Immunodeficiency 31C |
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Autoimmune hemolytic anemia, Villous atrophy, Lymphopenia, Abnormal intestine morphology |
OMIM:614162 |
Autoinflammation With Infantile Enterocolitis |
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Failure to thrive, Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocyt... |
OMIM:616050 |
Refractory Celiac Disease |
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Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macrocytic anemia, Iro... |
ORPHA:398063 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytop... |
OMIM:304790 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Failure to thrive, Villous atrophy, Small for gestational age |
OMIM:613217 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Vil... |
OMIM:606367 |
Diarrhea 9 |
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Failure to thrive, Villous atrophy |
OMIM:618168 |
Alpha-Heavy Chain Disease |
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Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Lymphadeno... |
ORPHA:100025 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Failure to thrive, Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large ... |
OMIM:614700 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Lymphopenia, Anemia, Increased stool alpha1-antitrypsin concentration, Abnor... |
ORPHA:90362 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions |
OMIM:619445 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Secondary Short Bowel Syndrome |
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Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... |
ORPHA:95427 |
Netherton Syndrome |
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Failure to thrive, Intestinal atresia, Villous atrophy, Hypereosinophilia, Abnormal intestine mor... |
OMIM:256500 |
Bare Lymphocyte Syndrome, Type Ii |
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Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... |
OMIM:209920 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Congenital Disorder Of Glycosylation, Type Ib |
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Failure to thrive, Hepatomegaly, Steatorrhea, Cirrhosis, Villous atrophy, Protein-losing enteropa... |
OMIM:602579 |
Congenital Tufting Enteropathy |
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Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Osteootohepatoenteric Syndrome |
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Failure to thrive, Microvesicular hepatic steatosis, Anemia, Ileoileal intussusception, Cholestas... |
OMIM:619377 |
Trichohepatoenteric Syndrome 2 |
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Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... |
OMIM:614602 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Pearson Marrow-Pancreas Syndrome |
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Hypoplastic anemia, Failure to thrive, Malabsorption, Neutropenia, Sideroblastic anemia, Exocrine... |
OMIM:557000 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Villous atrophy... |
ORPHA:567983 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Syndromic Diarrhea |
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Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Small for gestational age, Splenomegaly, Hepatom... |
ORPHA:84064 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Duodenitis, Villous atrophy, Failure to thrive |
OMIM:614328 |
Congenital Disorder Of Glycosylation, Type Id |
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High palate, Failure to thrive, Villous atrophy, Bifid uvula |
OMIM:601110 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
Immunodeficiency 87 And Autoimmunity |
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Increased fecal calprotectin level, Lymphopenia, Cleft palate, Small for gestational age, Necroti... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Enterocolitis, Hepatosplenomeg... |
ORPHA:391487 |
Eosinophilic Gastroenteritis |
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Malabsorption, Leukocytosis, Steatorrhea, Anemia, Eosinophilia, Abnormality of the gastrointestin... |
ORPHA:2070 |
Immunodeficiency 82 With Systemic Inflammation |
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Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Splenomegaly, Anemia,... |
OMIM:619381 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Immunodeficiency 17 |
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Recurrent gastroenteritis, Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-posi... |
OMIM:615607 |
Trichohepatoenteric Syndrome 1 |
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Failure to thrive, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Bifid uvula,... |
OMIM:222470 |
Mirage Syndrome |
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Decreased body weight, Gastroesophageal reflux, Lymphopenia, Cryptorchidism, Leukopenia, Esophage... |
OMIM:617053 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Congenital Disorder Of Glycosylation, Type Ia |
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Failure to thrive, Hepatomegaly, Steatorrhea, Thrombocytosis, Villous atrophy, Hepatic fibrosis, ... |
OMIM:212065 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic ... |
OMIM:601847 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Dysphagia, Hypoplastic spleen |
ORPHA:89844 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstr... |
OMIM:300048 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Intr... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaun... |
OMIM:211600 |
Gracile Bone Dysplasia |
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Failure to thrive, Ankyloglossia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Pancreatic Colipase Deficiency |
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Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... |
OMIM:175500 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Visceral Myopathy 2 |
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Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy, Increased mitochondrial number |
OMIM:619063 |
Congenital Short Bowel Syndrome |
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Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis,... |
OMIM:615237 |
Fanconi Anemia, Complementation Group E |
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Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... |
OMIM:600901 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... |
OMIM:227645 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Cryptorchidism, Small for gestational age, Tracheoesophageal fistu... |
OMIM:227646 |
Congenital Disorder Of Glycosylation, Type Ih |
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Failure to thrive, Hepatomegaly, Cryptorchidism, Cholestasis, Protein-losing enteropathy, Anemia,... |
OMIM:608104 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Alg9-Cdg |
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Hypoplasia of the ovary, Gastroesophageal reflux, Periportal fibrosis, Hepatomegaly, Bifid uvula,... |
ORPHA:79328 |
Pearson Syndrome |
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Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... |
ORPHA:699 |
Oculoskeletodental Syndrome |
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Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Protein-losing enteropathy, ... |
OMIM:618440 |
Mpi-Cdg |
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Failure to thrive, Hepatomegaly, Protein-losing enteropathy, Hepatic fibrosis, Portal hypertensio... |
ORPHA:79319 |
Juvenile Polyposis Of Infancy |
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Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonary lymphangiectasia, Protein-losing... |
OMIM:235255 |
Scleroderma |
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Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
Whim Syndrome |
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Lymphopenia, Lymphadenitis, Abnormality of the small intestine, Neutropenia, Parotitis, Abnormali... |
ORPHA:51636 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Narrow palate, Decreased response to growth hormone stimulation test, Cleft p... |
OMIM:618223 |
Vascular Hyalinosis |
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Malabsorption, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Weight loss, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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High palate, Hepatomegaly, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly, Protein-... |
ORPHA:1655 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Abnorm... |
ORPHA:731 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Gaisböck Syndrome |
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Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Systemic Sclerosis |
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Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... |
OMIM:265380 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic ... |
OMIM:619991 |
Fraser Syndrome 1 |
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Cleft palate, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the a... |
OMIM:219000 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Neutropenia |
OMIM:616949 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
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ORPHA:404493 |