| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... |
OMIM:615615 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... |
OMIM:615214 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... |
OMIM:615592 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... |
OMIM:618261 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Bloody diarrhea, Leukocytosis, Ulc... |
OMIM:619398 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... |
OMIM:618108 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... |
OMIM:617006 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 102 |
|
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:301082 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating anti... |
OMIM:300635 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... |
OMIM:619802 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... |
ORPHA:158057 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgE, Tube feeding, Chronic diarrhea, T lymphocytopenia, Decreased proportio... |
OMIM:619510 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circula... |
OMIM:619281 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Episodic vomiting, S... |
OMIM:616050 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... |
OMIM:618969 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia |
OMIM:608898 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... |
OMIM:615767 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology |
OMIM:616911 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal na... |
OMIM:613101 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... |
OMIM:618944 |
| Immunodeficiency 52 |
|
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... |
OMIM:617514 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... |
OMIM:300400 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Elevate... |
OMIM:301074 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Abdominal pain, Lactose intolerance, 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 |
|
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count |
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 |
|
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... |
OMIM:605258 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... |
OMIM:212050 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... |
OMIM:620430 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, At... |
OMIM:617638 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Chronic diarr... |
OMIM:618394 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... |
OMIM:241600 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Chronic oral candidiasis, Recurrent otitis media, Gastroesophageal reflux, Complete or near-compl... |
OMIM:615401 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... |
OMIM:608106 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... |
OMIM:613493 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... |
OMIM:619707 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Chronic mucocutaneous candidiasis, High palate, Cutaneous absces... |
OMIM:619752 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... |
OMIM:618459 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Abnormal circulating cytokine concentration, Decreased liver function, Incr... |
ORPHA:540 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Solitary Rectal Ulcer Syndrome |
|
Intermittent diarrhea, Rectal prolapse, Anemia, Anal fissure, Abdominal pain, Bloody diarrhea, Ep... |
ORPHA:209964 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
| Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthritis, ... |
OMIM:604416 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... |
OMIM:308240 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... |
OMIM:243150 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... |
OMIM:614699 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... |
OMIM:153600 |
| Immunodeficiency 11A |
|
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... |
OMIM:613502 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... |
OMIM:266600 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... |
OMIM:613500 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi... |
OMIM:615190 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema... |
OMIM:600802 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Anemia, Hypokalemia, Diarrhea, Abdominal pain, Colon ca... |
OMIM:174900 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Pneumonia, Abnormal immunoglobulin level, Increased circulating IgG lev... |
ORPHA:276 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea, T lymphocytopenia, Protruding tongue, Sinusitis, Increased circulating IgM level, Bronc... |
OMIM:242860 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
| Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level |
OMIM:300310 |
| Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... |
OMIM:618982 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increased circul... |
OMIM:243700 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno... |
OMIM:617388 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine |
OMIM:616868 |
| Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... |
ORPHA:2869 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lympho... |
OMIM:619164 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic d... |
ORPHA:98813 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D... |
OMIM:614878 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... |
OMIM:610163 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea, Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, Diarrhea, Intestinal p... |
ORPHA:90038 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... |
OMIM:607271 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... |
ORPHA:171673 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarr... |
OMIM:619079 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... |
ORPHA:35078 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... |
ORPHA:35122 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... |
OMIM:614700 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... |
OMIM:147060 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Colitis, Chronic mucocutaneous candidiasis, C... |
OMIM:209920 |
| Sweet Syndrome |
|
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Elevated circulating C... |
ORPHA:3243 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Enterocolitis, Vomiting |
OMIM:260005 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ... |
OMIM:619381 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy |
ORPHA:52416 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis |
ORPHA:88643 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Intestinal Dysmotility Syndrome |
|
Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti... |
OMIM:620045 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... |
OMIM:612692 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... |
OMIM:619846 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,... |
OMIM:615559 |
| Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption |
ORPHA:103909 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Abdom... |
ORPHA:424019 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis |
OMIM:616744 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Reduced circ... |
OMIM:301220 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Diarrhea, Increased circulating IgE level, Anti-thyroid peroxidase antibo... |
ORPHA:277 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhea, Arthriti... |
OMIM:601457 |
| Angioedema, Hereditary, 8 |
|
Diarrhea, Abdominal pain, Episodic vomiting |
OMIM:619367 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... |
ORPHA:70476 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis |
OMIM:613148 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... |
OMIM:142623 |
| Immunodeficiency 104 |
|
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastroesophageal ref... |
OMIM:608971 |
| Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia |
OMIM:619773 |
| Diarrhea 9 |
|
Diarrhea, Failure to thrive, Villous atrophy |
OMIM:618168 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... |
ORPHA:331206 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... |
ORPHA:79076 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Splenomegaly, Abnormal blood ion concentration, Psoriasiform derma... |
ORPHA:37042 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Absent isohemagglutinin level, Diarrhea, Failure to thrive, Agammaglobuli... |
OMIM:613501 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... |
ORPHA:98957 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Neonatal hypoproteinemia, Decreased circulating IgG level, Malabsorp... |
OMIM:152800 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Failure to thrive, Small for gestational age, Crypt hyperplasia,... |
OMIM:613217 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... |
ORPHA:48104 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon... |
ORPHA:3261 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Diarrhea, F... |
OMIM:618495 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Abnormal intestine morphology, Vomiting, Failure to thrive, Feeding difficulties in inf... |
OMIM:606528 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Bone marrow hyp... |
OMIM:620133 |
| Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Thrombocytopenia, Splenomegaly, Feeding difficulties, Increased circulating Interfero... |
OMIM:615010 |
| Hirschsprung Disease |
|
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Diarrhea, Functional abnorma... |
ORPHA:388 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Intussu... |
OMIM:112200 |
| Cap Polyposis |
|
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... |
ORPHA:160148 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Arthritis, Rheumatoid factor positive, Synovitis, Abnormal circulating i... |
ORPHA:85435 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Weigh... |
ORPHA:411593 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... |
ORPHA:79124 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs |
ORPHA:882 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... |
ORPHA:26790 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Rectal fistula, Chronic oral candidiasis, Recurrent otitis media, Focal ac... |
OMIM:616433 |
| Galactose Epimerase Deficiency |
|
Cataract, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Dec... |
OMIM:618131 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Antinuclear antibody positivity, Increased circulating interleukin 6 concentration, Increased cir... |
OMIM:620514 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy |
OMIM:615863 |
| Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... |
ORPHA:178320 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgG, Chronic oral candidiasis, Gastroesophageal reflux, Nasogastric t... |
ORPHA:221139 |
| Reticular Dysgenesis |
|
Chronic otitis media, Diarrhea, Skin rash, Decreased circulating antibody level, Failure to thriv... |
ORPHA:33355 |
| Trimethylaminuria |
|
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia |
OMIM:602079 |
| Rabies |
|
Anorexia, Nausea and vomiting, Diarrhea |
ORPHA:770 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, Diarrhea, B lym... |
ORPHA:391487 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Anti-smooth muscle antibody positivity, Increased circulating antibo... |
ORPHA:2137 |
| Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Increased circulating interleukin 6 concentration... |
ORPHA:90051 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Abdominal pain, Necrotizing enterocolitis, High palate, Elevated circulating creatine kinase conc... |
OMIM:616809 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... |
ORPHA:169154 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Abdominal pain, Diarr... |
ORPHA:67 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
| Diarrhea 6 |
|
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism |
OMIM:614616 |
| Secondary Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... |
ORPHA:95427 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A... |
ORPHA:103907 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Failure to thrive, Chronic hepatiti... |
OMIM:614602 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... |
OMIM:619220 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... |
OMIM:614470 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ... |
OMIM:618213 |
| Restrictive Dermopathy 2 |
|
Rectal prolapse, Feeding difficulties, Gastroesophageal reflux |
OMIM:619793 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Osteoporosis, Biliary tract abnor... |
ORPHA:79301 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... |
OMIM:240500 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intussusception, Myocarditis, Increased circulating interleukin 6 concentration, Hypocalcemia, Ab... |
ORPHA:544482 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Increased circulating IgA level, Monoclonal elevation of c... |
ORPHA:555905 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertol... |
OMIM:175200 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Diarrhea, Crohn's disease, Arthritis, Decreased circulating antibody... |
OMIM:616100 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:617068 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology |
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, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... |
OMIM:607594 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Chronic diarrhea, Decreased circulating antibody level, Failure to thri... |
OMIM:616740 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
| Immunodeficiency 27A |
|
Anorexia, Increased circulating IgG level, Diarrhea, Salmonella osteomyelitis, Rheumatoid factor ... |
OMIM:209950 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
ORPHA:70593 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili... |
ORPHA:411696 |
| Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Chronic diarrhea, Increased fecal bile acid, Failure to thrive, Fat malabsorption |
OMIM:613291 |
| Pouchitis |
|
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... |
ORPHA:217067 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased T cell count, Splenomegaly, Increased circulating interleukin 6 concentration, Congenit... |
OMIM:620376 |
| Immunodeficiency 92 |
|
Thrombocytosis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:619652 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Gastroesophageal reflux, Increased circulating IgE level, Atopic dermatitis, Gastrointestinal eos... |
OMIM:620532 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma... |
ORPHA:251992 |
| Atopic Keratoconjunctivitis |
|
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... |
ORPHA:163934 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis |
ORPHA:401911 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Melena, Keratoconjunctivitis, Furrowed tongue, Cataract, Eosinophilia... |
OMIM:158310 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr... |
OMIM:301000 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... |
ORPHA:70475 |
| Ménétrier Disease |
|
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... |
ORPHA:2494 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:542323 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly, Perianal abscess |
OMIM:619437 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Chronic diarrhea, Esophageal... |
OMIM:614576 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... |
OMIM:612567 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... |
ORPHA:911 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Erysipel... |
OMIM:235510 |
| Shigellosis |
|
Abnormal blood ion concentration, Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic... |
ORPHA:810 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Chronic diarrhea, Eczematoid dermatitis, Failure to thrive, Pneumonia |
OMIM:269840 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:300861 |
| Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... |
ORPHA:70578 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... |
OMIM:619705 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis |
ORPHA:100024 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Vomiting, Failure to thrive, Pustule, Recurrent pneumonia, Secre... |
OMIM:616069 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology |
ORPHA:100025 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... |
OMIM:601495 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Chronic diarrhea, ... |
OMIM:612782 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Congenital Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... |
OMIM:615237 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal neovascularization, Hepatomegaly, Tarsal sclerosis, Reduced bone mineral density, Scleros... |
ORPHA:404454 |
| Thymoma |
|
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... |
ORPHA:99867 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
| Dietary Iron Overload Disease |
|
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... |
ORPHA:139507 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... |
OMIM:618935 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain, Malabsorption |
OMIM:222900 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Angina pectoris, Corneal opacity, Splenomegaly |
ORPHA:79292 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... |
OMIM:106210 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Chronic oral candidiasis, Increased circulating antibody level, Failure to thrive secon... |
ORPHA:169160 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... |
OMIM:608233 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Bloody diarrhea, Duodenitis, Failure to thrive, Blepharitis, Pus... |
OMIM:614328 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... |
ORPHA:2198 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Increased hepatitis B virus antibody level, Abdominal pain, Vomiting, Nause... |
ORPHA:90003 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Hypertension, Increased fecal coproporphyrin III:coproporphyrin I ratio, ... |
OMIM:121300 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... |
OMIM:619774 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... |
OMIM:176920 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Aicardi-Goutieres Syndrome 5 |
|
Increased circulating interferon-gamma concentration, Feeding difficulties in infancy, Thrombocyt... |
OMIM:612952 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... |
OMIM:237800 |
| Sandhoff Disease |
|
Congestive heart failure, Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Anemia, Hemophagocytosis, Abnormal natural killer cell co... |
ORPHA:158048 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Inflammation... |
ORPHA:324964 |
| Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
| Progressive Familial Intrahepatic Cholestasis |
|
Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Increased circulating interleukin 10 concentration |
OMIM:613759 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... |
OMIM:615285 |
| Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Periodontitis, Abdominal pain, Tooth abscess, Enter... |
ORPHA:2686 |
| Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia |
OMIM:616873 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Acute otitis media, Panhypogammaglobulinemia, Sclerosing cholangitis... |
ORPHA:572 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctivitis sicca, Tela... |
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, Abnormal con... |
OMIM:180550 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
| Immunodeficiency 56 |
|
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Chronic diarrhea, Bronchiectasis, ... |
OMIM:615207 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Immunodeficiency 22 |
|
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Diarrhea, Decreased circulatin... |
OMIM:615758 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Elevated circulating C-react... |
OMIM:613960 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... |
OMIM:601859 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper... |
OMIM:612714 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis |
ORPHA:319552 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, Sinusitis, Failur... |
ORPHA:229717 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Diarrhea, Arthritis, Skin rash, High palate, Sinusitis, Failure to thrive, ... |
ORPHA:33110 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... |
OMIM:603552 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia |
OMIM:618852 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... |
OMIM:601346 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
| Dubowitz Syndrome |
|
Rectal prolapse, Anal stenosis, Anemia, Hypoparathyroidism, Chronic diarrhea, High palate, Eczema... |
ORPHA:235 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:610539 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Hypoparathyroidism, Aganglionic megacolo... |
ORPHA:567 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Weight loss |
OMIM:612075 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
| Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Corneal opacity, Splenomegaly |
ORPHA:93476 |
| Chylomicron Retention Disease |
|
Steatorrhea, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Failu... |
OMIM:246700 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... |
OMIM:208540 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy... |
OMIM:620603 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Splenomegaly, Dysphagia |
ORPHA:77260 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... |
OMIM:617718 |
| Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:610293 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia |
ORPHA:217390 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... |
OMIM:211600 |
| Diarrhea 13 |
|
Vomiting, Failure to thrive, Secretory diarrhea |
OMIM:620357 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Reduced bone mineral density, Abn... |
ORPHA:1414 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Leukocytosis, ... |
ORPHA:37748 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic ... |
OMIM:613313 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Anemia, Hypocalcemia, Functional abnormality of the gastrointestinal... |
ORPHA:90362 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... |
OMIM:614069 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Vomiting |
ORPHA:30925 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... |
ORPHA:2070 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... |
OMIM:619767 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:301081 |
| Kid Syndrome |
|
Corneal neovascularization, Delayed pubic bone ossification, Corneal erosion, Limbal stem cell de... |
ORPHA:477 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent otitis media, Arthritis, Abnormal intestine morphology, Decreased circulating antibody ... |
ORPHA:397596 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Abnormality of iron homeostasis, Gastritis, Villous atrophy, Panhypogammagl... |
ORPHA:84064 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Anoperineal fistul... |
OMIM:615607 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection, Ly... |
ORPHA:2688 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Anti-smooth muscle antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, ... |
ORPHA:562639 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Perlman Syndrome |
|
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis |
OMIM:271500 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Chronic diarrhea, Skin rash, Arthritis, Glossoptosis, Sinusitis, Failure to... |
ORPHA:47 |
| Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Ascites, Osteoporosis, Splenomegaly |
ORPHA:87876 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Chronic diarrhea, Abdominal pain, Hypoproteinemia, Elevated circulating creatine kinase c... |
OMIM:615895 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... |
OMIM:300291 |
| Wolfram Syndrome 2 |
|
Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Diarrhea, Failure ... |
OMIM:615387 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy... |
OMIM:619463 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
| Galactosemia Iii |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, Megarectum, Cry... |
OMIM:301056 |
| Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit... |
OMIM:615710 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:620010 |
| Dracunculiasis |
|
Diarrhea, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Nausea and vomiting |
ORPHA:231 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... |
ORPHA:449400 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| Cystic Fibrosis |
|
Steatorrhea, Rectal prolapse, Pancreatitis, Diarrhea, Meconium ileus, Recurrent pneumonia, Hepato... |
OMIM:219700 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... |
OMIM:618986 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Increased circulating IgE level, Arthritis, Eczematoid dermatitis, Hepatitis, F... |
OMIM:304790 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abdominal pain, Abnormal circulating interleukin concentration, Small for gestational age, Cholec... |
ORPHA:69665 |
| Hereditary Folate Malabsorption |
|
Anorexia, Cheilitis, Gastroesophageal reflux, Diarrhea, Glossitis, Decreased circulating antibody... |
ORPHA:90045 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Decreased circulating IgG lev... |
ORPHA:275 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Central Diabetes Insipidus |
|
Anorexia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting |
ORPHA:178029 |
| Pancreas, Annular |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
ORPHA:675 |
| Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Pancreatitis, Increased circulatin... |
OMIM:615947 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly |
ORPHA:75234 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Protein-losing enteropathy, Diarrhea, Hematochezia, Weight loss |
ORPHA:103910 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila... |
OMIM:602390 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Rectal prolapse, Gastroesophageal reflux, Accessory spleen, Hypoplasia of the thymus, Pyloric ste... |
OMIM:613177 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
| New-Onset Refractory Status Epilepticus |
|
Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Glucose/Galactose Malabsorption |
|
Abdominal distention, Chronic diarrhea, Failure to thrive, Malabsorption, Hyperactive bowel sounds |
OMIM:606824 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism |
OMIM:618107 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Hepatomegaly, Gastroesophageal reflux, Ascites, Pulmonary arterial hype... |
ORPHA:2414 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren... |
OMIM:614379 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Increased T cell count, Abnorm... |
ORPHA:263665 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites,... |
OMIM:269920 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Episodic vomiting, Necrot... |
OMIM:201475 |
| Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Failure to thrive, Diarrhea, Malabsorption |
OMIM:229050 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Abdominal pain, Hyperlipidemia, Hepatic failure, Biliary hyperplasia, Abnormality... |
ORPHA:567983 |
| Congenital Tufting Enteropathy |
|
Abdominal distention, Steatorrhea, Elevated fecal osmolality, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Diarrhea, Abdominal pa... |
ORPHA:319218 |
| Cog7-Cdg |
|
Diarrhea, Failure to thrive, Feeding difficulties, Small for gestational age |
ORPHA:79333 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Abdominal pain, Ca... |
OMIM:603041 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools |
OMIM:619868 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation |
ORPHA:85447 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:545 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... |
ORPHA:64743 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... |
ORPHA:75564 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Aganglionic megacolon, Pulmonary arterial hypertension, Asplenia, Aortic valve ... |
ORPHA:210122 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... |
ORPHA:2930 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... |
OMIM:619375 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis |
OMIM:619658 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Diarrhe... |
ORPHA:298 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... |
OMIM:620210 |
| Beta-Thalassemia |
|
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic cardiomyopathy, ... |
ORPHA:848 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... |
ORPHA:98848 |
| Amyloidosis, Familial Visceral |
|
Hypertension, Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Dysphagia, Constipation |
ORPHA:309162 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas, Duodenal atresia |
ORPHA:1203 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss, Malnu... |
ORPHA:35710 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat... |
OMIM:607765 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Gastroesophageal reflux, Recurrent aspiration pneumonia, Feeding difficult... |
OMIM:619971 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Fetal Gaucher Disease |
|
Stillbirth, Hepatomegaly, Pancytopenia, High palate, Neonatal death, Thrombocytopenia, Abnormalit... |
ORPHA:85212 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Diarrhea, Chronic diarrhea, Increased circulating IgA level, Abdominal pain, Skin r... |
OMIM:617099 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... |
OMIM:606367 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Chronic diarrhea, Reduced circulating transferrin concentration, Intestin... |
ORPHA:90363 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Alopecia Totalis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:700 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... |
OMIM:602450 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... |
OMIM:102700 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... |
ORPHA:73263 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Anal canal adenocarcinoma... |
ORPHA:424016 |
| Immunodeficiency 10 |
|
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Increased circulating IgA level, A... |
OMIM:612783 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto... |
OMIM:603553 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... |
OMIM:603909 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ... |
OMIM:618282 |
| Budd-Chiari Syndrome |
|
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint... |
ORPHA:131 |
| Congenital Rubella Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasi... |
ORPHA:290 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... |
OMIM:175780 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... |
OMIM:616860 |
| Leprechaunism |
|
Abdominal distention, Rectal prolapse, Hypokalemia, Increased circulating renin level, Megarectum... |
ORPHA:508 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly |
OMIM:214900 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... |
OMIM:619849 |
| Hemochromatosis, Type 1 |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci... |
OMIM:235200 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Hepatomegaly, Splenomegaly |
OMIM:230650 |
| Beta-Thalassemia Intermedia |
|
Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Decreased mean corpu... |
ORPHA:231222 |
| Alpha-Mannosidosis |
|
Narrow palate, Hepatomegaly, Craniofacial hyperostosis, Corneal opacity, Splenomegaly, Cataract, ... |
ORPHA:61 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Panniculitis, Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-r... |
OMIM:608068 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S... |
ORPHA:79477 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells,... |
OMIM:256550 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... |
OMIM:300853 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concen... |
OMIM:619573 |
| Immunodeficiency 115 With Autoinflammation |
|
Intermittent diarrhea, Intestinal lymphangiectasia, Partial absence of specific antibody response... |
OMIM:620632 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... |
OMIM:616278 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... |
OMIM:616828 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
| Yao Syndrome |
|
Keratoconjunctivitis sicca, Diarrhea, Abdominal pain, Skin rash, Arthritis, Pericarditis, Inflamm... |
OMIM:617321 |
| Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Periodontitis, Rectal abscess, Chronic dia... |
OMIM:116920 |
| Wolman Disease |
|
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly |
ORPHA:75233 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... |
OMIM:601847 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Protein-losing enteropathy, Diarrhea, Abdominal pain, Cachexia, Glossitis, Hamartomatou... |
OMIM:175500 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... |
OMIM:611490 |
| Lacrimoauriculodentodigital Syndrome |
|
Recurrent corneal erosions, Corneal neovascularization, Abnormal salivary gland morphology, Lacri... |
ORPHA:2363 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... |
ORPHA:98849 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... |
ORPHA:2585 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Diarrhea, Abdominal pain, Vomiting, Constipation, Feeding difficulties |
OMIM:613638 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Free Sialic Acid Storage Disease |
|
Reduced bone mineral density, Hepatomegaly, Ascites, Iris hypopigmentation, Splenomegaly |
ORPHA:834 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
| Adiposis Dolorosa |
|
Diarrhea, Arthritis, Constipation, Obesity, Recurrent skin infections, Autoimmunity, Xerostomia |
ORPHA:36397 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Failure to thrive, Esophagitis, Dysphagia |
OMIM:613412 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Failure to thrive, Esophagitis, Dysphagia |
OMIM:610247 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Pancreatitis, Cholelithiasis, Abnormal large intestine physiology, A... |
ORPHA:171 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Pancreatitis, Acholic stools, Abdominal pain, Chronic diarrhea, Hepatocellular carcinom... |
ORPHA:65682 |
| Selective Igm Deficiency |
|
Crohn's disease, Chronic diarrhea, Recurrent vulvovaginal candidiasis, Decreased specific antibod... |
ORPHA:331235 |
| Nephronophthisis 19 |
|
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... |
OMIM:616217 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:615952 |
| Griscelli Syndrome |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ... |
ORPHA:381 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Ascites, Hypoplastic colon, Cra... |
OMIM:200995 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Abdominal pain, Diarrhea, Skin rash, Nausea, Increased circulati... |
ORPHA:83313 |
| Vascular Hyalinosis |
|
Diarrhea, Protein-losing enteropathy, Hematochezia, Malabsorption |
OMIM:277175 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... |
ORPHA:100082 |
| Babesiosis |
|
Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly... |
ORPHA:108 |
| Interstitial Cystitis |
|
Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion, Elevated circulatin... |
ORPHA:37202 |
| Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Osteolytic defects of the phalanges of the hand, Limbal stem cell def... |
OMIM:618175 |
| American Trypanosomiasis |
|
Myocarditis, Aganglionic megacolon, Diarrhea, Abdominal pain, Abnormal large intestine physiology... |
ORPHA:3386 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia |
OMIM:620282 |
| Harderoporphyria |
|
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... |
OMIM:618892 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hepatocellular adenoma, Anemia, Pancreatitis, Hyperuricemia, Periodontitis,... |
ORPHA:79259 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Abdominal pain, Pancreatitis, Vomiting |
OMIM:620137 |
| Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Abdominal pain, Vomiting, Nausea |
ORPHA:79457 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diarrhea, Abd... |
ORPHA:343 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop... |
OMIM:618048 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... |
ORPHA:100026 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eos... |
OMIM:618999 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Constipation, Chronic constipation |
OMIM:248360 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Intestinal lymphangiectasia, Diarrhea, Abdominal pain, Decreased circulat... |
OMIM:226300 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
| Adams-Oliver Syndrome 6 |
|
Esophageal varix, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis |
OMIM:616589 |
| Pediatric Systemic Lupus Erythematosus |
|
Abdominal distention, Abnormality of the gastrointestinal tract, Lupus anticoagulant, Antiphospho... |
ORPHA:93552 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Abnormal rectum morphology, Constipation, Cleft palate, Feeding difficulti... |
OMIM:239300 |
| Feingold Syndrome |
|
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia |
ORPHA:1305 |
| Mpi-Cdg |
|
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Vomi... |
ORPHA:79319 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Decreased circulating antibody level, Leukocytosis |
OMIM:618042 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Proteus-Like Syndrome |
|
Hyperostosis, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Limbal dermoid, P... |
ORPHA:2969 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Chronic diarrhea, Chilblains, Failure to thrive, Membranoproliferative g... |
OMIM:619858 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Increased circulating IgE level, Leukocytosis |
ORPHA:2902 |
| Glycogen Storage Disease Ib |
|
Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Inflammation of the large ... |
OMIM:232220 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Diarrhea, Constipation, Failure to thrive, Dysphagia, Feeding difficulties |
ORPHA:35708 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha... |
OMIM:278000 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... |
OMIM:620367 |
| Myelofibrosis |
|
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... |
OMIM:254450 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa... |
ORPHA:91138 |
| Cystic Fibrosis |
|
Steatorrhea, Rectal prolapse, Gastroesophageal reflux, Meconium ileus, Sinusitis, Exocrine pancre... |
ORPHA:586 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Increased red blood cell count, Elevated plasma cell count, H... |
ORPHA:90041 |
| Visceral Myopathy 1 |
|
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... |
OMIM:155310 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Chronic otitis media, Chronic diarrhea, Abnormal platelet function, Sinusitis, Hemat... |
ORPHA:906 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... |
OMIM:602347 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Failure to thrive, Feedin... |
ORPHA:927 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Decreased pineal volume, Bone marrow hypocellularity |
OMIM:301108 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... |
OMIM:242700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Abdominal pain, Neutrophilia, Hepatosplen... |
ORPHA:3260 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
| Netherton Syndrome |
|
Hypereosinophilia, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
| Castleman Disease |
|
Intestinal obstruction, Abdominal distention, Abnormality of the gastrointestinal tract, Increase... |
ORPHA:160 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... |
OMIM:235700 |
| Combined Malonic And Methylmalonic Acidemia |
|
Vomiting, Intermittent diarrhea, Nasogastric tube feeding, Failure to thrive |
ORPHA:289504 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... |
ORPHA:85436 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... |
OMIM:617394 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... |
ORPHA:48377 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Lymphopenia, Bronchiectasis... |
OMIM:619708 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Abdominal pain, Dia... |
OMIM:212750 |
| Enteric Anendocrinosis |
|
Diarrhea, Malabsorption, Vomiting |
ORPHA:83620 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating ant... |
OMIM:181000 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Pneumonia, Inflammatory abnormality of the eye, Stomatitis, Abdomi... |
ORPHA:39812 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... |
OMIM:194380 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Developmental glaucoma, Splenic cyst, Pancreatic hypoplasia, Cholestasi... |
OMIM:610199 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Encopresis, Gastroesophageal reflux, Diarrhea, Abdominal pain, Decreased body weight, Constipatio... |
ORPHA:589821 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... |
ORPHA:846 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Esophageal varix, ... |
OMIM:263200 |
| Microscopic Polyangiitis |
|
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Abdominal pain... |
ORPHA:727 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Peptic ulcer, Rectal prolapse, Chronic otitis media, Ga... |
ORPHA:904 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... |
OMIM:615122 |
| Cold Agglutinin Disease |
|
Diarrhea, Nausea and vomiting, Autoimmunity |
ORPHA:56425 |
| Farber Lipogranulomatosis |
|
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Splenomegaly, ... |
OMIM:228000 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Feeding difficulties in infancy, Vomiting |
OMIM:264350 |
| Gaucher Disease Type 1 |
|
Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Biliary tr... |
ORPHA:77259 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c... |
OMIM:167800 |
| Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly |
OMIM:235555 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du... |
OMIM:613812 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... |
OMIM:615816 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a... |
OMIM:106300 |
| Carpenter Syndrome |
|
Abnormal cornea morphology, Craniosynostosis, Cryptorchidism, Polysplenia |
ORPHA:65759 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Diarrhea, Vomiting, Failure to thrive, ... |
OMIM:602579 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Anemia, Malabsorption, Lymphopenia, Agammaglobulinemia |
ORPHA:935 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... |
ORPHA:100080 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... |
OMIM:617319 |
| Pemphigus Vulgaris |
|
Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity, Feeding difficultie... |
ORPHA:704 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Jejunitis, Chronic diarrhea, Abdominal pain, Autoimmune antibody posi... |
ORPHA:398063 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W... |
ORPHA:309031 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... |
OMIM:301078 |
| Tangier Disease |
|
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Opacification of the corneal stroma, My... |
OMIM:205400 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity, Malabsorption, Villous atrophy |
OMIM:600955 |
| Transcobalamin Ii Deficiency |
|
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... |
OMIM:275350 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Astigmatism, Pancytopen... |
OMIM:617052 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Thromboc... |
ORPHA:398124 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired p... |
OMIM:618372 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... |
OMIM:150550 |
| Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Aortic regurgitation |
ORPHA:93474 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia |
ORPHA:99745 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... |
ORPHA:3226 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... |
OMIM:613470 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:615577 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Hepatitis, Thr... |
ORPHA:905 |
| Lassa Fever |
|
Diarrhea, Abdominal pain, Increased circulating IgM level, Dysphagia, Conjunctivitis, Nausea and ... |
ORPHA:99824 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Recurrent otitis media, Chronic diarrhea, Poor suck, Failure to thrive, Feeding difficulties, Chr... |
OMIM:617788 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... |
ORPHA:824 |
| Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, High palate, Cleft palate, Feeding difficulties |
OMIM:266280 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Skin rash |
ORPHA:29822 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Rectal prolapse, Gastroesophageal reflux, High palate, Eczematoid dermatitis, Pseudohypoparathyro... |
OMIM:617157 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... |
OMIM:615234 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia |
ORPHA:90037 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent aphthous stomatitis, Periodontitis, Diarrhea, Abdominal pain, Rhinitis, Recurrent infec... |
ORPHA:486 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Gastrointestinal Stromal Tumor |
|
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... |
ORPHA:44890 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Stomatitis, Hepatocellular carcinoma, Hyperlipidemia, Inflam... |
OMIM:232240 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee... |
ORPHA:464329 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s... |
OMIM:230800 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula, Villous atrophy |
OMIM:601110 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... |
OMIM:266200 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Adenoma sebaceum, Diarrhea, Pancreatic islet cell adenoma, Esophagitis, Pituitary p... |
OMIM:131100 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Feeding difficulties, Vomiting |
OMIM:177735 |
| Chylomicron Retention Disease |
|
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Failure to thrive, Fat malabsorption |
ORPHA:71 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Feeding d... |
OMIM:613489 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Chronic diarrhea, Abdominal pain, Skin rash, Vomiting, Ery... |
OMIM:142680 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Hypertension, Neon... |
OMIM:308205 |
| Cocaine Intoxication |
|
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Elevated c... |
ORPHA:90068 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Hereditary Mixed Polyposis Syndrome |
|
Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Rectal polyposis, A... |
ORPHA:157794 |
| Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Anal atresia, Cryptorchidism |
OMIM:613390 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... |
ORPHA:507 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... |
OMIM:257200 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly |
OMIM:252920 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... |
ORPHA:86843 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Diarrhea, Ent... |
OMIM:307200 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Gastroesophageal reflux, Diarrhea, High palate, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
| Dominant Beta-Thalassemia |
|
Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Jaundice, ... |
ORPHA:231226 |
| Adams-Oliver Syndrome 5 |
|
Esophageal varix, Pulmonary arterial hypertension, Portal vein thrombosis, Pulmonic stenosis, Spl... |
OMIM:616028 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia |
ORPHA:1198 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Necrotizing enterocolitis, High palate, Polycythemia, Mitochondrial swelling,... |
OMIM:606812 |
| Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Hematochezia, Abdominal pain, Colitis |
OMIM:203300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Vomiting, F... |
OMIM:608104 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... |
OMIM:185000 |
| Cutaneous Mastocytoma |
|
Diarrhea, Abdominal pain, Vomiting, Nausea, Maculopapular exanthema |
ORPHA:79455 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... |
ORPHA:457077 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
| Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... |
ORPHA:100075 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Diarrhea, Failure to thrive, Feeding difficulties, Vomiting |
OMIM:250940 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Chronic diarrhea, Hashimoto thyroiditis, Failure to thrive in infancy, A... |
OMIM:613385 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:809 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Bronchiectasis, Chronic diarrhea |
OMIM:619446 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Defective production of NFKB... |
OMIM:612132 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
| Caroli Disease |
|
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... |
ORPHA:53035 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Anemia, Periodontitis, Esophagitis, Inflammation of the large intestine, Conjunctiviti... |
ORPHA:2908 |
| Spherocytosis, Type 4 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Hypocomplementemic Urticarial Vasculitis |
|
Inflammatory abnormality of the eye, Diarrhea, Abdominal pain, Skin rash, Arthritis, Episcleritis... |
ORPHA:36412 |
| Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
| Classical Ehlers-Danlos Syndrome |
|
Rectal prolapse, Gastroesophageal reflux, Vomiting, Nausea, Osteoarthritis, Chronic constipation,... |
ORPHA:287 |
| Sapho Syndrome |
|
Steatorrhea, Chronic diarrhea, Abdominal pain, Skin rash, Arthritis, Synovitis, Inflammation of t... |
ORPHA:793 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Diarrhea, Abdominal pain, Celiac disease, Constipation, Hashimoto thyroiditis, Failure ... |
ORPHA:199299 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia |
OMIM:145981 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Zollinger-Ellison Syndrome |
|
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Pitu... |
ORPHA:913 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Abnormal number of alpha granules, Epistaxis, Thrombocytopenia, Splenomegaly |
OMIM:139090 |
| Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Weight loss |
ORPHA:677 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae |
ORPHA:3035 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Failure to thrive, Diarrhea, Weight loss |
ORPHA:1842 |
| Necrotizing Enterocolitis |
|
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom... |
ORPHA:391673 |
| Polycythemia Vera |
|
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... |
ORPHA:729 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con... |
ORPHA:231214 |
| Spherocytosis, Type 2 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Galactosemia I |
|
Decreased liver function, Failure to thrive, Diarrhea, Vomiting |
OMIM:230400 |
| Meckel Syndrome |
|
Accessory spleen, Microcornea, Furrowed tongue, Asplenia, Cryptorchidism, Cleft palate, Congenita... |
ORPHA:564 |
| Angioedema, Hereditary, 1 |
|
Diarrhea, Abdominal pain, Vomiting, Intestinal edema, Autoimmunity |
OMIM:106100 |
| Pseudo-Torch Syndrome 1 |
|
Jaundice, Hepatomegaly, High palate, Thrombocytopenia, Splenomegaly, Cataract, Opacification of t... |
OMIM:251290 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... |
OMIM:603903 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Chronic diarrhea, Poor appetite, Weight loss, Macroglossia |
ORPHA:2221 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea, Increase... |
ORPHA:100924 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Villous atrophy, Pancytopenia... |
OMIM:557000 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... |
OMIM:226990 |
| Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
| Pearson Syndrome |
|
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Dysphagi... |
ORPHA:699 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Diarrhea, Chronic diarrhea, Increased circulating IgA level, Abdominal ... |
OMIM:260920 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Nausea, Poor appetite, Dysphagia |
ORPHA:352447 |
| Kaposi Sarcoma |
|
Diarrhea, Skin rash, Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:33276 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Hypernatremia, Malab... |
OMIM:615508 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Rectal prolapse, Gastroesophageal reflux, Anorectal anomaly, Constipation, M... |
ORPHA:285 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Recurrent otitis media, Gastroesophageal reflux, Constipation, Hypercalcemia, Co... |
OMIM:194050 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Anti-thyroid peroxidase antibody ... |
ORPHA:525731 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal pancreatic duct morphology, Cleft palate,... |
ORPHA:1190 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Abdomi... |
ORPHA:98850 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss, Bronchiectasis |
ORPHA:411703 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Chronic oral candidiasis, Diarrhea, Thyroiditis, Eczematoid dermatitis, Sin... |
ORPHA:83471 |
| Rat-Bite Fever |
|
Morbilliform rash, Myocarditis, Pancreatitis, Diarrhea, Arthritis, Parotitis, Skin rash, Lymphade... |
ORPHA:31205 |
| Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption |
ORPHA:309108 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Botulism |
|
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia |
ORPHA:1267 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Protein-losing enteropathy, Developmental cataract, Splenomegaly, Lacunar stroke, C... |
OMIM:618440 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le... |
OMIM:620565 |
| Fetal Cytomegalovirus Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Hepatitis |
ORPHA:294 |
| Tempi Syndrome |
|
Increased circulating IgG level, Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... |
ORPHA:3202 |
| Erythermalgia, Primary |
|
Diarrhea, Keratoconjunctivitis sicca, Xerostomia, Constipation |
OMIM:133020 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Aortic regurgitation, Corneal opacity, Pulmonary arterial hypertension, Splenomegal... |
OMIM:607015 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Rectal prolapse, High palate |
OMIM:303600 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Inflammation of the large int... |
ORPHA:29207 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Pericarditis, Weight loss |
ORPHA:188 |
| Mucopolysaccharidosis, Type Iiia |
|
Dense calvaria, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252900 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... |
OMIM:603554 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly |
OMIM:613027 |
| Transaldolase Deficiency |
|
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenomegaly, Micronodular cir... |
OMIM:606003 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Cachexia, Diarrhea, Vomiting |
ORPHA:42 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Dyspepsia, Abnorma... |
ORPHA:85450 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux |
OMIM:109350 |
| Good Syndrome |
|
Diarrhea, Decreased circulating antibody level, Sinusitis, Dysphagia, Bronchiectasis, Recurrent s... |
ORPHA:169105 |
| Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:602473 |
| Elliptocytosis 1 |
|
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Felty Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... |
ORPHA:47612 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... |
ORPHA:90033 |
| Cog4-Cdg |
|
Intermittent diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, F... |
ORPHA:263501 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Pancreatitis, Failure to thrive in infancy |
OMIM:618805 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Elevated circulating C-reactive protein concentration, Myeloproliferative disorder, Inflammation ... |
ORPHA:70591 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Diarrhea, Vomiting, Failure to thrive, Feeding difficu... |
ORPHA:79325 |
| Porphyria, Acute Intermittent |
|
Diarrhea, Abdominal pain, Hepatocellular carcinoma, Vomiting, Nausea, Constipation, Paralytic ileus |
OMIM:176000 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Diarrhea |
ORPHA:49827 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Diffuse telangiectasia, High palate, Prolonged neonatal jaundice, Thrombocy... |
OMIM:170100 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... |
ORPHA:449432 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... |
OMIM:233710 |
| Foodborne Botulism |
|
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia |
ORPHA:228371 |
| Mucopolysaccharidosis Type 7 |
|
Epiphyseal stippling, Corneal opacity, Ascites, Splenomegaly, Hepatitis |
ORPHA:584 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... |
OMIM:613673 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... |
ORPHA:2538 |
| Paroxysmal Cold Hemoglobinuria |
|
Diarrhea, Nausea and vomiting, Autoimmune hemolytic anemia |
ORPHA:90035 |
| Mednik Syndrome |
|
Increased circulating very long-chain fatty acid concentration, Diarrhea, Microcolon, Volvulus, J... |
OMIM:609313 |
| Pancreatic Agenesis 2 |
|
Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Periodontitis, Decreased level of plasminogen, Nephritis, Conjunctivitis |
OMIM:217090 |
| Multiple Sulfatase Deficiency |
|
Cataract, Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:585 |
| Hyperprolinemia Type 2 |
|
Diarrhea, Abdominal pain, Dysphagia, Feeding difficulties |
ORPHA:79101 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia, Hypophos... |
OMIM:600740 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, High palate, Exocrine panc... |
OMIM:617941 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Protein-losing enteropathy, Diarrhea, Chro... |
OMIM:614162 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... |
OMIM:233690 |
| Mevalonic Aciduria |
|
Morbilliform rash, Diarrhea, Skin rash, Increased circulating IgD level, Vomiting, Failure to thr... |
OMIM:610377 |
| Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:212140 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Cranial hyperostosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Osteopetros... |
OMIM:259720 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
| Intestinal Botulism |
|
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia |
ORPHA:178481 |
| Feingold Syndrome 1 |
|
Annular pancreas, Gastrointestinal atresia, Esophageal atresia, Accessory spleen, High palate, Tr... |
OMIM:164280 |
| Chronic Granulomatous Disease |
|
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten... |
ORPHA:379 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Opacification of the cor... |
OMIM:231005 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... |
ORPHA:64744 |
| Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
| Omenn Syndrome |
|
Chronic diarrhea, Thyroiditis, Erythroderma, Failure to thrive, Pneumonia, Autoimmunity |
ORPHA:39041 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... |
OMIM:224120 |
| Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormal intestine morphology, Abnormally ossified vertebrae, Cleft palate, Pancrea... |
ORPHA:1318 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ... |
ORPHA:169090 |
| Whipple Disease |
|
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Cachexia, Arthritis... |
ORPHA:3452 |
| Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... |
ORPHA:103918 |
| Agammaglobulinemia, X-Linked |
|
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... |
OMIM:300755 |
| B4Galt1-Cdg |
|
Diarrhea, Inflammatory abnormality of the skin, Small for gestational age |
ORPHA:79332 |
| Pachydermoperiostosis |
|
Peptic ulcer, Gastrointestinal hemorrhage, Anemia, Seborrheic dermatitis, Arthritis, Eczematoid d... |
ORPHA:2796 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Jaundice, Hepatomegaly, Osteolysis, Cholelithiasis, Increased fecal coproporphyrin 1,... |
OMIM:263700 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Diarrhea, Vomiting, Failure to thrive, Feeding difficulties, Tubulointerstitial nep... |
OMIM:251000 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... |
ORPHA:465508 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone miner... |
OMIM:259700 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Prolonged QT interval, Ileus, Bradycardia, Atrial fibrillation, Osteopo... |
OMIM:613327 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating interleukin 6 concentration |
OMIM:614034 |
| Familial Pancreatic Carcinoma |
|
Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Co... |
ORPHA:1333 |
| Lissencephaly, X-Linked, 2 |
|
Diarrhea, High palate, Feeding difficulties in infancy |
OMIM:300215 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent aphthous stomatitis, Arteritis, Chronic diarrhea, Complete or near-complete absence of ... |
OMIM:233600 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of the rectum, Stomach cancer, Ab... |
ORPHA:440437 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Weight loss |
ORPHA:1332 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media |
OMIM:617475 |
| Legionnaires Disease |
|
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P... |
ORPHA:549 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Gastrointestinal inflammation, Steatorrhea, Abdominal d... |
ORPHA:186 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Esophageal varix, Chole... |
ORPHA:264580 |
| Aceruloplasminemia |
|
Congestive heart failure, Hypochromic microcytic anemia, Abnormal pancreas morphology, Elevated h... |
ORPHA:48818 |
| Plague |
|
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Glossitis, Acute infectiou... |
ORPHA:707 |
| Fryns Syndrome |
|
Stillbirth, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intesti... |
OMIM:229850 |
| Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive, High palate |
OMIM:620310 |
| Inhalational Botulism |
|
Diarrhea, Nausea and vomiting, Xerostomia, Constipation |
ORPHA:254504 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:2314 |
| Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Bowel urgency, Midgut malrotation, Hypoactive bowel sounds, Episodic abdominal pain, Me... |
ORPHA:100079 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Sitosterolemia 1 |
|
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reti... |
OMIM:210250 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... |
OMIM:300908 |
| Methanol Poisoning |
|
Diarrhea, Abdominal pain, Vomiting |
ORPHA:31825 |
| Alg1-Cdg |
|
Decreased liver function, Chronic diarrhea, Protein-losing enteropathy, Abnormality of the gastro... |
ORPHA:79327 |
| Riddle Syndrome |
|
Diarrhea, Abdominal pain, Arthritis, Decreased circulating IgG level, Recurrent sinusitis, Recurr... |
ORPHA:420741 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension |
OMIM:612387 |
| Ppoma |
|
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... |
ORPHA:97278 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Chronic diarrhea, Cachexia, Malabsorption |
ORPHA:3217 |
| Classic Galactosemia |
|
Diarrhea, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis |
OMIM:612852 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia |
OMIM:618398 |
| Aa Amyloidosis |
|
Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption, Malnutrition |
ORPHA:85445 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Erythroderma, Vomiting, Malnutrition |
ORPHA:79456 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat... |
ORPHA:508533 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Vasculitis, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopen... |
ORPHA:1572 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:619183 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... |
ORPHA:330015 |
| Hereditary Spherocytosis |
|
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Esophagitis, Gastroesophageal reflux, Feeding difficulties |
ORPHA:79350 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Antiphospholipid antibody positivity, Decreased circulating antibody ... |
ORPHA:227990 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malrotation, Volvulu... |
OMIM:115470 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Failure to thrive |
OMIM:619484 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation, Osteoarthritis, Septic arthritis, Osteomyelitis |
OMIM:608654 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Abdominal distention, Gastrointestinal atresia, Rectal abscess, Peri... |
ORPHA:436252 |
| Systemic Sclerosis |
|
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, A... |
ORPHA:90291 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia |
OMIM:608885 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Macroglossia, Splenomegaly |
ORPHA:583 |
| Chediak-Higashi Syndrome |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax... |
OMIM:214500 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis |
OMIM:618641 |
| Meckel Syndrome, Type 7 |
|
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Aortic valve stenos... |
OMIM:267010 |
| Acrodermatitis Enteropathica |
|
Anorexia, Cheilitis, Glossitis, Chronic diarrhea, Furrowed tongue, Failure to thrive, Poor appeti... |
ORPHA:37 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Microcornea, Zonular cataract, High palate, Osteoporosis, Cataract, Cryptorchid... |
OMIM:268400 |
| Microvillus Inclusion Disease |
|
Diarrhea, Abdominal distention, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
| Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Parathyroid carcinoma, Diarrhea, Testicular neoplasm, Pituitary growth hormone cell... |
ORPHA:276152 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis, Intractable diarrhea |
OMIM:609536 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... |
OMIM:306400 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Skin rash, Nausea and vomiting |
ORPHA:99828 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Colon cancer,... |
ORPHA:480536 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:620040 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis, Hepatitis, Vomiting, Nause... |
ORPHA:36234 |
| Isolated Biliary Atresia |
|
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... |
ORPHA:30391 |
| Microsporidiosis |
|
Intermittent diarrhea, Chronic diarrhea, Cachexia, Sinusitis, Anorexia, Myocarditis, Cholangitis,... |
ORPHA:2552 |
| Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Vomiting, Pseudobulbar paralysis |
ORPHA:449285 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abdominal pain, Weight loss |
ORPHA:54251 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Diarrhea, Vomiting, Decreased circulating IgG level, Failure to thrive, Pericarditis... |
OMIM:212065 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... |
OMIM:607626 |
| Sandifer Syndrome |
|
Hematemesis, Anemia, Gastroesophageal reflux, Episodic vomiting, Esophagitis, Feeding difficultie... |
ORPHA:71272 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... |
OMIM:256040 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Episodic abdominal pain, Vomiting, Constipation, Failure to thrive, Weight loss |
ORPHA:361 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash |
OMIM:601979 |
| Familial Mediterranean Fever |
|
Diarrhea, Crohn's disease, Abdominal pain, Arthritis, Episodic abdominal pain, Vomiting, Pericard... |
OMIM:249100 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Increased circulating antibody level, Diarrhea, Arthritis, Skin rash, Bloody diarrhe... |
OMIM:615846 |
| Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain, Failure to thrive, Weight loss |
OMIM:256700 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Increased circulating interleukin 6 concentration, Melena, Acute tubulointerstitial ... |
ORPHA:340 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... |
ORPHA:456312 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl... |
ORPHA:731 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Antiphospholipid antibody positivity, Decreased circulating antibody ... |
ORPHA:227982 |
| Alveolar Echinococcosis |
|
Jaundice, Anemia, Cholangitis, Liver abscess, Bone cyst, Abnormal spleen morphology, Biliary cirr... |
ORPHA:284 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Pancreatitis, Pancreatic adenocarcinoma, Testicular neoplasm, Episodic abdominal pa... |
ORPHA:99880 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat... |
OMIM:602782 |
| Dyskeratosis Congenita |
|
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Abnormal testis mor... |
ORPHA:1775 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula |
ORPHA:3016 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Acute myeloid leukemia, Neoplasm of the rectum, Stoma... |
ORPHA:524 |
| Dpm1-Cdg |
|
Diarrhea, Failure to thrive, High, narrow palate, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Hepatomegaly, Delayed epiphyseal ossification, Cardiomyopathy, Leukocytosis, Splenomegal... |
ORPHA:289157 |
| Jacobsen Syndrome |
|
Annular pancreas, Duodenal atresia, Microcornea, Ectopic anus, Aortic valve stenosis, Bone marrow... |
ORPHA:2308 |
| Immunodeficiency 91 And Hyperinflammation |
|
Intermittent diarrhea, Failure to thrive, Recurrent pneumonia, Acute hepatic failure, Membranopro... |
OMIM:619644 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... |
ORPHA:71493 |
| Parathyroid Carcinoma |
|
Peptic ulcer, Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Episodic abdominal pain, ... |
ORPHA:143 |
| Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Episodic vomiting, Abdominal pain, Ileoileal intussusception, ... |
OMIM:619377 |
| Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis, Autoimmunity, Tubulointerstitial ne... |
OMIM:270150 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Large for gestational age, Increased body weight, Vomiting |
ORPHA:263455 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis, Constipation, V... |
ORPHA:32960 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
| Bohring-Opitz Syndrome |
|
Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Unilater... |
OMIM:605039 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... |
ORPHA:829 |
| Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
| Grfoma |
|
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... |
ORPHA:97261 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Inflammatory abnormality of the skin, Vomiting |
OMIM:610768 |
| Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... |
ORPHA:275761 |
| Glucagonoma |
|
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Stomatitis, Diarrhea,... |
ORPHA:97280 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... |
OMIM:257220 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, High palate, Hypoplasia of the thym... |
OMIM:612541 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Heterochromia iridis, Microcolon, Splenomegaly, Arrhythmia, ... |
ORPHA:163746 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Annular pancreas, Esophageal atresia, Right-to-left shunt, Meckel divert... |
OMIM:265380 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Weight loss, Neoplasm ... |
ORPHA:100085 |
| Somatostatinoma |
|
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Diarrhea, Neoplasm of... |
ORPHA:97283 |
| Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Weight loss, Gastrointestinal dysmot... |
ORPHA:330001 |
| Carcinoid Syndrome |
|
Lack of bowel sounds, Episodic abdominal pain, Small intestine carcinoid, Nausea and vomiting, Pr... |
ORPHA:100093 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Diarrhea, Abdominal pain, Ski... |
ORPHA:342 |
| 8P11.2 Deletion Syndrome |
|
Microcornea, Spherocytosis, High palate, Splenomegaly, Cryptorchidism, Hemolytic anemia, Iris col... |
ORPHA:251066 |
| Avian Influenza |
|
Myelitis, Diarrhea, Abdominal pain, Vomiting, Conjunctivitis, Pneumonia, Hepatitis, Infectious en... |
ORPHA:454836 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Lymphadenopathy, Conjunctivitis, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, Anal stenosis, Diarrhe... |
OMIM:251260 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Decreased circulating IgG level, Malabsorption, Erythro... |
OMIM:601675 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Episodic abdominal pain, Hype... |
ORPHA:405 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1 |
OMIM:300953 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone... |
ORPHA:652 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Lip telangiectasia, Cholestasis... |
OMIM:613471 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... |
OMIM:300972 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... |
OMIM:208900 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Abnormal leukocyte morphology, Skin rash, Hypopro... |
ORPHA:167 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Jaundice, Early ossification of capital femoral epiphyses, Bile duct pro... |
OMIM:208500 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased... |
OMIM:612301 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Acute Adrenal Insufficiency |
|
Anorexia, Diarrhea, Abdominal pain, Constipation, Failure to thrive, Weight loss, Nausea and vomi... |
ORPHA:95409 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:606056 |
| Familial Hypoaldosteronism |
|
Diarrhea, Nausea and vomiting, Failure to thrive, Feeding difficulties |
ORPHA:427 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Hypertension, Esophageal varix, ... |
OMIM:615688 |
| Jacobsen Syndrome |
|
Annular pancreas, Microcornea, Pyloric stenosis, Thrombocytopenia, Cryptorchidism, Iris coloboma |
OMIM:147791 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Intermittent diarrhea, Diarrhea, High palate, Constipation, Failure to thrive, Feeding difficulti... |
OMIM:618050 |
| Hereditary Angioedema Type 1 |
|
Abnormal soft palate morphology, Diarrhea, Abdominal pain, Abnormal uvula morphology, Vomiting, N... |
ORPHA:100050 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Sclerosis of skull base, Annular pancreas, High palate, Delayed pubic bone ossification |
OMIM:618162 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr... |
ORPHA:116 |
| Hardikar Syndrome |
|
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Hypertension, Cholestasis... |
OMIM:301068 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Epistaxis, Stomatocytosis, Hemoly... |
OMIM:153670 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Bowel urgency, Poor appetite, Weight loss, Pneumonia, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
| Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... |
ORPHA:288 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibros... |
OMIM:616263 |
| Hereditary Fructose Intolerance |
|
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... |
ORPHA:469 |
| Ciliary Dyskinesia, Primary, 1 |
|
Abnormal cornea morphology, Asplenia |
OMIM:244400 |
| Ileal Neuroendocrine Tumor |
|
Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Small intestine carcinoid, Nau... |
ORPHA:100078 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Superficial dermal perivascular inflammatory infiltrate, V... |
ORPHA:324636 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane... |
OMIM:615512 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Aganglionic megacolon, Diarrhea, High palate, Constipation, Colonic divertic... |
OMIM:162300 |
| Familial Tumoral Calcinosis |
|
Hyperostosis, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
| Tyrosinemia, Type I |
|
Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena, Hypophosphatemic rickets, E... |
OMIM:276700 |
| Mogs-Cdg |
|
Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplenomegaly, Thromb... |
ORPHA:79330 |
| Fraser Syndrome 2 |
|
Abdominal distention, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Rectal atresia |
OMIM:617666 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Abdominal pain, Acute hepatic failure, Dysph... |
ORPHA:36426 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Cleft palate, S... |
OMIM:270420 |
| Addison Disease |
|
Anorexia, Diarrhea, Abdominal pain, Celiac disease, Constipation, Hashimoto thyroiditis, Failure ... |
ORPHA:85138 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Steatorrhea, Vomiting |
OMIM:605911 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tracheoesophageal ... |
OMIM:227646 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati... |
ORPHA:2241 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic oral candidiasis, Chronic active hepatitis, Diarrhea, Chronic mucocutaneous candidiasis, ... |
OMIM:240300 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Rectal prolapse, Aganglionic megacolon, Recurrent otitis media, High palate,... |
OMIM:309800 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Gastroesophageal reflux, Hypertension, High palate, Splenomegaly, Dysphagia, Cataract |
OMIM:617913 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Gastroesophageal reflux, Megaloblastic anemia, Esophagitis, Hypoglycinemia, Vomiti... |
ORPHA:79351 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Poor appetite |
OMIM:201100 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Diarrhea, Atopic dermatitis, Vomiting |
ORPHA:3240 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Feeding difficulties in infancy |
ORPHA:71212 |
| Biotinidase Deficiency |
|
Diarrhea, Seborrheic dermatitis, Skin rash, Vomiting, Conjunctivitis, Recurrent skin infections, ... |
OMIM:253260 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:260370 |
| 19P13.13 Microdeletion Syndrome |
|
Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, High palate, Vomi... |
ORPHA:357001 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Corneal ulceration, Keratoconjunctivitis, Osteoporosis, Increased fecal porphyrin, Sp... |
ORPHA:95159 |
| Young-Onset Parkinson Disease |
|
Diarrhea, Nausea, Gastroparesis, Constipation |
ORPHA:2828 |
| Yellow Fever |
|
Hematemesis, Increased circulating interleukin 6 concentration, Diarrhea, Abdominal pain, Skin ra... |
ORPHA:99829 |
| Trisomy 8P |
|
Annular pancreas, Astigmatism, Heterochromia iridis, Bifid uvula, Cleft palate, Heart murmur, Mal... |
ORPHA:264450 |
| Relapsing Fever |
|
Diarrhea, Abdominal pain, Vomiting |
ORPHA:91547 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Esophagitis, Hepatosplenomegaly, Feeding difficulties, Decreased serum zinc, Hepatic failure |
ORPHA:541423 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... |
ORPHA:75565 |
| Waldenström Macroglobulinemia |
|
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Monoclonal immunoglobulin M prote... |
ORPHA:33226 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Abdominal distention, Abnormality of the gastrointestinal tract, Oral-pharyngeal dyspha... |
ORPHA:2131 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:607143 |
| Citrullinemia Type Ii |
|
Decreased body mass index, Pancreatitis, Diarrhea, Hepatocellular carcinoma, Vomiting |
ORPHA:247585 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... |
OMIM:611881 |
| Fabry Disease |
|
Diarrhea, Abdominal pain, Vomiting, Nausea, Tenesmus |
OMIM:301500 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal testis morphology, Abnormal rectum morphology, Feeding difficulties, Abnormality of the ... |
ORPHA:2556 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Gastroesophageal reflux, Chronic diarrhea, Poor suck, Failure to thrive, Chronic constipation, Ov... |
ORPHA:500055 |
| Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Cryptorchidism... |
OMIM:617137 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Feeding difficulties in infancy |
OMIM:223900 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Vomiting |
ORPHA:134 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Acute Radiation Syndrome |
|
Diarrhea, Interstitial pneumonitis, Inflammatory abnormality of the skin, Vomiting |
ORPHA:454831 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Melena, Diarrhea, Abdominal pain, Adenomatous colonic polyposis, Vomiting, ... |
ORPHA:99818 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ... |
ORPHA:565612 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Gastroesophageal reflux, High palate, Pulmonary arterial hypertension, Abn... |
ORPHA:93932 |
| Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Cleft ... |
OMIM:612562 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Periodontitis, Abnormality of the ovary, Cervicitis, Decreased level of plasminogen |
ORPHA:722 |
| Malakoplakia |
|
Neoplasm of the rectum, Diarrhea, Abdominal pain, Skin rash, Inflammatory abnormality of the skin... |
ORPHA:556 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Intestinal malrotation, Cleft palate, Microglossia, Hepatic fibrosis, Pa... |
OMIM:263520 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Diarrhea, Fulminant hepatitis, Skin rash, Vomiting, Nausea, Abdominal cramps, Rhinit... |
ORPHA:319213 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Diarrhea, Increased body weight, Hepatocellular carcinoma, Vomiting, Nausea |
ORPHA:79240 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Sunflower cataract, Hypoparathyroidis... |
OMIM:277900 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Episodic vomiting, Constipation |
OMIM:105210 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Hepatomegaly, Esophageal varix, Portal hypertension, Hypertrophic cardiomyopathy, Coppe... |
ORPHA:309854 |
| Lysinuric Protein Intolerance |
|
Steatorrhea, Pancreatitis, Increased circulating antibody level, Diarrhea, Decreased circulating ... |
ORPHA:470 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
| 1P36 Deletion Syndrome |
|
Annular pancreas, Gastroesophageal reflux, Ocular albinism, Abnormal intestine morphology, Catara... |
ORPHA:1606 |
| Infantile Systemic Hyalinosis |
|
Steatorrhea, Abnormality of the gastrointestinal tract, Chronic diarrhea, Failure to thrive, Mala... |
ORPHA:2176 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Cleft palate, Developmental cataract, Ankyloglossia |
ORPHA:488642 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Recurrent otitis media, Gastroesophageal reflux, Chronic diarrhea, Vomiting... |
OMIM:620233 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Decreased body weight, Fat malabsorption, Malnutrition |
ORPHA:96180 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal po... |
ORPHA:447877 |
| Acute Intermittent Porphyria |
|
Abdominal distention, Diarrhea, Abdominal pain, Hepatocellular carcinoma, Constipation, Nausea an... |
ORPHA:79276 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Decreased circulating antibody level, Hematochezia, Feeding difficult... |
OMIM:618183 |
| Japanese Encephalitis |
|
Anorexia, Increased circulating antibody level, Diarrhea, Abdominal pain, Vomiting, Increased cir... |
ORPHA:79139 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Corneal ulceration, Increased fecal coproporphyrin 1, Keratoconjunctivitis, Osteoporo... |
ORPHA:79277 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy, Stomach cancer, Diarrhea, Abdominal pain... |
ORPHA:2929 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Aganglionic megacolon, Abnormality... |
ORPHA:110 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv... |
ORPHA:99827 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Narrow palate, Recurrent otitis media, Severe periodontitis, Chronic diarrhea, Protruding tongue,... |
ORPHA:99843 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent otitis media, Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia |
OMIM:309900 |
| Nephronophthisis 13 |
|
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts |
OMIM:614377 |
| Igg4-Related Kidney Disease |
|
Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci... |
ORPHA:449395 |
| Lysinuric Protein Intolerance |
|
Pancreatitis, Protein avoidance, Diarrhea, Vomiting, Nausea, Failure to thrive, Malnutrition, Tru... |
OMIM:222700 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation |
OMIM:608643 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Hepatic failure, Microcolon |
OMIM:619431 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Episodic vomiting, Diarrhea, Reye syndrome-like episodes, Acute pancreatitis, Weight loss |
ORPHA:20 |
| Listeriosis |
|
Myocarditis, Pyelonephritis, Arteritis, Diarrhea, Abdominal pain, Vomiting, Nausea, Pericarditis,... |
ORPHA:533 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Rectovestibular fistula, Anal stenosis, Gastroesophageal reflux, High palate, Anal atresia, Bleph... |
ORPHA:280633 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Gastroesophageal reflux, High palate, Furrowed tongue, Cryptorchidism, Peters a... |
OMIM:616975 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Abnormality o... |
ORPHA:50918 |
| Congenital Syphilis |
|
Myocarditis, Pancreatitis, Diarrhea, High palate, Synovitis, Rhinitis, Keratitis, Malabsorption, ... |
ORPHA:499009 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Cranial hyperostosis, Splenomegaly |
OMIM:612918 |
| Meconium Ileus |
|
Chronic diarrhea, Meconium ileus, Microcolon |
OMIM:614665 |
| Phoar2-Enteropathy Syndrome |
|
Seborrheic dermatitis, Secretory diarrhea, Acne |
OMIM:614441 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Skin rash, Vomiting, Episodic vomiting |
OMIM:618321 |
| Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
| Cholera |
|
Diarrhea, Abdominal pain, Aspiration pneumonia, Vomiting, Abdominal cramps, Achlorhydria |
ORPHA:173 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
| Distal Deletion 12Q |
|
Annular pancreas, High, narrow palate, Esophageal atresia, Biliary atresia, Unilateral cryptorchi... |
ORPHA:96149 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Chronic diarrhea, Decreased body weight, Aspiration pneumonia, Achalasia... |
OMIM:617053 |
| Senior-Loken Syndrome 8 |
|
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts |
OMIM:616307 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Abdominal distention, Diarrhea, Hepatocellular carcinoma, Reye syndrome-like episodes, Vomiting, ... |
OMIM:256810 |
| Melas |
|
Intestinal pseudo-obstruction, Diarrhea, Recurrent pancreatitis, Constipation, Vomiting, Failure ... |
ORPHA:550 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Multiple Myeloma |
|
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... |
ORPHA:29073 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Abnormality of the gastrointestinal tract, Pancreatitis, Increased circulating antibody... |
ORPHA:99826 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Diarrhea, High palate, Vomiting, Feeding difficulties in infancy |
OMIM:608836 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea... |
OMIM:210900 |
| Carney Triad |
|
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Gastrointestinal stroma tumor, N... |
ORPHA:139411 |
| Mismatch Repair Cancer Syndrome 3 |
|
Colon cancer, Neoplasm of the rectum |
OMIM:619097 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Diarrhea, Reye syndrome-like episodes, Vomiting |
ORPHA:348 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Cleft hard palate, Recurrent otitis media, Decreased circulating antibody ... |
ORPHA:2152 |
| Esophageal Atresia |
|
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e... |
ORPHA:1199 |
| Chronic Graft Versus Host Disease |
|
Anorexia, Fasciitis, Abnormal esophagus physiology, Keratoconjunctivitis sicca, Gastroesophageal ... |
ORPHA:99921 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Decreased circulating IgG level, Failure to thrive, Feeding difficulties |
OMIM:618278 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-... |
ORPHA:125 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Rectovaginal fistula, Monorchism, Perineal fistula, Anal atresia, Decreased ... |
ORPHA:2753 |
| Cockayne Syndrome Type 1 |
|
Diarrhea, Failure to thrive, Uveitis, Conjunctivitis |
ORPHA:90321 |
| Serotonin Syndrome |
|
Diarrhea, Nausea, Hepatic failure |
ORPHA:43116 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... |
ORPHA:93111 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Decreased circulating antibody level, Poor appetite, Failu... |
ORPHA:247598 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea, Failure to thrive, Esophageal stricture, Oral leukoplakia |
OMIM:613989 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Polycythemia, Pancr... |
OMIM:193300 |
| Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Villous atrophy, Decreased circulating antibody level, Failure to thrive, B... |
OMIM:222470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Esophagitis, Achalasia, Elevated circulating creatine kinase concentration, Feeding difficulties |
OMIM:615356 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Anal fissure, Bloody diarrhea, Recurrent bacterial skin infections, Blepharitis, Pustule, Recurre... |
ORPHA:294023 |
| Dubowitz Syndrome |
|
Episodic vomiting, Gastroesophageal reflux, Chronic diarrhea, High palate, Eczematoid dermatitis,... |
OMIM:223370 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Bradycardia, Cleft palate, Cardiomegaly |
ORPHA:97297 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Microcolon, Peritonitis, Pyelonephritis |
OMIM:619351 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Liver abscess, Decreased specific pneumococcal antibody level, Decreased circulating IgG level, D... |
ORPHA:183675 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer, Ovarian cyst, Pancreatic ade... |
ORPHA:454840 |
| Lynch Syndrome |
|
Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo... |
ORPHA:144 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop... |
OMIM:620005 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hepatomegaly, Cystic angiomatosis of bone, Acute pancreatitis, Cardiomyopathy, Splenom... |
OMIM:608594 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Failure to thrive, Dysphagia, Feeding difficulties |
OMIM:620358 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99226 |
| Turner Syndrome |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:881 |
| Trichohepatoneurodevelopmental Syndrome |
|
Decreased liver function, Steatorrhea, Recurrent otitis media, Gastroesophageal reflux, Chronic d... |
OMIM:618268 |
| Blau Syndrome |
|
Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Hypertensio... |
ORPHA:90340 |
| Distal Renal Tubular Acidosis |
|
Diarrhea, Vomiting, Failure to thrive, Poor appetite, Constipation |
ORPHA:18 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Diarrhea, Episodic vomiting |
OMIM:246450 |
| Mucopolysaccharidosis, Type Iiid |
|
Recurrent otitis media, Tube feeding, Diarrhea, Dysphagia, Macroglossia |
OMIM:252940 |
| Colchicine Poisoning |
|
Diarrhea, Nausea, Myocarditis, Vomiting |
ORPHA:31824 |
| Farber Disease |
|
Chronic diarrhea, Arthritis, Failure to thrive, Feeding difficulties, Hepatic failure |
ORPHA:333 |
| Imerslund-Grasbeck Syndrome 2 |
|
Diarrhea |
OMIM:618882 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Secretory diarrhea, Acne |
OMIM:167100 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Rhinitis, Vomiting |
ORPHA:230 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... |
OMIM:617062 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level |
ORPHA:449563 |
| Vipoma |
|
Anorexia, Episodic abdominal pain, Abnormal gastrointestinal motility, Poor appetite, Secretory d... |
ORPHA:97282 |
| Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Anemia |
OMIM:208060 |
| Digeorge Syndrome |
|
High, narrow palate, Anemia, Cholelithiasis, Gastroesophageal reflux, High palate, Hypoplasia of ... |
OMIM:188400 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hypertension, Pituitary growth hormone cell adenoma, Polycystic liver disease, H... |
ORPHA:730 |
| Rothmund-Thomson Syndrome |
|
Diarrhea, Malar rash, Skin rash, Vomiting, Nasogastric tube feeding in infancy, Small for gestati... |
ORPHA:2909 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Adrenal pheochromocyto... |
ORPHA:892 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Osteoporosis, ... |
ORPHA:77293 |
| Neuroblastoma |
|
Abdominal distention, Chronic diarrhea, Weight loss |
ORPHA:635 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Melena, Abnormal gastrointestinal tract morphology, Blo... |
ORPHA:464321 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Aganglionic megacolon, Macroglossia, High palate, Dysphagia, Sclerosis of skull... |
ORPHA:798 |
| Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Chronic diarrhea, Vomiting, Chronic hepatitis, Bifid uvula, Cleft palate,... |
OMIM:614921 |
| Kawasaki Disease |
|
Myocarditis, Cheilitis, Diarrhea, Abdominal pain, Skin rash, Glossitis, Arthritis, Pericarditis, ... |
ORPHA:2331 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... |
ORPHA:109 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Chronic diarrhea, Submucous cleft hard palate, High palate |
ORPHA:457279 |
| Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, High palate, Vomiting, Cleft pala... |
ORPHA:221016 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... |
OMIM:137920 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Anal stenosis, Anorectal anomaly, Chronic diarrhea, Cachexia, Anal a... |
ORPHA:647 |
| Gitelman Syndrome |
|
Diarrhea, Abdominal pain, Constipation, Hashimoto thyroiditis, Failure to thrive, Gout, Nausea an... |
ORPHA:358 |
| Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Nasogastric tube feedin... |
ORPHA:221008 |
| Chikungunya |
|
Diarrhea, Arthritis, Skin rash, Synovitis, Vomiting, Enthesitis, Infectious encephalitis, Erythem... |
ORPHA:324625 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic diarrhea, High palate, Decreased body weight, Chronic constipation |
OMIM:619005 |
| Sandhoff Disease |
|
Chronic diarrhea, Macroglossia, Episodic abdominal pain |
OMIM:268800 |
| Deeah Syndrome |
|
Narrow palate, Chronic diarrhea, Decreased body weight, High palate, Exocrine pancreatic insuffic... |
OMIM:619004 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Chronic constipation |
OMIM:618333 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Abdominal distention, Gastrointestinal inflammation, Keratoconjunctivitis sicca, Oral-p... |
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, Anoperineal fistula, Abnormal tongue morphology, Chronic diarrhea, Failure to thrive, ... |
ORPHA:158668 |
| Alg9-Cdg |
|
Gastroesophageal reflux, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
ORPHA:79328 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Multiple Endocrine Neoplasia Type 2 |
|
Abdominal distention, Aganglionic megacolon, Abnormal tongue morphology, Ganglioneuromatosis, Dia... |
ORPHA:653 |
| Bartter Syndrome, Type 1, Antenatal |
|
Diarrhea, Vomiting, Failure to thrive, Constipation, Small for gestational age |
OMIM:601678 |
| Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Pancreatitis, Hepatocellular carcinoma, Gout, Protuberant abdomen |
OMIM:232200 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
| Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
| Abetalipoproteinemia |
|
Steatorrhea, Chronic diarrhea, Vomiting, Failure to thrive, Fat malabsorption, Keratoconjunctivit... |
ORPHA:14 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, Ankyloglossia,... |
OMIM:615873 |
| Mucopolysaccharidosis Type 3 |
|
Chronic otitis media, Intermittent diarrhea, Aspiration pneumonia, Constipation, Malabsorption, D... |
ORPHA:581 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Vomiting, Failure to thrive, Dysphagia, Feeding difficulties, Recurrent pancreatitis, S... |
OMIM:606721 |
| Liver Disease, Severe Congenital |
|
Abdominal distention, Pneumonia, Recurrent otitis media, Protein-losing enteropathy, Diarrhea, Ch... |
OMIM:619991 |
| Bartter Syndrome, Type 2, Antenatal |
|
Diarrhea, Vomiting, Failure to thrive, Constipation, Small for gestational age |
OMIM:241200 |
| Ogden Syndrome |
|
Narrow palate, Recurrent otitis media, Tube feeding, Diarrhea, High palate, Eczematoid dermatitis... |
OMIM:300855 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Absent gallbladder, Colon perforation |
OMIM:600001 |
| Sacral Defect With Anterior Meningocele |
|
Constipation, Rectal abscess |
OMIM:600145 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Pulmonic... |
ORPHA:2255 |
| Proximal Renal Tubular Acidosis |
|
Diarrhea, Failure to thrive, Malabsorption, Vomiting |
ORPHA:47159 |
| Viss Syndrome |
|
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Inc... |
OMIM:619472 |
| Hurler Syndrome |
|
Chronic diarrhea, Rhinitis, Macroglossia, Feeding difficulties |
ORPHA:93473 |
| Nmda Receptor Encephalitis |
|
Diarrhea, Anti-NMDA receptor antibody positivity, CSF anti-NMDA receptor antibody positivity, Vom... |
ORPHA:217253 |
| Leptospirosis |
|
Anorexia, Diarrhea, Abdominal pain, Optic neuritis, Skin rash, Pericarditis, Nausea and vomiting,... |
ORPHA:509 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Diarrhea, Constipation, Colon cancer, A... |
ORPHA:273 |
| Spondyloocular Syndrome |
|
Duodenal ulcer, Unilateral cryptorchidism |
OMIM:605822 |
| Scorpion Envenomation |
|
Myocarditis, Diarrhea, Abdominal pain, Acute pancreatitis, Vomiting |
ORPHA:466677 |
| Penile Agenesis |
|
Rectal fistula, Anorectal anomaly, Anal atresia, Tracheoesophageal fistula, Cryptorchidism |
ORPHA:49 |
| Zttk Syndrome |
|
Intestinal atresia, Chronic diarrhea, High palate, Failure to thrive, Bifid uvula, Feeding diffic... |
OMIM:617140 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Chronic diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux |
ORPHA:3164 |
| African Trypanosomiasis |
|
Myocarditis, Iritis, Myelitis, Diarrhea, Optic neuritis, Vomiting, Nausea, Pericarditis, Keratiti... |
ORPHA:3385 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Gastroesophageal reflux, Chronic diarrhea, Decreased circulating IgG level, Bifid ... |
ORPHA:500150 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Vomiting, Nausea, Hepatitis |
ORPHA:90062 |
| Restrictive Dermopathy |
|
Submucous cleft hard palate, Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon |
ORPHA:1662 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Neoplasm of the stomach, Diarrhea, Increased body weight, Small intestine carcinoid, We... |
ORPHA:99889 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Cryptorchidis... |
OMIM:135900 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Carney Complex |
|
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... |
ORPHA:1359 |
| Occipital Horn Syndrome |
|
Chronic diarrhea, High palate, Hiatus hernia |
OMIM:304150 |
| Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Chronic diarrhea, Macroglossia, Arthritis |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Macroglossia, Hip osteoarthritis |
ORPHA:580 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Chronic diarrhea, Macroglossia, Arthritis |
ORPHA:217093 |
| Aspartylglucosaminuria |
|
Diarrhea, Macroglossia, Acne |
OMIM:208400 |
