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 |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequat... |
OMIM:612714 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Anemia, Abdominal distention, H... |
ORPHA:75233 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... |
OMIM:278000 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Secretory diarrhea, Reduced natural killer cell activity, Panc... |
OMIM:616050 |
Hypoglossia With Situs Inversus |
|
Microglossia, Polysplenia, Malnutrition, Micrognathia, Narrow mouth, Hypodontia, Feeding difficul... |
OMIM:612776 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, S... |
OMIM:607765 |
Squamous Cell Carcinoma Of The Esophagus |
|
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting, Lymphadenopathy |
ORPHA:99977 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Dysgammaglobulinemia, Anemia, L... |
ORPHA:100025 |
Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino... |
ORPHA:2070 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Protein-losing enteropathy, Diarrhea, Hepatic failure, Vomiting, Villous atroph... |
OMIM:602579 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Splenomegaly, Hepatomegaly, Jaundice, Steato... |
OMIM:235555 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... |
ORPHA:92050 |
Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... |
OMIM:223100 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... |
OMIM:618752 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Abnormal small intestin... |
ORPHA:95427 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea |
OMIM:251850 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Malnutrition, Abnorm... |
ORPHA:398063 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pancyto... |
OMIM:614700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy, Hyperlipidemia,... |
OMIM:615863 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Malnutrition, Hypocholesterolemia, Accumulation of lipid droplets in small-bo... |
OMIM:246700 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atro... |
OMIM:304790 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Intestinal obstruction, Rectal atresia, Duodenal atr... |
OMIM:243150 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Peritoneal eff... |
ORPHA:90362 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... |
OMIM:613812 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy,... |
ORPHA:99976 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... |
ORPHA:100024 |
Chylomicron Retention Disease |
|
Vomiting, Diarrhea, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Abdominal distention,... |
ORPHA:71 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Abdominal distention, Vomiting, Decreased circulating IgA level, Recurrent aphthous sto... |
OMIM:212750 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Abnormal dental morphology, Malabsorption, Gingival overgrowth,... |
ORPHA:2176 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... |
ORPHA:811 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... |
OMIM:300400 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Wide mouth |
OMIM:608776 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Hypocholesterolemia, Malar flattening, Steatorrhea |
OMIM:266510 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Malabsorption, Enamel hypoplasia, Chronic active he... |
OMIM:240300 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis... |
ORPHA:83451 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hyp... |
ORPHA:88661 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthelasma, Fatal liver failur... |
ORPHA:275761 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Chr... |
OMIM:613502 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... |
OMIM:620632 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Panhypogammaglobulinemia, Protracted diarrhea, Villous atrophy, Malabsorption, ... |
OMIM:209920 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Polysplenia, Intestinal malrotation, Chronic sinusitis, Asplenia |
ORPHA:244 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy... |
ORPHA:75234 |
Coproporphyria, Hereditary |
|
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... |
OMIM:121300 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, Hepatic steatos... |
ORPHA:79303 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, ... |
OMIM:614162 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Sweeney-Cox Syndrome |
|
Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognathia, Me... |
OMIM:617746 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:614338 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,... |
OMIM:619481 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Cryptorchidism, Abnormal palate morphology, Abnormality of neuronal... |
ORPHA:2063 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... |
OMIM:614470 |
Gracile Bone Dysplasia |
|
Failure to thrive, Ankyloglossia, Short stature, Asplenia, Hypoplastic spleen |
OMIM:602361 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular... |
ORPHA:83469 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Xan... |
ORPHA:186 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... |
OMIM:614602 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Decreased ... |
OMIM:618268 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... |
OMIM:308240 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169154 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen |
ORPHA:2487 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft lip, Abdominal situs inversus, Micrognathia, Cryptorchidism, Feeding difficulties in infanc... |
OMIM:619123 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Decreased circulating IgG level, Diarrhea, Vomiting, Hypocholesterolemia, Decre... |
OMIM:212065 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... |
OMIM:613101 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... |
ORPHA:2930 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... |
OMIM:269200 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Mulibrey Nanism |
|
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature |
ORPHA:2576 |
Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic... |
ORPHA:314652 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... |
ORPHA:397596 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope... |
OMIM:617941 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Follicular hyperplasia, Oral ulce... |
OMIM:619381 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... |
OMIM:615767 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abdominal distention, Abnormal proportion of naive CD4 T cells, Impa... |
ORPHA:1830 |
Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge overgrowth, Jaw swellin... |
OMIM:118400 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... |
OMIM:603552 |
Cystic Fibrosis |
|
Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal... |
OMIM:219700 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss |
OMIM:613662 |
Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Micrognathia, Jejunal atresia, Tracheoesophageal... |
OMIM:164280 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Lip telan... |
OMIM:613471 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Lymphopenia, Decreased circulating... |
OMIM:616100 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Intestinal malrotation, Asplenia, High palate, Solitary median maxillary central incisor |
OMIM:619657 |
Glucagonoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... |
ORPHA:97280 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Conical tooth, Increased ci... |
ORPHA:98813 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hepatic steatosis, Hepatomegaly,... |
OMIM:605911 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia |
OMIM:615558 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic a... |
OMIM:557000 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate |
OMIM:601110 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Micrognathia, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnorm... |
ORPHA:99776 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Oral ulcer, Ileitis |
OMIM:618287 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... |
ORPHA:440713 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... |
OMIM:614034 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Intestinal malrotation, Chronic sinusitis, Reduced progressive sperm motility, Duode... |
OMIM:619608 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly... |
OMIM:618495 |
Somatostatinoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97283 |
Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... |
OMIM:619573 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... |
OMIM:175100 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Decreased cir... |
OMIM:619281 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypopl... |
ORPHA:699 |
Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen, Micrognathia, Orofacial cleft, Esophageal atresia, D... |
ORPHA:1305 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,... |
OMIM:209950 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Hypoplastic ... |
ORPHA:89844 |
Gardner Syndrome |
|
Abnormality of the dentition, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla ... |
ORPHA:79665 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... |
ORPHA:733 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen |
OMIM:185070 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Weight loss, Lymphadenopathy, Abnorm... |
ORPHA:26790 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Hepatic ... |
ORPHA:567983 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... |
OMIM:601847 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormality of the dentition, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased ci... |
OMIM:615952 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Netherton Syndrome |
|
Decreased circulating IgG level, Increased circulating IgE level, Villous atrophy, Recurrent infe... |
OMIM:256500 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea |
OMIM:617308 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Lymphopenia, Absent peri... |
OMIM:600802 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... |
OMIM:613501 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular... |
OMIM:601859 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Duodenal atresia, Polysplenia |
OMIM:617784 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... |
OMIM:603554 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Lymphopenia, Increased... |
OMIM:616395 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the... |
ORPHA:84064 |
Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Carious teeth, Increased circulating IgE level, Lymphopenia, Aph... |
OMIM:620603 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Bifid uvula, Hepatic failure, Intractable diarrhea, Long philtrum, Cholestasis,... |
OMIM:222470 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Increased in... |
OMIM:619377 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... |
ORPHA:436159 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Anemia, Acute myelo... |
OMIM:260400 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... |
ORPHA:2686 |
48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Thick lower lip ver... |
ORPHA:10 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Gastrointestinal dysmotility, Abnormality of the gastrointestinal tract,... |
ORPHA:298 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Lysinuric Protein Intolerance |
|
Hepatic failure, Diarrhea, Vomiting, Hemophagocytosis, Hepatic amyloidosis, Decreased response to... |
ORPHA:470 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level |
ORPHA:37748 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Chr... |
ORPHA:476126 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... |
OMIM:618394 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Chronic diarrhea, Duodenal ulcer, Malabsorption |
ORPHA:3217 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Splenomegaly, Broad philtrum, Thick ve... |
OMIM:616354 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Oral-phar... |
ORPHA:100083 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... |
ORPHA:199306 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Diarrhea, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy, Auto... |
ORPHA:391487 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Immunodeficiency 32A |
|
Granuloma, Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom... |
ORPHA:331206 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa... |
ORPHA:98850 |
Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Retrognat... |
OMIM:265380 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... |
OMIM:603909 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... |
ORPHA:209964 |
Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Decreased circulating cortisol level, Villous atrophy, Malabsorption |
OMIM:600955 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cachexia, Anemi... |
OMIM:175500 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
Zimmermann-Laband Syndrome |
|
Bifid uvula, Anterior open-bite malocclusion, Micrognathia, Splenomegaly, Supernumerary tooth, Hy... |
ORPHA:3473 |
Cog7-Cdg |
|
Diarrhea, Retrognathia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Hepatomegaly, Jaundice, F... |
ORPHA:79333 |
Dyskeratosis Congenita |
|
Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Esophageal stenosis, Hypoplasia of the max... |
ORPHA:1775 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Abnormal intestine morphology, Diarrhea, Feeding difficulties in infancy, Vomiting |
OMIM:606528 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Cleft upper lip, Intesti... |
OMIM:249000 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay |
ORPHA:79238 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Macroglossia, Constipation, Delayed eruption of teeth |
OMIM:614450 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Lymphop... |
ORPHA:2136 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Supernumerary... |
ORPHA:2896 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Vomiting, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Reticulocytos... |
ORPHA:14 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... |
OMIM:618963 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... |
OMIM:615122 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... |
OMIM:615415 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Long philtrum, Cholesta... |
OMIM:608104 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia |
OMIM:616744 |
Congenital Syphilis |
|
Diarrhea, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Malabsorp... |
ORPHA:499009 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
Mucopolysaccharidosis, Type Ii |
|
Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick lower lip vermilion, Wi... |
OMIM:309900 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Kaposi Sarcoma |
|
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnor... |
ORPHA:33276 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
Stromme Syndrome |
|
Accessory spleen, Intestinal malrotation, Micrognathia, Jejunal atresia, Stillbirth, Wide mouth, ... |
OMIM:243605 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Abdominal di... |
ORPHA:309031 |
American Trypanosomiasis |
|
Diarrhea, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly, Abdomina... |
ORPHA:3386 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Diarrhea, Retrognathia, Decreased circulating IgA level, B lymph... |
OMIM:614069 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... |
OMIM:226300 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Cryptorchidism, A... |
ORPHA:2863 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma... |
ORPHA:79456 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, M... |
OMIM:235255 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... |
OMIM:616263 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Melioidosis |
|
Brain abscess, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen, Splenic absces... |
ORPHA:31202 |
Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Broad philtrum, Abdominal diste... |
OMIM:620045 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Dental crowding, Persistence of hemoglobin F, Persistence of primary tee... |
OMIM:619769 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enlargement of pa... |
ORPHA:50918 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Whim Syndrome |
|
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m... |
ORPHA:51636 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc... |
OMIM:614576 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Micrognathia, Adrenal gland agenesis, Asplenia, Anal atresia, Cleft palate |
OMIM:273395 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia, Abnormality of the liver, Jaundice, Feeding difficulties |
ORPHA:79320 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... |
ORPHA:1876 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... |
ORPHA:824 |
Small Bowel Atresia |
|
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Inte... |
ORPHA:1201 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... |
OMIM:167800 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Oral ulcer, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Stom... |
OMIM:308230 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt... |
ORPHA:2325 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... |
OMIM:618342 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, D... |
ORPHA:819 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting, Swollen lip |
OMIM:619367 |
Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Hepatitis, Lymphopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:169160 |
Elsahy-Waters Syndrome |
|
Bifid uvula, Anal stenosis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of t... |
OMIM:211380 |
Pseudoaminopterin Syndrome |
|
Micrognathia, Cryptorchidism, Microdontia, Short philtrum, Nasogastric tube feeding in infancy, O... |
ORPHA:221120 |
Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Acha... |
OMIM:617053 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... |
OMIM:102700 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Oligodontia, Hepatomegaly, Macroglossia |
OMIM:618440 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... |
ORPHA:319487 |
Renpenning Syndrome |
|
High, narrow palate, Severe short stature, Decreased testicular size, Cachexia, Anal atresia, Gro... |
ORPHA:3242 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
Al Amyloidosis |
|
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the l... |
ORPHA:85443 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... |
OMIM:619322 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Asplenia, Chronic sinusitis |
OMIM:244400 |
Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... |
ORPHA:2978 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... |
ORPHA:97290 |
Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Intestinal atresia |
OMIM:614326 |
Gapo Syndrome |
|
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Breast hypoplasi... |
OMIM:230740 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... |
ORPHA:54251 |
Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int... |
OMIM:266600 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... |
ORPHA:98849 |
Folate Malabsorption, Hereditary |
|
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Oral ulcer, Feeding ... |
OMIM:229050 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent i... |
ORPHA:486 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Cholecystitis, In... |
ORPHA:131 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni... |
ORPHA:35078 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Down Syndrome |
|
Narrow mouth, Protruding tongue, Acute megakaryocytic leukemia, Chronic constipation, Open mouth,... |
ORPHA:870 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel... |
OMIM:181000 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Dysphagia, Weight loss |
ORPHA:930 |
Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at... |
OMIM:270100 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Cystic Fibrosis |
|
Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Abnormality of the li... |
ORPHA:586 |
Alexander Disease Type I |
|
Cachexia, Dysphagia, Failure to thrive |
ORPHA:363717 |
Mpi-Cdg |
|
Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting, Diarrhea, De... |
ORPHA:79319 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... |
ORPHA:85450 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H... |
ORPHA:1655 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Trichodentoosseous Syndrome |
|
Taurodontia, Microdontia, Widely spaced teeth |
OMIM:190320 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... |
OMIM:311300 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Splenomegaly, Cachexia, Hepatomegaly, Short stature |
ORPHA:1133 |
Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... |
OMIM:618761 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... |
OMIM:612783 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k... |
ORPHA:79124 |
Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Cryptorchidism... |
ORPHA:564 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... |
OMIM:615710 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... |
OMIM:600002 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... |
ORPHA:1333 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Osteoglosphonic Dysplasia |
|
Multiple unerupted teeth, Micrognathia, Cryptorchidism, Tooth agenesis |
ORPHA:2645 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Isolated Agammaglobulinemia |
|
Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Abnormality of the lymphatic system, Abn... |
ORPHA:229717 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
Sapho Syndrome |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Malabsorption, Steatorrhea, Abd... |
ORPHA:793 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor appetite |
ORPHA:2221 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Polysplenia, Posteriorly placed anus, Biliary atresia, Hepatomegaly, As... |
OMIM:306955 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Constipation, Hepatomegaly, Abdominal pain |
ORPHA:99745 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Tetrasomy 12P |
|
Short stature, Abnormal soft palate morphology, Anal atresia, Cachexia |
ORPHA:884 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Intestinal atresia, Duodenal atresia |
ORPHA:3405 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsorption, Micr... |
OMIM:242860 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile du... |
ORPHA:79302 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Anemia, Abnormality of neu... |
ORPHA:33355 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ... |
OMIM:617638 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Narrow palate, Delayed eruption of teeth, Retrognathia, Intestinal ly... |
OMIM:235510 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
48,Xxxy Syndrome |
|
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula... |
ORPHA:96263 |
Good Syndrome |
|
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Th... |
ORPHA:169105 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepa... |
OMIM:613489 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Chronic constipation, Feeding difficul... |
OMIM:618825 |
Cranioectodermal Dysplasia 4 |
|
Taurodontia, Bone marrow hypocellularity, Smooth philtrum, Thin vermilion border |
OMIM:614378 |
Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
Graft Versus Host Disease |
|
Diarrhea, Vomiting, Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Oral ulcer, ... |
ORPHA:39812 |
Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Taurodontia, Enamel hypoplasia, High palate, Feeding difficulties |
OMIM:618205 |
Christianson Syndrome |
|
Cachexia, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Trisomy 9P |
|
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth |
ORPHA:236 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Abnormality of the dentition, Aplastic anemia, Ora... |
OMIM:613989 |
Congenital Toxoplasmosis |
|
Diarrhea, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice |
ORPHA:858 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman... |
ORPHA:79078 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
49,Xxxxy Syndrome |
|
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula... |
ORPHA:96264 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
Benign Schwannoma |
|
Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g... |
ORPHA:252164 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Diarrhea, Panhypogammaglobulinemia, Lack of T cell function, Protracted d... |
ORPHA:572 |
Immunodeficiency 40 |
|
Focal active colitis, Eosinophilic granuloma, Intermittent diarrhea, Chronic diarrhea, Reduced an... |
OMIM:616433 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... |
ORPHA:388 |
Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Exocrine pancrea... |
ORPHA:2315 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Dominant Beta-Thalassemia |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231226 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... |
ORPHA:2712 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture |
OMIM:616029 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Reduced natural killer cell count, Decreased circulating antibody level, Mono... |
OMIM:615592 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ... |
ORPHA:1834 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... |
ORPHA:331235 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Ch... |
OMIM:615607 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli... |
OMIM:615966 |
Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Abnor... |
ORPHA:93552 |
Igg4-Related Ophthalmic Disease |
|
Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Abnormality of t... |
ORPHA:449563 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Splenomegaly, Everted lower lip vermilion, Hepatomegaly, Dysphagia |
OMIM:252930 |
Cog4-Cdg |
|
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Fatal liver failure in inf... |
ORPHA:263501 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Intermittent diarrhea, Mandibular prognathia, Feeding diff... |
OMIM:619971 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... |
ORPHA:100026 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... |
ORPHA:381 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... |
OMIM:612782 |
Shigellosis |
|
Hepatic failure, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Bl... |
ORPHA:810 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Alg9-Cdg |
|
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Long philtrum, Mic... |
ORPHA:79328 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hepatitis, Failure to thrive in infancy, Ileus, Autoimmune hemolytic anemia, Recurrent gastroente... |
ORPHA:37042 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... |
ORPHA:1515 |
Majeed Syndrome |
|
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... |
ORPHA:77297 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Cholestasis, Hepatic steatosis, Splenomega... |
ORPHA:264580 |
Hereditary Folate Malabsorption |
|
Cheilitis, Gastroesophageal reflux, Diarrhea, Pancytopenia, Nausea and vomiting, Eosinophilia, Me... |
ORPHA:90045 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Aganglionic megacolon, Cachexia, Ileus |
ORPHA:52503 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia |
OMIM:620514 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption |
OMIM:277175 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Micrognathia... |
ORPHA:2575 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Neuroendocrine Neoplasm Of Appendix |
|
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Adenocarcinoma of the ... |
ORPHA:100079 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
Familial Mediterranean Fever |
|
Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L... |
ORPHA:342 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Wide mouth, Cryptorchidism, ... |
OMIM:614607 |
Rubinstein-Taybi Syndrome 2 |
|
Talon cusp, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Micrognathi... |
OMIM:613684 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Cryptorc... |
ORPHA:2470 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Trehalase Deficiency |
|
Abdominal pain, Diarrhea |
OMIM:612119 |
Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Beta-Thalassemia Major |
|
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... |
ORPHA:231214 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gingival bleeding, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M pr... |
ORPHA:33226 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo... |
OMIM:617591 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Retrognathia, Nasogastric tube feeding, Micrognathia, Dysphagia, Feeding dif... |
ORPHA:163961 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ... |
ORPHA:2409 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia, Dysphagia, Volvulus |
OMIM:617802 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Malabsorption, Chronic diarrhea, Abnormality of the lymphatic system, Agammaglobulinem... |
ORPHA:47 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
4H Leukodystrophy |
|
Abnormality of the dentition, Delayed eruption of teeth, Decreased response to growth hormone sti... |
ORPHA:289494 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruction, Gastrointes... |
ORPHA:67 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cell... |
ORPHA:83471 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Cryptorchidism |
ORPHA:2471 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
Osteoglophonic Dysplasia |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Cryptorchi... |
OMIM:166250 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Dental crowding, Increased circulating IgE level, Eosinophilia, Macroglossia, Chronic diarrhea |
OMIM:618523 |
Temple-Baraitser Syndrome |
|
Everted upper lip vermilion, Delayed eruption of teeth, Long philtrum, Gingival overgrowth, Open ... |
ORPHA:420561 |
Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease... |
ORPHA:79327 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Advanced eruption of teeth, Pancreatitis, Hy... |
ORPHA:2348 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegal... |
OMIM:613385 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Neonatal death, Cachexia, High palate, Narrow palate |
OMIM:618186 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Dpm1-Cdg |
|
High, narrow palate, Hepatic fibrosis, Diarrhea, Hepatosplenomegaly, Micrognathia, Tented upper l... |
ORPHA:79322 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp... |
OMIM:300755 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci... |
ORPHA:319218 |
Hyper-Igd Syndrome |
|
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, In... |
OMIM:260920 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Aphthous ulcer, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's dis... |
OMIM:249100 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged... |
OMIM:257200 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:3019 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Mediastinal lymphadeno... |
ORPHA:3452 |
Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:770 |
Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Decr... |
ORPHA:763 |
Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C... |
OMIM:603467 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Autosomal Agammaglobulinemia |
|
Diarrhea, Hepatitis, Malabsorption, Agammaglobulinemia, Neutropenia, Sinusitis, High palate |
ORPHA:33110 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lymphadenopathy, High palate, Decreased cir... |
OMIM:619750 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Weight loss, Hematochezia |
ORPHA:103910 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Iron deficiency anemia, Hepatomegaly... |
OMIM:607906 |
Fryns Syndrome |
|
Microretrognathia, Meckel diverticulum, Polysplenia, Long philtrum, Intestinal malrotation, Cleft... |
OMIM:229850 |
Secondary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... |
ORPHA:90363 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia |
ORPHA:142 |
Coffin-Siris Syndrome 3 |
|
Long philtrum, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border, Macroglos... |
OMIM:614608 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Lissencephaly, X-Linked, 2 |
|
Diarrhea, Long philtrum, Decreased testicular size, Micrognathia, Thin upper lip vermilion, Feedi... |
OMIM:300215 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Purine Nucleoside Phosphorylase Deficiency |
|
Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B cell physiology, S... |
OMIM:613179 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia... |
ORPHA:158061 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly |
OMIM:605309 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Emanuel Syndrome |
|
Broad jaw, Gastroesophageal reflux, Dental crowding, Long philtrum, Intestinal malrotation, Feedi... |
OMIM:609029 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Open mouth, Cryptorchidism, Everted lower lip vermilion, Dysphagia, Bowel inco... |
ORPHA:2152 |
Dengue Fever |
|
Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Nausea and vomiting, Thromb... |
ORPHA:99828 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... |
ORPHA:39041 |
Sepsis In Premature Infants |
|
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... |
ORPHA:90051 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Oral ulcer, Hepatomega... |
OMIM:620376 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Labial melanot... |
OMIM:175200 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... |
ORPHA:1327 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Rapp-Hodgkin Syndrome |
|
Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxilla, Velopharyngeal insufficienc... |
OMIM:129400 |
Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palat... |
OMIM:269860 |
B4Galt1-Cdg |
|
Diarrhea, Long philtrum, Splenomegaly, Thin upper lip vermilion, Hepatomegaly |
ORPHA:79332 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tooth malposition, Open mouth, Cryptorchidism, Dysphagia, Bowel incontinence, Polymicrogyria, Per... |
ORPHA:261537 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Cholestasis, ... |
OMIM:615895 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Duodenal stenosis |
ORPHA:1759 |
Neurofibroma |
|
Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Abnorma... |
ORPHA:252183 |
Zygomycosis |
|
Diarrhea, Ileitis, Colitis, Neutropenia, Abdominal pain, Gastrointestinal hemorrhage, Peritonitis... |
ORPHA:73263 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Co... |
ORPHA:32960 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... |
ORPHA:1666 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hematochezia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune ... |
OMIM:620565 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... |
OMIM:619736 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Gastroesophageal reflux, Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced e... |
OMIM:617865 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... |
ORPHA:1572 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Decreased liver function, Cholestasis, Atretic gallbladder, Hypopituitarism,... |
ORPHA:30391 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... |
ORPHA:90038 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter... |
ORPHA:1332 |
Fryns Syndrome |
|
Gastroesophageal reflux, Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotatio... |
ORPHA:2059 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypodontia, Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... |
ORPHA:100082 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long philtrum |
OMIM:190440 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepato... |
ORPHA:457077 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Reduced natural killer cel... |
ORPHA:540 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Supernumerary tooth |
OMIM:619718 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Eec Syndrome |
|
Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone stimulation test,... |
ORPHA:1896 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos... |
OMIM:301000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Carious teeth, Periodontitis, Xanthelasma, Hepatic... |
ORPHA:79259 |
Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption |
OMIM:606893 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Cryptorchidism, Submucous... |
ORPHA:2250 |
Specific Granule Deficiency 2 |
|
Tooth malposition, Intractable diarrhea, Conical tooth, Absent neutrophil specific granules, Amel... |
OMIM:617475 |
Silver-Russell Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine... |
ORPHA:813 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombocytopenia, Neutrophili... |
OMIM:619644 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Gastrointestinal carcinoma, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal poly... |
ORPHA:247806 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo... |
ORPHA:100078 |
Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Chronic noninfectious lymph... |
ORPHA:100075 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Malar flattening |
OMIM:614592 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Emanuel Syndrome |
|
Broad jaw, Bifid uvula, Tooth malposition, Gastroesophageal reflux, Submucous cleft lip, Delayed ... |
ORPHA:96170 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, ... |
OMIM:603041 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insuffi... |
OMIM:223370 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Wide mouth,... |
OMIM:618506 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Thin ... |
OMIM:620233 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cirrhosis, Neutropenia |
OMIM:604250 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... |
OMIM:174900 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Increased fecal coproporphyrin 3, Nausea, Abnormal erythrocyte enzyme concentration or ... |
ORPHA:100924 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Triangular mouth, Feeding difficul... |
OMIM:257300 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... |
OMIM:615934 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Abnormal liver sonography |
ORPHA:90003 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Chronic noninfectious... |
ORPHA:100080 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Hepato... |
ORPHA:731 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Colonic Atresia |
|
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
Miller-Dieker Lissencephaly Syndrome |
|
Lissencephaly, Delayed eruption of teeth, Pachygyria, Thick upper lip vermilion, Micrognathia, Cr... |
OMIM:247200 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Hepatic amyloidosis, Cervical lymphadenopathy, Chronic con... |
OMIM:142680 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Annular pancreas, Long philtrum, Intestinal malrotation, Cryptorchid... |
ORPHA:2308 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Nausea, Anemia, Cirrhosis... |
ORPHA:79240 |
Carcinoid Syndrome |
|
Lack of bowel sounds, Protracted diarrhea, Hepatic necrosis, Chronic noninfectious lymphadenopath... |
ORPHA:100093 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Decreased liver function, Abnormal mesentery morphology, Increased circulating IgE... |
ORPHA:449395 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, C... |
OMIM:609313 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Intrauterine growth retardation, Cachexia |
OMIM:616801 |
Adrenomyodystrophy |
|
Abnormal intestine morphology, Short stature, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ... |
ORPHA:65682 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph... |
OMIM:617718 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of ... |
OMIM:135500 |
Aarskog-Scott Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... |
ORPHA:915 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, Duodenal atresia |
OMIM:300514 |
Grfoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97261 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Feeding diffic... |
ORPHA:534 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Malabsorption, Splenome... |
OMIM:602347 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tooth malposition, Open mouth, Cryptorchidism, Dysphagia, Bowel incontinence, Polymicrogyria, Per... |
ORPHA:261552 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta... |
ORPHA:53035 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Sclerosing cholangitis,... |
ORPHA:64744 |
Lead Poisoning |
|
Vomiting, Abdominal distention, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Incre... |
ORPHA:330015 |
Sarcoidosis |
|
Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Parotitis, Leukopenia,... |
ORPHA:797 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233710 |
Castleman Disease |
|
Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, Abdominal pain, Generalized ... |
ORPHA:160 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... |
ORPHA:549 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy... |
OMIM:611376 |
Carpenter Syndrome 1 |
|
Hypoplasia of the maxilla, Polysplenia, Agenesis of permanent teeth, Persistence of primary teeth... |
OMIM:201000 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum |
ORPHA:3214 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Hepatic steatosis |
ORPHA:42 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate |
OMIM:266280 |
Papa Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
Snakebite Envenomation |
|
Gingival bleeding, Diarrhea, Vomiting, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopitui... |
ORPHA:449285 |
Klatskin Tumor |
|
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate |
OMIM:613849 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation |
OMIM:618985 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... |
OMIM:617412 |
Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... |
ORPHA:47612 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Cryptorchidism, Feedin... |
OMIM:619797 |
Spermatogenic Failure 81 |
|
Reduced progressive sperm motility, Multiple non-erupting secondary teeth |
OMIM:620277 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab... |
ORPHA:1451 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Chronic diarrhea, Recurrent sinusitis, Agammaglobulinemia, B lymphocyto... |
OMIM:601495 |
Dubowitz Syndrome |
|
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Malabsorption, Micrognath... |
ORPHA:235 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged platelet dens... |
OMIM:608233 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... |
OMIM:233690 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati... |
ORPHA:436252 |
Kleefstra Syndrome |
|
Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of teeth, Supernumerary ni... |
ORPHA:261494 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hematochezia, Hepatic failure, Hepatomegaly, Prol... |
OMIM:214950 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Leukope... |
OMIM:603553 |
Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Nausea and vomiting, Gastrointestinal st... |
ORPHA:139411 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... |
OMIM:620005 |
Alg8-Cdg |
|
Diarrhea, Vomiting, Abnormality of the gastrointestinal tract, Thrombocytopenia, Anemia, Macroglo... |
ORPHA:79325 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Dysphagia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume... |
ORPHA:1787 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor... |
ORPHA:2769 |
Porphyria, Acute Intermittent |
|
Diarrhea, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de... |
OMIM:176000 |
Acrootoocular Syndrome |
|
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Decreased response to growth... |
ORPHA:2980 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Delayed eruption of teeth, Leukocytosis, Splenomegaly, Enamel hypoplasia, Pro... |
ORPHA:289157 |
Duplication Of The Pituitary Gland |
|
Volvulus, Retrognathia, Supernumerary tooth, Wide mouth, Cleft palate, Abnormal pituitary gland m... |
ORPHA:314621 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Abnormality of the dentition, Delayed eruption of teeth, Increased circulating IgE level, Eosinop... |
ORPHA:2314 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Nausea and vomiting, Macrocytic anemia... |
ORPHA:199299 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Increased circula... |
ORPHA:2298 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Fat... |
ORPHA:96180 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate |
OMIM:612350 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia |
OMIM:272460 |
Immunodeficiency 33 |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ... |
OMIM:300636 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Splenomegaly... |
ORPHA:707 |
Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
Dermatitis Herpetiformis |
|
Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Malabso... |
ORPHA:1656 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Gingival overgrowth, Open mouth, Cr... |
OMIM:619148 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Radiation Proctitis |
|
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... |
ORPHA:70475 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodena... |
OMIM:619227 |
Malakoplakia |
|
Diarrhea, Neoplasm of the colon, Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Abdomi... |
ORPHA:556 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Cleft upper lip, Malar prominence, Recurrent infection of the gastrointe... |
OMIM:251260 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepat... |
OMIM:610377 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Leukocytosis, Rectal abscess, Gingivitis, Chronic diarrhea |
OMIM:116920 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... |
ORPHA:160148 |
Menke-Hennekam Syndrome 2 |
|
Agenesis of permanent teeth, Micrognathia, Chronic constipation, Thin upper lip vermilion, Deep p... |
OMIM:618333 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Microcytic anemia, Ankylogloss... |
OMIM:619525 |
Rett Syndrome |
|
Short stature, Cachexia, Gastroesophageal reflux |
OMIM:312750 |
Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... |
ORPHA:480520 |
Sotos Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Cryptorchidism, Narrow jaw, Advanced eruption of te... |
OMIM:117550 |
Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
Blau Syndrome |
|
Xerostomia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gl... |
ORPHA:90340 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... |
OMIM:214500 |
Ppoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... |
ORPHA:97278 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega... |
OMIM:267700 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte... |
ORPHA:228426 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Delayed eruption of teeth, Lymphopenia, Leukopenia, Gingival overgro... |
ORPHA:508542 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Episodic vomiting |
OMIM:272300 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Duodenal atresia |
OMIM:617798 |
Microform Holoprosencephaly |
|
Panhypopituitarism, Tented upper lip vermilion, Solitary median maxillary central incisor, Orofac... |
ORPHA:280200 |
Orofaciodigital Syndrome I |
|
Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Gray matter heterotopia, Hamartoma of to... |
OMIM:311200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
ORPHA:169090 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Delayed eruptio... |
ORPHA:2909 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Anorexia, Chronic noninfectious lymphadenopathy, Hepatic cysts, I... |
ORPHA:100085 |
Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Cleft lip, Inte... |
ORPHA:1199 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia |
OMIM:614381 |
Rothmund-Thomson Syndrome Type 1 |
|
Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Nasogastric tub... |
ORPHA:221008 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Anti-Glomerular Basement Membrane Disease |
|
Anemia, Persistence of primary teeth |
ORPHA:375 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis, Feeding difficulties |
OMIM:618154 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Micrognathia, Cryptorchidism, Hyper... |
OMIM:618183 |
Rothmund-Thomson Syndrome Type 2 |
|
Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Nasogastric tub... |
ORPHA:221016 |
Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ... |
ORPHA:913 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent teeth,... |
OMIM:268400 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Short stature, Severe failure to thrive, Intrauterine growth retardation, Cachexia |
ORPHA:371364 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Short stature, Narrow palate... |
ORPHA:109 |
Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchi... |
OMIM:610253 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Duodenal stenosis |
ORPHA:2547 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematochezia, Diarrhea, Hepatitis, Pancytopenia, Hepatic steatosis, Splenomeg... |
OMIM:615846 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal pol... |
ORPHA:2929 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... |
OMIM:224230 |
Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Cleft upper lip, Widel... |
OMIM:122470 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hypodontia, Hepat... |
OMIM:612132 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Tooth malposition, Abnormality of the dentition, Retrognathia, Thick... |
ORPHA:2785 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Oral mucosal blisters, Enamel hypoplasia, Esoph... |
OMIM:226730 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Thick lower lip ... |
ORPHA:192 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... |
OMIM:616367 |
Orofacial Cleft 15 |
|
Palate fistula, Cryptorchidism, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral ... |
OMIM:616788 |
Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Gastroesophageal reflux, Natal tooth, Thick lower lip vermilion, An... |
ORPHA:261652 |
Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent aphthous stomatitis, Malabsorption, Micrognathia, Chronic diarrhea, Prolonged neonatal ... |
OMIM:233600 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Thick lower lip vermilion, Wide mouth, Splenomegaly, Thick vermilion border, Hepatomega... |
OMIM:252940 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Natal tooth, Malabsorption |
ORPHA:99811 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume... |
ORPHA:77258 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Gastroesophageal reflux, Decreased circulating total IgG, Diar... |
ORPHA:221139 |
Den Hoed-De Boer-Voisin Syndrome |
|
Carious teeth, Gastroesophageal reflux, Yellow-brown discoloration of the teeth, Delayed eruption... |
OMIM:619229 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Dysphagia, Constipation |
ORPHA:309162 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Hamartoma of tongue, Peg-shaped maxillary lateral inci... |
ORPHA:2751 |
Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Micrognath... |
ORPHA:96149 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Anal atresia, Thrombocytope... |
ORPHA:647 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Intrauterine growth retardation, Cryptorchidism, Cachexi... |
ORPHA:217346 |
Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Ectopic anus, Feeding difficul... |
ORPHA:87 |
Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Micrognathia, Accessory oral frenulum, Agenesis of central incisor, Ma... |
OMIM:252100 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Delayed eruption of teeth, Retrognathia, Impacted tooth, Ankyloglossia, Persiste... |
ORPHA:740 |
Microsporidiosis |
|
Lymphadenitis, Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Decrea... |
ORPHA:2552 |
Laron Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterolemia |
ORPHA:633 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Diarrhea, Splenomegaly |
OMIM:252920 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Anemia, Generalized lymphaden... |
ORPHA:829 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Micrognathia, Achalasia |
ORPHA:929 |
Immunodeficiency 46 |
|
Chronic diarrhea, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thrombo... |
OMIM:616740 |
Kilquist Syndrome |
|
Mandibular prognathia, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Chronic const... |
OMIM:619080 |
Polycythemia Vera |
|
Early satiety, Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leuk... |
ORPHA:729 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Prematur... |
ORPHA:2710 |
Mucopolysaccharidosis, Type Vi |
|
Carious teeth, Delayed eruption of teeth, Splenomegaly, Chronic constipation, Hepatomegaly, Macro... |
OMIM:253200 |
Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Malabsorption, Leukocytosis, Cryptorchidism, Micrognathia, Lymphade... |
ORPHA:99812 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Abnormality of canine, Intestinal bleeding, Long philtrum, Thick upper lip vermilion, Adenomatous... |
ORPHA:261584 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Hepatic failure, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... |
OMIM:618213 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Mala... |
ORPHA:144 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh... |
ORPHA:137834 |
Arthrogryposis, Distal, Type 12 |
|
Dental crowding, Cryptorchidism, High palate, Hydrocele testis, Agenesis of maxillary incisor |
OMIM:620545 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal pain |
ORPHA:36412 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Delayed eruption of teeth, Widely spaced teeth, Gingival... |
OMIM:301072 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent... |
ORPHA:364577 |
Cog8-Cdg |
|
Protein-losing enteropathy, Failure to thrive |
ORPHA:95428 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A... |
ORPHA:512 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Diarrhea, Splenomegaly |
OMIM:252900 |
Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Micrognathia, Biliary atres... |
OMIM:115470 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Impaired T cell function, Decreased testicular size, Splenomegaly, Hepatomegaly, Poor a... |
OMIM:201100 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
Oculodentodigital Dysplasia |
|
Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl... |
OMIM:164200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Advanced eruption of teeth, Pa... |
ORPHA:280365 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in infancy, Abdominal distention, Neutro... |
ORPHA:3260 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Tetrasomy 18P |
|
Long philtrum, Narrow mouth, Abnormality of neuronal migration, Achalasia, Thin vermilion border |
ORPHA:3307 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion,... |
ORPHA:181 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Mosaic Variegated Aneuploidy Syndrome |
|
Stomach cancer, Intestinal polyposis, Micrognathia, Acute lymphoblastic leukemia, Duodenal atresi... |
ORPHA:1052 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Cryptorchidism, Thin vermi... |
OMIM:214150 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Abdominal pain |
ORPHA:54057 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Furrowed tongue, Mic... |
OMIM:616975 |
Focal Dermal Hypoplasia |
|
Abnormality of the dentition, Gastroesophageal reflux, Tooth agenesis, Acute hepatic failure, Ope... |
ORPHA:2092 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Gastroesophageal reflux, Dental crowding, Widely spaced teeth, Chronic constipation, Delayed erup... |
OMIM:617799 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Cryptorchidism, Abnormality of de... |
ORPHA:96092 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemolytic anemia, S... |
ORPHA:809 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Chops Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Gastrop... |
OMIM:616368 |
Multiple Endocrine Neoplasia Type 1 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyro... |
ORPHA:652 |
Three M Syndrome 2 |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... |
OMIM:612921 |
Plasminogen Deficiency, Type I |
|
Gingivitis, Duodenal ulcer, Periodontitis, Gingival overgrowth |
OMIM:217090 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Vomiting, Microretrognathia, Polysplenia, Exocrine p... |
OMIM:619418 |
Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, Delayed eruption of... |
ORPHA:90322 |
Trisomy 18 |
|
Intrauterine growth retardation, Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Shor... |
ORPHA:3380 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Obesity, Cachexia, Short stature, High palate |
ORPHA:85293 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... |
ORPHA:228119 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Narrow mouth, Protruding tongue, Cryptorchidism, Open mouth, Alveola... |
OMIM:200990 |
Immunodeficiency 56 |
|
Hepatic failure, Panhypogammaglobulinemia, Recurrent infection of the gastrointestinal tract, Rec... |
OMIM:615207 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Diarrhea, Gastroesophageal reflux, Encopresis, Tented upper lip vermilion, Constipation, Abdomina... |
ORPHA:589821 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Brain abscess, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarcti... |
ORPHA:544482 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Granuloma, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis... |
OMIM:306400 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Codas Syndrome |
|
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth, Extrahe... |
ORPHA:1458 |
Craniolenticulosutural Dysplasia |
|
Bifid uvula, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Wi... |
OMIM:607812 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea, Open mouth, Pyloric stenosis |
OMIM:616355 |
Complement Component 4B Deficiency |
|
Chronic diarrhea, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Gastroesophageal reflux, Increased circulating prolactin concentration, Constipation, D... |
ORPHA:35708 |
Amyotrophic Lateral Sclerosis |
|
Tongue atrophy, Cachexia, Xerostomia, Dysphagia |
ORPHA:803 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Cervical lymphadenopathy, Gangl... |
ORPHA:653 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... |
ORPHA:50814 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Open mouth, Sho... |
OMIM:615866 |
Wilson Disease |
|
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... |
ORPHA:905 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Pediatric-Onset Graves Disease |
|
Diarrhea, Goiter, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Neutropenia in presence of... |
ORPHA:525731 |
Sandhoff Disease |
|
Hepatosplenomegaly, Episodic abdominal pain, Hepatomegaly, Macroglossia, Chronic diarrhea |
OMIM:268800 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Gastroesophageal reflux, Downturned corners of mouth, Hypoplasia of the pharynx, Thin upper lip v... |
ORPHA:3164 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Duodenal atresia |
OMIM:614114 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Hematochezia, Abnormal eosinophil morphology, Acute leukemia, Inflammation of ... |
ORPHA:906 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... |
ORPHA:231222 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
Infantile Krabbe Disease |
|
Cachexia, Gastroesophageal reflux, Failure to thrive |
ORPHA:206436 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Cleft lip, Microretrognathia, Long philtrum, Abnormal mesentery morph... |
ORPHA:2953 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia |
ORPHA:300605 |
Pachyonychia Congenita |
|
Natal tooth, Oral leukoplakia, Angular cheilitis, Advanced eruption of teeth, Feeding difficulties |
ORPHA:2309 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Gingival overgrowth |
ORPHA:313855 |
Smith-Lemli-Opitz Syndrome |
|
Gastroesophageal reflux, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morp... |
ORPHA:818 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Alveolar ridge overgrowth, Abnormal d... |
ORPHA:2886 |
Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Anal stenosis, Gastroesophageal reflux, Natal tooth, Dental malocclusion, Dental cro... |
OMIM:300373 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth |
OMIM:619356 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, Dental crowding, Natal tooth, Absent paranasal sinuses, Malar flattening, Microdon... |
OMIM:269300 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Anorexia, Neutrophilia, Abdominal... |
ORPHA:99827 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Vomiting, Diarrhea, Megaloblastic anemia, Neutropenia, Jaundice, Feeding difficulties |
OMIM:250940 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Pancreatitis, ... |
ORPHA:36426 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate |
ORPHA:2804 |
Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:209981 |
Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft |
ORPHA:139466 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia |
ORPHA:49827 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... |
OMIM:270420 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Abdominal situs inversus, Microgn... |
ORPHA:2108 |
Scedosporiosis |
|
Abnormal jejunum morphology, Sinusitis |
ORPHA:449280 |
Relapsing Fever |
|
Diarrhea, Vomiting, Leukopenia, Leukocytosis, Abdominal pain, Thrombocytopenia, Neutrophilia, Ane... |
ORPHA:91547 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormal lymph node morphology |
ORPHA:677 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Gastroesophageal reflux, Dental crowding, Gastroparesis, Open mo... |
ORPHA:79329 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... |
OMIM:190350 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation, Duodenal ulcer, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen |
OMIM:601186 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Pancreatitis, Anemia |
ORPHA:31205 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Aplasia of the epiglottis, Median cleft upper lip, Hypodontia, Hepatomegaly, Supern... |
OMIM:617088 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... |
ORPHA:952 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Abdominal pain, Vomiting, Pancreatitis |
OMIM:620137 |
Trichorhinophalangeal Syndrome Type 2 |
|
Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion... |
ORPHA:502 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
Congenital Myopathy 20 |
|
Micrognathia, High palate, Chronic diarrhea |
OMIM:620310 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Conical tooth, Absent nipple, Hypoplasia of the maxilla, Everted... |
OMIM:305100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Peritonitis, Weigh... |
ORPHA:679 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy |
ORPHA:139402 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Diarrhea, Thick lower lip vermilion, Pheochromocytoma, ... |
OMIM:162300 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Functional intestinal obstruction, Premature eruption of permanent teeth, Odontog... |
ORPHA:199276 |
Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
19P13.13 Microdeletion Syndrome |
|
Macroglossia, Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Narrow mo... |
ORPHA:357001 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Scleromyxedema |
|
Gastroesophageal reflux, Paraproteinemia, Narrow mouth, Abnormality of the gastrointestinal tract... |
ORPHA:167635 |
Autosomal Recessive Robinow Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... |
ORPHA:1507 |
Chime Syndrome |
|
Abnormality of the dentition, Acute leukemia, Abnormal dental morphology, Microdontia, Hypodontia... |
ORPHA:3474 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism |
OMIM:612463 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, ... |
OMIM:129900 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... |
OMIM:170390 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Carious teeth, Xerostomia, Hypoplasia of the maxilla, Anteriorly placed anus, Sele... |
OMIM:604292 |
Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Retrognathia, Polymicrogyria, Periventricular heterotopia, Narrow mouth, Crypt... |
ORPHA:468631 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Feeding difficulties |
OMIM:617105 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Hereditary Angioedema Type 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain, Nausea, Abnormal soft palate morphology, Dy... |
ORPHA:100050 |
Lassa Fever |
|
Diarrhea, Nausea and vomiting, Abdominal pain, Jaundice, Increased circulating IgM level, Dysphagia |
ORPHA:99824 |
Kawasaki Disease |
|
Strawberry tongue, Diarrhea, Hepatitis, Cervical lymphadenopathy, Lip fissure, Leukocytosis, Chol... |
ORPHA:2331 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Decreased n... |
ORPHA:69087 |
Classic Galactosemia |
|
Hepatic failure, Diarrhea, Vomiting, Cryptorchidism, Abnormal erythrocyte enzyme concentration or... |
ORPHA:79239 |
Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Gingival overgrowth, Leukocytosis, Protruding tongue, Recurrent gastroenteriti... |
ORPHA:99843 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Carious teeth, Natal tooth, Downturned corners of mouth, Ab... |
OMIM:620186 |
Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... |
ORPHA:2363 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, Micrognathia, Na... |
OMIM:234100 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Abnormal gastrointestinal tract morp... |
ORPHA:1018 |
Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia |
ORPHA:627 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Absent gallbladder, Neonatal death, An... |
OMIM:617925 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Long philtrum, Abnormal mandible morphology, Narrow mouth, Cryptorch... |
ORPHA:2215 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath... |
ORPHA:424016 |
Hyaline Fibromatosis Syndrome |
|
Gingival fibromatosis, Diarrhea, Gingival overgrowth |
OMIM:228600 |
Genitopatellar Syndrome |
|
Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Micrognathia, Cryptorchidism, ... |
ORPHA:85201 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Macroglossia, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Nausea... |
ORPHA:2107 |
Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Diarrhea, Widely spaced primary teeth, Hypoplasia of the primary te... |
ORPHA:90321 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Increased circul... |
OMIM:131100 |
Addison Disease |
|
Normocytic anemia, Thymoma, Diarrhea, Nausea and vomiting, Thiamine-responsive megaloblastic anem... |
ORPHA:85138 |
Turcot Syndrome With Polyposis |
|
Hematochezia, Melena, Diarrhea, Vomiting, Pituitary adenoma, Adenomatous colonic polyposis, Intes... |
ORPHA:99818 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M... |
ORPHA:2780 |
Anal Fistula |
|
Anoperineal fistula, Leukocytosis |
ORPHA:228113 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Micrognathia, Neonatal death, High palate, Glossoptosis, To... |
OMIM:311900 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar |
OMIM:302350 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Gastrointestinal infarctions, Nausea and vomiting, Periton... |
ORPHA:727 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Andersen-Tawil Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Hyperaldosteronism, Per... |
ORPHA:37553 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Diarrhea, Vomiting, Bloody diarrhea, Lymphopenia, Abnormal... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Diarrhea, Vomiting, Hyperlipidemia, Hepatic steatosis, Pancreatitis, Hyperchole... |
ORPHA:247585 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... |
OMIM:277320 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Micrognathia, Hepatic steatosis, Abnormal hepatic echogenicity, Ab... |
OMIM:619991 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... |
ORPHA:97289 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nausea, Diarrhea, Dysphagia, Poor appetite |
ORPHA:352447 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia |
OMIM:620365 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties |
ORPHA:79101 |
Feingold Syndrome Type 1 |
|
Micrognathia, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duoden... |
ORPHA:391641 |
Glycogen Storage Disease Ixc |
|
Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato... |
OMIM:613027 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Weight loss |
ORPHA:2902 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Anemia... |
ORPHA:247598 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Abnormality of the liver, Abnormal gastrointestinal tr... |
ORPHA:464321 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Natal tooth, Anteriorly placed anus, Gingival overgrowth, Narrow mouth, Malar flatte... |
OMIM:123790 |
Fraser Syndrome 1 |
|
Abnormal cortical gyration, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal small... |
OMIM:219000 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth |
OMIM:190351 |
Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Cryptor... |
OMIM:616300 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte... |
ORPHA:324636 |
Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Micrognathia, Median cleft palate, Submucous cleft hard palate, Median c... |
OMIM:301043 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
Necrotizing Enterocolitis |
|
Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Leukocytosis, Peritonitis, Abd... |
ORPHA:391673 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension |
ORPHA:83620 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
Malt Lymphoma |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ... |
ORPHA:276152 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
Chronic Beryllium Disease |
|
Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Leukopenia, Splenomegaly, ... |
ORPHA:1328 |
Char Syndrome |
|
Supernumerary nipple, Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening... |
ORPHA:46627 |
Hurler Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Everted lower lip vermilion, Thick vermilion border, He... |
ORPHA:93473 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Dracunculiasis |
|
Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation |
ORPHA:231 |
Recon Progeroid Syndrome |
|
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thrombocytopenia, Anemia, Delayed... |
OMIM:620370 |
Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate |
ORPHA:949 |
Lujo Hemorrhagic Fever |
|
Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Nausea, Abdominal cr... |
ORPHA:319213 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss, Intestinal obstruction |
ORPHA:449400 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Reye syndrome-like episodes, Hepatomegaly, Nausea, Feeding difficulties, Poor... |
ORPHA:927 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function, Reduced erythrocyte galactose-1-phosphate uridylylt... |
OMIM:230400 |
Apert Syndrome |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Cryptorchidism, Malar flattening, Ec... |
OMIM:101200 |
Aa Amyloidosis |
|
Abnormal oral mucosa morphology, Vomiting, Malnutrition, Cholestasis, Malabsorption, Nausea, Hepa... |
ORPHA:85445 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea |
OMIM:614102 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain... |
OMIM:613960 |
Treacher Collins Syndrome 1 |
|
Hypoplasia of the pharynx, Cleft soft palate, Narrow mouth, Cryptorchidism, Micrognathia, Malar f... |
OMIM:154500 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Feedin... |
OMIM:251000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Gastroesophageal reflux, Dental crowding, Natal tooth, Dental malocclusion, Intest... |
ORPHA:353281 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Diarrhea, Vomiting, Polymicrogyria, Lipid accumulation in hepatocytes, Hepatic cal... |
OMIM:608836 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
Immunodeficiency 58 |
|
Cutaneous abscess, Recurrent aphthous stomatitis, Esophagitis, Decreased specific antibody respon... |
OMIM:618131 |
Bronchial Neuroendocrine Tumor |
|
Hepatic failure, Increased circulating cortisol level, Protracted diarrhea, Chronic noninfectious... |
ORPHA:97287 |
Lysinuric Protein Intolerance |
|
Diarrhea, Vomiting, Hemophagocytosis, Malnutrition, Leukopenia, Splenomegaly, Anemia, Pancreatiti... |
OMIM:222700 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis, Sinusitis... |
ORPHA:449427 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
Kabuki Syndrome 2 |
|
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, Feeding difficulties i... |
OMIM:300867 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Abdominal distention, Recurrent infection of the gastrointestinal tract, Leukocytosis, Nausea, An... |
ORPHA:51890 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... |
ORPHA:2241 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:3220 |
Diarrhea 13 |
|
Vomiting, Secretory diarrhea, Hepatic steatosis |
OMIM:620357 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Elliptocytosis, Narrow mou... |
OMIM:300990 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... |
ORPHA:100086 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Achalasia, Narrow mouth |
ORPHA:436174 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Anemia, Diarrhea, Nausea and vomiting |
ORPHA:1842 |
Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Codas Syndrome |
|
Gastroesophageal reflux, Delayed eruption of teeth, Cryptorchidism, Enamel hypoplasia, Anal atres... |
OMIM:600373 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... |
ORPHA:400 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
Bloom Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Hepatic steatosis, Cryptorchidi... |
OMIM:210900 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy... |
OMIM:618278 |
Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat... |
ORPHA:444072 |
Immunodeficiency 77 |
|
Gastroparesis, Recurrent tonsillitis, Cutaneous abscess |
OMIM:619223 |
Cleidocranial Dysplasia 1 |
|
High, narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal sinuses, Malar f... |
OMIM:119600 |
Acute Intermittent Porphyria |
|
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... |
ORPHA:79276 |
Takayasu Arteritis |
|
Anemia, Gastrointestinal infarctions, Weight loss |
ORPHA:3287 |
Helsmoortel-Van Der Aa Syndrome |
|
Carious teeth, Ankyloglossia, Cryptorchidism, Everted lower lip vermilion, Dysphagia, High, narro... |
OMIM:615873 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gastroesophageal reflux, Retrognathia, Poor suck, Widely spaced teeth, Decreased response to grow... |
ORPHA:268261 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microgn... |
OMIM:259775 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... |
ORPHA:440437 |
Cockayne Syndrome |
|
Severe short stature, Gastroesophageal reflux, Postnatal growth retardation, Splenomegaly, Crypto... |
ORPHA:191 |
Dysosteosclerosis |
|
Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognathia, Oligodontia, Abse... |
OMIM:224300 |
Spondyloenchondrodysplasia |
|
Granuloma, Hepatitis, Dental malocclusion, Delayed eruption of teeth, Decreased response to growt... |
ORPHA:1855 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve... |
OMIM:275350 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Micr... |
OMIM:274000 |
Opitz Gbbb Syndrome |
|
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Cryptorchidism, Hypodontia, E... |
ORPHA:2745 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Incontinentia Pigmenti |
|
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia... |
OMIM:308300 |
Biotinidase Deficiency |
|
Vomiting, Diarrhea, Splenomegaly, Feeding difficulties in infancy, Hepatomegaly |
OMIM:253260 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension... |
ORPHA:171 |
Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Abnormal cortical gyration, Hypoplasia of the premaxilla, Dental mal... |
OMIM:610829 |
Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Chronic constipation, Constipation, Pachygyria, Abdominal pain |
OMIM:248360 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Retrognathia, Malabsorption, Intestinal obstruction, Triangular ... |
OMIM:601675 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
Cerebellofaciodental Syndrome |
|
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism |
OMIM:616202 |
Frontometaphyseal Dysplasia 1 |
|
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... |
OMIM:305620 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Decreased response to growth hormone s... |
OMIM:307200 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea |
OMIM:610370 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Abdominal pain, Diarrhea, Vomiting |
OMIM:106100 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis, Malar flattening, Thick vermilion border, Thin vermilion border, Supernumerary tooth |
ORPHA:86818 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Retrognathia, Streak ovary, ... |
ORPHA:798 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:33577 |
Q Fever |
|
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... |
ORPHA:781 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Micrognathia, Cryptorchidism, Chronic constipation, Thrombocytopenia, Thick verm... |
OMIM:619005 |
Brucellosis |
|
Hypersplenism, Anorexia, Hepatomegaly, Abdominal pain, Granuloma, Abnormality of the liver, Abnor... |
ORPHA:1304 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Proportionate short stature,... |
ORPHA:171876 |
Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Polymicrogyria, Hamartoma of t... |
OMIM:615948 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Iniencephaly |
|
Narrow mouth, Orofacial cleft, Mandibular aplasia, Anal atresia, Duodenal atresia, Lissencephaly |
ORPHA:63259 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Splenomegaly, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatomegaly, Test... |
ORPHA:465508 |
Barber-Say Syndrome |
|
Hypoplasia of the maxilla, Absent nipple, Dental malocclusion, Velopharyngeal insufficiency, Dela... |
OMIM:209885 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Thin upper lip vermilion, Feeding difficulties in infancy, Wide mouth, Duodenal a... |
OMIM:618846 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum |
OMIM:184260 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Hepatic steatosis, Chronic cons... |
OMIM:619503 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Increased circulating... |
ORPHA:99889 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... |
ORPHA:369950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... |
OMIM:615816 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen, Secondary hyper... |
OMIM:277440 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Short hard palate, Cachexia |
ORPHA:1969 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Vomiting, Gastroesophageal reflux, Cryptorchidism, Posterior pituitary hypoplasia, Abnormality of... |
ORPHA:464311 |
Psoriasis 14, Pustular |
|
Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Cholangitis |
OMIM:614204 |
Deeah Syndrome |
|
Narrow palate, Retrognathia, Long philtrum, Exocrine pancreatic insufficiency, Decreased response... |
OMIM:619004 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Open mouth,... |
OMIM:280000 |
Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Oral ulcer |
OMIM:617321 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Inflammation of the large intestine, Weight loss |
ORPHA:324964 |
Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ... |
ORPHA:94089 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Anemia, Lymphadenopathy... |
ORPHA:667 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea |
OMIM:618805 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... |
ORPHA:352665 |
Doors Syndrome |
|
Short lingual frenulum, Adrenal hyperplasia, Open mouth, High palate, Gastroesophageal reflux, Do... |
ORPHA:79500 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Craniofacial asymmetry, Malrotation of small bowel, Gastroesophageal reflux, Do... |
OMIM:194190 |
Charge Syndrome |
|
Anal stenosis, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Cleft upper lip, Decreas... |
OMIM:214800 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Bifid uvula, Vomiting, Hepatitis, Micrognathia, Hepatic steatosis, Incr... |
OMIM:614921 |
Melas |
|
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Hypoparathyroidism, Recurrent pancreatitis, Ga... |
ORPHA:550 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Gastroesophageal reflux, Cleft upper lip, Tented upper lip vermilion, Thin upper lip vermilion, A... |
OMIM:600987 |
Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Widely spaced teeth, Abnormal den... |
ORPHA:1071 |
Avian Influenza |
|
Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Abdominal pain |
ORPHA:454836 |
Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:1267 |
Vipoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Nausea and v... |
ORPHA:97282 |
Hypoglossia-Hypodactyly Syndrome |
|
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Narrow mouth, J... |
ORPHA:989 |
Riddle Syndrome |
|
Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Recurrent sinusitis, ... |
ORPHA:420741 |
Dystonia-Deafness Syndrome 1 |
|
Cleft upper lip, Pseudobulbar paralysis, Achalasia, Dysphagia, Cleft palate |
OMIM:607371 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Lymphopenia, Incre... |
ORPHA:508533 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Dental malocclusion, Testicular torsion, Pursed lips, Long philtrum, Decrea... |
ORPHA:800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Hyperparathyroidism, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Vomiting, Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplas... |
ORPHA:464306 |
Pallister-Hall Syndrome |
|
Microglossia, Natal tooth, Anteriorly placed anus, Cleft upper lip, Decreased response to growth ... |
OMIM:146510 |
Erythrokeratodermia Variabilis |
|
Short stature, Weight loss, Abnormal testis morphology |
ORPHA:317 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Long philtrum, Supernumerary nipple, Submucous cleft hard palate, Thin upper lip vermilion, High ... |
ORPHA:457279 |
Carnitine Deficiency, Systemic Primary |
|
Vomiting, Diarrhea, Decreased carnitine level in liver, Microvesicular hepatic steatosis, Hepatom... |
OMIM:212140 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... |
OMIM:242900 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Delayed eruption o... |
ORPHA:289 |
Foodborne Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:228371 |
Mucopolysaccharidosis Type 3 |
|
Abnormality of the dentition, Craniofacial hyperostosis, Recurrent tonsillitis, Malabsorption, Ad... |
ORPHA:581 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Adnp Syndrome |
|
Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Cryptorc... |
ORPHA:404448 |
Listeriosis |
|
Diarrhea, Brain abscess, Vomiting, Cholecystitis, Abscess, Nausea, Peritonitis, Abdominal pain, H... |
ORPHA:533 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Autosomal Dominant Robinow Syndrome |
|
High, narrow palate, Downturned corners of mouth, Long philtrum, Retrognathia, Open bite, Gingiva... |
ORPHA:3107 |
Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties |
OMIM:613638 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Weight loss, Short ... |
ORPHA:354 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Talon cusp, Gastroesophageal reflux, Carious teeth, Dental crowding, Natal tooth, Dental malocclu... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Talon cusp, Gastroesophageal reflux, Carious teeth, Dental crowding, Natal tooth, Dental malocclu... |
ORPHA:353277 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Dysgyria, Cryptorchidism |
OMIM:613834 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas |
ORPHA:935 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts |
OMIM:617425 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Abdominal pain, Pancreatitis, Leukocytosis |
ORPHA:188 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weight loss, Leukemia, Pure... |
ORPHA:99867 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Vomiting, Diarrhea, Nausea |
ORPHA:79457 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Neoplasm of the pancreas |
ORPHA:2959 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Xfe Progeroid Syndrome |
|
Severe short stature, Cachexia, Failure to thrive |
OMIM:610965 |
Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... |
ORPHA:666 |
Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... |
OMIM:182250 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Gastroparesis, Abnormality of the liver, Gastroesophageal reflux, Constipation |
OMIM:610131 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti... |
OMIM:264090 |
Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Ovaria... |
OMIM:269880 |
Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Annular pancreas, Retrognathia, Cryptorchidism, Aplasia/... |
ORPHA:264450 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cryptorchidism, Thin upper lip vermilion, H... |
ORPHA:1465 |
Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Meckel diverticulum, Anteriorly placed anus, Gastrostomy tube feeding in ... |
ORPHA:1708 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Orofacial cleft, Achalasia, Dysphagia |
ORPHA:79107 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Tracheoesophageal fistula, Pancreatitis, Weight loss, Neutropenia, T... |
ORPHA:537 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue, Eosinophilia, Melena, Chronic diarrhea |
OMIM:158310 |
Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Gingival overgrowth, Gingivitis, Duodenal ulcer |
ORPHA:722 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Hepatomegaly, Chronic diarrhea, Bowel incont... |
ORPHA:330001 |
Ivic Syndrome |
|
Intestinal malrotation, Leukocytosis, Thrombocytopenia, Anal atresia, Rectovaginal fistula |
OMIM:147750 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypoparathyroidism, Delayed eruption of teeth |
ORPHA:2238 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Retrognathia, Micrognathia, Narr... |
ORPHA:83617 |
Acrodysostosis |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Cryptorchidism, Mand... |
ORPHA:950 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Cockayne Syndrome A |
|
Carious teeth, Dental malocclusion, Cryptorchidism, Splenomegaly, Thymic hormone decreased, Delay... |
OMIM:216400 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Vomiting, Hepatitis, Abscess, Increased circulating myelocyte count, Nausea, Peritoniti... |
ORPHA:36234 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia |
OMIM:616457 |
Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... |
ORPHA:769 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Delayed eruption of teeth |
ORPHA:73272 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia |
ORPHA:3239 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Cryptorchidism, Hiatus he... |
OMIM:601776 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Retrognathia, Open mouth, Feeding difficulties in infancy, Deep philtr... |
ORPHA:1675 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahe... |
ORPHA:333 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition |
OMIM:605822 |
Genitopatellar Syndrome |
|
Malrotation of small bowel, Anal stenosis, Delayed eruption of teeth, Anteriorly placed anus, Mic... |
OMIM:606170 |
Shprintzen Omphalocele Syndrome |
|
Thin vermilion border, Hypoplasia of the pharynx, Anal atresia |
OMIM:182210 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Supernumerary nipple, Abnormal dental enamel morphology, Abnormal dent... |
ORPHA:464 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... |
OMIM:218400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Anemia, Reye syn... |
ORPHA:20 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Chronic decreased circulating IgG1, Widely spaced primary teeth, Panhypopi... |
OMIM:300953 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth |
OMIM:113000 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth |
OMIM:129550 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Narrow mouth, Cryptorch... |
OMIM:617063 |
Neuroblastoma |
|
Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea |
ORPHA:635 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Narrow mouth, Thin upper lip vermilion, Constipation, High palate, Intermittent diarrhe... |
OMIM:618050 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Downturned corners of mouth, Achalasia, Short philtrum, Esophageal stenosis, Dysphagia, Feeding d... |
OMIM:615510 |
Alternating Hemiplegia Of Childhood |
|
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Downturned corners of mouth,... |
ORPHA:2131 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intestinal ma... |
OMIM:135900 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:767 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Widely spaced teeth, Ankyloglossia, Agenesis of incisor, Micrognathia, Cry... |
OMIM:619841 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism |
OMIM:612462 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat... |
OMIM:268305 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Micrognathia, Median cleft palate, ... |
OMIM:612651 |
Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Chand Syndrome |
|
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... |
ORPHA:1401 |
Teebi Hypertelorism Syndrome 1 |
|
Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion, Hydrocele te... |
OMIM:145420 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism |
OMIM:103580 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis... |
OMIM:256810 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... |
ORPHA:199302 |
Reni Syndrome |
|
Lymphopenia |
OMIM:617575 |
Methanol Poisoning |
|
Abdominal pain, Vomiting, Diarrhea, Hyperlipidemia |
ORPHA:31825 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Fanconi Anemia |
|
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Abnormality of the liver... |
ORPHA:84 |
Ivic Syndrome |
|
Anal atresia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Gapo Syndrome |
|
Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower... |
ORPHA:2067 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Narrow mouth, Cryptorchidism, Small, conical teeth, High palate |
ORPHA:2962 |
Zttk Syndrome |
|
Bifid uvula, Abnormality of the dentition, Hypoplasia of the maxilla, Downturned corners of mouth... |
OMIM:617140 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Thrombocytosis, Leukocytosis, Anorexia, Hepatomegaly |
ORPHA:134 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Temporomandibular joint ankylosis, Abnormal dental morphology, Hepatosplenomegaly, Gingival overg... |
ORPHA:217085 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Microdontia, ... |
OMIM:618727 |
Huntington Disease |
|
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index |
ORPHA:399 |
Cockayne Syndrome B |
|
Carious teeth, Dental malocclusion, Splenomegaly, Cryptorchidism, Delayed eruption of primary tee... |
OMIM:133540 |
3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... |
ORPHA:2616 |
Stickler Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Gastroesophageal reflux, Microretrognathia, Long philtrum... |
ORPHA:828 |
Cornelia De Lange Syndrome |
|
Gastroesophageal reflux, Volvulus, Downturned corners of mouth, Widely spaced teeth, Intestinal m... |
ORPHA:199 |
Seckel Syndrome |
|
Short stature, Intrauterine growth retardation, Cachexia |
ORPHA:808 |
Cutaneous Mastocytoma |
|
Abdominal pain, Vomiting, Diarrhea, Nausea |
ORPHA:79455 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Temporomandibular joint ankylosis, Abnormal dental morphology, Hepatosplenomegaly, Gingival overg... |
ORPHA:217093 |
Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypoplastic sweat glands, Hypodontia, Natal tooth, Oligodontia |
OMIM:601345 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow palate, Submucous cleft lip, Mandibular prognathia, Exaggerated median tongue furrow, Meck... |
OMIM:312870 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Retrognat... |
OMIM:180700 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Eosinophili... |
ORPHA:284 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Gastroesophageal reflux, Nasogastric tube feeding, Pers... |
ORPHA:2044 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Bilateral cryptorchidism, Hamartoma of tongue, Periventricular heterotopia, Ac... |
ORPHA:434179 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:1782 |
Triple A Syndrome |
|
Achalasia, Anterior hypopituitarism |
ORPHA:869 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting |
ORPHA:29822 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay |
ORPHA:30925 |
Polymyositis |
|
Hepatomegaly, Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss |
ORPHA:732 |
Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth |
ORPHA:2484 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Natal tooth |
OMIM:616901 |
Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
Peters-Plus Syndrome |
|
Hypoplasia of the maxilla, Anteriorly placed anus, Cleft upper lip, Widely spaced teeth, Long phi... |
OMIM:261540 |
Robinow Syndrome |
|
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... |
ORPHA:97360 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Microretrognat... |
ORPHA:508488 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Decreased testicular size, Cleft soft palate... |
OMIM:619321 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Diarrhea, Pancytopenia, Abnormal esophagus physiology, Nause... |
ORPHA:99921 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Diarrhea, Hemolytic anemia |
OMIM:615399 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate |
ORPHA:158687 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Ogden Syndrome |
|
Diarrhea, Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, J... |
OMIM:300855 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Vomiting, Diarrhea |
OMIM:560000 |
Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Constipation |
ORPHA:36397 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vomiting, Thrombocytopenia, Diarrhea, Hypochromic microcytic anemia |
ORPHA:3240 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Cryptorchidism, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion... |
OMIM:268310 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Diarrhea, Xerostomia, Abdominal distention, Oral-pharyngeal dysphagia, Oral synechia, Anorexia, O... |
ORPHA:95455 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Intrauterine growth ... |
OMIM:619487 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gastroparesis, Intestinal pseudo-obstruction |
ORPHA:70595 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease... |
ORPHA:289390 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology |
ORPHA:2126 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Adenoma sebaceum, Supernum... |
ORPHA:3353 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Feeding difficulties |
OMIM:255120 |
Fabry Disease |
|
Vomiting, Diarrhea, Tenesmus, Nausea, Anemia, Abdominal pain |
OMIM:301500 |
Microphthalmia, Lenz Type |
|
Abnormality of the dentition, Delayed eruption of teeth, Abnormal dental morphology, Cryptorchidi... |
ORPHA:568 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Diarrhea, Xanthelasma, Pseudobulbar paralysis |
OMIM:213700 |
Yellow Fever |
|
Diarrhea, Vomiting, Pancreatic hyperplasia, Leukocytosis, Nausea, Abdominal pain, Hematemesis, Th... |
ORPHA:99829 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... |
OMIM:149730 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening, Protuberant abdomen |
ORPHA:50945 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Intestinal obstruction, Eosinophilia, Weight loss, Dysphagia |
ORPHA:183 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Vomiting, Secretory diarrhea |
OMIM:616069 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Cryptorchidism, Chronic constipation, Unilateral cryptorchidism, Chronic diarrhea, Feeding diffic... |
OMIM:617788 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Abnormal enteric ganglion morphology, Vomiting, Delayed eruption of teeth, Sup... |
OMIM:235730 |
Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Malar flattening, Aganglioni... |
OMIM:190685 |
Microphthalmia, Syndromic 2 |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... |
OMIM:300166 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Pancreatitis, Protuberant abdomen, Hepatomegaly, Intermittent diarrh... |
OMIM:232200 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Weight loss |
ORPHA:3165 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Vomiting, Diarrhea, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content, Hepato... |
ORPHA:263455 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea, Microangiopathic hemolytic anemia, Hyperlipidemia, Reticulocytosis, Schistocytosis, Thr... |
OMIM:235400 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnorma... |
ORPHA:158668 |
Central Diabetes Insipidus |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:178029 |
Mucopolysaccharidosis Type 2 |
|
Temporomandibular joint ankylosis, Gingival overgrowth, Splenomegaly, Hepatomegaly, Thick vermili... |
ORPHA:580 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Cryptorchidism, Decrea... |
OMIM:101800 |
Giant Cell Arteritis |
|
Gastrointestinal infarctions, Glossitis, Weight loss, Mediastinal lymphadenopathy |
ORPHA:397 |
Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Growth delay, Thrombocytopenia |
ORPHA:79242 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Intrauterine growth retardation, Weight loss, Proportionate short stature |
ORPHA:3208 |
Acrodermatitis Enteropathica |
|
Cheilitis, Furrowed tongue, Malabsorption, Anorexia, Glossitis, Chronic diarrhea, Poor appetite |
ORPHA:37 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Vomiting, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation |
OMIM:223900 |
Diamond-Blackfan Anemia 21 |
|
Micrognathia, Narrow mouth, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea |
OMIM:620072 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Viss Syndrome |
|
Increased circulating IgE level, Cleft soft palate, Micrognathia, Chronic constipation, Abdominal... |
OMIM:619472 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
Generalized Pustular Psoriasis |
|
Lymphopenia, Leukocytosis |
ORPHA:247353 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Cholelithiasis, Diarrhea, Intestinal pseudo-obstruction, Oral-p... |
ORPHA:273 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation |
OMIM:608643 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Paroxysmal Cold Hemoglobinuria |
|
Diarrhea, Coombs-positive hemolytic anemia, Nausea and vomiting, Autoimmune hemolytic anemia |
ORPHA:90035 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Diarrhea, Vomiting, Acute hepatic failure, Hepatic n... |
ORPHA:71212 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Vomiting, Pancytopenia, Diarrhea, Episodic vomiting |
OMIM:618321 |
Focal Dermal Hypoplasia |
|
Dental malocclusion, Delayed eruption of teeth, Anteriorly placed anus, Cleft upper lip, Intestin... |
OMIM:305600 |
Chikungunya |
|
Gingival bleeding, Vomiting, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Melnick-Needles Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Micrognathia, Stillbirth, Obtuse angle of mandible,... |
OMIM:309350 |
Ellis-Van Creveld Syndrome |
|
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Hypodontia, Abnormal alv... |
OMIM:225500 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Vomiting, Leukocytosis, Nausea, Hematemesis, Thrombocytopenia, Melena, Anemia, Abdomina... |
ORPHA:340 |
Reactive Arthritis |
|
Recurrent aphthous stomatitis, Abdominal pain, Inflammation of the large intestine, Diarrhea |
ORPHA:29207 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... |
ORPHA:220460 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Long philtrum, Narrow mouth, Orofacial cleft, Ovarian fibroma, Odontog... |
ORPHA:77301 |
Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Weight loss, Lymphaden... |
ORPHA:2905 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Deep philtrum, Achalasia, Dysphagia |
ORPHA:289483 |
Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Abdominal pain, Diarrhea |
OMIM:256700 |
Japanese Encephalitis |
|
Neutrophilia, Diarrhea, Vomiting, Increased circulating antibody level, Anorexia, Abdominal pain,... |
ORPHA:79139 |
Parathyroid Carcinoma |
|
Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... |
ORPHA:143 |
Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum... |
OMIM:601812 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Chronic diarrhea |
OMIM:301220 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties |
OMIM:620358 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Decreased testicular size, Persistence of primary teeth, Congenital hypoparathyroi... |
ORPHA:93325 |
Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... |
OMIM:614188 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Abnorma... |
ORPHA:2968 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Feeding difficulties in infancy, Vomiting, Hyperaldosteronism |
OMIM:264350 |
Charge Syndrome |
|
Gastroesophageal reflux, Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the zygomatic ... |
ORPHA:138 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Anemia |
ORPHA:85408 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens, Co... |
ORPHA:314647 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Cryptorchidism, Chronic constipation, Feeding difficulties in infancy, C... |
ORPHA:500055 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Esophagitis, Hepatic steatosis, Achalasia, Hepatomegaly, Feeding difficulties |
OMIM:615356 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Barber-Say Syndrome |
|
Breast aplasia, Hypoplastic nipples, Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
Prader-Willi Syndrome |
|
Small pituitary gland, Abnormality of the dentition, Vomiting, Xerostomia, Periodontitis, Poor su... |
ORPHA:739 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia |
OMIM:221350 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Neonatal death |
OMIM:609638 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Long philtrum, Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth,... |
OMIM:616007 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
8P23.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Obesity, Cryptorchidism, Weight loss, Short stature, High palate... |
ORPHA:251071 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia |
OMIM:609033 |
Cholera |
|
Vomiting, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps |
ORPHA:173 |
Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Thick lower lip vermilion, Neutropenia, Hepatomegaly, Vacuolated lymphocy... |
OMIM:208400 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Anemia, Diarrhea, Episodic vomiting |
OMIM:246450 |
Lipodystrophy, Familial Partial, Type 7 |
|
Vomiting, Diarrhea, Narrow mouth, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceride... |
OMIM:606721 |
Proteus Syndrome |
|
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ... |
ORPHA:744 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Peritonitis, Ileal atresia, Abdominal distention |
OMIM:619351 |
Fatal Familial Insomnia |
|
Weight loss, Dysphagia |
OMIM:600072 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Mediastinal lymphadenopathy, Failure to thrive |
ORPHA:79128 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth |
ORPHA:90024 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea |
OMIM:601979 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Hepatic steatosis, Reye syndrome-like episodes, Hepatomegaly |
ORPHA:348 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Polymicrogyria |
OMIM:619708 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Restrictive Dermopathy |
|
Microcolon, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous... |
ORPHA:1662 |
Colchicine Poisoning |
|
Nausea, Vomiting, Diarrhea, Leukocytosis |
ORPHA:31824 |
Occipital Horn Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Hepatitis, Long philtrum, Cholestasis, Gastroparesi... |
ORPHA:198 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Delayed eruption of teeth |
OMIM:259600 |
Hereditary Fructose Intolerance |
|
Diarrhea, Vomiting, Nausea, Abdominal pain, Chronic hepatic failure, Constipation, Abdominal dist... |
ORPHA:469 |
Marfan Syndrome |
|
High, narrow palate, Slender build, Cachexia, Cleft palate |
ORPHA:558 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Abdominal distention, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Vomiting, Diarrhea, Cryptorchidism, Episodic abdominal pain, Decreased cir... |
ORPHA:361 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Chronic lymphatic leukemia, Abnormality of the gastrointestinal trac... |
ORPHA:91139 |
Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Gastroparesis, Constipation, Dysphagia, Poor suck |
ORPHA:70 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ... |
ORPHA:79444 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention |
OMIM:606824 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Hyperaldosteronism, Feeding difficulties |
OMIM:177735 |
Fabry Disease |
|
Thick lower lip vermilion, Malabsorption, Nausea and vomiting, Hyperlipidemia, Achalasia, Anorexi... |
ORPHA:324 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Perianal dermatitis, Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Nausea, Chronic diarrhea |
OMIM:615084 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Delayed eruption of permanent teeth, Tented upper lip vermilion, Thyroid hypoplasia, Short philtr... |
ORPHA:521445 |
Leptospirosis |
|
Diarrhea, Hepatitis, Nausea and vomiting, Abdominal pain, Lymphadenopathy, Thrombocytopenia, Anor... |
ORPHA:509 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly |
ORPHA:75565 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea |
OMIM:619484 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Diarrhea, Megaloblastic anemia |
OMIM:618882 |
Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Colitis, Bloody diarrhea, Intesti... |
ORPHA:90068 |
Glossopharyngeal Neuralgia |
|
Weight loss, Odynophagia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ... |
ORPHA:79443 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Diarrhea, Nausea and vomiting, Decreased circulating cortisol level, Constipat... |
ORPHA:95409 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Graves Disease |
|
Weight loss, Goiter |
OMIM:275000 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Decreased circulating IgG level, Gastroesophageal reflux, Hypoplasia of the maxilla,... |
ORPHA:500150 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hepatic periportal necrosis, Hepatoce... |
ORPHA:90062 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Cryptorchidism, Agangli... |
OMIM:309800 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Ineffective esophageal peristalsis, Feeding difficulties, Chronic constipa... |
OMIM:209880 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal... |
ORPHA:2255 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Increased circulating pro... |
ORPHA:3455 |
Ramon Syndrome |
|
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
OMIM:266270 |
Sotos Syndrome |
|
Abnormality of the dentition, Gastroesophageal reflux, Agenesis of permanent teeth, Cryptorchidis... |
ORPHA:821 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Vomiting, Diarrhea |
ORPHA:230 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss, Pancreatitis, Anemia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas |
ORPHA:370348 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gastroesophageal reflux, Goiter, Gastroparesis, Abnormality of the liver, Constipation, Dysphagia |
ORPHA:254892 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Achalasia, Bilateral cryptorchidism |
OMIM:607398 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Pallister-Killian Syndrome |
|
Supernumerary nipple, Micrognathia, Cryptorchidism, Everted lower lip vermilion, Anal atresia, Th... |
OMIM:601803 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Cryptorchidism, Tracheoesophageal fistula, Rectoperineal ... |
OMIM:107480 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Gastroparesis, Dysphagia, Intestinal pseudo-obstruction |
OMIM:607459 |
Glucose-Galactose Malabsorption |
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Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention |
ORPHA:35710 |
Young-Onset Parkinson Disease |
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Gastroparesis, Diarrhea, Nausea, Constipation |
ORPHA:2828 |
Mucolipidosis Type Ii |
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Postnatal growth retardation, Hepatosplenomegaly, Splenomegaly, Weight loss, Short stature |
ORPHA:576 |
Amelogenesis Imperfecta, Type Ig |
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Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
Amyloidosis, Hereditary Systemic 1 |
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Diarrhea, Episodic vomiting, Constipation |
OMIM:105210 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Nausea, Vomiting, Diarrhea, Poor appetite |
ORPHA:542323 |
Sponastrime Dysplasia |
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Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ... |
ORPHA:93357 |
Meconium Ileus |
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Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Cystinosis, Nephropathic |
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Growth delay, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infancy,... |
OMIM:219800 |
Wrinkly Skin Syndrome |
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Carious teeth, Delayed eruption of teeth, Long philtrum, Cryptorchidism, Smooth philtrum, Small, ... |
ORPHA:2834 |
Autosomal Recessive Hypophosphatemic Rickets |
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Delayed eruption of teeth, Tooth abscess, Malabsorption |
ORPHA:289176 |
Wrinkly Skin Syndrome |
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Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Cryptorchidism, Micro... |
OMIM:278250 |
Perry Syndrome |
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Weight loss |
ORPHA:178509 |
African Trypanosomiasis |
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Diarrhea, Vomiting, Hepatosplenomegaly, Splenomegaly, Abnormality of circulating cortisol level, ... |
ORPHA:3385 |
Enterokinase Deficiency |
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Diarrhea |
OMIM:226200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
Pneumocystosis |
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Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Focal Myositis |
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Weight loss |
ORPHA:48918 |
Loeffler Endocarditis |
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Eosinophilia, Weight loss |
ORPHA:75566 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Microdontia, High palate |
OMIM:143095 |
Enamel-Renal Syndrome |
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Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu... |
OMIM:619482 |
Achalasia, Familial Esophageal |
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Xerostomia, Achalasia |
OMIM:200400 |
Acute Transverse Myelitis |
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Paralytic ileus, Gastroparesis, Constipation, Abscess |
ORPHA:139417 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Microretrognathia, Long philtrum, Gastroparesis, Cryptorchidism, Neonatal death |
OMIM:614052 |
Blue Diaper Syndrome |
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Diarrhea |
ORPHA:94086 |
Non-Functioning Paraganglioma |
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Weight loss |
ORPHA:94080 |
Behçet Disease |
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Gastrointestinal hemorrhage, Splenomegaly, Orchitis, Weight loss, Pancreatitis, Lymphadenopathy |
ORPHA:117 |
Pallister-Hall Syndrome |
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Bifid uvula, Secondary growth hormone deficiency, Microglossia, Cleft lip, Natal tooth, Microretr... |
ORPHA:672 |
Occipital Horn Syndrome |
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Hiatus hernia, High palate, Chronic diarrhea, Long philtrum |
OMIM:304150 |
Autosomal Recessive Cutis Laxa Type 1 |
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Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis |
ORPHA:90349 |
Restrictive Dermopathy 1 |
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Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ... |
OMIM:275210 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Weight loss, Goiter |
OMIM:188580 |
Encephalopathy, Ethylmalonic |
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Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Granulomatosis With Polyangiitis |
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Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Pancreatitis, Granulomatosis |
ORPHA:900 |
Congenital Disorder Of Glycosylation, Type Im |
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Vomiting, Diarrhea, Increased circulating free fatty acid level |
OMIM:610768 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Weight loss, Goiter |
OMIM:613239 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Gastroparesis, Dysphagia |
OMIM:157640 |
Autosomal Dominant Epidermolytic Ichthyosis |
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Weight loss |
ORPHA:312 |
Hermansky-Pudlak Syndrome |
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Gastrointestinal hemorrhage, Weight loss, Neutropenia |
ORPHA:79430 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Diarrhea, Constipation |
OMIM:608654 |
Distal Renal Tubular Acidosis |
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Vomiting, Diarrhea, Constipation, Hemolytic anemia, Poor appetite |
ORPHA:18 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Thyroid C cell hyperplasia, Delayed eruption of primary teeth |
OMIM:300952 |
Osteosarcoma |
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Weight loss |
ORPHA:668 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Failure to thrive, Intrauterine growth retardation, Weight loss, Reduced p... |
ORPHA:99885 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis... |
ORPHA:177901 |
Gitelman Syndrome |
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Diarrhea, Nausea and vomiting, Iron deficiency anemia, Constipation, Parathyroid adenoma, Primary... |
ORPHA:358 |
Pyomyositis |
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Testicular teratoma, Weight loss, Leukocytosis |
ORPHA:764 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis... |
ORPHA:98793 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating cortisol level, Achalasia |
OMIM:231550 |
Serotonin Syndrome |
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Nausea, Hepatic failure, Diarrhea |
ORPHA:43116 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis... |
ORPHA:177904 |
Specc1L-Related Hypertelorism Syndrome |
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Long philtrum, Cryptorchidism, Advanced eruption of teeth, Orofacial cleft, Everted lower lip ver... |
ORPHA:1519 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Weight loss |
ORPHA:79127 |
Scalp-Ear-Nipple Syndrome |
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Breast aplasia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2036 |
Autosomal Dominant Cutis Laxa |
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Feeding difficulties, Vomiting, Small bowel diverticula |
ORPHA:90348 |
Short Syndrome |
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Severe short stature, Weight loss |
ORPHA:3163 |
Liposarcoma |
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Weight loss |
ORPHA:69078 |
Bullous Pemphigoid |
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Weight loss |
ORPHA:703 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Achalasia |
OMIM:300858 |
Norrie Disease |
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Cachexia, Delayed puberty, Cryptorchidism, Failure to thrive |
ORPHA:649 |
Hereditary Late-Onset Parkinson Disease |
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Weight loss, Dysphagia |
ORPHA:411602 |
Erythroderma Desquamativum |
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Diarrhea |
ORPHA:314 |
Postinfectious Vasculitis |
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Orchitis, Weight loss, Gastrointestinal inflammation, Unusual gastrointestinal infection, Viral h... |
ORPHA:48435 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Gastroparesis, Bowel incontinence, Polymicrogyria |
OMIM:618877 |
Nmda Receptor Encephalitis |
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Testicular teratoma, Vomiting, Diarrhea, Ovarian teratoma, Neoplasm of the thymus |
ORPHA:217253 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Cerebrotendinous Xanthomatosis |
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Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea, Premature loss of teeth |
ORPHA:909 |
Juvenile Dermatomyositis |
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Gastrointestinal hemorrhage, Weight loss, Dysphagia |
ORPHA:93672 |
Familial Hypoaldosteronism |
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Diarrhea, Nausea and vomiting, Feeding difficulties |
ORPHA:427 |
Complement Component 5 Deficiency |
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Intractable diarrhea |
OMIM:609536 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma |
ORPHA:276621 |
Proximal Renal Tubular Acidosis |
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Enamel hypomineralization, Vomiting, Diarrhea, Malabsorption |
ORPHA:47159 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Choreoacanthocytosis |
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Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enzyme concentration or act... |
ORPHA:2388 |
Scorpion Envenomation |
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Abdominal pain, Vomiting, Diarrhea, Acute pancreatitis |
ORPHA:466677 |
Granulomatosis With Polyangiitis |
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Weight loss, Granulomatosis |
OMIM:608710 |
Cardiospondylocarpofacial Syndrome |
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Gastroesophageal reflux, Long philtrum, Gastroparesis, Decreased testicular size, Wide mouth, Fee... |
OMIM:157800 |
Systemic Lupus Erythematosus |
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Leukopenia, Weight loss, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia |
ORPHA:536 |
Renal Nutcracker Syndrome |
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Anemia, Weight loss |
ORPHA:71273 |
Adrenocortical Carcinoma |
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Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss |
ORPHA:1501 |
Erdheim-Chester Disease |
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Anemia, Weight loss, Retroperitoneal fibrosis |
ORPHA:35687 |
Rheumatoid Arthritis |
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Weight loss |
OMIM:180300 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Hydrocele testis, Weight loss |
ORPHA:49041 |
Oculopharyngodistal Myopathy 1 |
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High palate, Weight loss, Dysphagia |
OMIM:164310 |
Familial Gestational Hyperthyroidism |
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Diarrhea, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Nocardiosis |
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Peritonitis, Weight loss, Lymphadenitis, Liver abscess |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
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High palate, Weight loss, Dysphagia, Failure to thrive |
ORPHA:2020 |
Hereditary Pheochromocytoma-Paraganglioma |
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Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma |
ORPHA:29072 |
Pemphigus Vulgaris |
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Weight loss |
ORPHA:704 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperparathyroidism, Vomiting, Diarrhea, Hyperaldosteronism, Constipation |
OMIM:601678 |
Dermatomyositis |
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Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Dysphagia, Weight loss |
ORPHA:221 |
Phoar2-Enteropathy Syndrome |
|
Secretory diarrhea |
OMIM:614441 |
Pulmonary Alveolar Microlithiasis |
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Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Tsh-Secreting Pituitary Adenoma |
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Secondary growth hormone deficiency, Increased circulating prolactin concentration, Goiter, Adren... |
ORPHA:91347 |
Bartter Syndrome, Type 2, Antenatal |
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Vomiting, Diarrhea, Hyperaldosteronism, Constipation, Impaired platelet aggregation |
OMIM:241200 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Secretory diarrhea |
OMIM:167100 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Failure to thrive, Decreased testicular size, Weight loss, Short stature, Testicular adrenal rest... |
ORPHA:90794 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Reduced hematocrit, Weight loss, Normochromic anemia |
ORPHA:91500 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Growth delay |
ORPHA:3337 |
Goodpasture Syndrome |
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Anemia, Weight loss |
OMIM:233450 |