipation, Abnormal duodenum morphology, High palate, R... |
OMIM:601776 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Short stature, Hypo... |
OMIM:601186 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Pancreatitis, High palate, Short stature, Narrow palate |
OMIM:620371 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Throm... |
OMIM:274000 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Webbed neck, Malrotation of small bowel, Gastroesophageal reflux, Intrauterine ... |
OMIM:194190 |
| Mosaic Trisomy 16 |
|
Intrauterine growth retardation, Abnormality of the gastrointestinal tract, Meckel diverticulum, ... |
ORPHA:1708 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Annular pancreas, Aplasia/Hypoplasia of the gallbladder,... |
ORPHA:264450 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis |
ORPHA:90349 |
| Fraser Syndrome 1 |
|
Abnormal thymus morphology, Abnormal small intestine morphology, Abnormality of the anus, Cleft p... |
OMIM:219000 |
| Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Intrauterine growth retardation, Vomiting, Small bowel diverticula |
ORPHA:90348 |
| Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Short... |
OMIM:190685 |
| Viss Syndrome |
|
Cleft soft palate, Chronic constipation, Celiac disease, High palate, Dysphagia, Duodenitis, High... |
OMIM:619472 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Polysplenia, Intestinal mal... |
OMIM:312870 |
| Genitopatellar Syndrome |
|
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Anal atresia, Dysphagia |
OMIM:606170 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Impaired neu... |
ORPHA:79318 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Cleft palate |
OMIM:616570 |
| Xeroderma Pigmentosum |
|
Short stature, Thin skin |
ORPHA:910 |
| Cofs Syndrome |
|
Short stature, Intrauterine growth retardation |
ORPHA:1466 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay |
OMIM:278780 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Skin rash |
ORPHA:220295 |
