| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... |
OMIM:224120 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Anisocytosis |
OMIM:604273 |
| Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Steatorrhea, Weight loss,... |
ORPHA:2070 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
| Pancreatic Colipase Deficiency |
|
Growth delay, Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Colitis, Intrauterine growth retardation, Failure to ... |
OMIM:614602 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Failure to thrive, Short stature, Enterocolitis |
OMIM:616050 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... |
OMIM:615710 |
| Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy |
ORPHA:79320 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Short stature, Hepatocellular carcinoma |
OMIM:601847 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
| Netherton Syndrome |
|
Villous atrophy, Hypereosinophilia, Failure to thrive, Recurrent infection of the gastrointestina... |
OMIM:256500 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Failure to thrive, Protein-losing enteropathy |
ORPHA:79319 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption, Failure to thrive, Short stature |
OMIM:211600 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Immunodeficiency 85 And Autoimmunity |
|
Growth delay, Villous atrophy, Failure to thrive in infancy |
OMIM:619510 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, High palate, Bifid uvula |
OMIM:601110 |
| Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus, Wei... |
OMIM:619377 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Failure to thrive, Protein-losing enteropathy, Intrauterine growth retardation |
OMIM:608104 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Villous atrophy, Ileus, Eosinophilia |
OMIM:304790 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Intrauterine growth... |
OMIM:616395 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Failure to thrive, Acholic stools, Steatorrhea |
OMIM:607765 |
| Chylomicron Retention Disease |
|
Growth delay, Fat malabsorption, Failure to thrive, Steatorrhea |
ORPHA:71 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Fat malabsorption, Failure to thrive, Steatorrhea |
ORPHA:79303 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Adeno... |
ORPHA:79076 |
| Oculoskeletodental Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive |
OMIM:214950 |
| Immunodeficiency 31C |
|
Villous atrophy, Short stature, Weight loss, Gastrointestinal eosinophilia, Growth delay, Protein... |
OMIM:614162 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth retard... |
ORPHA:2470 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Growth delay, Inflammation of the large intestine, Colitis, ... |
OMIM:614700 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight |
OMIM:619769 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Dextrocardia |
|
Meckel diverticulum, Hydrocephalus, Pancreatic hypoplasia, Intestinal malrotation |
ORPHA:1666 |
| Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... |
OMIM:115470 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Postnatal growth retardation, Fat malabsorption, Short stature, Decreased body weight |
ORPHA:96180 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing... |
OMIM:235510 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth r... |
OMIM:311900 |
| Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct prol... |
ORPHA:30391 |
| Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-l... |
ORPHA:1655 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Volvulus, Tracheoesophageal fi... |
ORPHA:210122 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy |
OMIM:606367 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropathy |
OMIM:235255 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
| Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Small for gestational age |
ORPHA:567983 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Steatorrhea, Fail... |
OMIM:557000 |
| Tarp Syndrome |
|
Failure to thrive, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intr... |
ORPHA:2886 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Short stature, Small for gestational age, Colitis, Hypoplasia of the ... |
ORPHA:84064 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Failure to thrive, Steatorrhea |
OMIM:212065 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Short stature, Small for gestational age, Intrauterine growth retardation, Failu... |
OMIM:222470 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Perian... |
OMIM:619573 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a... |
OMIM:229850 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Anteriorly placed anus, Int... |
ORPHA:1708 |
| Lead Poisoning |
|
Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Esophageal carcinoma, Enterocolitis, Growth delay, Abnormal intes... |
ORPHA:391487 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... |
OMIM:617063 |
| Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Short stature, Spina bifida, Aplasia/Hypoplasia of th... |
ORPHA:84 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Protein-losing enteropathy |
OMIM:618183 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis |
OMIM:200995 |
| Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of th... |
ORPHA:264450 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Myelomeningocele, Hydrocephal... |
OMIM:219000 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Hydrocephalus, Malrotation of small bow... |
OMIM:194190 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Failure to thrive, Short stature, Decreased response t... |
ORPHA:811 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... |
ORPHA:731 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
| Alg9-Cdg |
|
Villous atrophy, Rhizomelia, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipple... |
ORPHA:79328 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Weight loss, Colitis, Anoperineal fistula, Crohn's di... |
OMIM:619381 |
| Abetalipoproteinemia |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
ORPHA:14 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... |
ORPHA:73263 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... |
OMIM:601776 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula |
ORPHA:90349 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Spina bifida, Pancreatic cysts, Cleft palate, Meckel diverticulum |
OMIM:274000 |
| Genitopatellar Syndrome |
|
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Colpocephaly, ... |
OMIM:606170 |
| Down Syndrome |
|
Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at... |
OMIM:190685 |
| Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Failure to thrive, Biliary hyperplasia, Hydrocele testis, Protein-losing enter... |
OMIM:619991 |
| Viss Syndrome |
|
Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... |
OMIM:619472 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, H... |
OMIM:312870 |
