Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Malnutritio... |
OMIM:612714 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... |
ORPHA:75233 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... |
OMIM:278000 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Reduced natural killer cell activity, Feeding difficulties in infa... |
OMIM:616050 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Asplenia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, P... |
OMIM:612776 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A... |
OMIM:607765 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto... |
ORPHA:2070 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... |
ORPHA:100025 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Squamous Cell Carcinoma Of The Esophagus |
|
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... |
OMIM:235555 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Diarrhea, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis,... |
OMIM:602579 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Abdomina... |
ORPHA:398063 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Villous atrophy, Chronic diarrhea, T lymphocytopenia, Decreased ... |
OMIM:619510 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,... |
OMIM:615863 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia |
OMIM:618752 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr... |
OMIM:613812 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Leukocytosis, Decreased circulating ant... |
OMIM:243150 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Increased stool alpha1-antitrypsin concentr... |
ORPHA:90362 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Increased hepatocellular lipid droplets, Acanthocytosi... |
ORPHA:71 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Chronic diar... |
OMIM:304790 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Diarrh... |
OMIM:240300 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Abnormal dental morphology, Malabsorption, Chronic dia... |
ORPHA:2176 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ly... |
ORPHA:99976 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Iron deficienc... |
OMIM:212750 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... |
ORPHA:811 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Hypocholesterolemia, Malar flattening, Steatorrhea |
OMIM:266510 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Copper accumulation in liver, Periportal fibrosis, Prolonged neonatal jaundice,... |
OMIM:619481 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract... |
OMIM:209920 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esopha... |
ORPHA:75234 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e... |
OMIM:613502 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Primary Ciliary Dyskinesia |
|
Intestinal malrotation, Asplenia, Chronic sinusitis, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... |
OMIM:613662 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Steatorr... |
ORPHA:79303 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody level, Leukop... |
ORPHA:33355 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... |
ORPHA:42642 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... |
ORPHA:314652 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... |
OMIM:614602 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormality of neuronal migration, Narr... |
ORPHA:2063 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Dental crowding, Splenomegaly, Chronic diarrhea, Steatorrhea, Feeding difficulties,... |
OMIM:618268 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Sweeney-Cox Syndrome |
|
Micrognathia, Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Shor... |
OMIM:617746 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia |
OMIM:602361 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Steatorrhea, High palate, Neutropenia, Hyperechogenic ... |
OMIM:617941 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circul... |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Abnormality of neut... |
ORPHA:229717 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen |
ORPHA:2487 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Hepatomegaly, Villous atrophy, Feeding difficulties in infancy, Diarrhe... |
OMIM:212065 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis |
OMIM:615558 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Oral ulcer, T lymphocytopenia, ... |
OMIM:619381 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Cleft lip, Feeding difficulties in infancy, Cryptorchidism, Cleft palate,... |
OMIM:619123 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Thrombocytopenia, Abdominal distention, Hyperlipidemia, Abnormal primar... |
ORPHA:1830 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A... |
OMIM:616100 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Micrognathia, Asplenia, Esophageal atresia, Gastrointestinal a... |
OMIM:164280 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Anorexia,... |
OMIM:557000 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... |
OMIM:613471 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome... |
OMIM:219700 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Conical tooth, Feeding difficulties in in... |
ORPHA:98813 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia, Polysplenia, Chronic sinusitis, Reduced progressive spe... |
OMIM:619608 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Aphthous ulcer, Increased circulating IgE level, Decreased proportion of class-s... |
OMIM:615767 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... |
OMIM:618969 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Solitary median maxillary central incisor, High palate, Intestinal malrotation |
OMIM:619657 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnorm... |
ORPHA:99776 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent... |
ORPHA:79665 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis, Oral ulcer |
OMIM:618287 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Feingold Syndrome |
|
Micrognathia, Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, D... |
ORPHA:1305 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... |
ORPHA:733 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ... |
OMIM:619281 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ... |
OMIM:619573 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia |
OMIM:605376 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome... |
ORPHA:567983 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly... |
ORPHA:89844 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the dentition, Celiac di... |
OMIM:615952 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis,... |
ORPHA:77297 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea |
OMIM:617308 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Lymphadenopathy, Inflammatio... |
ORPHA:26790 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Increased circulating IgE level, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... |
OMIM:608184 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Netherton Syndrome |
|
Villous atrophy, Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgG le... |
OMIM:256500 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of... |
OMIM:260400 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla... |
ORPHA:84064 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Increased mean platelet volume, Abnormality of the pancreas, Splen... |
OMIM:222470 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Meckel diverticulum, Increased circulating IgA level, Carious teeth, Pyloric stenosi... |
OMIM:616395 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Abdominal pain, Perianal absces... |
ORPHA:2686 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Thromb... |
ORPHA:470 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... |
OMIM:619377 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Diarrhea, Esophageal c... |
ORPHA:391487 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Protruding tongue, Micrognathia, Malabsorption, Diarrhea, T lymphocytopenia, Macroglos... |
OMIM:242860 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu... |
ORPHA:298 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... |
OMIM:618394 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Thick vermi... |
OMIM:616354 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia |
OMIM:617784 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Feeding difficulties in infancy, Eru... |
ORPHA:476126 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Diarrhea, Malabsorption |
OMIM:600955 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... |
OMIM:211600 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-phar... |
ORPHA:100083 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Increased cir... |
OMIM:619752 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome... |
ORPHA:1775 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... |
ORPHA:2136 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Intestinal malrotation, Micrognathia, Asplenia, Cleft lip, Esophageal atresi... |
OMIM:265380 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chr... |
ORPHA:209964 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat... |
ORPHA:3473 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Cog7-Cdg |
|
Hepatomegaly, Micrognathia, Jaundice, Diarrhea, Hepatosplenomegaly, Feeding difficulties, Narrow ... |
ORPHA:79333 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting |
OMIM:606528 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Malformation of ... |
OMIM:249000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Decreased circulating antibody level, Malabsorption |
ORPHA:99811 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... |
ORPHA:343 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Hypocholesterolemia, Acanthocytosis, Chronic diarrhea, Hepatic fib... |
ORPHA:14 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Constipation, Anemia |
OMIM:614450 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocytopenia, I... |
OMIM:618108 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... |
OMIM:615122 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Steatorrhea, Exo... |
ORPHA:309031 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Anemia, Protein-losing... |
OMIM:608104 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth... |
OMIM:243605 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen... |
ORPHA:33276 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, Retrognathia, Decreased circulating antibody level, Decreased circulating total IgM, Hi... |
OMIM:614069 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepat... |
OMIM:616263 |
Diffuse Cutaneous Mastocytosis |
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Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
American Trypanosomiasis |
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Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenom... |
ORPHA:3386 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulat... |
OMIM:226300 |
Tetraamelia Syndrome 1 |
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Cleft upper lip, Asplenia, Micrognathia, Cleft palate, Adrenal gland agenesis, Anal atresia |
OMIM:273395 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Dental crowding, Persistence of primary teeth, Hiatus hernia, Feeding difficulties, Persistence o... |
OMIM:619769 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pan... |
OMIM:235255 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Intestinal Dysmotility Syndrome |
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Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... |
ORPHA:2863 |
X-Linked Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Malabsorption, Thro... |
ORPHA:47 |
Whim Syndrome |
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Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu... |
ORPHA:51636 |
Pancreatitis, Hereditary |
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Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocr... |
OMIM:167800 |
Melioidosis |
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Brain abscess, Liver abscess, Lung abscess, Abnormality of the spleen, Hepatitis, Abnormal paroti... |
ORPHA:31202 |
Kikuchi-Fujimoto Disease |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Anorexia, T... |
ORPHA:50918 |
Classic Mycosis Fungoides |
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Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency 7 |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, C... |
OMIM:614576 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... |
ORPHA:227990 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Abnormal im... |
ORPHA:276 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Alg6-Cdg |
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Jaundice, Feeding difficulties, Macroglossia, Abnormality of the liver, Protein-losing enteropathy |
ORPHA:79320 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ... |
ORPHA:83471 |
Mucopolysaccharidosis, Type Ii |
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Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, T... |
OMIM:309900 |
Failure Of Tooth Eruption, Primary |
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Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Autosomal Agammaglobulinemia |
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Sinusitis, Malabsorption, Diarrhea, Hepatitis, Agammaglobulinemia, High palate, Neutropenia |
ORPHA:33110 |
Small Bowel Atresia |
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Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:319487 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ... |
OMIM:308230 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... |
ORPHA:169160 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
Angioedema, Hereditary, 8 |
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Abdominal pain, Diarrhea, Episodic vomiting, Swollen lip |
OMIM:619367 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
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Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Sapho Syndrome |
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Malabsorption, Abdominal pain, Craniofacial osteosclerosis, Chronic diarrhea, Inflammation of the... |
ORPHA:793 |
Smith-Magenis Syndrome |
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Mandibular prognathia, Tented upper lip vermilion, Hypertriglyceridemia, Delayed eruption of prim... |
ORPHA:819 |
Gigantiform Cementoma, Familial |
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Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:97290 |
Waldenström Macroglobulinemia |
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Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick lower lip vermil... |
OMIM:618342 |
Pseudoaminopterin Syndrome |
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Micrognathia, Asplenia, Nasogastric tube feeding in infancy, Cryptorchidism, Orofacial cleft, Hig... |
ORPHA:221120 |
Renpenning Syndrome |
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Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... |
ORPHA:3242 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... |
OMIM:615285 |
Enteric Anendocrinosis |
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Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting |
ORPHA:83620 |
Johanson-Blizzard Syndrome |
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Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Abnormality of the pancre... |
ORPHA:2315 |
Cystic Fibrosis |
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Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesopha... |
ORPHA:586 |
Ciliary Dyskinesia, Primary, 1 |
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Asplenia, Chronic sinusitis, Absent frontal sinuses |
OMIM:244400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Autoinflammatory-Pancytopenia Syndrome |
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Pancytopenia, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Cholestatic liver di... |
OMIM:619858 |
Amelogenesis Imperfecta, Type Ia |
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Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Intestinal obstruction, Abdominal pain, Aphthous ulcer, Diarrhea, Ulcerative colitis, Inflammatio... |
OMIM:266600 |
Mirage Syndrome |
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Cryptorchidism, Esophageal stricture, Chronic diarrhea, Anemia, Leukopenia, Gastroesophageal refl... |
OMIM:617053 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Oculoskeletodental Syndrome |
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Hepatomegaly, Splenomegaly, Cryptorchidism, Macroglossia, Oligodontia, Protein-losing enteropathy |
OMIM:618440 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Gapo Syndrome |
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Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Hyp... |
OMIM:230740 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Premature loss o... |
ORPHA:486 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Al Amyloidosis |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Howell-Joll... |
ORPHA:85443 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Hypopl... |
OMIM:211380 |
Feingold Syndrome 2 |
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Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Immunodeficiency, Common Variable, 7 |
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Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... |
OMIM:614699 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Mpi-Cdg |
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Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Prote... |
ORPHA:79319 |
Fish-Eye Disease |
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Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Spinocerebellar Ataxia 48 |
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Cachexia, Dysphagia |
OMIM:618093 |
Catifa Syndrome |
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Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Marbach-Rustad Progeroid Syndrome |
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Delayed eruption of primary teeth, Micrognathia, Poor appetite, Eruption failure, Hypodontia, Nar... |
OMIM:619322 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal ... |
ORPHA:85450 |
Trichodentoosseous Syndrome |
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Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Otopalatodigital Syndrome, Type I |
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Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... |
OMIM:311300 |
Mitchell-Riley Syndrome |
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Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Whipple Disease |
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Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Malabsorption, Mediastinal lymphadenopathy, ... |
ORPHA:3452 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Alexander Disease Type I |
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Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia, Persistence of primary teeth, Increased circulating IgE level, High palate, Cutaneo... |
OMIM:147060 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption,... |
ORPHA:79302 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex... |
OMIM:181000 |
Aredyld Syndrome |
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Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation |
ORPHA:1133 |
Familial Pancreatic Carcinoma |
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Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ... |
ORPHA:1655 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Asplenia, ... |
ORPHA:564 |
Squamous Cell Carcinoma Of The Anal Canal |
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Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm... |
ORPHA:424019 |
Idiopathic Achalasia |
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Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, High, narrow palate, Rec... |
ORPHA:79076 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Lymphadenopathy, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Tooth Agenesis, Selective, 9 |
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Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Cryptorchidism, Micrognathia |
ORPHA:2645 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Micrognathia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadeno... |
ORPHA:99812 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation |
ORPHA:99745 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia |
ORPHA:884 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Anemia, Intestinal atresia |
ORPHA:3405 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Ulcerative colitis, Decreased ci... |
OMIM:617638 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, Abdominal situs inversus, Polys... |
OMIM:306955 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at... |
OMIM:270100 |
Moynahan Syndrome |
|
Short stature, Cachexia |
ORPHA:2574 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Graft Versus Host Disease |
|
Abdominal pain, Trismus, Jaundice, Diarrhea, Oral ulcer, Lymphadenopathy, Chronic hepatitis, Hepa... |
ORPHA:39812 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Mediastinal lymphadenopathy, Thrombocytopenia, Diarrhea... |
ORPHA:169105 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,... |
ORPHA:449563 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis, Hepatic failure, R... |
OMIM:613489 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pachygyria, Cr... |
OMIM:235510 |
Selective Igm Deficiency |
|
Lymphadenitis, Paraproteinemia, Decreased proportion of transitional B cells, Stomach cancer, Dec... |
ORPHA:331235 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stricture, Chronic diarrh... |
OMIM:613989 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Feeding difficulties in infancy, Wide mouth, Chronic ... |
OMIM:618825 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Bone marrow hypocellularity, Smooth philtrum, Taurodontia |
OMIM:614378 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Short stature, Aganglionic megacolon, Failure to th... |
ORPHA:388 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Xero... |
ORPHA:79078 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... |
ORPHA:231226 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting |
OMIM:605911 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill... |
OMIM:615966 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... |
ORPHA:342 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... |
OMIM:615592 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul... |
ORPHA:2712 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, Macrov... |
OMIM:616433 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Micrognathia, Retrognathia, Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Naso... |
ORPHA:163961 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Snijders Blok-Campeau Syndrome |
|
Feeding difficulties, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia |
OMIM:618205 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Hypercholesterolemia, Hepatosplenomegaly, Feeding difficulties, C... |
ORPHA:263501 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Oral u... |
ORPHA:93552 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Mandibular prognathia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent ... |
OMIM:619971 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Es... |
ORPHA:264580 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Au... |
ORPHA:37042 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Diarrhea, Everted lower lip vermilion, Dysphagia |
OMIM:252930 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Alg9-Cdg |
|
Microretrognathia, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, Villous atrophy, Micr... |
ORPHA:79328 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Abnormality of the spleen, Anorectal anomaly, Gingival overgrowth, Tracheoesophagea... |
ORPHA:1834 |
Shigellosis |
|
Acute colitis, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Leukocytosis, Peritonit... |
ORPHA:810 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Micrognathia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemi... |
ORPHA:2575 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... |
ORPHA:90045 |
Aa Amyloidosis |
|
Hepatomegaly, Abnormal oral mucosa morphology, Malabsorption, Abdominal pain, Chronic diarrhea, M... |
ORPHA:85445 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... |
ORPHA:100079 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Ileus, Aganglionic megacolon, Short stature |
ORPHA:52503 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp... |
ORPHA:231214 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Rubinstein-Taybi Syndrome 2 |
|
Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pala... |
OMIM:613684 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro... |
OMIM:615607 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Cleft palate, Feeding diffi... |
OMIM:614607 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ab... |
ORPHA:2409 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth,... |
ORPHA:2348 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Dysphagia, Micrognathia |
OMIM:617802 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Dental crowding, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Macroglossia |
OMIM:618523 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... |
ORPHA:79327 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Dpm1-Cdg |
|
Hepatomegaly, Tented upper lip vermilion, Micrognathia, High, narrow palate, Diarrhea, Hepatosple... |
ORPHA:79322 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod... |
OMIM:300755 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Abnormality of ... |
ORPHA:289494 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... |
ORPHA:67 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Hyper-Igd Syndrome |
|
Neutrophilia, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splen... |
OMIM:260920 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, Gastroesophageal reflux, High palate, Neonatal death |
OMIM:618186 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Ap... |
OMIM:249100 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Erup... |
OMIM:166250 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content |
OMIM:261750 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit... |
ORPHA:319218 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric... |
OMIM:607906 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Feeding difficulties i... |
ORPHA:534 |
Fryns Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic megacolon, ... |
OMIM:229850 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Microcytic anemia, Deep philtrum, Hepatosplenomegaly, Lymphadenopathy, Dec... |
OMIM:619750 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukopenia, Bone m... |
OMIM:603467 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Feeding difficultie... |
OMIM:613385 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption... |
ORPHA:763 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Gastrointestinal dysmotility, Enterocolitis, ... |
ORPHA:90051 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Diarrhea, High palate, L... |
OMIM:300215 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ... |
ORPHA:379 |
Malakoplakia |
|
Abdominal pain, Follicular hyperplasia, Orchitis, Diarrhea, Abnormality of the tongue, Neoplasm o... |
ORPHA:556 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Isolated Biliary Atresia |
|
Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthela... |
ORPHA:30391 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Oral ulcer, Iron deficiency anemia... |
OMIM:301074 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Diarrh... |
ORPHA:32960 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Feeding difficulties, Wide mouth, Macroglossia, Delayed eruption of permanent teeth... |
OMIM:614608 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abdominal pain, Diarrhea, Leukope... |
ORPHA:99828 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Weight loss, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Rapp-Hodgkin Syndrome |
|
Supernumerary nipple, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal i... |
OMIM:129400 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,... |
ORPHA:247806 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... |
OMIM:615190 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Gastrointestinal dysmotility... |
ORPHA:2152 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Choles... |
OMIM:615895 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level |
ORPHA:100 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... |
OMIM:603041 |
B4Galt1-Cdg |
|
Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Diarrhea, Long philtrum |
ORPHA:79332 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... |
OMIM:609029 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Short philtrum, Bifid uvula,... |
ORPHA:261537 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom... |
OMIM:269860 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Hypodontia, Feeding difficulties |
OMIM:620270 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Phe... |
ORPHA:1332 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long philtrum |
OMIM:190440 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced tee... |
OMIM:617865 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Splenomegaly, Jaundice,... |
ORPHA:540 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr... |
ORPHA:2059 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Schistocyto... |
ORPHA:90038 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Carious... |
ORPHA:1896 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Zygomycosis |
|
Sinusitis, Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Brain absc... |
ORPHA:73263 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... |
ORPHA:100078 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, He... |
ORPHA:79259 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Intractable diarrhea, To... |
OMIM:617475 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... |
ORPHA:2250 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism, Microdontia |
OMIM:619718 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... |
ORPHA:100082 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Hepatocellular adenoma, Polycystic ov... |
ORPHA:79240 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... |
ORPHA:100924 |
Immunodeficiency 9 |
|
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenes... |
OMIM:612782 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplastic anemia, Micrognathia, Carious teeth, Feeding difficulties in ... |
OMIM:223370 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Cryptorchidism, Submucous cl... |
ORPHA:96170 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus, Mi... |
OMIM:609313 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Cryptorchidism, Triangular mouth, Cleft palate, Lo... |
OMIM:257300 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Feeding difficulties, Wide mouth, Delayed eruption of permanent teeth, T... |
OMIM:618506 |
Jacobsen Syndrome |
|
Intestinal malrotation, Feeding difficulties in infancy, Thrombocytopenia, Pyloric stenosis, Cryp... |
ORPHA:2308 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite... |
ORPHA:100075 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening |
OMIM:614592 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... |
OMIM:615934 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Cervical lymphadenopathy, Chronic diar... |
OMIM:142680 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ... |
OMIM:247200 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Bloody d... |
OMIM:617718 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... |
ORPHA:100080 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia |
OMIM:300514 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypoparathyroidism, Anal stenosis, Abnormality of neutrophils, Microgn... |
ORPHA:235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Short philtrum, Bifid uvula,... |
ORPHA:261552 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Gingival bleeding, Hypopitui... |
ORPHA:449285 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... |
ORPHA:252164 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Abnormal intestine morphology, Short stature |
ORPHA:977 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Carious teeth, Dysphagia, Widely spaced teeth, Ga... |
OMIM:619229 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrh... |
OMIM:620233 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Gingival overgrowth... |
OMIM:135500 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophili... |
ORPHA:797 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cachexia |
ORPHA:42 |
Lead Poisoning |
|
Delayed eruption of teeth, Anorexia, Abdominal pain, Abdominal distention, Increased circulating ... |
ORPHA:330015 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Mandibular prognathia, Duodenal polyposis, Micrognathia, Abnormality of canine, Adenomatous colon... |
ORPHA:261584 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth, Reduced progressive sperm motility |
OMIM:620277 |
Carcinoid Syndrome |
|
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi... |
ORPHA:100093 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Abdominal pain, Splenomegaly, Leukocytosis, Apht... |
OMIM:615688 |
Carpenter Syndrome 1 |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Agenesis o... |
OMIM:201000 |
Cutaneous Mastocytoma |
|
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea |
ORPHA:79455 |
Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Intestinal malrotation, Abdominal distention, Gastrointestinal atres... |
ORPHA:436252 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Hypocholesterolemia, Fat... |
ORPHA:96180 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Generaliz... |
ORPHA:160 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Diarrhea, Feeding difficulties, Anemia, Macroglossia, ... |
ORPHA:79325 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... |
ORPHA:314621 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Re... |
OMIM:601495 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Hypogeusia, Decrea... |
OMIM:201100 |
Hermansky-Pudlak Syndrome 2 |
|
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Reduced ... |
OMIM:608233 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... |
ORPHA:2072 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... |
OMIM:603553 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia |
ORPHA:447896 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Acrofacial Dysostosis, Palagonia Type |
|
Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ... |
ORPHA:1787 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Feeding difficulties, Widel... |
OMIM:619797 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate |
OMIM:272460 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Eosinophilia, Abnormality of the dentition, Increased circulating IgE ... |
ORPHA:2314 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Increased circulating IgA level, Enlarged polycystic ovaries, Biliary cirrhosis... |
ORPHA:2298 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Abdominal pain, Retroperitoneal fibrosis, Lymphad... |
ORPHA:449395 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Duodena... |
OMIM:619227 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ... |
OMIM:300636 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobulinemia, Micrognathia, Malar ... |
OMIM:251260 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Aplastic anemia, Selective tooth agenesis, Abnormal dental enamel morp... |
ORPHA:2909 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Menke-Hennekam Syndrome 2 |
|
Thin upper lip vermilion, Duodenal ulcer, Micrognathia, Deep philtrum, Agenesis of permanent teet... |
OMIM:618333 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Chronic diarrhea, Gingivitis, Rectal abscess, Periodontitis |
OMIM:116920 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:221008 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Rett Syndrome |
|
Cachexia, Gastroesophageal reflux, Short stature |
OMIM:312750 |
Blau Syndrome |
|
Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp... |
ORPHA:90340 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen... |
OMIM:610377 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:221016 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Cryptorchidism, Narrow jaw, Narrow palate, Feeding di... |
OMIM:117550 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill... |
ORPHA:280200 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Episodic vomiting |
OMIM:272300 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Micrognathia, Thrombocytopenia, Splenomegaly, Supernumerary toot... |
OMIM:619525 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Duodenal atresia |
OMIM:617798 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... |
ORPHA:3260 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia |
OMIM:614381 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... |
ORPHA:913 |
Anti-Glomerular Basement Membrane Disease |
|
Anemia, Persistence of primary teeth |
ORPHA:375 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Cleft lip, Gastrointe... |
ORPHA:1199 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ... |
OMIM:616788 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Micrognathia, Persistence of primary teeth, Abnormality of the dentit... |
ORPHA:2785 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Splenomegaly, Diarrhea, Thick lower lip vermilion, Wide mouth, Macroglossia, Thick ... |
OMIM:252940 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Micrognathia |
ORPHA:2547 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Hamartoma of tongue, Cleft up... |
OMIM:311200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Micrognathia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... |
OMIM:618183 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ... |
ORPHA:508542 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate... |
ORPHA:109 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Cryptorchidism, Supernumerary too... |
OMIM:268400 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Hepatic fibrosis, Bone marrow... |
OMIM:224230 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Cryptorchidi... |
OMIM:610253 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, He... |
OMIM:615846 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Conical tooth, Splenomegaly, Chronic diarrhea, Aplasia of the sweat glands, Hypodon... |
OMIM:612132 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... |
OMIM:122470 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Thin lower lip vermilion, Diarrhea, Abnormal T cell subset distribution, Decreased circulating an... |
ORPHA:221139 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short stature, Cachexia, Thrombocyt... |
ORPHA:647 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Cachexia |
ORPHA:1933 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphaden... |
ORPHA:2552 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long... |
ORPHA:77258 |
Distal Deletion 12Q |
|
Median cleft lip, Unilateral cryptorchidism, Micrognathia, High, narrow palate, Supernumerary too... |
ORPHA:96149 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
H Syndrome |
|
Hypertriglyceridemia, Cleft upper lip, Microcytic anemia, Malabsorption, Gingival overgrowth, Hep... |
ORPHA:168569 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... |
ORPHA:217346 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Diarrhea |
OMIM:252920 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... |
ORPHA:228426 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... |
OMIM:616740 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Tooth agenesis, Microdontia, Hypercholesterolemia |
ORPHA:633 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Achalasia, Micrognathia |
ORPHA:929 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Intractable diarrhea, Enam... |
OMIM:226730 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Gastroesophageal reflux, An... |
ORPHA:261652 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet... |
OMIM:619080 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Micrognathia, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Sto... |
ORPHA:1052 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Diarrhea |
OMIM:252900 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Hypertriglyceridemia, Micrognathia, Splenomegaly, Polycystic ovaries, Advanced erup... |
ORPHA:280365 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Rectal atresia, Biliary atre... |
OMIM:115470 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Macroglossia, Chronic const... |
OMIM:253200 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... |
ORPHA:137834 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Thrombocytopenia, Dysphagia |
OMIM:615750 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Feed... |
ORPHA:512 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Cleft lip, Cryptorchidism, Furrowed tongue, Feeding difficulties, High palate, Broa... |
OMIM:616975 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Gingival overgrowt... |
OMIM:301072 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Plague |
|
Chapped lip, Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Di... |
ORPHA:707 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Thin vermilion border, Narrow mouth, Achalasia, Long philtrum |
ORPHA:3307 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... |
ORPHA:181 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality... |
ORPHA:2092 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:36412 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure |
ORPHA:3196 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Mediastinal lymphadenopat... |
ORPHA:809 |
Complement Component 4B Deficiency |
|
Chronic diarrhea, Chronic active hepatitis, Recurrent sinusitis |
OMIM:614379 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion border, Lo... |
OMIM:214150 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Hypertriglyceridemia, Microvesicular hepatic s... |
OMIM:619418 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Delayed eruption of primary teeth, Poor appetite, Gastrointestinal dysmotility, ... |
OMIM:617799 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide mouth, Ev... |
ORPHA:96092 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Abdominal pain, Encopresis, Diarrhea, Gastroesophageal reflux, Consti... |
ORPHA:589821 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology |
ORPHA:171851 |
Plasminogen Deficiency, Type I |
|
Periodontitis, Gingival overgrowth, Gingivitis, Duodenal ulcer |
OMIM:217090 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ... |
ORPHA:3380 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Cachexia, Obesity, High palate, Decreased testicular size |
ORPHA:85293 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, D... |
OMIM:300972 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Nausea, Abdominal pain, Intestinal perforation, L... |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy... |
ORPHA:653 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Open mouth, Chronic diarrhea |
OMIM:616355 |
Chops Syndrome |
|
Gastroparesis, Splenomegaly, High, narrow palate, Cryptorchidism, Downturned corners of mouth, Ga... |
OMIM:616368 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Immunodeficiency 56 |
|
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Chronic diarrhea, Panhypogammagl... |
OMIM:615207 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Codas Syndrome |
|
Delayed eruption of teeth, Extrahepatic biliary duct atresia, Abnormal dental morphology, Abnorma... |
ORPHA:1458 |
Sandhoff Disease |
|
Hepatomegaly, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Neutropenia in presence of a... |
ORPHA:525731 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight ... |
ORPHA:905 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Lymphadenopathy |
ORPHA:411703 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... |
ORPHA:97282 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Narrow mouth, Duodenal atresia, Decreased response to growth hormone stimulation test, Micrognathia |
OMIM:614114 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Cleft lip, Abnormal mesentery morphology, Malrotatio... |
ORPHA:2953 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Cleft palate,... |
OMIM:607812 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... |
ORPHA:424016 |
Infantile Krabbe Disease |
|
Failure to thrive, Gastroesophageal reflux, Cachexia |
ORPHA:206436 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge... |
ORPHA:2886 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Feeding difficulties in i... |
ORPHA:90322 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia |
ORPHA:300605 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft |
ORPHA:139466 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Hematemesis, Thro... |
ORPHA:906 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Dental crowding, Intestinal malrotation, ... |
OMIM:300373 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
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, Thick vermilion... |
OMIM:615866 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis,... |
ORPHA:2331 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Aganglionic megacolon, Micrognathi... |
ORPHA:818 |
Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Leukopenia, Increased circulating IgG level, Cholecystitis, Hepatomegaly, Neutrophilia,... |
ORPHA:99827 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti... |
ORPHA:100050 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... |
ORPHA:679 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Diarrhea, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology |
ORPHA:449280 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi... |
ORPHA:36426 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Aplas... |
OMIM:617088 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Relapsing Fever |
|
Neutrophilia, Abdominal pain, Leukocytosis, Jaundice, Diarrhea, Anemia, Leukopenia, Vomiting, Thr... |
ORPHA:91547 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop... |
OMIM:305100 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Thick lower lip vermil... |
OMIM:162300 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Gastroparesis, Feedi... |
ORPHA:79329 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas... |
ORPHA:502 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Irida Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology |
ORPHA:209981 |
Rat-Bite Fever |
|
Lymphadenitis, Diarrhea, Anemia, Vomiting, Pancreatitis, Parotitis |
ORPHA:31205 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate, Micrognathia |
OMIM:620310 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... |
ORPHA:99818 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Abdominal pain, Diarrhea, Functional abnormality of the gastrointestina... |
ORPHA:357001 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatosplenomegaly |
ORPHA:313855 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Acut... |
ORPHA:3474 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Functional intestinal ... |
ORPHA:199276 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Impaired platelet a... |
OMIM:618372 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Dental crowding, Abnormal cortical gyration, Cleft upper lip... |
OMIM:219000 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ... |
ORPHA:1507 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... |
OMIM:131100 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Protr... |
ORPHA:99843 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F... |
ORPHA:37 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypertriglyceridemia, Diarrhea, Hyperlipidemia, Hepatic fibrosis, Vomiting, Hepatoc... |
ORPHA:247585 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Periventricular heterotopia, Pachygyria, Cryptorchidism, Simplified gyral patt... |
ORPHA:468631 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Tarp Syndrome |
|
Meckel diverticulum, Micrognathia, Cleft palate, Glossoptosis, High palate, Hepatic failure, Neon... |
OMIM:311900 |
Hyaline Fibromatosis Syndrome |
|
Gingival fibromatosis, Diarrhea, Gingival overgrowth |
OMIM:228600 |
Addison Disease |
|
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Hypoparathyroidism,... |
ORPHA:85138 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Increased circulating IgM level, Dysphagia |
ORPHA:99824 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:129900 |
Classic Galactosemia |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Diarrhea, Feeding diff... |
ORPHA:79239 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum |
OMIM:190351 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Esophageal diverticulum, Clef... |
OMIM:617925 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor... |
OMIM:613673 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Narrow mouth, Paraproteinemia, Gastro... |
ORPHA:167635 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho... |
OMIM:604292 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Sinusitis, Abdominal pain, Peritonitis, Diarrhe... |
ORPHA:727 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... |
OMIM:613027 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Narrow mouth, Cryptorchidism, Abnormal mandible morphology, Cleft palate... |
ORPHA:2215 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyr... |
OMIM:620186 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hypertriglyceridemia, Poor appetite, Jaundice, Diarrhe... |
ORPHA:247598 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Micrognathia, Cryptorchidism, Feeding difficulties, Gastroesophageal r... |
ORPHA:85201 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Cr... |
OMIM:234100 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Feeding difficulties |
OMIM:617105 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Reticulocytosis, Anorexia, Nausea, Abdominal pain, Orc... |
ORPHA:99826 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... |
ORPHA:1018 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Micrognathia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duoden... |
ORPHA:391641 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of the liver, Cirrhosis |
ORPHA:90003 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Abnormality of the dentit... |
ORPHA:90321 |
Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Thick vermilion borde... |
ORPHA:46627 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... |
ORPHA:729 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu... |
OMIM:301043 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Hypoplasia of the premaxilla, Decreased response to growth hormone st... |
OMIM:610829 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Nausea and vomiting, Abnormal dental enamel morphology, Downturned cor... |
ORPHA:2107 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... |
ORPHA:276152 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Intestinal obstruction, Malabsorption, Chronic diarrhea, Triangu... |
OMIM:601675 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow palate, Anteriorly plac... |
OMIM:123790 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Craniofacial hyperostosis, Adenoiditis, Abnormality of the dentition, Splenomegaly,... |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Hypoplastic facia... |
OMIM:616300 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh... |
ORPHA:324636 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Hurler Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feeding difficulties, M... |
ORPHA:93473 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, D... |
OMIM:620370 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomitin... |
ORPHA:927 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... |
ORPHA:464321 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Fulminant hepatitis, Odynophagia, Diarrhea, Leukopenia, Vomiting, Abdominal cramps,... |
ORPHA:319213 |
Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Nausea, Poor appetite, Dysphagia |
ORPHA:352447 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Feeding difficulties in infancy, Diarrhea, Lipid accumulation in hepatocytes, Hepat... |
OMIM:608836 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Anorexia, Carious teeth, Splenomegaly, Feeding difficult... |
ORPHA:1328 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Cryptorch... |
OMIM:101200 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Anemia, Leukopenia... |
OMIM:222700 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hypereosinophilia, Weight loss |
ORPHA:449400 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Hypoplasia of the phar... |
OMIM:154500 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Chronic diarrhea, Decreased... |
OMIM:618131 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism, Supernumerar... |
ORPHA:353281 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Pancreatitis... |
ORPHA:449427 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate |
OMIM:617337 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Diarrhea, Vomiting, Decreased liver function, Cirrhosis |
OMIM:230400 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Diarrhea, Anemia |
ORPHA:1842 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Necrotizing Enterocolitis |
|
Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Neutropenia... |
ORPHA:391673 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Feeding difficulties in infancy, Lower lip pit, Dental malocclusion, C... |
OMIM:300867 |
Diarrhea 13 |
|
Hepatic steatosis, Secretory diarrhea, Vomiting |
OMIM:620357 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M... |
OMIM:618278 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:3220 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elev... |
ORPHA:97287 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... |
OMIM:275350 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Decreased response to growth hormone stimulation test, Narrow mouth |
ORPHA:436174 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Micrognathia, Pancreatic cysts, Leukocytosis, Cleft palate, Hepatosplenomegaly, Ane... |
OMIM:274000 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Immunodeficiency 77 |
|
Recurrent tonsillitis, Gastroparesis, Cutaneous abscess |
OMIM:619223 |
Biotinidase Deficiency |
|
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting |
OMIM:253260 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Anemia, Weight loss |
ORPHA:3287 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infection of the gastroin... |
ORPHA:51890 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Agenesis of maxillary lateral incisor, Decreased circula... |
OMIM:210900 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Feeding difficulties in infancy, Chronic diarrhea, Downturned corners o... |
ORPHA:3164 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Codas Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Gastroesophageal reflux, Rectovaginal fistula, Enamel ... |
OMIM:600373 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... |
ORPHA:400 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Oral ulcer, Abdominal pain |
OMIM:617321 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growt... |
ORPHA:1855 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... |
ORPHA:99889 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick vermilion border, Malar flattening |
ORPHA:86818 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long p... |
ORPHA:444072 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Micrognathia, Feeding difficulties in infancy, Cleft lip, Cryptorc... |
ORPHA:2745 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting, Pachygyria |
OMIM:248360 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Oligo... |
OMIM:308300 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Cirrhosis, Hepa... |
ORPHA:465508 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Decreased response to growth hormone stimulation test, Pyloric stenosis, Super... |
ORPHA:268261 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Brucellosis |
|
Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Increased circulating IgG level, V... |
ORPHA:1304 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... |
OMIM:259775 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Cryptorchidism |
OMIM:616202 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Iniencephaly |
|
Orofacial cleft, Lissencephaly, Narrow mouth, Mandibular aplasia, Anal atresia, Duodenal atresia |
ORPHA:63259 |
Cockayne Syndrome |
|
Hepatomegaly, Severe short stature, Cachexia, Postnatal growth retardation, Cryptorchidism, Splen... |
ORPHA:191 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Micrognathia, Abnormality of the ... |
ORPHA:798 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... |
ORPHA:171 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Malabsorption |
ORPHA:289176 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Feeding difficulties in infancy, Cryptorchidism, Wide mouth, Duodenal a... |
OMIM:618846 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Decreased response to grow... |
OMIM:146510 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Periventricular heterotopia, C... |
OMIM:615948 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short hard palate, Short stature |
ORPHA:1969 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, Weight loss, Ch... |
ORPHA:171876 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Cryptorchidism, ... |
OMIM:619005 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Anemia, Weight loss |
ORPHA:324964 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden... |
ORPHA:667 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Micrognathia, Intrahepatic cholestasis, Pierre-Robin sequence, Chronic diarrhea, He... |
OMIM:614921 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Abnormality of neuronal migration, Feeding difficulties, Posterior pituitary hypo... |
ORPHA:464311 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Melas |
|
Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Recurr... |
ORPHA:550 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Cleft upper lip, Micrognathia, Cryptorchidism, Malrotation of small bowel, Bili... |
OMIM:194190 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Spleno... |
ORPHA:117 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
Charge Syndrome |
|
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Microgn... |
OMIM:214800 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Cleft lip, Thick lower lip vermilion, Cleft palate, Acut... |
OMIM:280000 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Abdominal pain, Diarrhea, Decreased circulating total IgM, Recurrent... |
ORPHA:420741 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest... |
ORPHA:352665 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, M... |
ORPHA:93 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi... |
ORPHA:79500 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:989 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed eruption of teeth, Carious teeth, Protuberant abdomen, Secondary hyperparathyroidism, Ena... |
OMIM:277440 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Intermittent di... |
ORPHA:330001 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Vomiting, Decreased carnitine level in ... |
OMIM:212140 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Cryptorch... |
ORPHA:950 |
Dystonia-Deafness Syndrome 1 |
|
Cleft upper lip, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia |
OMIM:607371 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Feeding difficulties in infancy, Trismus, Supernumerary tooth, Dental ... |
ORPHA:800 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Diarrhea... |
OMIM:307200 |
Avian Influenza |
|
Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Feeding difficulties, Gastroesop... |
ORPHA:464306 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Ch... |
ORPHA:457279 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth... |
ORPHA:1071 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Neutropenia... |
ORPHA:537 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Listeriosis |
|
Brain abscess, Liver abscess, Abscess, Abdominal pain, Jaundice, Peritonitis, Abnormal cellular i... |
ORPHA:533 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Gm1 Gangliosidosis |
|
Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Gastroesophageal refl... |
ORPHA:354 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Cryptor... |
ORPHA:289 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Feeding diff... |
OMIM:600987 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Diarrhea, Feeding difficulties, Transient hyperlipidemia, Hepatic steatosis |
OMIM:255120 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Adnp Syndrome |
|
Thin upper lip vermilion, Oral-pharyngeal dysphagia, Cryptorchidism, Thick lower lip vermilion, C... |
ORPHA:404448 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia |
ORPHA:2959 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Nasogastric tu... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Nasogastric tu... |
ORPHA:353277 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weig... |
ORPHA:99867 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin... |
ORPHA:3107 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Wide mouth, Anter... |
ORPHA:1708 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Thin vermilion border, Constipation, Ap... |
ORPHA:264450 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Ovaria... |
OMIM:269880 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Diarrhea, Abdominal pain |
ORPHA:188 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Gastroesophageal reflux, Gastroparesis, Constipation |
OMIM:610131 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypop... |
OMIM:264090 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e... |
ORPHA:666 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Hypoplasminogenemia |
|
Duodenal ulcer, Gingival overgrowth, Gingivitis, Periodontitis, Abnormality of the ovary |
ORPHA:722 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Hypogeusia, Gastroesophageal reflux, Constipation, Vom... |
OMIM:223900 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, S... |
ORPHA:1465 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Achalasia, Orofacial cleft, Dysphagia |
ORPHA:79107 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Abscess, Nausea, Abdominal pain, Peritonitis, Diarrhea, Increased circulating myelocyt... |
ORPHA:36234 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia |
OMIM:610965 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology |
ORPHA:2238 |
Ivic Syndrome |
|
Intestinal malrotation, Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Anal atresia |
OMIM:147750 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Cryp... |
ORPHA:83617 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia |
OMIM:616457 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue, Melena |
OMIM:158310 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Splenic inf... |
OMIM:603903 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Chronic diarrhea, Lymphadenopa... |
ORPHA:333 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... |
OMIM:300908 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Gingival ... |
ORPHA:769 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia |
ORPHA:73272 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia |
ORPHA:3239 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Feeding difficulties in infancy, Deep philtrum, High palate, Open mout... |
ORPHA:1675 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Micrognathia, Periventricular heterotopia, Cryptorchidi... |
OMIM:606170 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Chronic diarrhea, Chronic decreased circulating IgG1, Wide mouth, Widely s... |
OMIM:300953 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... |
OMIM:617063 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth |
OMIM:113000 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... |
OMIM:216400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Leukocytosis, Jaundice, ... |
ORPHA:20 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,... |
ORPHA:288 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Diarrhea, Feeding difficulties, Constipation, High palate, Narrow mouth... |
OMIM:618050 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anterior pituitary hypoplasia, Micrognathia, Cry... |
OMIM:619841 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition |
OMIM:605822 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:767 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cryptorchidis... |
OMIM:601776 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Feeding difficulties, Downturned corners of mouth, Short philtrum, Dysphagia... |
OMIM:615510 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Eosinophilia, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:183 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, ... |
OMIM:256810 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop... |
ORPHA:464 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dys... |
ORPHA:2131 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni... |
OMIM:135900 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Hyperlipidemia, Abdominal pain |
ORPHA:31825 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Reni Syndrome |
|
Lymphopenia |
OMIM:617575 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Ivic Syndrome |
|
Anal atresia, Leukocytosis, Rectovaginal fistula, Thrombocytopenia |
ORPHA:2307 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612462 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Focal polymicrogyria, Cryptorch... |
OMIM:612651 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Micrognathia, Aplasia/Hypoplas... |
ORPHA:84 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:103580 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:2067 |
Zttk Syndrome |
|
Absent gallbladder, Abnormality of the dentition, Hypoplasia of the maxilla, Feeding difficulties... |
OMIM:617140 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Hydrocele testis, Long phil... |
OMIM:145420 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Vomiting, Thrombocytosis |
ORPHA:134 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Fabry Disease |
|
Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Hyperlipidemia, Thick lower lip ver... |
ORPHA:324 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia |
ORPHA:399 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Su... |
OMIM:312870 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Narrow mouth, High palate, Small, conical teeth |
ORPHA:2962 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypoplastic sweat glands, Hypodontia |
OMIM:601345 |
3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal dental morphology, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Gingival overgrowth... |
ORPHA:217085 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac disease, Cryptorch... |
ORPHA:2044 |
Triple A Syndrome |
|
Achalasia, Anterior hypopituitarism |
ORPHA:869 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Perive... |
ORPHA:434179 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic... |
OMIM:180700 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Micrognathia |
OMIM:616901 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia |
ORPHA:2484 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... |
OMIM:133540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Gastrointestinal hemorrhage, Branchial cyst, Ectopic... |
ORPHA:508488 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal dental morphology, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Gingival overgrowth... |
ORPHA:217093 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:199 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss |
ORPHA:2126 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilobate gallbladder, Bilateral cleft lip, Clef... |
OMIM:261540 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Weig... |
OMIM:619487 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Weight loss |
ORPHA:732 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, Eosinophilia, A... |
ORPHA:284 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Leukocytosis, Downturned corners of mouth, Hypoplasia ... |
OMIM:619321 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Diarrhea, Vomiting |
OMIM:560000 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Cryptorchidism, Dental malocclusion,... |
ORPHA:97360 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate |
ORPHA:158687 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Oral mucosal blisters, Intestinal perforation, Diarrhea, Abd... |
ORPHA:95455 |
Ogden Syndrome |
|
Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anemia, Short phil... |
OMIM:300855 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Enamel hypomineralization, Vomiting, Malabsorption |
ORPHA:47159 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Abdominal pain, Hematemesis, Jaundice, Leukocytosis, Pancreatic... |
ORPHA:99829 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno... |
ORPHA:3353 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia |
OMIM:301500 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Protuberant abdomen, Hepatocellular carcinoma, Intermi... |
OMIM:232200 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Pseudobulbar paralysis, Xanthelasma, Diarrhea |
OMIM:213700 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Cryptorchidi... |
OMIM:268310 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Secretory diarrhea, Vomiting |
OMIM:616069 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti... |
ORPHA:289390 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Thr... |
OMIM:235400 |
Down Syndrome |
|
Anal atresia, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Myelopro... |
OMIM:190685 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Diarrhea, Pancreatic islet-cell hyperplasia, Vomiting, Increased hepatic glycogen c... |
ORPHA:263455 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esop... |
ORPHA:99921 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:178029 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Protuberant abdomen, Long philtrum, Malar flattening |
ORPHA:50945 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia |
ORPHA:3240 |
Proximal Spinal Muscular Atrophy |
|
Gastroparesis, Constipation, Gastroesophageal reflux, Tongue fasciculations, Dysphagia, Poor suck |
ORPHA:70 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Cryptorchidi... |
ORPHA:568 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen |
ORPHA:289157 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Gastrointestinal infarctions, Glossitis, Weight loss |
ORPHA:397 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Diamond-Blackfan Anemia 21 |
|
Micrognathia, Erythroid hypoplasia, Chronic diarrhea, Anemia, Narrow mouth, Thrombocytopenia |
OMIM:620072 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdomin... |
OMIM:235730 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss |
ORPHA:3208 |
Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Intestinal pseudo-obstruction, Hypercholesterolemia, Decreased respon... |
ORPHA:273 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent... |
OMIM:101800 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Cryptorchidism, Supernumerary tooth, Sub... |
OMIM:300166 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia |
ORPHA:247353 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Temporomandibular joint ankylosis, Enlarged tonsils... |
ORPHA:580 |
Chikungunya |
|
Cervical lymphadenopathy, Diarrhea, Lymphadenopathy, Vomiting, Gingival bleeding |
ORPHA:324625 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Episodic vomiting, Vomiting, Diarrhea |
OMIM:618321 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Stillbirth, Toot... |
OMIM:309350 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Hiatus ... |
OMIM:305600 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Increased circulating free fatty acid level, Feeding difficulties in infan... |
ORPHA:71212 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
Reactive Arthritis |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain |
ORPHA:29207 |
Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Leukocytosis, Diarrhea, Melena, Anemia, Vomiting, Nausea, Thrombocyt... |
ORPHA:340 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Increased circulating IgG level, High palat... |
OMIM:619472 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Hyperaldosteronism, Vomiting |
OMIM:264350 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Severe periodontitis, Abnormality of the dentition, Perianal a... |
ORPHA:2968 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... |
OMIM:225500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Feeding difficulties, Anemia, Dysphagia |
OMIM:620358 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis |
OMIM:301220 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Anemia, Abdominal pain |
OMIM:256700 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Feeding difficulties... |
ORPHA:138 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
Japanese Encephalitis |
|
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Incr... |
ORPHA:79139 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Deep philtrum, Achalasia, Dysphagia |
ORPHA:289483 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te... |
ORPHA:94089 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Shprintzen Omphalocele Syndrome |
|
Hypoplasia of the pharynx, Thin vermilion border, Anal atresia |
OMIM:182210 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Neutropenia, Malabsorption |
ORPHA:79430 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... |
ORPHA:143 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Congenital hypoparathyroidism, Calvarial osteosclero... |
ORPHA:93325 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... |
OMIM:601812 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Orofacial cleft, ... |
ORPHA:77301 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Aspartylglucosaminuria |
|
Hepatomegaly, Diarrhea, Thick lower lip vermilion, Vacuolated lymphocytes, Hypoplastic frontal si... |
OMIM:208400 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples |
ORPHA:1231 |
Marfan Syndrome |
|
High, narrow palate, Cachexia, Slender build, Cleft palate |
ORPHA:558 |
Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Wei... |
ORPHA:781 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes... |
ORPHA:500055 |
Prader-Willi Syndrome |
|
Gastroparesis, Decreased response to growth hormone stimulation test, Abnormality of the dentitio... |
ORPHA:739 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Thin ... |
OMIM:616007 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Narrow mouth, Thick lower lip vermilion, Mesiodens, Constipation, Lon... |
ORPHA:314647 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia |
OMIM:609033 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Intrauterine grow... |
ORPHA:251071 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia |
OMIM:221350 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hepatic steatosis |
ORPHA:348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Feeding difficulties, Esophagitis, Achalasia, Hepatic steatosis |
OMIM:615356 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Narrow mouth, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomit... |
OMIM:606721 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia |
ORPHA:90024 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Polymicrogyria |
OMIM:619708 |
Fatal Familial Insomnia |
|
Weight loss, Dysphagia |
OMIM:600072 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea |
OMIM:601979 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Colchicine Poisoning |
|
Leukocytosis, Vomiting, Nausea, Diarrhea |
ORPHA:31824 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting, Constipation, C... |
ORPHA:469 |
Occipital Horn Syndrome |
|
Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Dysphagia, G... |
ORPHA:198 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Hyperaldosteronism, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Mediastinal lymphadenopathy, Weight loss |
ORPHA:79128 |
Restrictive Dermopathy |
|
Natal tooth, Micrognathia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard ... |
ORPHA:1662 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Weight l... |
ORPHA:91139 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Hyperaldosteronism, Vomiting, Feeding difficulties |
OMIM:177735 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia |
OMIM:259600 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te... |
ORPHA:79444 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Cachexia |
ORPHA:75565 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Perianal dermatitis, Bloody diarrhea, Recurrent gastroenteritis |
ORPHA:294023 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest... |
ORPHA:361 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea |
OMIM:619484 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Goiter |
OMIM:231690 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal... |
ORPHA:95409 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
Poems Syndrome |
|
Weight loss, Lymphadenopathy, Thrombocytosis, Polycythemia, Increased circulating prolactin conce... |
ORPHA:2905 |
Leptospirosis |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Jaundice, Diarrhea, Hepatitis, Lymph... |
ORPHA:509 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te... |
ORPHA:79443 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:275000 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Weight loss, Pancreatitis, Anemia |
ORPHA:370348 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of permanent teeth, Short phi... |
ORPHA:521445 |
Cocaine Intoxication |
|
Abdominal pain, Intestinal perforation, Bloody diarrhea, Gastrointestinal infarctions, Colitis, V... |
ORPHA:90068 |
Glossopharyngeal Neuralgia |
|
Odynophagia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Exocrine pancreatic insufficiency, Biliary atresia, Feeding difficulties,... |
ORPHA:2255 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Sotos Syndrome |
|
Aganglionic megacolon, Abnormality of the dentition, No permanent dentition, Cryptorchidism, Feed... |
ORPHA:821 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Anemia |
ORPHA:230 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, Hepatocellular necr... |
ORPHA:90062 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Absent gallbladder, Gastroparesis, Hypoplasia of the maxilla, Fe... |
ORPHA:500150 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul... |
OMIM:209880 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py... |
OMIM:309800 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gastroparesis, Abnormality of the liver, Constipation, Gastroesophageal reflux, Dysphagia, Goiter |
ORPHA:254892 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Cryptorchidism, Tracheoesophageal fistula, Gastroesophageal... |
OMIM:107480 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Hypertriglyceridemia, Decreased response to growth hormone... |
ORPHA:3455 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia |
OMIM:607459 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Abnormal pro... |
ORPHA:3385 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Short dental root, Hypoplasia of the nasal bone,... |
ORPHA:93357 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Mucolipidosis Type Ii |
|
Short stature, Postnatal growth retardation, Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegal... |
OMIM:219800 |
Isotretinoin-Like Syndrome |
|
Lymphopenia |
ORPHA:2306 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Long ph... |
OMIM:278250 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia |
OMIM:143095 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Small, conical teeth, Smoo... |
ORPHA:2834 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Cryptorchidism, Po... |
OMIM:601803 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... |
OMIM:619482 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Gastroparesis, Cryptorchidism, Long philtrum, Neonatal death |
OMIM:614052 |
Blue Diaper Syndrome |
|
Diarrhea |
ORPHA:94086 |
Acute Transverse Myelitis |
|
Paralytic ileus, Constipation, Abscess, Gastroparesis |
ORPHA:139417 |
Occipital Horn Syndrome |
|
Hiatus hernia, Chronic diarrhea, High palate, Long philtrum |
OMIM:304150 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Restrictive Dermopathy 1 |
|
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Stillb... |
OMIM:275210 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Decreased testicular size, Hypopituitarism, Thyroid hypoplasia, A... |
ORPHA:672 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Vomiting, Increased circulating free fatty acid level |
OMIM:610768 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Granulomatosis, Pancreatitis |
ORPHA:900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Gastroparesis, Dysphagia |
OMIM:157640 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting |
ORPHA:18 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula |
ORPHA:90349 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Delayed eruption of primary teeth |
OMIM:300952 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Parathyroid adenoma, Iro... |
ORPHA:358 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Thin upper lip vermilion, Gastroparesis, Decreased response to growth hormone stimulation test, A... |
ORPHA:177901 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Decreased circulating cortisol level |
OMIM:231550 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Pyomyositis |
|
Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Reduced p... |
ORPHA:99885 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Autosomal Dominant Cutis Laxa |
|
Feeding difficulties, Vomiting, Small bowel diverticula |
ORPHA:90348 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition |
ORPHA:2036 |
Specc1L-Related Hypertelorism Syndrome |
|
Cryptorchidism, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtru... |
ORPHA:1519 |
Short Syndrome |
|
Severe short stature, Weight loss |
ORPHA:3163 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Dysphagia |
ORPHA:411602 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty |
ORPHA:649 |
Postinfectious Vasculitis |
|
Viral hepatitis, Orchitis, Weight loss, Gastrointestinal inflammation, Unusual gastrointestinal i... |
ORPHA:48435 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Polymicrogyria, Gastroparesis, Bowel incontinence |
OMIM:618877 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Weight loss, Dysphagia |
ORPHA:93672 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties |
ORPHA:427 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Premature loss of teeth, Chronic diarrhea, Prolonged neonatal jaundice |
ORPHA:909 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:276621 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Cardiospondylocarpofacial Syndrome |
|
Gastroparesis, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Long philtrum, Decrease... |
OMIM:157800 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enzyme level,... |
ORPHA:2388 |
Scorpion Envenomation |
|
Acute pancreatitis, Vomiting, Diarrhea, Abdominal pain |
ORPHA:466677 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss |
ORPHA:1501 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Normocytic anemia, Weight loss |
ORPHA:49041 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Anemia, Weight loss |
ORPHA:35687 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Dysphagia |
OMIM:164310 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Thyroid hyperplasia |
ORPHA:99819 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive, High palate, Dysphagia |
ORPHA:2020 |
Nocardiosis |
|
Lymphadenitis, Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma |
ORPHA:29072 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Achalasia |
ORPHA:91416 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Diarrhea, Hyperaldosteronism, Constipation, Vomiting |
OMIM:601678 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:91347 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Bartter Syndrome, Type 2, Antenatal |
|
Diarrhea, Hyperaldosteronism, Constipation, Vomiting, Impaired platelet aggregation |
OMIM:241200 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Short stature, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased testicula... |
ORPHA:90794 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss |
ORPHA:91500 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |