| Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Diarrhea, Chronic diarrhea, Recurrent infections |
OMIM:614102 |
| Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
| Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Immunodeficiency 104 |
|
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... |
OMIM:608971 |
| Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
| Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Complement Component 4B Deficiency |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Meningitis |
OMIM:614379 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... |
OMIM:613501 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
| Immunodeficiency 19 |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Severe viral infection |
OMIM:615617 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Diarrhea, Recurrent candida infections |
OMIM:269840 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Sepsis, Functional abnorma... |
ORPHA:388 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:606528 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension |
OMIM:610293 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... |
OMIM:602390 |
| Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... |
ORPHA:209964 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Chronic oral candidiasis, Meningitis |
OMIM:616740 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... |
ORPHA:417 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hypogonadism, Hepatic fibrosis,... |
OMIM:613313 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
| Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Recurrent ... |
OMIM:612692 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Coproporphyria, Hereditary |
|
Constipation, Vomiting, Diarrhea, Abdominal pain |
OMIM:121300 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurren... |
ORPHA:169160 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain |
OMIM:620137 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Vomiting, Diarrhea |
OMIM:615863 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... |
OMIM:615767 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:240500 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea |
OMIM:251850 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Recurrent opportunistic infections, Meningitis, Failure to thrive secondary to recurren... |
OMIM:601457 |
| Immunodeficiency 15B |
|
Chronic oral candidiasis, Chronic diarrhea, Recurrent infections |
OMIM:615592 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Chronic ... |
OMIM:615207 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Recurrent... |
OMIM:614699 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... |
OMIM:615234 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Ulcerative colitis, Severe cytomegalovirus infection, Colonic eosinophilia, Dis... |
OMIM:617638 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
| Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Recurrent infections |
OMIM:229050 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Dia... |
OMIM:618495 |
| Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... |
ORPHA:277 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
| Immunodeficiency 7 |
|
Recurrent respiratory infections, Severe varicella zoster infection, Diarrhea, Persistent EBV vir... |
OMIM:615387 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
| Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
| Immunodeficiency, Common Variable, 1 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:607594 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Recurrent infections, Recurrent aphthous stomatitis, Chronic oral ... |
OMIM:150550 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Secretory diarrhea, Recurrent bronchiolitis, Vomiting |
OMIM:616069 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
| Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea |
OMIM:613291 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
| Cog7-Cdg |
|
Diarrhea, Feeding difficulties, Recurrent infections |
ORPHA:79333 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Vomiting, Steatorrhea |
OMIM:246700 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Recurrent respiratory infections, Diarrhea, Vomiting |
OMIM:264350 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... |
OMIM:614069 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Diarrhea, Sepsis |
ORPHA:33355 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Diarrhea, Recurre... |
ORPHA:572 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea |
OMIM:613217 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, ... |
OMIM:619281 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
| Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
| Severe Combined Immunodeficiency, X-Linked |
|
Recurrent bacterial meningitis, Recurrent pneumonia, Chronic diarrhea, Recurrent fungal infection... |
OMIM:300400 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure |
ORPHA:75234 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Diarrhea, Gastritis, Inflammation of the large intestine |
OMIM:618108 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:90035 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Diarrhea, Sepsis, Mening... |
ORPHA:229717 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
| Vascular Hyalinosis |
|
Hematochezia, Diarrhea |
OMIM:277175 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea |
ORPHA:352447 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:178029 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Typhoid |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Infectious encephalitis |
ORPHA:99745 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
| Glutaric Aciduria Iii |
|
Diarrhea, Vomiting |
OMIM:231690 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Vomiting, D... |
ORPHA:319218 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... |
ORPHA:90045 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... |
ORPHA:298 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
| Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Sepsis, Enterocolitis... |
ORPHA:95427 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... |
ORPHA:486 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Patent ductus arteriosus, Diarrhea, Constipation, Gastroesophageal re... |
ORPHA:589821 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea |
OMIM:618523 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurr... |
OMIM:613489 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Invasive fungal infection, Recurrent mycobacterial infections, C... |
ORPHA:98813 |
| Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Chronic oral candidiasi... |
OMIM:616433 |
| Trichohepatoenteric Syndrome 2 |
|
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea |
OMIM:614602 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Poor suck |
OMIM:617788 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Chronic diarrhea |
OMIM:607271 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea |
ORPHA:927 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Eosinophilic Gastroenteritis |
|
Abdominal pain, Diarrhea, Steatorrhea, Hematochezia, Vomiting, Dysphagia |
ORPHA:2070 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Patent ductus arteriosus, Diarrhea |
ORPHA:1842 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... |
OMIM:212140 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... |
ORPHA:100080 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites |
OMIM:253250 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, Fe... |
ORPHA:263501 |
| Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea |
OMIM:176000 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Crohn's disea... |
OMIM:616100 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... |
ORPHA:75233 |
| Alg1-Cdg |
|
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections, Meningitis |
ORPHA:33110 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea |
ORPHA:100924 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
| Rapadilino Syndrome |
|
Diarrhea, Feeding difficulties |
OMIM:266280 |
| Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... |
OMIM:603041 |
| Radiation Proctitis |
|
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia |
ORPHA:70475 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... |
OMIM:617475 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis |
OMIM:612782 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Diarrhea, Gastritis |
ORPHA:2575 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites |
ORPHA:2414 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function |
ORPHA:79319 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Recurrent infections |
OMIM:615084 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:177735 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
| Classic Galactosemia |
|
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... |
OMIM:242700 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Chronic diarrhea, Intestinal inflammation, Severe Epstein Barr virus infection |
OMIM:619858 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Vomiting, Recurrent lower... |
OMIM:226300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
| Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Meningitis, Secretory diarrhea, Enterocolitis, Episodic vomiting |
OMIM:616050 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Patent ductus arteriosus, Diarrhea, Vomiting, Decreased liver function |
OMIM:608104 |
| Immunodeficiency 25 |
|
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Protracted diarrhea |
OMIM:610163 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
| Necrotizing Enterocolitis |
|
Neonatal sepsis, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
| Nk-Cell Enteropathy |
|
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux |
ORPHA:263665 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... |
ORPHA:436159 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain |
ORPHA:65682 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy... |
OMIM:222300 |
| Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Recurrent sinusitis |
OMIM:617765 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
| Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Recurrent bacterial infe... |
OMIM:601495 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Splenomeg... |
ORPHA:64743 |
| Hyperprolinemia Type 2 |
|
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain |
ORPHA:79101 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro... |
OMIM:606003 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus |
OMIM:616589 |
| American Trypanosomiasis |
|
Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia, Infectious encephalitis |
ORPHA:3386 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
| Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Dysphagia |
ORPHA:99824 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Chronic diarrhea, Persistent EBV viremia, Vomiting, Tube feeding |
OMIM:619510 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... |
OMIM:301078 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Immunodeficiency 22 |
|
Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Chronic oral candidi... |
OMIM:615758 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... |
OMIM:278000 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... |
OMIM:116920 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
| Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea |
OMIM:300215 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent infections |
OMIM:619824 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, BCGosis, Recurrent pneumonia, Severe viral infection, Extrapulmonary tuber... |
OMIM:619644 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding |
OMIM:607906 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
| Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function |
OMIM:230400 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Stomatitis, Recurrent... |
OMIM:308230 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Chroni... |
ORPHA:169154 |
| Aa Amyloidosis |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
| Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Protracted diarrhea, Episodic abdomi... |
ORPHA:100093 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Recurrent ear infections, Recurrent viral infections, Diarrhea,... |
ORPHA:79124 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic diarrhea, Persisten... |
OMIM:616005 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
| Kaposi Sarcoma |
|
Recurrent herpes, Diarrhea |
ORPHA:33276 |
| Dengue Fever |
|
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:99828 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... |
OMIM:619802 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Diarrhea, Abdominal pain |
ORPHA:54251 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function |
ORPHA:42 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... |
OMIM:616897 |
| Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
| Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Diarrhea, Episodic abdominal pain, Recurrent infect... |
ORPHA:361 |
| Cronkhite-Canada Syndrome |
|
Diarrhea, Anorexia, Abdominal pain |
ORPHA:2930 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... |
OMIM:223900 |
| Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Abdominal distention, Severe infection, Gastrointe... |
ORPHA:90051 |
| Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... |
ORPHA:39812 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Yao Syndrome |
|
Diarrhea, Xerostomia, Abdominal pain |
OMIM:617321 |
| Legionnaires Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis, Infectiou... |
ORPHA:549 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
| Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252900 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Diarrhea, Hepatic failure, Vomiting, Steatorrhea |
OMIM:602579 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, Vomiting |
OMIM:601110 |
| Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
| Adiposis Dolorosa |
|
Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
| Boutonneuse Fever |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea |
ORPHA:71 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster infection, Meningitis... |
ORPHA:36234 |
| Blue Diaper Syndrome |
|
Diarrhea |
ORPHA:94086 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Abdominal cramps, Decreased live... |
ORPHA:98850 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
| Hyper-Igd Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections, Vomiting, Chronic oral candidia... |
OMIM:260920 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea |
OMIM:600955 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hypersplenism, Thrombocytopenia, ... |
ORPHA:77259 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia |
OMIM:252930 |
| Shigellosis |
|
Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... |
ORPHA:810 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal... |
ORPHA:251066 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... |
ORPHA:100079 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent... |
OMIM:600802 |
| Avian Influenza |
|
Abdominal pain, Diarrhea, Sepsis, Vomiting, Meningitis, Infectious encephalitis |
ORPHA:454836 |
| Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting |
OMIM:560000 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Chronic constipati... |
OMIM:301074 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Gastroe... |
ORPHA:85450 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Dysphagia |
ORPHA:169105 |
| Familial Mediterranean Fever |
|
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... |
OMIM:249100 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite |
ORPHA:2221 |
| Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
| Satoyoshi Syndrome |
|
Diarrhea |
OMIM:600705 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia |
ORPHA:1332 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent gastroenteritis, Chronic oral candi... |
OMIM:615607 |
| Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Chronic diarrhea, Sepsis, Meningitis |
ORPHA:47 |
| Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis |
OMIM:619652 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
| Alg8-Cdg |
|
Diarrhea, Vomiting, Feeding difficulties |
ORPHA:79325 |
| Immunodeficiency 31C |
|
Recurrent respiratory infections, Diarrhea, Coccidioidomycosis, Chronic mucocutaneous candidiasis... |
OMIM:614162 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Poor appetite, Recurrent candida infections |
OMIM:201100 |
| Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent p... |
OMIM:300755 |
| Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
| Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea |
ORPHA:92050 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules |
OMIM:139090 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Hepatic necrosis, Vomiting |
ORPHA:71212 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... |
ORPHA:331206 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Recurrent pneumonia, Chronic diarrhea, Seps... |
OMIM:614700 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia |
OMIM:608013 |
| B4Galt1-Cdg |
|
Diarrhea |
ORPHA:79332 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea |
OMIM:618805 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Patent ductus arteriosus, Chronic diarrhea, Recurrent infect... |
OMIM:614576 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Abdominal pain |
OMIM:617099 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Severe cytomegalovirus infection, Diarrhea |
OMIM:619313 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... |
ORPHA:221139 |
| Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
| Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent ... |
OMIM:301000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Diarrhea, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneou... |
OMIM:102700 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Chronic diarrhea, Sepsis, Recurrent... |
OMIM:617053 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Dpm1-Cdg |
|
Diarrhea, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Abdominal pain, Severe infection, Diarrhea, Secretory diarrhea, Severe viral infec... |
ORPHA:544482 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Steatorr... |
OMIM:212750 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... |
ORPHA:1333 |
| Congenital Myopathy 20 |
|
Chronic diarrhea |
OMIM:620310 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
| Hereditary Angioedema Type 1 |
|
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea |
ORPHA:100050 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| 19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Infectious encephalitis |
ORPHA:3452 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Recurrent infections |
OMIM:300953 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Bloody diarrhea, Recurrent infections, Hematochezia, Inflammation of the lar... |
OMIM:617718 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Constipation |
ORPHA:199299 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting |
ORPHA:263455 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... |
ORPHA:36426 |
| Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Vomiting, Nausea, Recurrent infections |
ORPHA:79240 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... |
ORPHA:342 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Recurrent upper respiratory tract infections, Sepsis, Chronic diarrh... |
OMIM:233600 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis |
OMIM:240300 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Abdominal pain, He... |
ORPHA:73263 |
| Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Diarrhea, Steatorrhea, Recurrent infections |
OMIM:617941 |
| Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea |
OMIM:614328 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction |
OMIM:309900 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
| Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Severe viral infection, Diarrhea, Vomiting, Abdominal cramps, D... |
ORPHA:319213 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... |
OMIM:153670 |
| Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
| Pediatric Systemic Lupus Erythematosus |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:93552 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties |
ORPHA:427 |
| Systemic Capillary Leak Syndrome |
|
Diarrhea, Abdominal pain |
ORPHA:188 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent opportunistic infections,... |
ORPHA:35078 |
| Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea |
ORPHA:139411 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea |
ORPHA:100085 |
| Mevalonic Aciduria |
|
Diarrhea, Vomiting, Recurrent infections |
OMIM:610377 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Vomiting, Nausea, Recurrent infections |
ORPHA:264580 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea |
OMIM:242860 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Abdominal pain |
OMIM:174900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... |
OMIM:608836 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... |
ORPHA:32960 |
| Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Chronic diarrhea, Gastroesopha... |
OMIM:613385 |
| Immunodeficiency 55 |
|
Diarrhea, Recurrent infections |
OMIM:617827 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Chronic diarrhea, Ileus |
OMIM:304790 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
| Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:525731 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abdominal pain, Patent ductus arteriosus, Diarrhea, Hematochezia, Me... |
ORPHA:79076 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... |
OMIM:620233 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematoc... |
OMIM:243150 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
| Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Recurrent infections |
ORPHA:33226 |
| Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:253260 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties |
OMIM:618050 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Vomiting |
OMIM:610768 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:324636 |
| Houge-Janssens Syndrome 1 |
|
Chronic diarrhea |
OMIM:616355 |
| Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain |
OMIM:256700 |
| Omenn Syndrome |
|
Chronic diarrhea, Sepsis |
ORPHA:39041 |
| Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin... |
ORPHA:90362 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Gastritis, Ileus, Secretory diarrhea, Sepsis, Recurrent infecti... |
ORPHA:37042 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... |
OMIM:252940 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation, Recurrent acute respirator... |
ORPHA:95409 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting |
OMIM:275350 |
| Listeriosis |
|
Brain abscess, Unusual skin infection, Abdominal pain, Meningitis, Diarrhea, Peritonitis, Unusual... |
ORPHA:533 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea |
ORPHA:2176 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia |
ORPHA:134 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis |
ORPHA:90038 |
| Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... |
OMIM:615895 |
| Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Vomiting, Meningitis, Infectious encephalitis |
ORPHA:79139 |
| Reactive Arthritis |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... |
ORPHA:29207 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritability, Recurrent infections, Colitis,... |
OMIM:619381 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Hepatocellula... |
OMIM:256810 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... |
ORPHA:500055 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea |
OMIM:212065 |
| Turcot Syndrome With Polyposis |
|
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea |
ORPHA:99818 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurr... |
OMIM:251260 |
| Refractory Celiac Disease |
|
Chronic diarrhea, Malnutrition, Abdominal pain |
ORPHA:398063 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Ileal Neuroendocrine Tumor |
|
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Intermi... |
ORPHA:100078 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
| Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... |
OMIM:219700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Riddle Syndrome |
|
Abdominal pain, Recurrent viral infections, Diarrhea, Recurrent pneumonia, Recurrent sinusitis |
ORPHA:420741 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Chronic diarrhea, Recurrent infections, Feeding difficulties, Gastroeso... |
OMIM:618268 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Diarrhea, Recurrent upper respiratory tract i... |
ORPHA:391487 |
| Citrullinemia Type Ii |
|
Diarrhea, Vomiting |
ORPHA:247585 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea |
OMIM:270420 |
| Rat-Bite Fever |
|
Diarrhea, Sepsis, Vomiting, Meningitis, Parotitis |
ORPHA:31205 |
| Dominant Beta-Thalassemia |
|
Chronic infection, Diarrhea, Feeding difficulties |
ORPHA:231226 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Reye syndrome-like episodes, Diarrhea, Episodic vomiting, Anorexia |
ORPHA:20 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Feeding difficulties, R... |
OMIM:615846 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val... |
ORPHA:581 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
| Melas |
|
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation |
ORPHA:550 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
| Microsporidiosis |
|
Brain abscess, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Vomiting, Bronchi... |
ORPHA:2552 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... |
ORPHA:913 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting |
ORPHA:230 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Dysphagia |
OMIM:616457 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Recurrent infections |
OMIM:601675 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea |
OMIM:226730 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:98849 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition |
ORPHA:96180 |
| Osteootohepatoenteric Syndrome |
|
Episodic vomiting, Increased intestinal transit time, Secretory diarrhea, Abdominal pain |
OMIM:619377 |
| Syndromic Diarrhea |
|
Gastritis, Patent ductus arteriosus, Bloody diarrhea, Recurrent infections, Colitis, Intractable ... |
ORPHA:84064 |
| Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea |
OMIM:222700 |
| Abetalipoproteinemia |
|
Hepatomegaly, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis,... |
ORPHA:14 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea |
ORPHA:99819 |
| Farber Disease |
|
Chronic diarrhea, Hepatic failure, Recurrent upper respiratory tract infections, Feeding difficul... |
ORPHA:333 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties |
OMIM:618183 |
| Beta-Thalassemia Major |
|
Chronic infection, Diarrhea, Feeding difficulties |
ORPHA:231214 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cardiomegaly, Cryptorchidism, Adrenocortic... |
ORPHA:116 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent pneumonia, Chronic ... |
ORPHA:99843 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Chronic diarrhea, Recurrent infections, Vomiting, Steatorrhea, Hepatic failure, Exocrin... |
OMIM:557000 |
| Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Severe infection, Diarrhea, Melena, Vomiting, Nausea |
ORPHA:340 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Secretory diarrhea, Se... |
OMIM:619573 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea |
ORPHA:424 |
| Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... |
ORPHA:707 |
| Distal Renal Tubular Acidosis |
|
Diarrhea, Constipation, Vomiting, Poor appetite |
ORPHA:18 |
| Mitchell-Riley Syndrome |
|
Diarrhea |
OMIM:615710 |
| Cockayne Syndrome Type 1 |
|
Diarrhea |
ORPHA:90321 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni... |
ORPHA:51 |
| Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
| Acrodermatitis Enteropathica |
|
Chronic diarrhea, Poor appetite, Anorexia |
ORPHA:37 |
| Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Meningitis |
ORPHA:2331 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
| Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recurrent infections, Intestinal bleed... |
ORPHA:90363 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Diarrhea, Constipation |
OMIM:162300 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... |
ORPHA:79259 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221008 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Hepatic necrosis, Hepatocellular necrosis, Vomiting, Hepat... |
ORPHA:90062 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena |
ORPHA:464321 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Chronic diarrhea, Exocrine pancreatic insufficiency, Recurrent in... |
OMIM:300972 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent infection of the gastrointestinal t... |
OMIM:612132 |
| Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation |
ORPHA:85138 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Chronic diarrhea |
ORPHA:457279 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Abdominal pain, Severe infection, Odynophagia, Diarrhea, Bloody diarrhea, Vomiting, Nausea |
ORPHA:99826 |
| Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia, Epididymitis, Elev... |
OMIM:256040 |
| Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221016 |
| Dubowitz Syndrome |
|
Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... |
OMIM:223370 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Hurler Syndrome |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
| Alg9-Cdg |
|
Gastroesophageal reflux, Diarrhea, Vomiting |
ORPHA:79328 |
| Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Esophagitis |
OMIM:131100 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Malakoplakia |
|
Diarrhea, Abdominal pain |
ORPHA:556 |
| Mednik Syndrome |
|
Diarrhea |
OMIM:609313 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... |
ORPHA:97282 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Gastroesophageal reflux, Vomiting, Const... |
ORPHA:652 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Recurrent infections, Gastroesophageal reflux, Dy... |
ORPHA:99921 |
| Lysinuric Protein Intolerance |
|
Diarrhea, Feeding difficulties, Recurrent bacterial infections, Vomiting, Steatorrhea, Hepatic fa... |
ORPHA:470 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... |
ORPHA:906 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Feeding d... |
OMIM:615873 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Intestinal bleeding, Bloody diarrhea |
OMIM:175200 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea |
OMIM:613989 |
| Yellow Fever |
|
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Opportunistic infection, Nausea |
ORPHA:99829 |
| Cocaine Intoxication |
|
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea |
ORPHA:90068 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Recurrent abscess formation, Bloody diarrhea |
ORPHA:436252 |
| Multiple Endocrine Neoplasia Type 2 |
|
Abdominal distention, Diarrhea, Constipation |
ORPHA:653 |
| Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea |
OMIM:620072 |
| Ataxia-Telangiectasia |
|
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis |
OMIM:208900 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic constipation, Chronic diarrhea |
OMIM:619005 |
| Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain |
ORPHA:793 |
| Dubowitz Syndrome |
|
Chronic diarrhea, Recurrent infections |
ORPHA:235 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Chroni... |
ORPHA:647 |
| Idiopathic Hypereosinophilic Syndrome |
|
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... |
ORPHA:3260 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Poor appetite |
ORPHA:247598 |
| Gitelman Syndrome |
|
Nausea and vomiting, Diarrhea, Constipation, Abdominal pain |
ORPHA:358 |
| Chikungunya |
|
Diarrhea, Infectious encephalitis, Vomiting |
ORPHA:324625 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Renal tu... |
ORPHA:95455 |
| Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Hepatic failure, Pa... |
ORPHA:99827 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Atrial septal defect, Hypoplasia of penis, Overriding aorta, Hyp... |
ORPHA:904 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
| Deeah Syndrome |
|
Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency |
OMIM:619004 |
| Bartter Syndrome, Type 1, Antenatal |
|
Constipation, Vomiting, Diarrhea |
OMIM:601678 |
| Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Esophagitis, Episodic abdominal pain |
ORPHA:276152 |
| Leptospirosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Meningitis |
ORPHA:509 |
| Pearson Syndrome |
|
Severe infection, Chronic diarrhea, Steatorrhea, Dysphagia, Hepatic failure, Poor suck, Exocrine ... |
ORPHA:699 |
| Scorpion Envenomation |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:466677 |
| Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Hepatic failure |
OMIM:222470 |
| Bartter Syndrome, Type 2, Antenatal |
|
Constipation, Vomiting, Diarrhea |
OMIM:241200 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chronic diarrhea, Recurrent pneumonia, Sepsis |
ORPHA:158668 |
| Zttk Syndrome |
|
Feeding difficulties in infancy, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties |
OMIM:617140 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Feeding difficulties, Vomiting, Dysphagia |
OMIM:606721 |
| Proximal Renal Tubular Acidosis |
|
Diarrhea, Vomiting |
ORPHA:47159 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, P... |
ORPHA:500150 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:580 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Brain abscess, Abdominal pain, Diarrhea, Hematochezia |
ORPHA:2929 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217093 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intermittent diarrhea, Patent ductus arteriosus, Feeding difficulties, Exocrine pancreatic insuff... |
ORPHA:2255 |
| Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting |
ORPHA:217253 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
| Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
| Aspartylglucosaminuria |
|
Recurrent respiratory infections, Diarrhea |
OMIM:208400 |
| Occipital Horn Syndrome |
|
Chronic diarrhea |
OMIM:304150 |
| African Trypanosomiasis |
|
Diarrhea, Vomiting, Nausea |
ORPHA:3385 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diarrhea, Recurrent cutaneous fungal infections, Anorexia |
ORPHA:99889 |
| Viss Syndrome |
|
Chronic gastritis, Abdominal distention, Patent ductus arteriosus, Chronic diarrhea, Feeding diff... |
OMIM:619472 |
