| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| 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 |
| Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
| 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 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... |
OMIM:618986 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... |
ORPHA:33355 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... |
OMIM:616740 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Abdominal pain, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, ... |
OMIM:260570 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... |
OMIM:615767 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... |
OMIM:619281 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... |
OMIM:617638 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diar... |
OMIM:618108 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... |
OMIM:209920 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Vasculitis... |
OMIM:617718 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Hypomagnesemia, Diarrhea, Cachexia, Xerostomia, Hematoch... |
OMIM:175500 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarr... |
OMIM:269840 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... |
OMIM:608971 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Leukoc... |
OMIM:615895 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio... |
OMIM:604416 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Anal fissure, ... |
OMIM:618935 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... |
ORPHA:37042 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... |
OMIM:616050 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in ... |
OMIM:607594 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Failure to thrive, Recurrent skin infections, ... |
OMIM:256500 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... |
OMIM:620321 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Polyarti... |
OMIM:616744 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Recurr... |
ORPHA:98813 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Large vessel vasculitis, Abnormal delayed hypersensitivity skin test, Iron deficiency ane... |
OMIM:301000 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Cachexia, Abdominal pain, High... |
ORPHA:79076 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Failure to thrive, Hematochezia, Prolonged prothrombin time, Decreased seru... |
OMIM:214950 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Cardio... |
ORPHA:79327 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... |
ORPHA:397596 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Leukocy... |
ORPHA:247353 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Chronic diarrhea... |
OMIM:602450 |
| Acute Lung Injury |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated... |
ORPHA:178320 |
| Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Eosinophilic ... |
OMIM:616433 |
| Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections, Sepsis |
OMIM:618847 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged pro... |
OMIM:613812 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Epistaxis, Elevated circulat... |
OMIM:614034 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
| Galactose Mutarotase Deficiency |
|
Sepsis, Failure to thrive, Hypergalactosemia, Decreased liver function |
ORPHA:570422 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Decr... |
OMIM:615122 |
| Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B... |
OMIM:615518 |
| Acquired Purpura Fulminans |
|
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Intracranial hem... |
ORPHA:49566 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG l... |
ORPHA:183675 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematoc... |
OMIM:615846 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal... |
ORPHA:70578 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mas... |
ORPHA:98848 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... |
ORPHA:169160 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia |
ORPHA:2582 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis |
ORPHA:36237 |
| Omenn Syndrome |
|
Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroid... |
ORPHA:39041 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Petechiae,... |
OMIM:612840 |
| Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Hypercholesterolemia, Failure to thrive in infan... |
ORPHA:263501 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Petechiae, Thrombocytopenia, Esophageal strictu... |
OMIM:617053 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Malnutrition, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspirati... |
ORPHA:930 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thromboc... |
ORPHA:292 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... |
ORPHA:1303 |
| Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Shock, Small for gestational age, Abdominal distention, Diarrhea, ... |
ORPHA:391673 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, M... |
ORPHA:379 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
| Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Lymphopenia, Recurrent respiratory infections, Villous atrophy, Eczema, Chronic dia... |
OMIM:619510 |
| Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... |
ORPHA:99976 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Secretory diarr... |
OMIM:618183 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Eosinophilia, Eczema, Craniosynostosis, Keratitis,... |
OMIM:618523 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... |
OMIM:614602 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... |
ORPHA:276580 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension,... |
ORPHA:199299 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Absent circulating B cells, Recurrent sinusitis, Recu... |
OMIM:620282 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... |
ORPHA:331 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Congestive heart failure, Di... |
ORPHA:67 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectas... |
OMIM:240500 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D... |
OMIM:615952 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
| Lassa Fever |
|
Nausea and vomiting, Abnormal bleeding, Shock, Abdominal pain, Diarrhea, Sepsis, Increased circul... |
ORPHA:99824 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic diarrh... |
OMIM:242700 |
| Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... |
ORPHA:3132 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... |
ORPHA:141152 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Giant cell hepatitis, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
| Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea,... |
ORPHA:549 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Asthma, Increased circulating IgE lev... |
OMIM:619752 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... |
ORPHA:31205 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph... |
ORPHA:486 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal ab... |
OMIM:612541 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T c... |
OMIM:614576 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... |
ORPHA:2137 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619573 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Recurrent respiratory in... |
ORPHA:36426 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma |
ORPHA:280785 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... |
OMIM:614069 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections, Anemia, Leuko... |
OMIM:615285 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... |
ORPHA:276575 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Abdominal pain, Leukocytosis, Osteoporosis, Hepat... |
ORPHA:98850 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Recurrent respiratory in... |
ORPHA:537 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:36238 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibod... |
OMIM:619632 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Meningococcal Meningitis |
|
Shock, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Ano... |
ORPHA:33475 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... |
ORPHA:913 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233690 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Sepsis, Vom... |
ORPHA:2552 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in... |
OMIM:616005 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune th... |
ORPHA:293978 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, T lymphocytopen... |
OMIM:242860 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R... |
ORPHA:275 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent ... |
OMIM:617303 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... |
OMIM:301220 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
| Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Dyspnea, Anti... |
ORPHA:99867 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Nasogastric tube feeding in infancy, Sepsis, Pulmonary arterial hypertension, Hyperglycinemia, Hy... |
OMIM:619059 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic intersti... |
OMIM:618495 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
| Alg12-Cdg |
|
Sepsis, Gastroesophageal reflux, Hypoalbuminemia, Hypocholesterolemia, Pachygyria, Hyponatremia, ... |
ORPHA:79324 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... |
OMIM:613490 |
| Vipoma |
|
Nausea and vomiting, Hypercalcemia, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, E... |
ORPHA:97282 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia... |
ORPHA:3392 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, High, narrow palate, Feeding difficulties, Hematoch... |
OMIM:619575 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Hyperammonemia, Recurrent infections, Feeding difficulties, Hyperalaninemia, Fai... |
OMIM:614739 |
| Melioidosis |
|
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of ... |
ORPHA:31202 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:306400 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Sepsis, Recu... |
ORPHA:764 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abdominal... |
ORPHA:480520 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased serum ir... |
ORPHA:98870 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... |
ORPHA:391487 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Raynaud phenomenon, Elevate... |
ORPHA:247691 |
| Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurr... |
OMIM:618449 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Sepsis, Endocarditis, Se... |
ORPHA:449280 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... |
OMIM:601495 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
| Rigid Spine Syndrome |
|
Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexion contracture,... |
ORPHA:97244 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... |
ORPHA:90038 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contract... |
ORPHA:231 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections |
ORPHA:204 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... |
ORPHA:99147 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613807 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Vomiting, Hypocal... |
ORPHA:94093 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch... |
OMIM:241600 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Petechiae, Epistaxis, Abdominal pain... |
ORPHA:99828 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... |
OMIM:612649 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilit... |
ORPHA:35858 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Feeding difficulties, Decreased circulating antibody level, Re... |
ORPHA:79396 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... |
OMIM:615207 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... |
ORPHA:79259 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Feeding difficulties, Sepsis, Gastrostomy tube feeding in infancy |
ORPHA:544503 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired rist... |
OMIM:231200 |
| Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... |
ORPHA:340 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Chronic diarrhea, Decreased cir... |
OMIM:102700 |
| Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
| Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal diste... |
OMIM:619445 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... |
ORPHA:1572 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulm... |
OMIM:616414 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Decrea... |
OMIM:615947 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... |
OMIM:613179 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Failure to thrive |
ORPHA:79301 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Sepsis, Bradycardia, Hypotension |
ORPHA:70587 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis, Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid con... |
OMIM:614886 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial inf... |
OMIM:155100 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Pyoderma, Conju... |
OMIM:307200 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumo... |
ORPHA:707 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat... |
ORPHA:39812 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... |
OMIM:619858 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Recurrent upper respiratory tract infections, Obesity, High pal... |
OMIM:300209 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity |
OMIM:103200 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Congest... |
ORPHA:505248 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased... |
OMIM:304790 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Cleft palate |
ORPHA:398189 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aph... |
OMIM:611762 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, High palate, Joint contracture of the 5th finger, Feeding difficulties |
OMIM:248910 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Osteoporosis, Bronchiectasis, Cheilit... |
OMIM:615468 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Bronchiectasis, Metopic synostosis |
ORPHA:477814 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM ... |
ORPHA:37748 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Recurrent respiratory infections, Sepsis, Erythroderma |
ORPHA:313 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,... |
ORPHA:90117 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
| Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Sepsis |
ORPHA:163921 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Increased skull ossification, Pneumonia |
ORPHA:85179 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Inhalational Anthrax |
|
Internal hemorrhage, Vomiting, Sepsis, Hypotension |
ORPHA:247257 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal ... |
ORPHA:29207 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia of inadequate ... |
ORPHA:75564 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... |
ORPHA:793 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Failure to thrive, Elevated... |
OMIM:276700 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Hepatitis, Uveitis, Retina... |
ORPHA:319251 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
| Currarino Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal obstruction... |
OMIM:176450 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Osteopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiectasis, Recur... |
OMIM:619446 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean pla... |
ORPHA:84064 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Abdominal pa... |
ORPHA:98849 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight, Macroglossia, Constipation, Anemia |
OMIM:614450 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormality of neutro... |
ORPHA:154 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Feeding difficulties in infancy, Recurrent upper respiratory tract infections, Increased body wei... |
ORPHA:589905 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Pfapa Syndrome |
|
Nausea and vomiting, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyngitis, Arthriti... |
ORPHA:42642 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Myocarditis, R... |
ORPHA:829 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha... |
ORPHA:31204 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Recurrent bacterial infections, Inflammation of ... |
OMIM:232220 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Sepsis, High ... |
OMIM:619418 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Thrombocytope... |
ORPHA:64743 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
| Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Anorexia, Knee osteoarthritis, Leukopenia,... |
ORPHA:1304 |
| Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Anorexia, Cholecystitis, Cough, Lupus anticoagu... |
ORPHA:781 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Esophageal stricture, M... |
ORPHA:79404 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Abnormal bleeding, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... |
ORPHA:86841 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal... |
ORPHA:529799 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... |
ORPHA:263455 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Sepsis, Abnormal left ventricular function, Leukopenia, Vomiting, Protein-losi... |
OMIM:619991 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... |
OMIM:615508 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Osteoporosis, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea,... |
OMIM:619971 |
| Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Gastroparesis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Recurrent respiratory infections, Prolonged bleeding time, Abnormal neutroph... |
ORPHA:3226 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... |
ORPHA:182050 |
| Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Abdominal pain, Splenomegaly, Joint swel... |
ORPHA:85414 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Arthriti... |
OMIM:607115 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227990 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... |
OMIM:614204 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudden cardiac dea... |
OMIM:201475 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Overweight, Feeding difficulties, High palate, Gastroesophageal... |
ORPHA:486815 |
| Glycogen Storage Disease Ic |
|
Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Spider hemangioma, Hyperlipidemia, Recu... |
OMIM:232240 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypo... |
OMIM:603554 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, An... |
ORPHA:732 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... |
OMIM:615816 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... |
ORPHA:2869 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... |
OMIM:181000 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, ... |
ORPHA:99745 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... |
ORPHA:171 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Cleft palate, Feeding diffi... |
OMIM:616222 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Nasogastric tube feeding |
OMIM:619057 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227982 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, ... |
ORPHA:139402 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Dysphagia, Feeding difficulties, Simplified gyr... |
OMIM:618253 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Bloom Syndrome |
|
Bronchitis, Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrea... |
ORPHA:125 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom... |
ORPHA:3452 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... |
ORPHA:2590 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Autoimmunity, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Vomiting, Hypoalbuminemia, Hypocholesterolemia, Constrictive pericarditis, A... |
ORPHA:90363 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Constipation |
ORPHA:2126 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decr... |
ORPHA:79124 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesity, Recurrent ear infections |
OMIM:614962 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Purpura, Epistaxis, Anorexia, Malabsorption, Abno... |
ORPHA:33226 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... |
OMIM:604571 |
| Riddle Syndrome |
|
Pneumonia, Bronchitis, Abdominal pain, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, Abnormal... |
ORPHA:420741 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr... |
ORPHA:91139 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Pleuritis... |
OMIM:609939 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Neonatal sepsis, Pneumonia, Hyperkalemia, Vomiting, Failure to thrive |
ORPHA:90790 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Hepatic Veno-Occlusive Disease |
|
Abdominal pain, Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... |
OMIM:616037 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ... |
ORPHA:85443 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody level, Recurrent... |
OMIM:605309 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal pain, Abnormal stomach morpholog... |
ORPHA:2357 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Pyloric stenosis, Obesity, Cleft palate, Feeding difficulties, Truncal... |
ORPHA:96184 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Abnor... |
ORPHA:206572 |
| Calciphylaxis |
|
Hyperphosphatemia, Sepsis |
ORPHA:280062 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... |
OMIM:618063 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h... |
ORPHA:35909 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Recurrent candida infections, Ga... |
ORPHA:48435 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Sepsis, Microcolon |
OMIM:619362 |
| Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Sepsis, Vomiting, Prostatitis |
ORPHA:1546 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Feeding difficulties, High palate, Recurrent otitis media, Hypercholesterolemia |
ORPHA:254531 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Lupus anticoagulant, Nephritis, Abdominal pain, Microangiopathic ... |
ORPHA:93552 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
| Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Pulmonary fibrosis, ... |
ORPHA:809 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
| Tenorio Syndrome |
|
Gastroesophageal reflux, Recurrent aphthous stomatitis, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, D... |
ORPHA:2268 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Anemia, Arthritis, Panniculiti... |
OMIM:617591 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, Small for gestational a... |
ORPHA:26793 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... |
OMIM:187900 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Abnormal sperm motility, Perib... |
ORPHA:244 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Pancreatitis... |
OMIM:155310 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... |
OMIM:620233 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Cinca Syndrome |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Abnormality of neutro... |
ORPHA:1451 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating ... |
ORPHA:93672 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... |
ORPHA:1855 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea... |
OMIM:260920 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Hepatitis, Decreased circulating anti... |
ORPHA:381 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ... |
ORPHA:589 |
| Blue Diaper Syndrome |
|
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia |
ORPHA:94086 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Recurrent pneumonia, Recurrent upper respiratory tract infections, Fee... |
OMIM:619769 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Wilson Disease |
|
Acute hepatic failure, Thrombocytopenia, Splenomegaly, Hepatitis, Increased body weight, Weight l... |
ORPHA:905 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... |
ORPHA:79456 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg... |
ORPHA:90041 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic constipation, Aganglionic megacolon, Hyperuricemia, Obesity |
ORPHA:261222 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Abnormality of neutrophils |
ORPHA:111 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,... |
ORPHA:79240 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females |
ORPHA:528 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Feeding difficulti... |
ORPHA:45452 |
| 13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Atopic dermatitis, Obesity, Constipation, Vomiting, Chronic oti... |
ORPHA:412035 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul... |
ORPHA:729 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... |
OMIM:614162 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Nasogastric tube feeding in infancy, Sepsis, Cleft palate, Feeding dif... |
ORPHA:363611 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... |
ORPHA:1414 |
| Low Phospholipid-Associated Cholelithiasis |
|
Abdominal colic, Liver abscess, Cholangitis, Overweight, Obesity, Sclerosing cholangitis, Neoplas... |
ORPHA:69663 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Pneumonia, Abdominal pain, Respiratory insufficiency, High palate, Vomit... |
ORPHA:2135 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... |
ORPHA:98897 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
| Cortisone Reductase Deficiency 1 |
|
Acne, Obesity |
OMIM:604931 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis |
ORPHA:309288 |
| Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, O... |
ORPHA:589821 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Abdominal symptom, Sepsis |
ORPHA:505395 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Dia... |
ORPHA:221139 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... |
ORPHA:90291 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abnorm... |
ORPHA:440437 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Co... |
ORPHA:186 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, High palate, Lissencephaly, Hyperbilirubinemia, Hep... |
OMIM:606812 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercho... |
OMIM:182290 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Pancrea... |
OMIM:222700 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Splenomegaly, Vasculitis, Arthritis... |
ORPHA:91138 |
| Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis |
OMIM:600501 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... |
OMIM:612562 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Gastroesophageal reflux, Esophagitis, Hyposerinemia |
ORPHA:79350 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hypercalcemia, Anorexia, Hematemesis, Abdominal pain, Diarrhea, Sho... |
ORPHA:652 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Hypercalcemi... |
ORPHA:97280 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Conjunctival telangiectasia, Transient ischemi... |
ORPHA:774 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Osteoporosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased m... |
OMIM:127550 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Anorexia, Poor appetite, Bowel urgency, Dyspnea, Nonproductive cough, Asthma, Wheezing... |
ORPHA:97287 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... |
ORPHA:71212 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
| Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hypertension, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Ankle clonus, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Sinusitis, Recurrent bronchitis, Decreased circulating IgG2 level, Chronic diarrhea,... |
OMIM:208900 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Failure... |
OMIM:614520 |
| Behçet Disease |
|
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
| Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin,... |
ORPHA:79318 |
| Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Abnormal cortical gyration, Megaloblastic anemia, Hyposerinemia, Feeding difficul... |
ORPHA:79351 |
| Gaucher Disease, Type Ii |
|
Apnea, Splenomegaly, Dysphagia, Feeding difficulties, Anemia, Stridor, Gastroesophageal reflux, P... |
OMIM:230900 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Nausea and vomiting, Elevated circulating creatine kinase concentration, Obesity, Heart murmur, H... |
OMIM:615418 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... |
ORPHA:70 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... |
OMIM:609313 |
| Cystic Fibrosis |
|
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... |
OMIM:219700 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Small for gestational age, Intestinal malrot... |
ORPHA:1199 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... |
ORPHA:97283 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Duodenal atresia |
OMIM:603467 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding |
ORPHA:79264 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Flexion contracture, Abnormal respirat... |
ORPHA:98905 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Abdom... |
ORPHA:244242 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Flexion contracture, Pneumonia |
OMIM:253700 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Abnormal cortical gyration, Hiatus hernia, Esophageal ... |
ORPHA:2538 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... |
ORPHA:97278 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Sitosterolemia 1 |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stom... |
OMIM:210250 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobulinemia, Recurrent bronchitis... |
OMIM:251260 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Recurrent infections, Bidirecti... |
OMIM:619351 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Flexion contracture, Feeding difficulties, Gastroesophageal reflux... |
ORPHA:79243 |
| Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79086 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Leukopenia, Pulmonary arteria... |
ORPHA:974 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Feeding difficulties, Recurrent infections, Decreased serum zinc, Esophagitis... |
ORPHA:541423 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Rheumatoid factor positive, Deep... |
ORPHA:49041 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Malabsorption, Seborrheic dermati... |
ORPHA:2796 |
| Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... |
ORPHA:363705 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis |
OMIM:601005 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Bruising susceptibility, Acne, Increased body weight |
OMIM:615830 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... |
ORPHA:97261 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Dysphagia, Aspiration pneumonia, Increased susceptibility to fractures |
ORPHA:216866 |
| Sotos Syndrome |
|
High, narrow palate, Increased body weight, Narrow palate, Feeding difficulties, Gastroesophageal... |
OMIM:117550 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Feeding difficulties in in... |
ORPHA:314655 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S... |
ORPHA:536 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, High palate, Constip... |
ORPHA:93932 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... |
ORPHA:881 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... |
ORPHA:330021 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Malabsorption, Feeding difficult... |
ORPHA:3463 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Increased circulating IgG le... |
ORPHA:449395 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hepatos... |
ORPHA:354 |
| Lissencephaly Due To Lis1 Mutation |
|
Feeding difficulties, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygy... |
ORPHA:95232 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level |
ORPHA:941 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Episcleritis, Nausea and vomiting, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Feeding difficulties, Hypopnea, Restrictive... |
OMIM:619482 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arrhythmia, Microcolon |
ORPHA:163746 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Subcutaneous hemorrhage, Angina pectoris, Abnormal large intestine morpholo... |
ORPHA:109 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate |
ORPHA:250999 |
| Chops Syndrome |
|
Gastroparesis, Splenomegaly, High, narrow palate, Anomalous pulmonary venous return, Gastroesopha... |
OMIM:616368 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... |
ORPHA:758 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Calcinosis, Erythema nodosum, Splenomegaly, Raynaud phenomenon, Lip ... |
OMIM:613471 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Feeding difficulties in infancy, ... |
OMIM:617137 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, G... |
ORPHA:96182 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Xerostomia, Increased body weight, Feeding difficulties, Chroni... |
ORPHA:398069 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Ankle flexion cont... |
ORPHA:2020 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Nasogastric tube feeding in infancy, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, ... |
ORPHA:99646 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... |
ORPHA:508 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Angina pectori... |
ORPHA:412 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Hardikar Syndrome |
|
Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Pyelonephritis, He... |
OMIM:301068 |
| Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit... |
ORPHA:90289 |
| Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduced forced expirator... |
ORPHA:586 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal granulocyte morphology, Cardiomyopathy, Abnormal circulat... |
ORPHA:98907 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Flexion contracture, Constipation, Aspiration pneumonia |
ORPHA:35069 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Recurrent urinary tract infections... |
ORPHA:731 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:620075 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, S... |
ORPHA:79102 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... |
ORPHA:99921 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal re... |
ORPHA:567 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| Dubowitz Syndrome |
|
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... |
ORPHA:235 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis |
OMIM:131100 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Stiff neck, Pneumonia, Nausea, Pustule, Respiratory tract infection, Granuloma, Vomiti... |
ORPHA:68 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Elbow flex... |
OMIM:122470 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Hyperlipidemia, Increased body weight, Hypertension, Abdominal obesity, Bruising susceptibi... |
ORPHA:189427 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Pneumonia, Craniosynostosis, Joint stiffness, Osteolysis,... |
ORPHA:309282 |
| Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... |
ORPHA:797 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
| Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... |
OMIM:608594 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Joint stiffness, Splenomegaly, Flexion contracture, Recurrent upper respiratory tract ... |
OMIM:253200 |
| Dyskeratosis Congenita |
|
Recurrent respiratory infections, Esophageal stenosis, Telangiectasia of the skin, Abnormality of... |
ORPHA:1775 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux... |
ORPHA:2896 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory failure |
OMIM:617809 |
| Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations |
ORPHA:1501 |
| Cushing Disease |
|
Acne, Myocardial infarction, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infe... |
ORPHA:96253 |
| Orofaciodigital Syndrome Ix |
|
High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly |
OMIM:258865 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Joint stiffness, Respiratory tract infection, Splenomegaly, M... |
ORPHA:581 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
| Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Poor appetite, Gout |
ORPHA:3467 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... |
OMIM:269700 |
| Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroeso... |
OMIM:619488 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... |
ORPHA:3342 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Bicarbonaturia, Vomiting, Hyperuricemi... |
OMIM:229600 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Abdominal cramps, Aspiration pneumon... |
ORPHA:173 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties |
OMIM:615356 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Increased LDL cholesterol concentration, Hypercholester... |
ORPHA:209902 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Hyperammon... |
ORPHA:90062 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Dysphagia, Gastroesophageal reflux, Hepatic hemangioma, Abnormal bone ossification, Generalized b... |
ORPHA:73230 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Anorexia, Myocardial infa... |
ORPHA:99889 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Tay-Sachs Disease |
|
Hepatosplenomegaly, Ankle clonus, Aspiration pneumonia, Dysphagia, Limited knee extension, Limite... |
ORPHA:845 |
| Marshall-Smith Syndrome |
|
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Flexion contracture, Aspiration pneu... |
OMIM:301072 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspiration pneumonia, Bifid uvula |
OMIM:300472 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Mowat-Wilson Syndrome |
|
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Decreased circu... |
ORPHA:2152 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Telangiectasia, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Chronic constipation, Aspiration pneumonia, Feeding difficulties |
OMIM:616430 |
| Gm1 Gangliosidosis Type 1 |
|
Feeding difficulties, Hepatosplenomegaly, Macroglossia, Aspiration pneumonia, Acetabular dysplasia |
ORPHA:79255 |
| Miller-Dieker Lissencephaly Syndrome |
|
Pachygyria, Cleft palate, Gray matter heterotopia, Lissencephaly, Camptodactyly, Joint contractur... |
OMIM:247200 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Feeding difficulties |
OMIM:619167 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:614800 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Dis... |
OMIM:225400 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
| Alobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Hip dislocation, Cleft palate, Dysphagia, Feeding difficultie... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Flexion contracture, Hip dislocation, Cleft palate, Dysphagia, Feeding difficultie... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Hip dislocation, Cleft palate, Dysphagia, Feeding difficultie... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Flexion contracture, Hip dislocation, Cleft palate, Dysphagia, Feeding difficultie... |
ORPHA:220386 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, High, narrow palate, Thrombocytopenia, Rec... |
OMIM:188400 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis,... |
ORPHA:198 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Feeding difficulties, Painless fractu... |
ORPHA:642 |
| Opitz Gbbb Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Feeding difficulties in infancy, Tracheoesophageal fis... |
ORPHA:2745 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Pulmonic stenosis, Colon perforation, Failure to thrive, Microcolon |
OMIM:600001 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Asthma, Pulmonary arterial hypertension, Glossoptosis, Macroglossia, High palate, ... |
ORPHA:444077 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Malnutrition, Flexion contracture, Constipation, Aspiration pneumonia, Dysphagia |
ORPHA:99027 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Hemolytic anemia, Anal stenosis, Congenital hip dislocation, Intestinal malrot... |
OMIM:147920 |
| Coffin-Siris Syndrome |
|
Joint laxity, Recurrent upper respiratory tract infections, Simplified gyral pattern, Feeding dif... |
ORPHA:1465 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Asthma, Narrow... |
ORPHA:353281 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Hypoventilation, Apnea, Breathing dysregulation, Osteoporosis, Feeding ... |
ORPHA:438213 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Protuberant abdomen |
OMIM:618019 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Pneumonia, Delayed closure of the anterior fontanelle, Flexion ... |
OMIM:264090 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Feeding diffic... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Feeding diffic... |
ORPHA:353277 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain |
ORPHA:538 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Increased body weight, Br... |
ORPHA:1359 |
| Doors Syndrome |
|
Respiratory distress, Sagittal craniosynostosis, Cleft palate, Feeding difficulties, Narrow palat... |
ORPHA:79500 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast... |
ORPHA:508488 |
| Restrictive Dermopathy |
|
Submucous cleft hard palate, Microcolon |
ORPHA:1662 |
| Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
| Yunis-Varon Syndrome |
|
Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Pachygyria, Pylori... |
OMIM:216340 |
