| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... |
OMIM:618261 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, ... |
OMIM:619398 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... |
OMIM:617006 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... |
OMIM:301082 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hepatic failur... |
ORPHA:158057 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... |
OMIM:616050 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... |
OMIM:615767 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... |
OMIM:300400 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... |
OMIM:223100 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... |
OMIM:618394 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Gastroesophageal reflux, Recurrent otitis media, Lymphopenia, Complete or near-complete absence o... |
OMIM:615401 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... |
ORPHA:540 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... |
ORPHA:209964 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Trehalase Deficiency |
|
Abdominal pain, Diarrhea |
OMIM:612119 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci... |
OMIM:604416 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... |
OMIM:618987 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... |
OMIM:243150 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... |
OMIM:615190 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Recurrent oti... |
OMIM:600802 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Hypokalemia, M... |
OMIM:174900 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor... |
OMIM:242860 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemolytic anemia, Punctat... |
OMIM:617388 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre... |
ORPHA:2869 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l... |
OMIM:619164 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea |
OMIM:614102 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... |
OMIM:614878 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Elevated c... |
ORPHA:90038 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
| Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Rectovaginal f... |
ORPHA:35078 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa... |
ORPHA:35122 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Protracted diarrhe... |
OMIM:209920 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... |
ORPHA:3243 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| 5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... |
ORPHA:85410 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis |
ORPHA:88643 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... |
OMIM:620045 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... |
OMIM:612692 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... |
OMIM:301220 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive, Increased... |
ORPHA:277 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... |
OMIM:601457 |
| Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
| Immunodeficiency 104 |
|
Pneumonia, Gastroesophageal reflux, Diarrhea, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy, Failure to thrive |
OMIM:618168 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l... |
ORPHA:79076 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent isohemagglutinin ... |
OMIM:613501 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata... |
OMIM:152800 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... |
OMIM:613217 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, L... |
OMIM:618495 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... |
OMIM:606528 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Hirschsprung Disease |
|
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... |
ORPHA:388 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Iron deficiency anemia, Thrombocytopenia, Rectal prolapse, Intussu... |
OMIM:112200 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar... |
ORPHA:411593 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... |
ORPHA:85435 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Diarrhea,... |
ORPHA:79124 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Failure to thrive |
OMIM:610370 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... |
ORPHA:26790 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly, Cataract |
ORPHA:79238 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Villous atrophy |
OMIM:615863 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,... |
OMIM:618131 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Increased cir... |
OMIM:620514 |
| Acute Lung Injury |
|
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Gastroesophageal reflux, Decreased circulating total IgG, Diar... |
ORPHA:221139 |
| Reticular Dysgenesis |
|
Diarrhea, Failure to thrive, Malabsorption, Skin rash, Weight loss, Decreased circulating antibod... |
ORPHA:33355 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:770 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Gastrointestinal hemorrh... |
ORPHA:2137 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chro... |
ORPHA:391487 |
| Sepsis In Premature Infants |
|
Diarrhea, Increased circulating interleukin 6 concentration, Abdominal distention, Vomiting, Decr... |
ORPHA:90051 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... |
OMIM:616809 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... |
ORPHA:169154 |
| Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia |
ORPHA:101009 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruc... |
ORPHA:67 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Ab... |
ORPHA:95427 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... |
OMIM:614602 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... |
ORPHA:79301 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties |
OMIM:619793 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:240500 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... |
OMIM:618213 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Neoplasm of the pancreas, Ovari... |
OMIM:175200 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co... |
ORPHA:544482 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Decreased c... |
OMIM:616100 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Immunodeficiency 46 |
|
Failure to thrive, Decreased circulating antibody level, Conjunctivitis, Chronic diarrhea, Chroni... |
OMIM:616740 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Failure to thrive |
OMIM:614265 |
| Immunodeficiency 27A |
|
Pneumonia, Diarrhea, Rheumatoid factor positive, Increased inflammatory response, Weight loss, Sa... |
OMIM:209950 |
| Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption |
OMIM:613291 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... |
ORPHA:411696 |
| Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating C-reactive pro... |
OMIM:620376 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... |
ORPHA:251992 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... |
OMIM:620532 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Furrowed tongue, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Melena... |
OMIM:158310 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... |
OMIM:301000 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... |
ORPHA:542323 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Cryptorchid... |
OMIM:235510 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... |
ORPHA:911 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Chronic diarrhea |
OMIM:269840 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... |
ORPHA:810 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... |
OMIM:619705 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Osteoporosis, Osteolysis |
ORPHA:100024 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... |
OMIM:616069 |
| Alpha-Heavy Chain Disease |
|
Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren... |
OMIM:601495 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... |
OMIM:612782 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Tarsal sclerosis, Micronodular cirrhosis, Sclerosis of... |
ORPHA:404454 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... |
OMIM:615237 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... |
ORPHA:99867 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Anal fi... |
OMIM:618935 |
| Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Lymphadenopathy, Corneal opacity, Hepatomegaly |
ORPHA:79292 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to ... |
ORPHA:169160 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... |
OMIM:608233 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... |
OMIM:614328 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... |
ORPHA:2198 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Weight loss,... |
ORPHA:90003 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... |
OMIM:121300 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto... |
OMIM:176920 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:796 |
| Aicardi-Goutieres Syndrome 5 |
|
Feeding difficulties in infancy, Increased circulating interferon-gamma concentration, Chilblains... |
OMIM:612952 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density |
ORPHA:172 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... |
OMIM:615285 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Increased circulating interleukin 10 concentration |
OMIM:613759 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Cyclic Neutropenia |
|
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, En... |
ORPHA:2686 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogamma... |
ORPHA:572 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj... |
OMIM:278730 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... |
OMIM:615207 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Decreased circ... |
OMIM:615758 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal... |
OMIM:612714 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Failure to thrive, Malabsorption, Autoimmunity, Otitis media, Skin rash, Art... |
ORPHA:229717 |
| Autosomal Agammaglobulinemia |
|
Diarrhea, Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, ... |
ORPHA:33110 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Throm... |
OMIM:603552 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
| Dubowitz Syndrome |
|
Anal stenosis, Eczematoid dermatitis, Malabsorption, Cryptorchidism, Submucous cleft hard palate,... |
ORPHA:235 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea |
OMIM:251850 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| 22Q11.2 Deletion Syndrome |
|
Cataract, Cholelithiasis, Gastrointestinal hemorrhage, Hypertensive crisis, Gastroesophageal refl... |
ORPHA:567 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties |
OMIM:612075 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Splenomegaly, Abnormality of the tonsils, Corneal opacity, Hepatomegaly |
ORPHA:93476 |
| Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... |
OMIM:246700 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... |
OMIM:208540 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly |
ORPHA:77260 |
| Gray Platelet Syndrome |
|
Epistaxis, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... |
OMIM:617718 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Cholelithiasis, Osteopenia, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis... |
OMIM:211600 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Diarrhea 13 |
|
Vomiting, Secretory diarrhea, Failure to thrive |
OMIM:620357 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Schnitzler Syndrome |
|
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased bone min... |
ORPHA:37748 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Cirrhosis... |
OMIM:613313 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentratio... |
ORPHA:90362 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... |
OMIM:614069 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... |
ORPHA:2070 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... |
OMIM:301081 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Kid Syndrome |
|
Keratitis, Delayed pubic bone ossification, Corneal neovascularization, Limbal stem cell deficien... |
ORPHA:477 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... |
ORPHA:2688 |
| Immunodeficiency 17 |
|
Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chronic decreased circulating IgG2... |
OMIM:615607 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Decreased circulating antibody level, Autoi... |
ORPHA:397596 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, Splenomegaly, Hypop... |
ORPHA:84064 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Anti-liver cyto... |
ORPHA:562639 |
| Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Autoimmunity, Sk... |
ORPHA:47 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Corneal opacity, Hepatomegaly, Osteoporosis |
ORPHA:87876 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... |
OMIM:615895 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Immunodeficiency 7 |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, C... |
OMIM:615387 |
| Wolfram Syndrome 2 |
|
Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Epistaxis, Ascites, Portal hypertension, Splenomegaly,... |
OMIM:619463 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Leukopenia, Cryptorchidism, Elevated circulating creatine kinase concentration, Feedi... |
OMIM:301056 |
| Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:620010 |
| Dracunculiasis |
|
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... |
OMIM:612840 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Hepatosplenomeg... |
OMIM:219700 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618986 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis, Diarrhea, Failure to thrive |
ORPHA:314 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Failure to thrive, Hepatitis, Increased circulating IgE level, Villous atr... |
OMIM:304790 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Nausea and vomiting, Anorexia, G... |
ORPHA:90045 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abdominal pain, Abnormal circulating interleukin concentration, Small for gestational age, Cholec... |
ORPHA:69665 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Recurrent ap... |
ORPHA:275 |
| Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia |
ORPHA:178029 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix |
ORPHA:75234 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... |
OMIM:615947 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention |
ORPHA:103910 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... |
OMIM:602390 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Recurrent pneumonia, Gastroesophageal reflux, Hypoplasia of the thymus, Rectal ... |
OMIM:613177 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis |
ORPHA:363558 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Osteopenia, Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
| Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly... |
ORPHA:2414 |
| Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... |
OMIM:614379 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... |
OMIM:269920 |
| Folate Malabsorption, Hereditary |
|
Malabsorption, Feeding difficulties in infancy, Diarrhea, Failure to thrive |
OMIM:229050 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Mal... |
ORPHA:92050 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... |
OMIM:201475 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic failure, Villous atrophy, Hyperlipidemia, Splenomegaly, Biliary hyperplas... |
ORPHA:567983 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Increased circula... |
ORPHA:319218 |
| Cog7-Cdg |
|
Feeding difficulties, Diarrhea, Small for gestational age, Failure to thrive |
ORPHA:79333 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... |
OMIM:603041 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice |
OMIM:619868 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
| Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation |
ORPHA:85447 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Abs... |
ORPHA:210122 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Cronkhite-Canada Syndrome |
|
Cataract, Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... |
ORPHA:2930 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Cachexia, Weight loss, Gastrointestinal dysm... |
ORPHA:298 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:105200 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Dysphagia, Failure to thrive, Constipation |
ORPHA:309162 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... |
ORPHA:35710 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Splenomegaly, Cirrhosis, Acholic stools,... |
OMIM:607765 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... |
OMIM:619971 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia |
OMIM:615085 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, High palate, Neonatal death, Thrombocytope... |
ORPHA:85212 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Failure to thrive in infancy, Panniculitis, Chronic diarrhea, Skin rash, Increased circ... |
OMIM:617099 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Celiac disease, Gastrointestinal eosino... |
ORPHA:90363 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis |
OMIM:617441 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... |
OMIM:102700 |
| Alopecia Totalis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:700 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... |
ORPHA:73263 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... |
ORPHA:424016 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... |
OMIM:612783 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... |
ORPHA:131 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... |
OMIM:618282 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... |
OMIM:603553 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... |
OMIM:603909 |
| Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thrombocytopenia, Corneal o... |
ORPHA:290 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Ischemic stroke, Astigmatism, Corneal neov... |
OMIM:175780 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
| Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Ascites, Splenomegaly, Telangiectasia, Hepatomegaly, Ar... |
OMIM:235200 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:230650 |
| Alpha-Mannosidosis |
|
Cataract, Craniofacial hyperostosis, Splenomegaly, Corneal opacity, Hepatomegaly, Macroglossia, N... |
ORPHA:61 |
| Leprechaunism |
|
Megarectum, Hypokalemia, Enlarged ovaries, Abdominal distention, Rectal prolapse, Increased circu... |
ORPHA:508 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia... |
ORPHA:79477 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Neuraminidase Deficiency |
|
Cataract, Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly... |
OMIM:256550 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Elevated circulati... |
OMIM:608068 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... |
OMIM:300853 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Superficial ... |
OMIM:620632 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Lymphopenia, Decreased CD4:CD8 ratio, Pe... |
OMIM:619573 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis |
OMIM:616719 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... |
ORPHA:2470 |
| Yao Syndrome |
|
Uveitis, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss, Kera... |
OMIM:617321 |
| Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... |
OMIM:116920 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... |
OMIM:601847 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea |
ORPHA:75233 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... |
OMIM:175500 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b... |
OMIM:611490 |
| Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Xerostomia, Limbal stem cell deficiency, Cryptorchidism, Corneal neovascularization,... |
ORPHA:2363 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... |
ORPHA:98849 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... |
OMIM:314050 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties |
OMIM:613638 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Ascites, Splenomegaly, Hepatomegaly, Reduced bone mineral density |
ORPHA:834 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
| Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Autoimmunity, Constipation, Arthritis, Recurrent skin infections |
ORPHA:36397 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis, Failure to thrive |
OMIM:610247 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Osteolysis |
ORPHA:391 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Nausea and vomiting, Weight loss, Pancreatitis, Acholic stools, Abdominal pain, Chronic... |
ORPHA:65682 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Stomach can... |
ORPHA:331235 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption |
OMIM:277175 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Cholelithiasis, Uveitis, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, S... |
ORPHA:171 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly,... |
ORPHA:381 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Cra... |
OMIM:200995 |
| Boutonneuse Fever |
|
Diarrhea, Skin rash, Maculopapular exanthema, Nausea, Abdominal pain, Increased circulating IgG l... |
ORPHA:83313 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... |
ORPHA:100082 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Autoimmunity, Interstitial pneumonitis,... |
OMIM:615952 |
| Babesiosis |
|
Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hem... |
ORPHA:108 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Osteolytic defects of the ... |
OMIM:618175 |
| Interstitial Cystitis |
|
Elevated circulating C-reactive protein concentration, Urinary bladder inflammation, Abnormality ... |
ORPHA:37202 |
| American Trypanosomiasis |
|
Diarrhea, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myocarditis, Abdo... |
ORPHA:3386 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells |
OMIM:620282 |
| Harderoporphyria |
|
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal... |
OMIM:618892 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Abdominal pain, Vomiting, Pancreatitis |
OMIM:620137 |
| Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Vomiting, Diarrhea, Nausea |
ORPHA:79457 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Ulcerative colitis, Hyperlipidemia,... |
ORPHA:79259 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... |
ORPHA:100026 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Antineutrophil antibody positivity, Diarrhea, Vomiting, Systemic l... |
ORPHA:93552 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain |
OMIM:248360 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... |
OMIM:226300 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... |
OMIM:618999 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:616589 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Failure to thrive |
OMIM:231690 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... |
OMIM:239300 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... |
ORPHA:79319 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Hy... |
ORPHA:2969 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Chilblains, Intestinal inflammation, Membranoproliferative glomerulonephritis,... |
OMIM:619858 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Diarrhea, Failure to thrive, Constipation, Dysphagia, Feeding difficulties |
ORPHA:35708 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Splenomegaly, Hyperuricemia, Gout, Pancreati... |
OMIM:232220 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... |
OMIM:254450 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ... |
ORPHA:91138 |
| Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Bronchiectasis, Meconium ileus, Exocrine pancreatic insufficiency, Malab... |
ORPHA:586 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Nausea, Feeding difficulties,... |
ORPHA:927 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume |
OMIM:301108 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly, Vasculitis in the skin |
OMIM:620296 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... |
ORPHA:3260 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Nausea and vomiting, Intestinal obstruction, A... |
ORPHA:160 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Failure to thrive, Nasogastric tube feeding |
ORPHA:289504 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Vomiting, Failure to thrive, Celiac disease, Eczematoid dermatitis, Decreased circulati... |
OMIM:212750 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... |
OMIM:619708 |
| Enteric Anendocrinosis |
|
Vomiting, Diarrhea, Malabsorption |
ORPHA:83620 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Failure to thrive, Vomiting, Fasciitis... |
ORPHA:39812 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel... |
OMIM:181000 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Decreased body weight, Constipation, Abdo... |
ORPHA:589821 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... |
OMIM:194380 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Osteopenia, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension,... |
OMIM:610199 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal... |
OMIM:263200 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Autoimmunity, Nause... |
ORPHA:727 |
| Williams Syndrome |
|
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Abnormal circulating ... |
ORPHA:904 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... |
OMIM:615122 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive |
OMIM:264350 |
| Cold Agglutinin Disease |
|
Diarrhea, Nausea and vomiting, Autoimmunity |
ORPHA:56425 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... |
OMIM:228000 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Osteopenia, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypers... |
ORPHA:77259 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Diarrhea |
ORPHA:858 |
| Immunodeficiency 23 |
|
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... |
OMIM:615816 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatitis, Splenomegaly, Ducta... |
OMIM:613812 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... |
OMIM:167800 |
| Carpenter Syndrome |
|
Craniosynostosis, Abnormal cornea morphology, Cryptorchidism, Polysplenia |
ORPHA:65759 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea |
OMIM:235555 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... |
OMIM:106300 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Villous atrop... |
OMIM:602579 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Weight... |
ORPHA:100080 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Anemia |
ORPHA:935 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Pemphigus Vulgaris |
|
Autoimmunity, Feeding difficulties in infancy, Weight loss, Anti-desmoglein-1 antibody positivity... |
ORPHA:704 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... |
ORPHA:398063 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
| Tangier Disease |
|
Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, My... |
OMIM:205400 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Weight loss, Keratoconjunctivitis sicca, Ab... |
ORPHA:309031 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the... |
ORPHA:398124 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... |
OMIM:275350 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... |
OMIM:150550 |
| Scheie Syndrome |
|
Hepatomegaly, Aortic regurgitation, Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest |
ORPHA:99745 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Wilson Disease |
|
Hepatitis, Kayser-Fleischer ring, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly,... |
ORPHA:905 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic... |
OMIM:617788 |
| Lassa Fever |
|
Diarrhea, Nausea and vomiting, Conjunctivitis, Abdominal pain, Increased circulating IgM level, D... |
ORPHA:99824 |
| Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate |
OMIM:266280 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Skin rash |
ORPHA:29822 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Gastroesophageal reflux, Eczematoid dermatitis, Pseudohypoparathyroidism, High palate, Rectal pro... |
OMIM:617157 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Diarrhea, Periodontitis, Recurrent aphthous stomat... |
ORPHA:486 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate |
OMIM:601110 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... |
ORPHA:44890 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnor... |
ORPHA:464329 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties |
OMIM:177735 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... |
OMIM:230800 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia, Chr... |
OMIM:232240 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita... |
OMIM:131100 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Maculopapular... |
OMIM:142680 |
| Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption |
ORPHA:71 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic di... |
OMIM:613489 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Corneal neovascularization, Cryptorchidism, Neonatal death, Recurrent corneal erosions... |
OMIM:308205 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... |
ORPHA:90068 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... |
ORPHA:157794 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Cryptorchidism, Rectal atresia |
OMIM:613390 |
| Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop... |
ORPHA:507 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dense calvaria |
OMIM:252920 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encep... |
OMIM:307200 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, High palate |
OMIM:607906 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Esophageal ... |
OMIM:616028 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Fumarase Deficiency |
|
Hepatic failure, Polycythemia, Mitochondrial swelling, Hyperbilirubinemia, High palate, Necrotizi... |
OMIM:606812 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Abdo... |
OMIM:608104 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Cutaneous Mastocytoma |
|
Vomiting, Diarrhea, Nausea, Abdominal pain, Maculopapular exanthema |
ORPHA:79455 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Zollinge... |
ORPHA:100075 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Vomiting, Diarrhea, Failure to thrive, Feeding difficulties |
OMIM:250940 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemolytic anemia, S... |
ORPHA:809 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level... |
OMIM:613385 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... |
OMIM:612132 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... |
ORPHA:53035 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Conjunctivitis, Autoimmunity, Nausea and vomiting, Episcleritis, Skin rash, Arthritis, ... |
ORPHA:36412 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Abnor... |
ORPHA:2908 |
| Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
| Classical Ehlers-Danlos Syndrome |
|
Vomiting, Gastroesophageal reflux, Chronic constipation, Hiatus hernia, Osteoarthritis, Nausea, R... |
ORPHA:287 |
| Late-Onset Isolated Acth Deficiency |
|
Diarrhea, Failure to thrive, Celiac disease, Hepatitis, Autoimmunity, Nausea and vomiting, Hashim... |
ORPHA:199299 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism |
OMIM:145981 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelofibrosis |
OMIM:139090 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... |
ORPHA:913 |
| Pancreatoblastoma |
|
Diarrhea, Vomiting, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:677 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae |
ORPHA:3035 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Diarrhea, Weight loss, Nausea and vomiting, Failure to thrive |
ORPHA:1842 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Peritonitis, Abdominal rigidity, Ab... |
ORPHA:391673 |
| Polycythemia Vera |
|
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... |
ORPHA:729 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
| Galactosemia I |
|
Vomiting, Diarrhea, Failure to thrive, Decreased liver function |
OMIM:230400 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Crypt... |
ORPHA:564 |
| Angioedema, Hereditary, 1 |
|
Vomiting, Diarrhea, Autoimmunity, Intestinal edema, Abdominal pain |
OMIM:106100 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, High palate, Opacification of t... |
OMIM:251290 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite |
ORPHA:2221 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Increased fecal coproporphyrin 3, Nausea, Constipation, Episodic vomiting, Abdominal di... |
ORPHA:100924 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... |
OMIM:226990 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villou... |
OMIM:557000 |
| Gastrocutaneous Syndrome |
|
Hiatus hernia, Peptic ulcer |
OMIM:137270 |
| Hyper-Igd Syndrome |
|
Diarrhea, Lymphadenitis, Vomiting, Skin rash, Increased circulating IgA level, Arthritis, Chronic... |
OMIM:260920 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Hypopl... |
ORPHA:699 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nausea, Diarrhea, Dysphagia, Poor appetite |
ORPHA:352447 |
| Kaposi Sarcoma |
|
Diarrhea, Abnormality of the gastrointestinal tract, Weight loss, Skin rash |
ORPHA:33276 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Gastrointestina... |
ORPHA:285 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Gastroesophageal reflux, Recurrent otitis media, Chronic constipation, Feedi... |
OMIM:194050 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Keratitis, Failure to thrive, Autoimmunity, Episcleritis, Nausea and vomiting, Anti-thy... |
ORPHA:525731 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinop... |
OMIM:615508 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Weight loss, Anor... |
ORPHA:98850 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss, Bronchiectasis |
ORPHA:411703 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Malabsorption, Recurrent infection... |
ORPHA:83471 |
| Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... |
ORPHA:31205 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:1267 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Lacunar stroke, Developmental cataract,... |
OMIM:618440 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt... |
OMIM:620565 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation |
OMIM:133020 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Splenomegaly, Pulmonary arterial hypertension, Cornea... |
OMIM:607015 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Coffin-Lowry Syndrome |
|
Narrow palate, High palate, Rectal prolapse |
OMIM:303600 |
| Systemic Capillary Leak Syndrome |
|
Diarrhea, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis |
ORPHA:188 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Dense calvaria |
OMIM:252900 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation |
OMIM:613027 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangi... |
OMIM:606003 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... |
ORPHA:85450 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Cachexia, Diarrhea, Decreased liver function |
ORPHA:42 |
| Thrombotic Thrombocytopenic Purpura |
|
Abdominal pain, Diarrhea |
ORPHA:54057 |
| Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:602473 |
| Good Syndrome |
|
Diarrhea, Decreased circulating antibody level, Sinusitis, Recurrent skin infections, Dysphagia, ... |
ORPHA:169105 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Fatal liver fail... |
ORPHA:263501 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ... |
ORPHA:90033 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Chronic diarrhea, Pancreatitis |
OMIM:618805 |
| Alg8-Cdg |
|
Vomiting, Diarrhea, Failure to thrive, Abnormality of the gastrointestinal tract, Macroglossia, S... |
ORPHA:79325 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Elev... |
ORPHA:70591 |
| Porphyria, Acute Intermittent |
|
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma |
OMIM:176000 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
| Prolidase Deficiency |
|
Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Diffuse telangiectasia, Thrombocytopenia... |
OMIM:170100 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
| Foodborne Botulism |
|
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia |
ORPHA:228371 |
| Mucopolysaccharidosis Type 7 |
|
Hepatitis, Ascites, Epiphyseal stippling, Splenomegaly, Corneal opacity |
ORPHA:584 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... |
ORPHA:2538 |
| Paroxysmal Cold Hemoglobinuria |
|
Diarrhea, Nausea and vomiting, Autoimmune hemolytic anemia |
ORPHA:90035 |
| Mednik Syndrome |
|
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Increased circulating very long-chain fatty acid... |
OMIM:609313 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Corneal opacity |
ORPHA:585 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Duodenal ulcer |
OMIM:217090 |
| Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties |
ORPHA:79101 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Peptic ulcer, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... |
OMIM:600740 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... |
OMIM:614162 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
| Carnitine Deficiency, Systemic Primary |
|
Vomiting, Diarrhea, Failure to thrive |
OMIM:212140 |
| Mevalonic Aciduria |
|
Diarrhea, Vomiting, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Skin rash... |
OMIM:610377 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenom... |
OMIM:259720 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Vomiting, Diarrhea, Failure to thrive |
OMIM:560000 |
| Blue Diaper Syndrome |
|
Increased body weight, Diarrhea |
ORPHA:94086 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi... |
ORPHA:379 |
| Gaucher Disease, Type Iiic |
|
Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly, Opacification of the cor... |
OMIM:231005 |
| Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancrea... |
ORPHA:64744 |
| Omenn Syndrome |
|
Pneumonia, Failure to thrive, Autoimmunity, Erythroderma, Chronic diarrhea, Thyroiditis |
ORPHA:39041 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Campomelia, Cumming Type |
|
Abnormal intestine morphology, Abnormality of the pancreas, Hepatomegaly, Pancreatic cysts, Cleft... |
ORPHA:1318 |
| Gastrocutaneous Syndrome |
|
Hiatus hernia, Peptic ulcer |
ORPHA:2069 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Infectious encephalitis, Myositis,... |
ORPHA:3452 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ... |
ORPHA:169090 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Diarrhea, Small for gestational age |
ORPHA:79332 |
| Pachydermoperiostosis |
|
Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S... |
ORPHA:2796 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Cholelithiasis, Conjunctivitis, Corneal scarring, Splenomegaly, Hepatomegaly, Thrombo... |
OMIM:263700 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Pancreatitis, Tubulointerstitial nephritis, Feeding diffic... |
OMIM:251000 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Calvarial osteoscleros... |
OMIM:259700 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hepato... |
ORPHA:465508 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Ileus, Hepatic steatosis, Splenomegaly, Prolonged QT interval, Osteoporosis, Bradycar... |
OMIM:613327 |
| Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Colon cancer, Exocrine pancreatic insufficiency, Nausea and vomiti... |
ORPHA:1333 |
| Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
| Immunodeficiency 59 And Hypoglycemia |
|
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... |
OMIM:233600 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... |
ORPHA:440437 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Nephritis |
OMIM:614034 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Intractable diarrhea, Recurrent pneumonia, Failure to thrive |
OMIM:617475 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Arrhythmia, Pancr... |
ORPHA:549 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomegaly, Hepatic steatosis, ... |
ORPHA:264580 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Abnormal circulating lipid concentration, Splenomega... |
ORPHA:186 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Congestive heart failure, Hypochromic microcytic anemia, Elevated h... |
ORPHA:48818 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... |
ORPHA:707 |
| Fryns Syndrome |
|
Meckel diverticulum, Polysplenia, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, ... |
OMIM:229850 |
| Congenital Myopathy 20 |
|
High palate, Chronic diarrhea, Failure to thrive |
OMIM:620310 |
| Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
| Neuroendocrine Neoplasm Of Appendix |
|
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec... |
ORPHA:100079 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Methanol Poisoning |
|
Abdominal pain, Vomiting, Diarrhea |
ORPHA:31825 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... |
ORPHA:420741 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease... |
ORPHA:79327 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
| Ppoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... |
ORPHA:97278 |
| Classic Galactosemia |
|
Vomiting, Hepatic failure, Diarrhea, Feeding difficulties |
ORPHA:79239 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Splenomegaly, Neutrophilia, Hepatomegaly, Osteolysis |
OMIM:612852 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer |
ORPHA:3217 |
| Aa Amyloidosis |
|
Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea |
ORPHA:85445 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Erythroderma, Abdominal pain |
ORPHA:79456 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
| Common Variable Immunodeficiency |
|
Vasculitis, Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, L... |
ORPHA:1572 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... |
ORPHA:330015 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... |
OMIM:115470 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Failure to thrive |
OMIM:619484 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis |
OMIM:608654 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Autoimmunity, Antiphospholipid a... |
ORPHA:227990 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... |
ORPHA:436252 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... |
OMIM:214500 |
| Mucopolysaccharidosis Type 6 |
|
Macroglossia, Opacification of the corneal stroma, Splenomegaly |
ORPHA:583 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:618641 |
| Acrodermatitis Enteropathica |
|
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... |
ORPHA:37 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, R... |
OMIM:267010 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Microcornea, Annular pancreas, Anteriorly placed anus, Cryptorchidism, Telangiectasia, ... |
OMIM:268400 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention |
ORPHA:2290 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ... |
ORPHA:276152 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Diarrhea |
OMIM:615399 |
| Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca |
ORPHA:411777 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... |
OMIM:306400 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Skin rash, Abdominal pain |
ORPHA:99828 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... |
ORPHA:480536 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:620040 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Hypopituitarism, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged n... |
ORPHA:30391 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encepha... |
ORPHA:36234 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash |
OMIM:601979 |
| Microsporidiosis |
|
Lymphadenitis, Keratoconjunctivitis, Cachexia, Weight loss, Prostatitis, Anorexia, Abdominal pain... |
ORPHA:2552 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abdominal pain, Weight loss |
ORPHA:54251 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis |
ORPHA:449285 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... |
OMIM:212065 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... |
OMIM:607626 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... |
ORPHA:71272 |
| Familial Glucocorticoid Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Episodic abdominal pain, Weight loss, Constipation, Anorexia |
ORPHA:361 |
| Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Chronic constipation, Crohn's disease, Orchitis, Episodic abdomin... |
OMIM:249100 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Hematochezia, Diarrhea, Atopic dermatitis, Hepatitis, Chilblains, ... |
OMIM:615846 |
| Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain, Weight loss, Failure to thrive |
OMIM:256700 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Decreased body weight, Nausea, Abdominal pain, Hematemesis, Glomer... |
ORPHA:340 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... |
OMIM:256040 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Autoimmunity, Hashimoto thyroidi... |
ORPHA:227982 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Abnormal mesentery morphology, Budd-Chiari syndrome, Portal hypertension, Hepa... |
ORPHA:284 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Nausea and vomiting, Ep... |
ORPHA:99880 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cerv... |
OMIM:602782 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Cataract, Coarse metaphyseal trabecularization, Oral leukoplakia, An... |
ORPHA:1775 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Neoplasm of the pancreas, Neoplasm of the rectum, Acute myeloid leukemia, Testicu... |
ORPHA:524 |
| Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Leuko... |
ORPHA:289157 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Cataract, Microcornea, Annular pancreas, Inte... |
ORPHA:2308 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... |
ORPHA:71493 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Failure to thrive, Acute hepatic failure, Maculopapular exanthema, Membranop... |
OMIM:619644 |
| Parathyroid Carcinoma |
|
Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... |
ORPHA:143 |
| Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight... |
OMIM:619377 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... |
OMIM:270150 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Vomiting, Large for gestational age, Diarrhea |
ORPHA:263455 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Skin rash, Intestinal obstruction, Orchitis, ... |
ORPHA:32960 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Diarrhea |
ORPHA:2575 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Hy... |
OMIM:605039 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Myocarditis, Ge... |
ORPHA:829 |
| Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
| Grfoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... |
ORPHA:97261 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Failure to thrive |
OMIM:610768 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Malnutrition, N... |
ORPHA:275761 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... |
ORPHA:97280 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Mitral regurgitation, ... |
OMIM:612541 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Ileus, Splenomegaly, Heterochromia iridis, Aganglionic megacolon, Arrhythmia, Hepatom... |
ORPHA:163746 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Annular pancreas, Right-to-left shunt, Duodenal atresia, Me... |
OMIM:265380 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Episodic abdominal pain, Neoplasm of the liver, Weight loss, Anor... |
ORPHA:100085 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... |
ORPHA:97283 |
| Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Bowel inconti... |
ORPHA:330001 |
| Carcinoid Syndrome |
|
Lack of bowel sounds, Protracted diarrhea, Nausea and vomiting, Episodic abdominal pain, Intestin... |
ORPHA:100093 |
| Familial Mediterranean Fever |
|
Diarrhea, Erysipelas, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Mala... |
ORPHA:342 |
| 8P11.2 Deletion Syndrome |
|
Iris coloboma, Microcornea, Splenomegaly, Cryptorchidism, Spherocytosis, High palate, Hemolytic a... |
ORPHA:251066 |
| Avian Influenza |
|
Pneumonia, Myelitis, Vomiting, Diarrhea, Hepatitis, Infectious encephalitis, Conjunctivitis, Abdo... |
ORPHA:454836 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Conjunctivitis |
OMIM:617591 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ... |
OMIM:251260 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... |
OMIM:601675 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Nausea and vomiting, Episodic abdominal pa... |
ORPHA:405 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1, Chronic diarrhea |
OMIM:300953 |
| Multiple Endocrine Neoplasia Type 1 |
|
Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce... |
ORPHA:652 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Nausea, Chronic diarrhea |
OMIM:615084 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ... |
OMIM:613471 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, ... |
ORPHA:167 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Early ossification of capital femoral epiphyses, Pulmonary insufficiency, Bile ... |
OMIM:208500 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu... |
OMIM:251880 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... |
OMIM:612301 |
| Acute Adrenal Insufficiency |
|
Diarrhea, Failure to thrive, Autoimmunity, Nausea and vomiting, Weight loss, Constipation, Anorex... |
ORPHA:95409 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Familial Hypoaldosteronism |
|
Diarrhea, Nausea and vomiting, Failure to thrive, Feeding difficulties |
ORPHA:427 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Weight loss, Small for gestational age |
ORPHA:424 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepat... |
OMIM:615688 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed... |
OMIM:618050 |
| Jacobsen Syndrome |
|
Microcornea, Annular pancreas, Cryptorchidism, Thrombocytopenia, Iris coloboma, Pyloric stenosis |
OMIM:147791 |
| Hereditary Angioedema Type 1 |
|
Vomiting, Diarrhea, Intestinal edema, Nausea, Abnormal soft palate morphology, Abdominal pain, Dy... |
ORPHA:100050 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Sclerosis of skull base, Annular pancreas, Delayed pubic bone ossification, High palate |
OMIM:618162 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hyp... |
ORPHA:116 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean plate... |
OMIM:153670 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Weight loss, Anorexia, Poor appetite |
ORPHA:97287 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... |
OMIM:616263 |
| Hereditary Fructose Intolerance |
|
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... |
ORPHA:469 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo... |
ORPHA:100078 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Abnormal cornea morphology |
OMIM:244400 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Superficial dermal perivascular inflammatory inf... |
ORPHA:324636 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho... |
OMIM:615512 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg... |
OMIM:162300 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Hyperostosis, Splenomegaly |
ORPHA:53715 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Hypophosphatemic rickets, Sple... |
OMIM:276700 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Poor appetite |
OMIM:201100 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Abdominal distention, Anal atresia |
OMIM:617666 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, P... |
ORPHA:36426 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto... |
ORPHA:79330 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... |
OMIM:270420 |
| Addison Disease |
|
Diarrhea, Failure to thrive, Celiac disease, Autoimmunity, Nausea and vomiting, Hashimoto thyroid... |
ORPHA:85138 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... |
ORPHA:2241 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Vomiting, Diarrhea |
OMIM:605911 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, Keratoconjunctivi... |
OMIM:240300 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Recurrent otitis media, Cryptorchidism, Aganglionic megacolon, Anal atresia,... |
OMIM:309800 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Osteopenia, Gastroesophageal reflux, Splenomegaly, Dysphagia, High palate, Hypertension |
OMIM:617913 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Hyposerinemia, Gastroesophageal reflux, Vomiting, Esophagitis, Megaloblastic anem... |
ORPHA:79351 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Vomiting, Diarrhea |
ORPHA:3240 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Feeding difficulties in infancy |
ORPHA:71212 |
| Biotinidase Deficiency |
|
Vomiting, Diarrhea, Skin rash, Feeding difficulties in infancy, Seborrheic dermatitis, Conjunctiv... |
OMIM:253260 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
| 19P13.13 Microdeletion Syndrome |
|
Macroglossia, Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Abdominal... |
ORPHA:357001 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Osteolysis, Erythroid hyperplasia, Splenomegaly, Keratoconjunctivitis, Increased feca... |
ORPHA:95159 |
| Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Nausea, Constipation |
ORPHA:2828 |
| Yellow Fever |
|
Diarrhea, Vomiting, Skin rash, Nausea, Hematemesis, Increased circulating interleukin 6 concentra... |
ORPHA:99829 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Esophagitis, Decreased serum zinc, Feeding difficulties |
ORPHA:541423 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Annular pancreas, Astigmatism, Cryptorchidism, Heterochr... |
ORPHA:264450 |
| Relapsing Fever |
|
Abdominal pain, Vomiting, Diarrhea |
ORPHA:91547 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Diarrhea, Malabsorption, An... |
ORPHA:33226 |
| Alternating Hemiplegia Of Childhood |
|
Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysm... |
ORPHA:2131 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Decreased body mass index, Pancreatitis, Hepatocellular carcinoma |
ORPHA:247585 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| Fabry Disease |
|
Vomiting, Diarrhea, Tenesmus, Nausea, Abdominal pain |
OMIM:301500 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal rectum morphology, Abnormality of the anus, Feeding difficulties, Abnormal testis morpho... |
ORPHA:2556 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Failure to thrive, Chronic diarrhea, Chronic constipation, Feeding diffi... |
ORPHA:500055 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Vomiting, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation |
OMIM:223900 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat... |
OMIM:617137 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Weight loss, Anorexia |
ORPHA:134 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Interstitial pneumonitis |
ORPHA:454831 |
| Turcot Syndrome With Polyposis |
|
Hematochezia, Melena, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Na... |
ORPHA:99818 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Palpitations, Splenomegaly, Angina pectoris, Arrhythmia, Pancreatitis, Low-output... |
ORPHA:565612 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidi... |
ORPHA:93932 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... |
ORPHA:556 |
| Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Duodenal ulcer, Cervicitis |
ORPHA:722 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... |
OMIM:612562 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotat... |
OMIM:263520 |
| Lujo Hemorrhagic Fever |
|
Abdominal cramps, Vomiting, Diarrhea, Skin rash, Maculopapular exanthema, Myocarditis, Nausea, Rh... |
ORPHA:319213 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Vomiting, Diarrhea, Increased body weight, Nausea, Hepatocellular adenoma, Hepatocellular carcinoma |
ORPHA:79240 |
| Amyloidosis, Hereditary Systemic 1 |
|
Diarrhea, Episodic vomiting, Constipation |
OMIM:105210 |
| Wilson Disease |
|
Sunflower cataract, Portal fibrosis, Kayser-Fleischer ring, Osteomalacia, Ascites, Splenomegaly, ... |
OMIM:277900 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Port... |
ORPHA:309854 |
| Lysinuric Protein Intolerance |
|
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Increased circulating antibody level, Ant... |
ORPHA:470 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Bile Acid Malabsorption, Primary, 2 |
|
Steatorrhea, Chronic diarrhea |
OMIM:619481 |
| 1P36 Deletion Syndrome |
|
Cataract, Dilated cardiomyopathy, Annular pancreas, Gastroesophageal reflux, Ocular albinism, Abn... |
ORPHA:1606 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Cleft palate, Annular pancreas, Developmental cataract |
ORPHA:488642 |
| Infantile Systemic Hyalinosis |
|
Failure to thrive, Malabsorption, Abnormality of the gastrointestinal tract, Steatorrhea, Chronic... |
ORPHA:2176 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Recurrent otitis media, Abdominal distentio... |
OMIM:620233 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Fat malabsorption, Malnutrition, Decreased body weight |
ORPHA:96180 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... |
ORPHA:447877 |
| Acute Intermittent Porphyria |
|
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... |
ORPHA:79276 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Decreased circulating antibody leve... |
OMIM:618183 |
| Japanese Encephalitis |
|
Diarrhea, Vomiting, Increased circulating antibody level, Infectious encephalitis, Anorexia, Abdo... |
ORPHA:79139 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Osteolysis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocy... |
ORPHA:79277 |
| Houge-Janssens Syndrome 1 |
|
Chronic diarrhea, Pyloric stenosis |
OMIM:616355 |
| Juvenile Polyposis Syndrome |
|
Rectocele, Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Failure to thrive, ... |
ORPHA:2929 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bun... |
ORPHA:99827 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent otitis media, Protruding tongue, Rec... |
ORPHA:99843 |
| Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Decreased HDL cholesterol concentration, Decreased testicula... |
ORPHA:110 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Macroglossia |
OMIM:309900 |
| Nephronophthisis 13 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:614377 |
| Lysinuric Protein Intolerance |
|
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Protein avoidance, Pancreatitis, Truncal obe... |
OMIM:222700 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449395 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ... |
ORPHA:280633 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation |
OMIM:608643 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon, Hepatic failure |
OMIM:619431 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Weight loss, Reye syndrome-like episodes, Episodic vomiting, Anorexia, Acute pancreatitis |
ORPHA:20 |
| Listeriosis |
|
Pneumonia, Arteritis, Diarrhea, Vomiting, Septic arthritis, Osteomyelitis, Pyelonephritis, Cholec... |
ORPHA:533 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Failure to thrive, Elevated stool chloride content, Abdominal distention |
OMIM:214700 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Peters anomaly, Furrowed tongue, Cryptorchidism, High ... |
OMIM:616975 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of ... |
ORPHA:50918 |
| Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Malabsorption, Synovitis, Rhinitis, Pancreatitis, Myocarditis, Hi... |
ORPHA:499009 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis |
OMIM:612918 |
| Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
| Phoar2-Enteropathy Syndrome |
|
Acne, Seborrheic dermatitis, Secretory diarrhea |
OMIM:614441 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Vomiting, Diarrhea, Skin rash, Episodic vomiting |
OMIM:618321 |
| Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Dysphagia, Failure to thrive |
OMIM:616457 |
| Cholera |
|
Vomiting, Diarrhea, Aspiration pneumonia, Achlorhydria, Abdominal pain, Abdominal cramps |
ORPHA:173 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
| Distal Deletion 12Q |
|
High, narrow palate, Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenom... |
ORPHA:96149 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Aspiration pneumonia, Decreased body weight, Achalasia, Chronic diarrhea... |
OMIM:617053 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Reye syndrome-like... |
OMIM:256810 |
| Melas |
|
Vomiting, Diarrhea, Failure to thrive, Intestinal pseudo-obstruction, Gastrointestinal dysmotilit... |
ORPHA:550 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased... |
ORPHA:29073 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Diarrhea, Vomiting, Skin rash, Increased circulating antibody level, Odynophagia, Orchit... |
ORPHA:99826 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Vomiting, Diarrhea, Feeding difficulties in infancy, High palate, Narrow palate |
OMIM:608836 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Gastrointestinal stroma tumor, Anorex... |
ORPHA:139411 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Decreased circulating... |
OMIM:210900 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Diarrhea, Reye syndrome-like episodes |
ORPHA:348 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... |
ORPHA:1199 |
| Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Bowel incontinence, Recurrent oti... |
ORPHA:2152 |
| Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Abnormal ... |
ORPHA:99921 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Diarrhea, Failure to thrive, Feeding difficulties |
OMIM:618278 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Abdominal distention |
OMIM:619362 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... |
ORPHA:125 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Decreased testicular size, Feeding difficulties, Perineal fistu... |
ORPHA:2753 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Diarrhea, Failure to thrive, Uveitis |
ORPHA:90321 |
| Serotonin Syndrome |
|
Nausea, Hepatic failure, Diarrhea |
ORPHA:43116 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati... |
ORPHA:93111 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Failure to thrive in infancy, Decreased circulating antibo... |
ORPHA:247598 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Oral leukoplakia, Chronic diarrhea, Failure to thrive, Esophageal stricture |
OMIM:613989 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Hypertension, Neoplasm of t... |
OMIM:193300 |
| Trichohepatoenteric Syndrome 1 |
|
Bifid uvula, Hepatic failure, Intractable diarrhea, Failure to thrive, Villous atrophy, Decreased... |
OMIM:222470 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Blepharitis, Chapped lip, Anal fissure, Psoriasiform dermatitis, Perianal dermatitis, Recurrent g... |
ORPHA:294023 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Gastroesophageal reflux, Velopharyngeal insufficiency, Eczematoi... |
OMIM:223370 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Cardiomegaly, Bradycardia, Cleft palate |
ORPHA:97297 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention |
OMIM:619351 |
| Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul... |
ORPHA:183675 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm of the rectum, Adenoma... |
ORPHA:454840 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Mala... |
ORPHA:144 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cystic angiomatosis of bone,... |
OMIM:608594 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... |
OMIM:620005 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Dysphagia, Failure to thrive, Feeding difficulties |
OMIM:620358 |
| Trichohepatoneurodevelopmental Syndrome |
|
Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocrine pancreatic in... |
OMIM:618268 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... |
ORPHA:99228 |
| Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... |
ORPHA:99226 |
| Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... |
ORPHA:881 |
| Blau Syndrome |
|
Cataract, Keratitis, Xerostomia, Abnormality of the liver, Large vessel vasculitis, Splenomegaly,... |
ORPHA:90340 |
| Distal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Failure to thrive, Constipation, Poor appetite |
ORPHA:18 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Diarrhea, Episodic vomiting |
OMIM:246450 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Vomiting, Diarrhea |
ORPHA:230 |
| Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent otitis media, Macroglossia, Tube feeding, Dysphagia |
OMIM:252940 |
| Colchicine Poisoning |
|
Myocarditis, Nausea, Vomiting, Diarrhea |
ORPHA:31824 |
| Farber Disease |
|
Hepatic failure, Failure to thrive, Arthritis, Chronic diarrhea, Feeding difficulties |
ORPHA:333 |
| Imerslund-Grasbeck Syndrome 2 |
|
Diarrhea |
OMIM:618882 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis, Secretory diarrhea |
OMIM:167100 |
| Vipoma |
|
Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo... |
ORPHA:97282 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia, Gastric ulcer |
OMIM:208060 |
| Digeorge Syndrome |
|
High, narrow palate, Bifid uvula, Cholelithiasis, Gastroesophageal reflux, Parathyroid hypoplasia... |
OMIM:188400 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hepatic cysts, Pancreatic cysts, Hypertension, Polycystic ... |
ORPHA:730 |
| Rothmund-Thomson Syndrome |
|
Vomiting, Diarrhea, Malar rash, Skin rash, Nasogastric tube feeding in infancy, Small for gestati... |
ORPHA:2909 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Palpitations, Myocardial infarction, Arrhythmia, Adrenal pheochromo... |
ORPHA:892 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cir... |
ORPHA:77293 |
| Neuroblastoma |
|
Weight loss, Chronic diarrhea, Abdominal distention |
ORPHA:635 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Abnormal gastrointestinal tract morphology, Hematemesi... |
ORPHA:464321 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Anteriorly placed anus, Sclerosis of skull base, Streak ovary, Aganglionic mega... |
ORPHA:798 |
| Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Vomiting, Hepatitis, Recurrent otitis media, Chronic hepatitis, Chronic diarrhea, Cl... |
OMIM:614921 |
| Kawasaki Disease |
|
Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Nausea and vomiting, Skin rash, Cholecyst... |
ORPHA:2331 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis |
ORPHA:457279 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Narrow palate, ... |
ORPHA:109 |
| Rothmund-Thomson Syndrome Type 2 |
|
Vomiting, Diarrhea, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac... |
ORPHA:221016 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor... |
OMIM:137920 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent pneumonia, Anorectal anomaly, Autoimmune hemolytic anemia, Cachexia, Ana... |
ORPHA:647 |
| Gitelman Syndrome |
|
Diarrhea, Failure to thrive, Nausea and vomiting, Gout, Hashimoto thyroiditis, Constipation, Tubu... |
ORPHA:358 |
| Rothmund-Thomson Syndrome Type 1 |
|
Vomiting, Diarrhea, Nasogastric tube feeding, Functional abnormality of the gastrointestinal trac... |
ORPHA:221008 |
| Chikungunya |
|
Diarrhea, Vomiting, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovit... |
ORPHA:324625 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
High palate, Chronic diarrhea, Chronic constipation, Decreased body weight |
OMIM:619005 |
| Sandhoff Disease |
|
Episodic abdominal pain, Macroglossia, Chronic diarrhea |
OMIM:268800 |
| Deeah Syndrome |
|
Narrow palate, Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Decreased ... |
OMIM:619004 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Chronic constipation |
OMIM:618333 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia,... |
ORPHA:95455 |
| Cerebrotendinous Xanthomatosis |
|
Diarrhea, Pseudobulbar paralysis |
OMIM:213700 |
| Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Splenomegaly, Polysplenia |
ORPHA:373 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Abnormal ton... |
ORPHA:158668 |
| Alg9-Cdg |
|
Bifid uvula, Vomiting, Diarrhea, Gastroesophageal reflux, Villous atrophy |
ORPHA:79328 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Bartter Syndrome, Type 1, Antenatal |
|
Vomiting, Diarrhea, Failure to thrive, Constipation, Small for gestational age |
OMIM:601678 |
| Multiple Endocrine Neoplasia Type 2 |
|
Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Aganglionic megacolon, Neoplasm of the... |
ORPHA:653 |
| Glycogen Storage Disease Ia |
|
Gout, Pancreatitis, Protuberant abdomen, Intermittent diarrhea, Hepatocellular carcinoma |
OMIM:232200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
| Diamond-Blackfan Anemia 21 |
|
Obesity, Chronic diarrhea |
OMIM:620072 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Abetalipoproteinemia |
|
Vomiting, Failure to thrive, Keratoconjunctivitis sicca, Steatorrhea, Chronic diarrhea, Fat malab... |
ORPHA:14 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Obesity, Constipa... |
OMIM:615873 |
| Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Malabsorption, Otitis media, Constipation, Protuberant abdomen, Macroglossi... |
ORPHA:581 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Vomiting, Failure to thrive, Recurrent pancreatitis, Dysphagia, Small for gestational a... |
OMIM:606721 |
| Liver Disease, Severe Congenital |
|
Pneumonia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Ec... |
OMIM:619991 |
| Bartter Syndrome, Type 2, Antenatal |
|
Vomiting, Diarrhea, Failure to thrive, Constipation, Small for gestational age |
OMIM:241200 |
| Ogden Syndrome |
|
Narrow palate, Vomiting, Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Tube feeding, H... |
OMIM:300855 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder |
OMIM:600001 |
| Sacral Defect With Anterior Meningocele |
|
Constipation, Rectal abscess |
OMIM:600145 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal... |
ORPHA:2255 |
| Proximal Renal Tubular Acidosis |
|
Malabsorption, Vomiting, Diarrhea, Failure to thrive |
ORPHA:47159 |
| Viss Syndrome |
|
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... |
OMIM:619472 |
| Hurler Syndrome |
|
Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
| Nmda Receptor Encephalitis |
|
Anti-NMDA receptor antibody positivity, Vomiting, Diarrhea, CSF anti-NMDA receptor antibody posit... |
ORPHA:217253 |
| Leptospirosis |
|
Uveitis, Diarrhea, Hepatitis, Nausea and vomiting, Skin rash, Optic neuritis, Anorexia, Abdominal... |
ORPHA:509 |
| Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dyspha... |
ORPHA:273 |
| Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer |
OMIM:605822 |
| Scorpion Envenomation |
|
Vomiting, Diarrhea, Myocarditis, Abdominal pain, Acute pancreatitis |
ORPHA:466677 |
| Penile Agenesis |
|
Cryptorchidism, Anal atresia, Tracheoesophageal fistula, Rectal fistula, Anorectal anomaly |
ORPHA:49 |
| Zttk Syndrome |
|
Bifid uvula, Failure to thrive, Submucous cleft hard palate, Feeding difficulties in infancy, Int... |
OMIM:617140 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Anal atresia, Gastroesophageal reflux, Chronic diarrhea |
ORPHA:3164 |
| African Trypanosomiasis |
|
Myelitis, Diarrhea, Vomiting, Keratitis, Optic neuritis, Weight loss, Myocarditis, Conjunctivitis... |
ORPHA:3385 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Failure to thrive in infan... |
ORPHA:500150 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Skin rash, Nausea |
ORPHA:90062 |
| Restrictive Dermopathy |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Submucous cleft hard palate |
ORPHA:1662 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Diarrhea, Neoplasm of the stomach, Anorexia, Increased b... |
ORPHA:99889 |
| Coffin-Siris Syndrome 1 |
|
Intestinal malrotation, Cryptorchidism, Feeding difficulties in infancy, High palate, Duodenal ul... |
OMIM:135900 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Carney Complex |
|
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Neopl... |
ORPHA:1359 |
| Occipital Horn Syndrome |
|
Hiatus hernia, High palate, Chronic diarrhea |
OMIM:304150 |
| Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Macroglossia, Chronic diarrhea |
ORPHA:580 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217093 |
| Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Acne |
OMIM:208400 |
