| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
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 |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| 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, Hypochromi... |
ORPHA:2133 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Lymphadenopathy, Growth delay, Hepatomegaly, Abnormal small intestine morp... |
ORPHA:100025 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... |
ORPHA:3032 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly |
OMIM:604416 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Diarrhea, Short stature, Fat malabsorption, Hepatocellular carc... |
OMIM:601847 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay, Absence of intrinsic factor |
OMIM:243320 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... |
OMIM:619079 |
| Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:618858 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea |
OMIM:613291 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly |
OMIM:209950 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea |
OMIM:251850 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Chronic diarrhea, Malabsorption, Nausea, Abnormal small intestinal mucosa morphology, D... |
ORPHA:103907 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Pruritus, Periportal fibrosis, Hyp... |
ORPHA:64743 |
| Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Lymphadenopathy, Dys... |
ORPHA:70482 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neo... |
ORPHA:79301 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Elevated hepatic transaminase, Biliary tract abnorma... |
ORPHA:79168 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea, Exocrine pa... |
ORPHA:309108 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Diarrhea, Short stature, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Pr... |
OMIM:211600 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:606176 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Secondary Short Bowel Syndrome |
|
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... |
ORPHA:95427 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly |
OMIM:613490 |
| Atresia Of Small Intestine |
|
Vomiting, Jejunal atresia, Short stature, Intestinal malrotation, Intestinal hypoplasia, Intraute... |
ORPHA:1201 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy |
OMIM:615863 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Projectile vom... |
OMIM:615237 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis |
OMIM:614034 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... |
OMIM:607765 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy, Intractable diarrhea |
OMIM:613217 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Diarrhea, Malabsorpt... |
OMIM:615710 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,... |
OMIM:602347 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Vomiting, Cirrhosis, Diarrhea, Villous atrophy, Hepatic failu... |
OMIM:602579 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestat... |
OMIM:214900 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... |
OMIM:619350 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Short stature, Postnatal growth retardation |
OMIM:614326 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Mpi-Cdg |
|
Hepatic fibrosis, Vomiting, Diarrhea, Gastrointestinal hemorrhage, Hepatomegaly, Decreased liver ... |
ORPHA:79319 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... |
ORPHA:2978 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
| Eosinophilic Gastroenteritis |
|
Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea... |
ORPHA:2070 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Fat mala... |
ORPHA:79302 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Serrated Polyposis Syndrome |
|
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Neoplasm of the large inte... |
ORPHA:157798 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Celiac disease, Delayed puberty, Postnatal growth retardation |
OMIM:618985 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Pruritus, Steatorrhea |
OMIM:607748 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Anemia, Thrombocytosis |
OMIM:226300 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy... |
ORPHA:92050 |
| Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Microvillar PAS-positive s... |
OMIM:619445 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea |
OMIM:277175 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Pyloric stenosis, Increased mean platelet volume,... |
OMIM:300048 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Short stature, Skin ra... |
OMIM:616050 |
| Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... |
ORPHA:398063 |
| Enteric Anendocrinosis |
|
Vomiting, Diarrhea, Malabsorption, Cholestatic liver disease, Portal hypertension |
ORPHA:83620 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Immunodeficiency 31C |
|
Recurrent vulvovaginal candidiasis, Diarrhea, Villous atrophy, Chronic oral candidiasis, Intussus... |
OMIM:614162 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... |
ORPHA:234 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Interface hepatitis, L... |
OMIM:243150 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Thrombocytosis, Lymphopenia |
OMIM:615934 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Cirrhosis, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Hepatomegaly, ... |
OMIM:614602 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran... |
ORPHA:79303 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Short stature, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eosinop... |
OMIM:618999 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Thrombocytosis, Leukocytosis |
ORPHA:134 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly, Postnatal growth... |
OMIM:232700 |
| Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Hepatic steato... |
ORPHA:71 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis, Hepatomegaly |
ORPHA:1759 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Cholecystitis, Intestinal obst... |
ORPHA:131 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... |
OMIM:214950 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Thrombocytosis, Leukocytosis |
ORPHA:20 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Type I diabetes mellitus, Thrombocytosis, Macrocytic anemia |
OMIM:212750 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Pyloric stenosis, Splenomegaly |
ORPHA:664 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... |
ORPHA:263665 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis |
OMIM:614328 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Vomiting, Diarrhea, Thrombocytopenia, Cholestasis, Hepatomegaly, Decreased liver function... |
OMIM:608104 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia |
OMIM:616744 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
| Poems Syndrome |
|
Thrombocytosis, Diabetes mellitus, Polycythemia |
ORPHA:2905 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Alg6-Cdg |
|
Jaundice, Protein-losing enteropathy, Abnormality of the liver, Macroglossia |
ORPHA:79320 |
| Cogan Syndrome |
|
Anemia, Thrombocytosis, Leukocytosis |
ORPHA:1467 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Achalasia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Eczema, Hepatospl... |
OMIM:615952 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Colonic Atresia |
|
Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormality of mesentery morphology, Abdominal ... |
ORPHA:1198 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Alg1-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, ... |
ORPHA:79327 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... |
OMIM:261000 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Pruritus, Periportal fibrosis, Fat malabsorption, Jaundice, Eleva... |
ORPHA:30391 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Vomiting, Chronic diarrhea, T lymphocytopenia, Villous atrophy... |
OMIM:619510 |
| Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Abnormal liver parenchyma morphology, Diarrhea, Dysphagia |
ORPHA:1332 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Intrauterine growth retard... |
OMIM:615190 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Biliary tract abnormality, Protracted diarrhea, Viral hepatitis, ... |
OMIM:209920 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thro... |
OMIM:615688 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Glossitis, Xerostomia, Ham... |
OMIM:175500 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Hepatic fibrosis, Microvesicular hepatic steatosis, Pruritus, Villous ... |
OMIM:619377 |
| Mednik Syndrome |
|
Hepatic fibrosis, Cirrhosis, Jejunal atresia, Diarrhea, Volvulus, Microcolon, Cholestasis, Growth... |
OMIM:609313 |
| Hepatocellular Carcinoma |
|
Anemia, Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Thrombocytopenia |
ORPHA:88673 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... |
OMIM:301074 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea |
ORPHA:103910 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Eczema, Autoi... |
OMIM:304790 |
| Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
| Chronic Granulomatous Disease |
|
Malabsorption, Liver abscess, Pyloric stenosis, Eczema, Abnormality of neutrophils, Tracheoesopha... |
ORPHA:379 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Short stature, Acute leukemia |
ORPHA:281090 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Skin rash, Jaundice, Xero... |
ORPHA:779 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Int... |
ORPHA:1876 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Microvillus Inclusion Disease |
|
Pruritus, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,... |
OMIM:112200 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Jaundice, Ele... |
ORPHA:567983 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ... |
ORPHA:101330 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hardikar Syndrome |
|
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... |
OMIM:301068 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Chronic diarrhea, Chronic oral candidiasis, Villous atrophy, T lymphocyt... |
OMIM:606367 |
| Bronchogenic Cyst |
|
Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
| Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Diarrhea, Villous atrophy |
OMIM:600955 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Oculoskeletodental Syndrome |
|
Short stature, Macroglossia, Hepatomegaly, Protein-losing enteropathy, Splenomegaly |
OMIM:618440 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Intrauterine growth retardation, Dysphagia |
ORPHA:89844 |
| Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Constipation, ... |
OMIM:155310 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... |
ORPHA:90362 |
| Mungan Syndrome |
|
Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Gastroparesis |
OMIM:611376 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
| Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:209981 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphang... |
ORPHA:1655 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... |
ORPHA:436252 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Prot... |
ORPHA:731 |
| Dextrocardia |
|
Pancreatic hypoplasia, Webbed neck, Abnormality of abdominal situs, Intestinal malrotation, Mecke... |
ORPHA:1666 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Atrophic gastritis, Chronic diarrhea, Villous atrophy, Erythema nodosum, B l... |
OMIM:614700 |
| Syndromic Diarrhea |
|
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytopenia, Thrombocytosis, Leukocytosis |
ORPHA:94093 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Splenomegaly |
OMIM:222470 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, High palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic ly... |
OMIM:235255 |
| Cog8-Cdg |
|
Protein-losing enteropathy, Elevated hepatic transaminase |
ORPHA:95428 |
| Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate |
OMIM:190440 |
| Systemic Sclerosis |
|
Gastroesophageal reflux, Gastrointestinal telangiectasia, Recurrent skin infections, Abnormal lar... |
ORPHA:90291 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... |
ORPHA:210122 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Netherton Syndrome |
|
Hypereosinophilia, Villous atrophy, Abnormal intestine morphology, Erythroderma, Intestinal atresia |
OMIM:256500 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Juvenile Polyposis Of Infancy |
|
Rectal prolapse, Anemia, Diarrhea, Short stature, High, narrow palate, Intussusception, Intestina... |
ORPHA:79076 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Leukopenia, Esophageal stricture, Achalasia, Anemia, Short stature, Lymp... |
OMIM:617053 |
| Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intes... |
ORPHA:801 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
| Cat Eye Syndrome |
|
Biliary atresia, Rectal fistula, Short stature, Volvulus, Anal atresia, Intestinal malrotation, M... |
OMIM:115470 |
| Brucellosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:1304 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gas... |
OMIM:174900 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenosis, Annular pancre... |
ORPHA:2470 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Pyloric stenosis, Lymphopenia, Meckel diverticulum, Neutropenia, Intrauterine grow... |
OMIM:616395 |
| Metachromatic Leukodystrophy |
|
Intussusception, Abnormal duodenum morphology, Abnormal stomach morphology, Bowel incontinence, N... |
ORPHA:512 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus, Short stature |
ORPHA:3004 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Diarrhea, Villous atrophy, Inflammatory abnormality of the skin, Hepatitis, Short ... |
ORPHA:391487 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... |
ORPHA:2538 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... |
ORPHA:2929 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Immunodeficiency 17 |
|
Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell morphology, Decreased proportion of ... |
OMIM:615607 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Vomiting, Anemia, Villous atrophy, Reticulocytopenia, Malabsorption, Refractory ... |
OMIM:557000 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Mild postnatal growth retardation, Delayed puberty, Hepatomeg... |
ORPHA:456312 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Hyperinsulinemic hypoglycem... |
ORPHA:2968 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevated hepatic trans... |
ORPHA:811 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hypoplastic spleen, Short stature, Asplenia |
OMIM:602361 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Mild postnatal growth retard... |
OMIM:235510 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia, High palate, Webbed neck, Intestinal malrotation, Cleft pala... |
ORPHA:99776 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Vomiting, High palate, Diarrhea, Villous atrophy, Bifid uvula |
OMIM:601110 |
| Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat... |
OMIM:619573 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H... |
ORPHA:699 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Webbed neck, Cleft palate, Disproportionate short-trunk short stature,... |
OMIM:608022 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Zygomycosis |
|
Diarrhea, Gastritis, Colitis, Hematemesis, Splenic abscess, Unusual gastrointestinal infection, E... |
ORPHA:73263 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Unusual skin infection |
ORPHA:449280 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Hyperglycemia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Diarrhea, T lymphocytopenia, B lymph... |
OMIM:619313 |
| Immunodeficiency 55 |
|
Diarrhea, Short stature, Absent natural killer cells, Eczema, Lymphopenia, Lymphadenopathy, Recur... |
OMIM:617827 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, T lymphocytopenia, Gastritis, Colitis, Recurrent skin infections, Splenomegaly, Villous... |
OMIM:619381 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli... |
ORPHA:2298 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Diarrhea, Short stature, Fat malabsorption, Abnormal erythrocyte morphology, Post... |
ORPHA:96180 |
| Argininemia |
|
Vomiting, Portal fibrosis, Episodic vomiting, Micronodular cirrhosis, Cholestasis, Hepatomegaly, ... |
OMIM:207800 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Morphological abnormality of the gastrointestinal tract, Meckel diverticulum |
ORPHA:2847 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
| Whim Syndrome |
|
Lymphadenitis, Abnormality of neutrophil morphology, Lymphopenia, Parotitis, Abnormal small intes... |
ORPHA:51636 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia |
OMIM:226730 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Eczema, Hepatic steato... |
OMIM:619991 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Vomiting, Cirrhosis, Anemia, Fat malabsorption, Elevated hepatic transaminase, ... |
ORPHA:14 |
| Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Meckel diverticulum, Rhizomelia, Short stature |
OMIM:602613 |
| Doors Syndrome |
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Thrombocytosis |
ORPHA:79500 |
| Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Anemia, Hypoglycemia |
OMIM:609069 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Malrotation of small bowel, Constipation, Abnormality of mesentery morphology, Recur... |
ORPHA:2953 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Congenital shortened small intestine, Esophageal atresia, Pulmonary lymphangiectasia, A... |
OMIM:265380 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Tarp Syndrome |
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Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Extramedullary hematopoiesis, Cleft p... |
ORPHA:2886 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Hepatic failure, Maculopapular exanthema, Anemia, Hem... |
ORPHA:797 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
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Protein-losing enteropathy, Secretory diarrhea, Hematochezia |
OMIM:618183 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Meier-Gorlin Syndrome 7 |
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High palate, Short stature, Anal atresia, Duodenal stenosis, Anteriorly placed anus, Growth delay... |
OMIM:617063 |
| Fryns Syndrome |
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Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Ectopic pancreatic tissue, ... |
OMIM:229850 |
| Fanconi Anemia |
|
Leukopenia, Anemia, High palate, Abnormality of the liver, Short stature, Pyridoxine-responsive s... |
ORPHA:84 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Congenital pyloric atresia, Intestinal atresia, Recurrent skin infections |
ORPHA:79403 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Abnormal duodenum morphology, Intestinal malrotation, Constipation, Recurrent skin i... |
OMIM:601776 |
| Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Anemia, Short stature, Hepatosplenomegaly, Meckel diverticulum, Eosinophilia, L... |
OMIM:274000 |
| Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen, Intrauterine growth retardation, Short stature |
OMIM:601186 |
| Wolf-Hirschhorn Syndrome |
|
Gastroesophageal reflux, Webbed neck, Malrotation of small bowel, Short stature, Biliary tract ab... |
OMIM:194190 |
| Trisomy 8P |
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Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Constipation, Ann... |
ORPHA:264450 |
| Mosaic Trisomy 16 |
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Anteriorly placed anus, Meckel diverticulum, Intrauterine growth retardation, Abnormality of the ... |
ORPHA:1708 |
| Autosomal Recessive Cutis Laxa Type 1 |
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Severe short stature, Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation |
ORPHA:90349 |
| Fraser Syndrome 1 |
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Abnormality of the thymus, Cleft palate, Abnormal small intestine morphology, Abnormality of the ... |
OMIM:219000 |
| Autosomal Dominant Cutis Laxa |
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Vomiting, Small bowel diverticula, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:90348 |
| Down Syndrome |
|
Short stature, Acute megakaryocytic leukemia, Aganglionic megacolon, Anal atresia, Macroglossia, ... |
OMIM:190685 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Viss Syndrome |
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Bifid tongue, Cleft soft palate, Chronic constipation, Bifid uvula, Eczema, Submucous cleft soft ... |
OMIM:619472 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
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Narrow palate, Exaggerated median tongue furrow, Polysplenia, Anal atresia, Macroglossia, Hepatob... |
OMIM:312870 |
| Genitopatellar Syndrome |
|
Malrotation of small bowel, Anal atresia, Anteriorly placed anus, Dysphagia, Anal stenosis |
OMIM:606170 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Vomiting, High palate, Impaired neutrophil chemotaxis, Elevated hepatic transam... |
ORPHA:79318 |
