| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Skin rash, Abscess, Autoimmune hemolytic an... |
OMIM:619374 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Immunodeficiency 46 |
|
Sepsis, Failure to thrive, Intermittent thrombocytopenia, Chronic diarrhea, Recurrent sinopulmona... |
OMIM:616740 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomiting,... |
ORPHA:2070 |
| Reticular Dysgenesis |
|
Sepsis, Diarrhea, Failure to thrive, Abnormality of neutrophils, Leukopenia, Malabsorption, Skin ... |
ORPHA:33355 |
| Immunodeficiency 108 With Autoinflammation |
|
Abdominal pain, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired ne... |
OMIM:260570 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Tenesmus, Anal fissure, Stercoral ulcer, Chronic constipation, Decreased body weigh... |
ORPHA:209964 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar... |
OMIM:619281 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... |
OMIM:615767 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... |
OMIM:619398 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... |
OMIM:617006 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abnormal circul... |
ORPHA:103910 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... |
OMIM:243150 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Recurrent respirat... |
OMIM:300635 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... |
ORPHA:436159 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... |
OMIM:617638 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... |
OMIM:618108 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... |
OMIM:618394 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Autosomal Agammaglobulinemia |
|
Sepsis, Diarrhea, Failure to thrive, Recurrent respiratory infections, Bronchiectasis, Hepatitis,... |
ORPHA:33110 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Sepsis, Failure to thrive, Abnormality of neutrophils, Abnormal lymphocyte m... |
ORPHA:229717 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B lymp... |
OMIM:619164 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Skin r... |
OMIM:617585 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... |
OMIM:617718 |
| Hirschsprung Disease |
|
Diarrhea, Sepsis, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tr... |
ORPHA:388 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcin... |
OMIM:174900 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr... |
ORPHA:70475 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... |
OMIM:613495 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... |
OMIM:620565 |
| Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... |
OMIM:226990 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Increased circulating IgE ... |
OMIM:243700 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... |
ORPHA:276 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... |
OMIM:175500 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Secondary Short Bowel Syndrome |
|
Sepsis, Diarrhea, Failure to thrive, Vomiting, Volvulus, Malnutrition, Malabsorption, Villous atr... |
ORPHA:95427 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,... |
OMIM:607594 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... |
ORPHA:169154 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Sepsis, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Hypocalc... |
ORPHA:47 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal fissure, Lymphopenia, ... |
OMIM:618935 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Failure... |
OMIM:615895 |
| Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... |
OMIM:608971 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Failure to thrive, Eczematoid dermati... |
OMIM:256500 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... |
OMIM:300400 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
| Pgm3-Cdg |
|
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... |
ORPHA:443811 |
| Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp... |
OMIM:601457 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Sepsis, Vomiting, Hepatitis, Abnormal ... |
ORPHA:319218 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower... |
OMIM:308230 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh... |
OMIM:616050 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Sepsis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthritis, Va... |
OMIM:620321 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Intractable diarrhea, Failure to thrive, Recurrent otitis media, Abs... |
OMIM:617475 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Polyarticular arthritis, Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positi... |
OMIM:616744 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... |
ORPHA:906 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... |
OMIM:619802 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... |
OMIM:607271 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... |
ORPHA:99886 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... |
OMIM:614878 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R... |
OMIM:615513 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis, Obesity |
ORPHA:88643 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... |
OMIM:618459 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage |
OMIM:277175 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100082 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Pancytopenia, Increased serum bile acid concentratio... |
ORPHA:811 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... |
ORPHA:326 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Increas... |
OMIM:301000 |
| Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage,... |
ORPHA:79076 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... |
ORPHA:810 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Aplasia of the thymus, Chronic otitis media, Eczematoid dermatitis, Recurrent candida i... |
ORPHA:83471 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Autoimmunity, Decreased circulating antibody level, Splenomega... |
ORPHA:397596 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Giant cell hepatitis, Failure to thrive, Hyperbilirubinemia, Prolo... |
OMIM:214950 |
| Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Sepsis, Decreased liver function, Cardiomyopathy, Ab... |
ORPHA:79327 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Increased ... |
OMIM:301074 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Cheilitis, Sepsis, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis,... |
ORPHA:247353 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic ... |
OMIM:600955 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Ab... |
OMIM:613501 |
| Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Sepsis, Recurrent skin infections |
OMIM:618847 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ... |
OMIM:612567 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Sepsis, Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Peri... |
ORPHA:2686 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Diffuse alveolar hemorrhage, Sepsis, Increased circulating interleukin 6 concentration... |
OMIM:614034 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Hepatitis, Hyperbilirubinemia, Spleno... |
OMIM:613812 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... |
ORPHA:47612 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... |
OMIM:300755 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... |
OMIM:619220 |
| Galactose Mutarotase Deficiency |
|
Hypergalactosemia, Sepsis, Failure to thrive, Decreased liver function |
ORPHA:570422 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:911 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti... |
OMIM:613502 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Sepsis, Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia... |
ORPHA:49566 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Sh... |
ORPHA:36234 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... |
ORPHA:464321 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... |
ORPHA:183675 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Nausea and vomiting, Hyperammonemia, Pancreatitis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:289916 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Osteoporosis, Ab... |
ORPHA:98848 |
| Aicardi-Goutieres Syndrome 7 |
|
Diarrhea, Pancytopenia, Chilblains, Increased circulating antibody level, Weight loss, Recurrent ... |
OMIM:615846 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Abnormal bleeding, Colon cancer, Refractory anemia, Adenomatous colonic polyposis, ... |
ORPHA:157794 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Purpura, Incre... |
ORPHA:540 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
| Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut... |
ORPHA:2494 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... |
ORPHA:73263 |
| Sepsis In Premature Infants |
|
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Elevated circulating C-reacti... |
ORPHA:90051 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Sepsis, Hypotension, Abnor... |
ORPHA:70578 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Impaired T... |
OMIM:240500 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... |
ORPHA:217390 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... |
ORPHA:26790 |
| Microlissencephaly |
|
Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss... |
ORPHA:1083 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... |
OMIM:300310 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... |
ORPHA:329971 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Pustule, Chron... |
ORPHA:3243 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Limitation of joint mobility, Lymphopenia, Abnormal pleura morphology, Eosinophilia, Arthritis |
ORPHA:2582 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... |
OMIM:618982 |
| Bullous Impetigo |
|
Pustule, Sepsis, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Mirage Syndrome |
|
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Aspiration pneumonia, Lympho... |
OMIM:617053 |
| Omenn Syndrome |
|
Pneumonia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly,... |
ORPHA:39041 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted ... |
ORPHA:169160 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,... |
ORPHA:873 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Sepsis, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocyto... |
OMIM:612840 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Failure to thrive in infancy, Hepatosplenomegaly, R... |
ORPHA:263501 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
| Immunodeficiency 27A |
|
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, In... |
OMIM:209950 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Esophagitis, Dysphagia, Chronic otitis media, Recurrent cutaneous abscess form... |
OMIM:618131 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Decreased ci... |
OMIM:619510 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Obesity, Nausea and vomiting, Feeding difficulties in... |
ORPHA:99976 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Sepsis, Hypotension, Hepatitis, Abnormal bleeding, Cardiomyopat... |
ORPHA:292 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... |
OMIM:616576 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| 5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hemato... |
OMIM:618183 |
| Avian Influenza |
|
Hypoalbuminemia, Pneumonia, Myelitis, Diarrhea, Sepsis, Vomiting, Hepatitis, Conjunctivitis, Cong... |
ORPHA:454836 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small ... |
ORPHA:2929 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Exoc... |
ORPHA:552 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... |
OMIM:613470 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, R... |
OMIM:618523 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
| Necrotizing Enterocolitis |
|
Hypotension, Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Shock, Leukocytosis, B... |
ORPHA:391673 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis |
OMIM:216950 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... |
ORPHA:231154 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Congestive heart failure, Leukocyt... |
ORPHA:67 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Polyarticular arthritis, Cel... |
OMIM:615952 |
| Lassa Fever |
|
Diarrhea, Sepsis, Abnormal bleeding, Shock, Nausea and vomiting, Conjunctivitis, Abdominal pain, ... |
ORPHA:99824 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypotension, Sepsis, Diarrhea, Failure to thrive, Celiac disease, Hepatitis, N... |
ORPHA:199299 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Chronic Granulomatous Disease |
|
Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Liver abscess, Malabsorption, Otitis m... |
ORPHA:379 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... |
OMIM:614470 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... |
OMIM:193670 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:324964 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio... |
ORPHA:331 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Recurrent viral infections, Failure to thrive, Hepatosplenomegaly, Colonic eos... |
OMIM:618999 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Villous a... |
OMIM:614602 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hypotension, Diarrhea, Sepsis, Hepatitis, Anorexia, Lymphopenia, Nau... |
ORPHA:549 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:612692 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... |
OMIM:615190 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... |
ORPHA:411696 |
| Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... |
OMIM:620532 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... |
ORPHA:51636 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra... |
ORPHA:3132 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... |
ORPHA:277 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Hematochezia, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
| Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Sepsis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myoc... |
ORPHA:31205 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Bronchitis, Malnutrition, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... |
OMIM:619126 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... |
OMIM:617780 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat... |
OMIM:619752 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Abnormality of neutrophils, Acute hepatic failure,... |
ORPHA:36426 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive... |
OMIM:619573 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Osteopenia, Antineutrophil antibody positivity, Diarrhea, Periodontitis, Aplastic anem... |
ORPHA:486 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Sepsis, Shock, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neut... |
ORPHA:36238 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Recurrent lower respiratory t... |
OMIM:612541 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc... |
OMIM:614576 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, ... |
ORPHA:572 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe... |
OMIM:614069 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Gastrointestinal hemorrh... |
ORPHA:2137 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Obesity, Prolonged prothrombin time, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sepsis, Acute hepatic failure, Malabsorption, Nausea and vomiting, A... |
ORPHA:537 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
| Meningococcal Meningitis |
|
Hypotension, Sepsis, Shock, Skin rash, Petechiae, Infectious encephalitis, Anorexia, Elevated cir... |
ORPHA:33475 |
| Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia, Anorexia, Leukemia, Abdom... |
ORPHA:98850 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... |
ORPHA:913 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... |
OMIM:618213 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic ane... |
OMIM:618495 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Linear Iga Dermatosis |
|
Epistaxis, Inflammation of the large intestine |
ORPHA:46488 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... |
OMIM:152700 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... |
OMIM:301220 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Increased proportion autoreactive unresponsive CD21-/low... |
OMIM:615559 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Nephritis, Recurrent pneumonia, Sepsis, Bone marrow hypocellularity, Congestive ... |
OMIM:617303 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... |
OMIM:308240 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis, Hyperglycinemia, Pulmonary arterial hypertension, Hyperalaninemia, Nasogastric tube feedi... |
OMIM:619059 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent aphthous stomatitis, Autoimmunity, Decreased circulati... |
ORPHA:275 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Increased circulating ... |
OMIM:610163 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor... |
OMIM:242860 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:610247 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Recurrent pharyngitis, Partial absence of specific antibody respo... |
ORPHA:79324 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Neuroendocrine Tumor Of Stomach |
|
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Right ventricular failure, Tricu... |
ORPHA:100075 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Failure to thrive, Recurrent otitis media, Chronic constipatio... |
OMIM:619575 |
| Caroli Syndrome |
|
Hepatic failure, Sepsis, Abnormal bleeding, Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukoc... |
ORPHA:480520 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... |
OMIM:618987 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Decreased ... |
OMIM:601495 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Melioidosis |
|
Pneumonia, Sepsis, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Ab... |
ORPHA:31202 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hyperammonemia, Hyperalaninemia, Neonatal sepsis, Recurrent infections, Feedin... |
OMIM:614739 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Pyomyositis |
|
Sepsis, Leukocytosis, Myositis, Weight loss, Recurrent infections, Sudden cardiac death, Recurren... |
ORPHA:764 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Nasogastric tube feeding... |
ORPHA:141152 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Increased circulating iron concentration, Increased mean corpuscular volume, I... |
ORPHA:98870 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr... |
ORPHA:100080 |
| Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Sepsis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, S... |
ORPHA:449280 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... |
OMIM:306400 |
| Classic Galactosemia |
|
Hepatic failure, Diarrhea, Vomiting, Sepsis, Abnormal erythrocyte enzyme concentration or activit... |
ORPHA:79239 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... |
ORPHA:99867 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... |
ORPHA:169090 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Normocytic anemia, Gastrointestinal hemorrhage, Sepsis, Cardiomyopathy, Elevated circu... |
ORPHA:247691 |
| 20Q13.33 Microdeletion Syndrome |
|
Failure to thrive in infancy, Hematochezia, Small for gestational age |
ORPHA:261311 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... |
ORPHA:391487 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... |
ORPHA:238459 |
| Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... |
OMIM:607850 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Turcot Syndrome With Polyposis |
|
Hematochezia, Melena, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Na... |
ORPHA:99818 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Platelet antibody positive, Increased circulating IgG level, ... |
OMIM:601859 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Leukocyto... |
ORPHA:3392 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Rec... |
ORPHA:90038 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Dracunculiasis |
|
Diarrhea, Limitation of joint mobility, Nausea and vomiting, Skin rash, Arthritis, Flexion contra... |
ORPHA:231 |
| Bronchiolitis Obliterans |
|
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:1303 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... |
OMIM:616809 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... |
OMIM:307200 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... |
ORPHA:99147 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Immotile sperm, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... |
OMIM:615207 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... |
OMIM:619436 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Recurrent infections, Sepsis |
ORPHA:204 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Aspiration pneumonia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypoca... |
ORPHA:94093 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Re... |
OMIM:619445 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Hemophilia A |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... |
OMIM:306700 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... |
ORPHA:99828 |
| Imerslund-Gräsbeck Syndrome |
|
Vomiting, Anisopoikilocytosis, Failure to thrive, Abnormal bleeding, Hypersegmentation of neutrop... |
ORPHA:35858 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
| Listeriosis |
|
Diarrhea, Arteritis, Abscess, Pustule, Abdominal pain, Endocarditis, Osteomyelitis, Peritonitis, ... |
ORPHA:533 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Sepsis, Failure to thrive, Smooth tongue, Recurrent skin infections, Gastrostomy... |
ORPHA:79396 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
| Papa Syndrome |
|
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Pustule, Myositis... |
ORPHA:69126 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Autoimmune hemolyt... |
ORPHA:100026 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis, Failure to thrive, Feeding difficulties, Gastrostomy tube feeding in infancy |
ORPHA:544503 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
