Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Failure to thrive, Splenomegaly, Enterocolitis, Anemia, Reduced na... |
OMIM:616050 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-pos... |
OMIM:619510 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... |
OMIM:304790 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... |
ORPHA:90362 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... |
OMIM:614700 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... |
OMIM:209920 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Netherton Syndrome |
|
Villous atrophy, Hypereosinophilia, Failure to thrive, Recurrent infection of the gastrointestina... |
OMIM:256500 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... |
OMIM:602579 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... |
OMIM:614602 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Failure t... |
OMIM:557000 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... |
ORPHA:567983 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volu... |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ... |
ORPHA:391487 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, High palate, Bifid uvula |
OMIM:601110 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Increased mean platelet volume, Splenom... |
OMIM:222470 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... |
ORPHA:2070 |
Mirage Syndrome |
|
Cryptorchidism, Esophageal stricture, Thrombocytopenia, Hypoplastic spleen, Leukopenia, Gastroeso... |
OMIM:617053 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Steatorrhea, Thrombocytosis, Failure to thrive, ... |
OMIM:212065 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia |
OMIM:602361 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... |
OMIM:600901 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... |
OMIM:227645 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Esophageal atresia, Thrombocytopenia, Pr... |
OMIM:227646 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Periportal fibrosis, Hypoplasia of the ovary, Gastroesophageal ref... |
ORPHA:79328 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Gaisböck Syndrome |
|
Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes... |
ORPHA:90041 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... |
ORPHA:51636 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
|
ORPHA:404493 |