Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Sp... |
OMIM:612714 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Wolman Disease |
|
Hepatomegaly, Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Esophageal varix,... |
ORPHA:75233 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esopha... |
OMIM:278000 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Splenomegaly, Episodic vomiting, Reduced natural killer cell activity, Feeding dif... |
OMIM:616050 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Hypoglossia With Situs Inversus |
|
High palate, Narrow mouth, Hypodontia, Micrognathia, Feeding difficulties in infancy, Malnutritio... |
OMIM:612776 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... |
ORPHA:2070 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Diarrh... |
OMIM:607765 |
Immunodeficiency 31C |
|
Lymphopenia, Diarrhea, Villous atrophy, Autoimmune hemolytic anemia, Abnormal intestine morphology |
OMIM:614162 |
Squamous Cell Carcinoma Of The Esophagus |
|
Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy... |
ORPHA:100025 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Jau... |
OMIM:235555 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Diarrhea, Hepatitis, Intrahe... |
OMIM:613812 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Villous atrophy, Prote... |
OMIM:602579 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T... |
ORPHA:277 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Tube feeding, Lymphopenia, Decreased circulating IgG level, Decr... |
OMIM:619510 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Refractory Celiac Disease |
|
Malabsorption, Abdominal pain, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macroc... |
ORPHA:398063 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Hypercholesterol... |
OMIM:615863 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... |
ORPHA:93941 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splenomegaly, Decrease... |
OMIM:614700 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, Enterocolitis, Inte... |
OMIM:243150 |
Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Narrow mouth, Gastroesophageal reflux, Cleft palate, Micrognathia, Sho... |
OMIM:617746 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Enlarged ... |
OMIM:606367 |
Chylomicron Retention Disease |
|
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Hypocholesterolemia, Incre... |
ORPHA:71 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Malar flattening, Steatorrhea |
OMIM:266510 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... |
ORPHA:90362 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Diarrhea, Enamel hyp... |
OMIM:240300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Infantile Systemic Hyalinosis |
|
Malabsorption, Gingival overgrowth, Feeding difficulties, Steatorrhea, Abnormality of the gastroi... |
ORPHA:2176 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Trichohepatoneurodevelopmental Syndrome |
|
High palate, Cholelithiasis, Decreased liver function, Gastroesophageal reflux, Hepatomegaly, Mac... |
OMIM:618268 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... |
OMIM:619445 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Folate Malabsorption, Hereditary |
|
Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Oral ulcer, Neutropenia, Th... |
OMIM:229050 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Delayed eruption o... |
ORPHA:811 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... |
ORPHA:99976 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... |
OMIM:618534 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Chylomicron Retention Disease |
|
Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Malnutrition |
OMIM:246700 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Diarrhea, Vom... |
OMIM:212750 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... |
OMIM:300400 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... |
ORPHA:2930 |
Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal f... |
OMIM:164280 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Vil... |
OMIM:209920 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Jaundice, Feeding difficultie... |
ORPHA:275761 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Hypertriglyceridemia, Esophagea... |
ORPHA:75234 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Narrow palate, Tooth agenesis, Cryptorchidism, Micrognathia, Abnormality of neurona... |
ORPHA:2063 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, ... |
OMIM:619802 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Primary Ciliary Dyskinesia |
|
Intestinal malrotation, Chronic sinusitis, Polysplenia, Abnormal sperm motility, Asplenia |
ORPHA:244 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Extramedullary hematopoiesis, Hepatic failure, C... |
ORPHA:79303 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... |
OMIM:613662 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Bile Acid Malabsorption, Primary, 2 |
|
Prolonged neonatal jaundice, Periportal fibrosis, Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Abdominal pain, Splenomegaly, Nause... |
ORPHA:42642 |
Reticular Dysgenesis |
|
Malabsorption, Leukopenia, Diarrhea, Abnormality of neutrophils, Decreased circulating antibody l... |
ORPHA:33355 |
Coproporphyria, Hereditary |
|
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Increased fecal cop... |
OMIM:121300 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... |
OMIM:618986 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... |
ORPHA:210122 |
Variant Abeta2M Amyloidosis |
|
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... |
ORPHA:314652 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... |
OMIM:614602 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Iron defic... |
OMIM:269200 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Hypoplastic spleen, Ankyloglossia, Asplenia |
OMIM:602361 |
Isolated Agammaglobulinemia |
|
Malabsorption, Sinusitis, Diarrhea, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Cachexia, Mediastinal lymphadeno... |
ORPHA:83469 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen |
ORPHA:2487 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Steatorrhea, Diar... |
OMIM:212065 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancrea... |
OMIM:617941 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft palate, Micrognathia, Abdominal situs inversus, Feeding difficulties in infancy, Cleft lip,... |
OMIM:619123 |
Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Polymicrogyria, Biliary tr... |
OMIM:156810 |
Glucagonoma |
|
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Increased circulating prolactin concentration,... |
ORPHA:97280 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Decreased proportion of naive T cells, Colitis,... |
OMIM:619381 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis, Hypodontia, Lymphopenia, Abdominal distention, Anemia, Impaired T c... |
ORPHA:1830 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... |
OMIM:208540 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... |
OMIM:616100 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Steatorrhea |
OMIM:615558 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... |
ORPHA:2198 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Neutropenia, ... |
OMIM:557000 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... |
ORPHA:98850 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... |
OMIM:603552 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... |
OMIM:605258 |
Cherubism |
|
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... |
OMIM:118400 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Reduced progressive sperm motility, Intestinal malrotation, Chronic sinusitis, ... |
OMIM:619608 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... |
OMIM:301078 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Somatostatinoma |
|
Hepatomegaly, Constipation, Steatorrhea, Neoplasm of the small intestine, Diarrhea, Increased cir... |
ORPHA:97283 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Solitary median maxillary central incisor, Intestinal malrotation, Asplenia |
OMIM:619657 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... |
OMIM:615767 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Netherton Syndrome |
|
Decreased circulating IgG level, Intestinal atresia, Villous atrophy, Hypereosinophilia, Abnormal... |
OMIM:256500 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Intestinal malrotation, Micrognathia, Abnormal liver lobulation, Crypt... |
ORPHA:99776 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Pyloric s... |
OMIM:300048 |
Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Meconium ileus... |
OMIM:219700 |
Reynolds Syndrome |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Lip telangiectasia, Gastrointestinal hemorrhage, Jaundic... |
OMIM:613471 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis, Oral ulcer |
OMIM:618287 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... |
ORPHA:440713 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Micrognathia, Abnormality of the spleen, Oral cleft, Esophage... |
ORPHA:1305 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Panhypoga... |
OMIM:600802 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... |
ORPHA:699 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea |
OMIM:617308 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Hepatic failure, Cirr... |
ORPHA:567983 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Feeding difficulties, 4-layered lissencephaly, Abnormality of neuronal migrati... |
ORPHA:89844 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Eruption failure, Supernumerary tooth, Multiple gastric polyps, He... |
OMIM:175100 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Adenomatous colonic polyposis, Supernumerary tooth, Multiple gastric po... |
ORPHA:79665 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreas... |
OMIM:618495 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice |
ORPHA:172 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Diarrhea, Intrahepatic cholestas... |
OMIM:601847 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, O... |
ORPHA:733 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Sple... |
ORPHA:77297 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Jaundice, Fee... |
OMIM:619573 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Abnormal... |
OMIM:615952 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... |
OMIM:308240 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh... |
ORPHA:26790 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cholestasis, Hepatic fibrosis, Stillbirth, Asplenia |
OMIM:615415 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... |
ORPHA:298 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Villous atrophy, Increased circulating IgE level, Bloody diarrhea |
OMIM:614328 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Hepatomegaly, Splenomegaly, Lymphopenia, Cir... |
ORPHA:84064 |
Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Persistence of hemoglo... |
OMIM:260400 |
Trichohepatoenteric Syndrome 1 |
|
Wide mouth, Narrow mouth, Intractable diarrhea, Hepatomegaly, Splenomegaly, Hepatic failure, Cirr... |
OMIM:222470 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... |
OMIM:600351 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Recurrent tonsillitis, Cerv... |
ORPHA:2686 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Feeding difficulties, Eclabion, Carious teeth, Pylo... |
OMIM:616395 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Narrow mouth, Malar flattening, Steatorrhea, Short philtrum, Decreased testicular size, Neutropen... |
OMIM:601347 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Intrahepatic cholestasis, Bile du... |
OMIM:602347 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, Ileoileal intussusception, C... |
OMIM:619377 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Sinusitis, Decreased circulating IgA level, Macroglossia, Malar flattening, Microg... |
OMIM:242860 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Immunodeficiency 102 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:301082 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... |
OMIM:175500 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
48,Xxyy Syndrome |
|
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... |
ORPHA:10 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... |
OMIM:240500 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Polysplenia, Decreased response to growth hormone stimulation test |
OMIM:617784 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splen... |
OMIM:618394 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Hepatomegaly, Pancreatitis, Decreased response to growth ho... |
ORPHA:470 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Oral-phar... |
ORPHA:100083 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea, Decreased circulating cortisol level |
OMIM:600955 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Poor suck, Abnormality of the dentition, Micrognathia, Long philtr... |
ORPHA:476126 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Anal atresia, Duodenal atresia, Meckel diverticulum, Cleft palate, Intestinal m... |
OMIM:265380 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Enterocolitis, Hepatosplenomeg... |
ORPHA:391487 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Cutaneous abscess, Decreased circulating IgA level, Lymphopenia, Persistence of prim... |
OMIM:619752 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circ... |
ORPHA:331206 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Int... |
OMIM:211600 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Eosinophilia, X... |
ORPHA:449432 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... |
ORPHA:1876 |
Stormorken Syndrome |
|
Short stature, Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition |
ORPHA:3238 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Colitis, Recurrent infection of the gastrointestinal tract, Lymphocytosis, Abnormality of the lym... |
ORPHA:911 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Cog7-Cdg |
|
Narrow mouth, Hepatomegaly, Feeding difficulties, Retrognathia, Micrognathia, Hepatosplenomegaly,... |
ORPHA:79333 |
Dyskeratosis Congenita |
|
Hepatomegaly, Hepatic failure, Tracheoesophageal fistula, Abnormality of the dentition, Carious t... |
ORPHA:1775 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... |
ORPHA:209964 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth |
OMIM:183300 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormal intestine morphology, Diarrhea, Vomiting |
OMIM:606528 |
Hennekam Syndrome |
|
Malabsorption, Tooth agenesis, Gingival overgrowth, Narrow mouth, Supernumerary tooth, Splenomega... |
ORPHA:2136 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Constipation, Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Meckel Syndrome, Type 1 |
|
Cleft upper lip, Anal atresia, Wide mouth, Cleft palate, Splenomegaly, Intestinal malrotation, Mi... |
OMIM:249000 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, Cleft palate, Splenomegal... |
ORPHA:3473 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Micrognathia, Anterior hypopituitarism, Delayed erupti... |
ORPHA:2863 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Intestinal ... |
ORPHA:343 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Diarrhea, B lymphocytopenia, Inflammation of the large intestine, T lymphocytopenia, D... |
OMIM:618108 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Decreased circulating antibody level, Natal tooth |
ORPHA:99811 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Thin upper lip vermilion, Hepat... |
OMIM:616263 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Anal atresia, Cleft palate, Micrognathia, Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... |
OMIM:273050 |
Abetalipoproteinemia |
|
Hepatomegaly, Steatorrhea, Anemia, Cirrhosis, Vomiting, Acanthocytosis, Hypocholesterolemia, Hepa... |
ORPHA:14 |
Kaposi Sarcoma |
|
Diarrhea, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymph... |
ORPHA:33276 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Decreased circ... |
OMIM:615122 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Ileal ulcer, Hemolytic anemia, Oral ulcer, Thrombocytopenia |
OMIM:616744 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Atrophic gastritis, Xerostomia, Autoimmune thrombocytopenia, Macrocytic anem... |
ORPHA:227990 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... |
ORPHA:309031 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Wide mouth, Gastroesophageal reflux, Hiatus hernia, Supernumerary nip... |
ORPHA:2896 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Stromme Syndrome |
|
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Micrognathia, Accessory splee... |
OMIM:243605 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intestinal obst... |
ORPHA:131 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Abdominal distention, Anemia, Diarrhea, Long philtrum, Vo... |
OMIM:608104 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
American Trypanosomiasis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Achalasia, Lymphadenopathy, Aganglionic meg... |
ORPHA:3386 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Gapo Syndrome |
|
Eruption failure, Hepatomegaly, High, narrow palate, Abnormality of the dentition, Micrognathia, ... |
OMIM:230740 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... |
ORPHA:79456 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Hepatomegaly, Abdominal distention, Cleft palate, Splenom... |
OMIM:235255 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Melioidosis |
|
Splenic abscess, Abnormality of the spleen, Brain abscess, Liver abscess, Hepatitis, Lung abscess... |
ORPHA:31202 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomega... |
ORPHA:50918 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Lymphadenitis, Severe periodontitis, Abnormality of the small intestine, ... |
ORPHA:51636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeni... |
OMIM:618935 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Sinusitis, Glossoptosis, Abnormality of the lymphatic system, Abnormality of the t... |
ORPHA:47 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Lymphopenia, Hepatomegaly... |
ORPHA:276 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Abdominal pain, Steatorrhea, Pancreatic pseudocy... |
OMIM:167800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, ... |
OMIM:102700 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Retrognathia, ... |
OMIM:614576 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Macroglossia, Splenomegaly, Hepatosplenomegaly, Diarrhea, Delayed eruption of teeth... |
OMIM:309900 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Xerostomia, Autoimmune hypoparathyroidism, Atrophic gastritis, Autoimmune th... |
ORPHA:227982 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Lymphopenia, Decreased circulating IgG level, Decreased cir... |
ORPHA:169160 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly, Decrea... |
ORPHA:35078 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain, Swollen lip |
OMIM:619367 |
Sapho Syndrome |
|
Malabsorption, Abdominal pain, Steatorrhea, Inflammation of the large intestine, Craniofacial ost... |
ORPHA:793 |
Autosomal Agammaglobulinemia |
|
High palate, Malabsorption, Sinusitis, Diarrhea, Hepatitis, Neutropenia, Agammaglobulinemia |
ORPHA:33110 |
Elsahy-Waters Syndrome |
|
High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... |
OMIM:211380 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Renpenning Syndrome |
|
Anal atresia, Severe short stature, High, narrow palate, Cleft palate, Cachexia, Decreased testic... |
ORPHA:3242 |
Atresia Of Small Intestine |
|
Failure to thrive, Short stature, Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia,... |
ORPHA:1201 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Diarrhea, Hepatomegaly |
OMIM:261750 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Hiatus hernia, Persistence of primary teeth, Feeding difficulties, Persi... |
OMIM:619769 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... |
ORPHA:319487 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Malabsorption, Sinusitis, Recurrent infection of the gastr... |
ORPHA:83471 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... |
ORPHA:2325 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Hepatomegaly, Ev... |
OMIM:618342 |
Alg6-Cdg |
|
Feeding difficulties, Macroglossia, Protein-losing enteropathy, Jaundice, Abnormality of the liver |
ORPHA:79320 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Pseudoaminopterin Syndrome |
|
High palate, Poor suck, Micrognathia, Short philtrum, Microdontia, Oral cleft, Nasogastric tube f... |
ORPHA:221120 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Gingival bleedi... |
ORPHA:33226 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... |
ORPHA:97290 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Enteric Anendocrinosis |
|
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension |
ORPHA:83620 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Protein-losing enteropathy, Cryptorchidism |
OMIM:618440 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Johanson-Blizzard Syndrome |
|
Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Abnormality of the dentition, Oli... |
ORPHA:2315 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Hepatic... |
OMIM:619858 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Al Amyloidosis |
|
Increased circulating antibody level, Hepatomegaly, Abdominal distention, Macroglossia, Xerostomi... |
ORPHA:85443 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Absent frontal sinuses, Asplenia |
OMIM:244400 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Micrognathia, ... |
ORPHA:819 |
Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Anemia, Leukopenia, Esophageal stricture, Hypoplastic splee... |
OMIM:617053 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Extrahepatic cholestasis, Abd... |
ORPHA:1333 |
Tetrasomy 12P |
|
Cachexia, Anal atresia, Abnormal soft palate morphology, Short stature |
ORPHA:884 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Aphthous ulcer, I... |
OMIM:266600 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Hepatic fibrosis, Protein-losing ente... |
ORPHA:79319 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased liver function, Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abnor... |
ORPHA:85450 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Gastrointestina... |
ORPHA:3452 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Premature loss of teeth, Periodontitis, Recurrent infection of the gastrointestinal tract, Lympho... |
ORPHA:486 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Mediastinal lymphaden... |
OMIM:181000 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Diarrhea, Neutropenia |
OMIM:613501 |
Otopalatodigital Syndrome, Type I |
|
Narrow mouth, Malar flattening, Cleft palate, Multiple impacted teeth, Absent frontal sinuses, Se... |
OMIM:311300 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Micrognathia, Accessory sple... |
ORPHA:564 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... |
ORPHA:79124 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Persistence of primary teeth, Eosinophilia, Cutaneous abscess, Increased circulating... |
OMIM:147060 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy |
OMIM:141300 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Lig4 Syndrome |
|
Malabsorption, Hepatomegaly, Leukocytosis, Thin vermilion border, Micrognathia, Pancytopenia, Cry... |
ORPHA:99812 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Macroglossia, Glossitis, Chronic diarrhea, Lymphadenopathy, Poor appetite |
ORPHA:2221 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia |
OMIM:618093 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o... |
OMIM:618761 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Cachexia, Intrauterine growth retardation |
ORPHA:1133 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... |
OMIM:613489 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Bile duct prolife... |
ORPHA:79302 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Intrauterine growth retardation, Aganglionic megacolon |
ORPHA:1438 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... |
OMIM:615710 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted teeth |
ORPHA:2645 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
X-Linked Non-Syndromic Intellectual Disability |
|
Long philtrum, Delayed eruption of teeth, Pyloric stenosis, Thin upper lip vermilion, Meckel dive... |
ORPHA:777 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... |
ORPHA:3162 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth |
OMIM:613849 |
Eiken Syndrome |
|
Eruption failure, Persistence of primary teeth, Short philtrum, Oligodontia, Multiple unerupted t... |
OMIM:600002 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Narrow mouth, Hypodontia, Micrognathia, Poor appetite, Delayed eruption of prim... |
OMIM:619322 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... |
ORPHA:424019 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin... |
OMIM:226300 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic... |
ORPHA:1655 |
Typhoid |
|
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Gastrointestinal hemorrhage |
ORPHA:99745 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... |
OMIM:214900 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss, Gastroesophageal reflux |
ORPHA:930 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Fat malabsorptio... |
OMIM:214950 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Anemia, Diarrhea, Mediastinal lymphadenopathy,... |
ORPHA:169105 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Moynahan Syndrome |
|
Cachexia, Short stature |
ORPHA:2574 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Sinusitis, Neutropenia, Recurrent infection of the gastrointestinal trac... |
ORPHA:572 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Gingival overgrowth, Narrow palate, Narrow mouth, Malar flattening, Thyroid lymp... |
OMIM:235510 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
48,Xxxy Syndrome |
|
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... |
ORPHA:96263 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Diarrhea, Abnormal erythrocyte e... |
ORPHA:370 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Sialadenitis, Orchitis, Pancreatitis, Eosinophilia, Increased circulating IgG4 level, ... |
ORPHA:449563 |
Trisomy 9P |
|
Downturned corners of mouth, Impacted tooth, Dental crowding, Non-midline cleft lip |
ORPHA:236 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Feeding difficulties in infanc... |
OMIM:618825 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... |
ORPHA:2712 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Christianson Syndrome |
|
Dysphagia, Cachexia, Gastroesophageal reflux |
ORPHA:85278 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Abnormal salivary gland morphology, Thrombocytopenia... |
ORPHA:79078 |
Heterotaxy, Visceral, 5, Autosomal |
|
Duodenal atresia, Intestinal malrotation, Abdominal situs inversus, Abdominal situs ambiguus, Asp... |
OMIM:270100 |
Familial Mediterranean Fever |
|
Malabsorption, Orchitis, Pancreatitis, Constipation, Splenomegaly, Abdominal pain, Acute hepatic ... |
ORPHA:342 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Acute hepatitis, Hemophagocytosis, Abdominal pain, Hepatosplenomegaly,... |
ORPHA:39812 |
Cranioectodermal Dysplasia 4 |
|
Bone marrow hypocellularity, Taurodontia, Smooth philtrum, Thin vermilion border |
OMIM:614378 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Abnormality of the dentition, Anisocytosis, Diarrhea, Malar pr... |
ORPHA:231226 |
49,Xxxxy Syndrome |
|
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... |
ORPHA:96264 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Diarrhea, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice |
ORPHA:858 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Retrognathia, Micrognathia, Poor suck, Nasogastric tube feeding, Dysphagia,... |
ORPHA:163961 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Hepatomegaly, Vomiting |
OMIM:605911 |
Selective Igm Deficiency |
|
Crohn's disease, Neutropenia in presence of anti-neutropil antibodies, Recurrent infection of the... |
ORPHA:331235 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Abdominal distention, Abdominal pain, Leukopenia, Diarrhea, Abnormality of the gastr... |
ORPHA:93552 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Anal atresia, Duodenal atresia, Hepatomegaly, Biliary atresia, Abdominal... |
OMIM:306955 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Neutropenia, Abnormality of the dentition, Leukopenia, Aplastic anemia, Esophageal stricture, Hep... |
OMIM:613989 |
Tularemia |
|
Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, A... |
ORPHA:3392 |
Griscelli Syndrome |
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Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat... |
ORPHA:381 |
Mucopolysaccharidosis, Type Iiic |
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Hepatomegaly, Everted lower lip vermilion, Splenomegaly, Diarrhea, Dysphagia |
OMIM:252930 |
Hirschsprung Disease |
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Short stature, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight... |
ORPHA:388 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Chronic gastritis, Colitis, Decreased circulating IgG level, Diarrhea, Inflammation of the large ... |
OMIM:608809 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop... |
OMIM:613179 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
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Gastroesophageal reflux, Feeding difficulties, Intermittent diarrhea, Malnutrition, Mandibular pr... |
OMIM:619971 |
Shigellosis |
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Splenic abscess, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomin... |
ORPHA:810 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Abnormal erythrocyte enzyme level, Hepatocellula... |
ORPHA:264580 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Alg9-Cdg |
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Wide mouth, Hypoplasia of the ovary, Gastroesophageal reflux, Microretrognathia, Periportal fibro... |
ORPHA:79328 |
Cranioectodermal Dysplasia |
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Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... |
ORPHA:1515 |
Progressive Nodular Histiocytosis |
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Cachexia |
ORPHA:158022 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
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Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Micrognathia, Diarrhea... |
ORPHA:2575 |
Benign Schwannoma |
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Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... |
ORPHA:252164 |
Axial Mesodermal Dysplasia Spectrum |
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Anal atresia, Gingival overgrowth, Gastroesophageal reflux, Constipation, Morphological abnormali... |
ORPHA:1834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy |
OMIM:619063 |
Secretory Component Deficiency |
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Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Vascular Hyalinosis |
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Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Recurrent gastroenteritis, Ileus, Malabsorption, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:37042 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Aa Amyloidosis |
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Malabsorption, Hepatomegaly, Abdominal pain, Vomiting, Cholestasis, Abnormal oral mucosa morpholo... |
ORPHA:85445 |
Immunodeficiency 59 And Hypoglycemia |
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High palate, Malabsorption, Hepatomegaly, Micrognathia, Decreased proportion of class-switched me... |
OMIM:233600 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Boutonneuse Fever |
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Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:83313 |
Immunodeficiency 92 |
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Decreased circulating IgA level, Hepatomegaly, Lymphocytosis, Leukocytosis, Decreased circulating... |
OMIM:619652 |
Immunodeficiency 55 |
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Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells |
OMIM:617827 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
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Cachexia |
ORPHA:1216 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophilia, Diarrhea, Gloss... |
ORPHA:90045 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... |
ORPHA:231214 |