Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Immunodeficiency 79 |
|
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... |
OMIM:619238 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-posit... |
OMIM:615615 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous... |
OMIM:608971 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis |
OMIM:267500 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... |
OMIM:619164 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Recurrent bacterial mening... |
OMIM:300400 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Pneumonia, Hepatomegaly, Eczematoid dermatiti... |
OMIM:269840 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Fa... |
OMIM:615617 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Death in infancy, Bronchiectasis, Coombs-positive he... |
OMIM:617514 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal s... |
ORPHA:424019 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine mo... |
ORPHA:70482 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, T lymphocytopenia, Increased proportion of transitional B cells, Recurr... |
OMIM:615513 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... |
OMIM:619437 |
Immunodeficiency 42 |
|
Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chronic oral candidiasis, BCGosi... |
OMIM:616622 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia |
OMIM:242870 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Failure to thriv... |
OMIM:603554 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... |
OMIM:618806 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy... |
OMIM:618987 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Immunodeficiency 8 With Lymphoproliferation |
|
Gastroesophageal reflux, Chronic oral candidiasis, Recurrent otitis media, Lymphopenia, Recurrent... |
OMIM:615401 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent EBV viremia, Decreased CD4:CD8 ratio, Severe varicella zoster infection, Recurrent bro... |
OMIM:300853 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Perianal... |
OMIM:618108 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... |
OMIM:615518 |
Solitary Rectal Ulcer Syndrome |
|
Anemia, Decreased body weight, Stercoral ulcer, Anal fissure, Rectal prolapse, Hematochezia |
ORPHA:209964 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent ... |
ORPHA:277 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... |
OMIM:618204 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... |
OMIM:619350 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce... |
OMIM:613501 |
Immunodeficiency 75 With Lymphoproliferation |
|
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... |
OMIM:619126 |
Wolman Disease |
|
Anemia, Hepatic failure, Cachexia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal ... |
ORPHA:75233 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to th... |
OMIM:601457 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent viral infections, Recurrent ... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormally low T cell recepto... |
OMIM:242700 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil anti... |
OMIM:607594 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Cachexia, Tracheoesophageal fistula, Abnormality of mesentery morpholo... |
ORPHA:93941 |
Majeed Syndrome |
|
Abnormal inflammatory response, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin,... |
ORPHA:77297 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Cystic Fibrosis |
|
Meconium ileus, Cirrhosis, Biliary cirrhosis, Bronchiectasis, Asthma, Recurrent bronchopulmonary ... |
OMIM:219700 |
Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,... |
OMIM:112200 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia |
OMIM:247800 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Generalize... |
OMIM:618986 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... |
OMIM:618982 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
BCGitis, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell recep... |
OMIM:602450 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast... |
ORPHA:217390 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:C... |
OMIM:150550 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Isolated Agammaglobulinemia |
|
Anemia, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnormality of t... |
ORPHA:229717 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... |
ORPHA:60033 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intestinal atresia, En... |
OMIM:243150 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... |
OMIM:301082 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Ovarian neoplasm, Weight loss, Ileus, Neoplasm of the pancreas, Cachexia, Abnormality of ... |
ORPHA:83469 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Thymic Aplasia |
|
Hypothyroidism, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infec... |
ORPHA:83471 |
Immunodeficiency 40 |
|
Respiratory tract infection, Rectal fistula, Elevated circulating alanine aminotransferase concen... |
OMIM:616433 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Chronic bronchitis, Bronchiectasis, Wheezing, Hepatocellular carcinoma, Chronic pulmon... |
OMIM:613490 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 17 |
|
T lymphocytopenia, Abnormal B cell morphology, Death in infancy, Chronic oral candidiasis, Decrea... |
OMIM:615607 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... |
OMIM:618534 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Immunodeficiency 50 |
|
Neutropenia, Eczema, Recurrent respiratory infections, Lymphopenia |
OMIM:300988 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Skin rash, Malabsorption, Abno... |
ORPHA:33355 |
Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Recurrent aspiration pneumonia, Weight loss, Cough, Dysphagi... |
ORPHA:930 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Recurrent urinary tract infections, Decreased testicul... |
OMIM:617053 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis... |
ORPHA:2930 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Asthma, Eczema, Recurrent sinopulmonary infections, Failure to thrive, L... |
OMIM:607271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Neonatal sepsis, Lymphocytosis, Decreased proportion of CD3-positive T cells, ... |
ORPHA:169154 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Recurrent pneumon... |
OMIM:613500 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop... |
OMIM:619846 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Increased... |
OMIM:209950 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infections, Neutrophilia, Failure to... |
OMIM:226990 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, S... |
OMIM:612541 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough |
ORPHA:64741 |
Pfapa Syndrome |
|
Weight loss, Malabsorption, Arthritis, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infe... |
ORPHA:42642 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Failure to t... |
OMIM:618495 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:617184 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, Erythroderma, T lymphocytopenia, Villous atrop... |
OMIM:619510 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy |
ORPHA:85447 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... |
OMIM:174900 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased proportion o... |
ORPHA:276 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Abno... |
ORPHA:37042 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec... |
ORPHA:1572 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... |
OMIM:616005 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... |
OMIM:252011 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... |
OMIM:619220 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis, Recurrent ot... |
OMIM:612692 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Cachexia, Gastrointestinal dysmotility, Slender build, Intestinal pse... |
OMIM:613662 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ... |
ORPHA:911 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos... |
ORPHA:824 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Severe varicella zoster infection, Hepatosplenomegaly, Lymphad... |
OMIM:618261 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Primary microcephaly |
ORPHA:89844 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal propo... |
ORPHA:133 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Recurrent enteroviral infections, Abnormal B c... |
ORPHA:331206 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Immunodeficiency 9 |
|
Failure to thrive, Recurrent infections, Hypoplasia of the thymus, BCGitis |
OMIM:612782 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Stillbirth |
OMIM:152800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood |
OMIM:619064 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneu... |
OMIM:614700 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Persistent EBV viremia, Recurrent urinary tract infections, Generalized l... |
OMIM:615559 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Peutz-Jeghers Syndrome |
|
Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple gastric polyps, B... |
OMIM:175200 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Severe infection, HbS hemoglobin, Reticulocytosis, Persistence of hemoglo... |
ORPHA:251380 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Lymphocytosis, Pancytopenia, Au... |
OMIM:614470 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Recurrent infections, Hepatomegaly, Extramedullary hematop... |
OMIM:615285 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Micro... |
ORPHA:141152 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Hypoplasia of the thymus, Epicanthus, Jaundice, Intrahepatic biliary dysgenesis... |
OMIM:214110 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Hepatitis, Lymphopenia, Hepatosplenomegaly, Recurrent pne... |
ORPHA:169160 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Anemia, Cirrhosis, Weight loss, Small intestinal dysmotility, Abnormalit... |
ORPHA:298 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal a... |
ORPHA:424016 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Cataract, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Recurrent bronchitis, Acute lym... |
OMIM:208900 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center, Recur... |
ORPHA:79124 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... |
ORPHA:50251 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Type I diabetes me... |
OMIM:301078 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... |
OMIM:616100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Pneumonia, Atopic... |
OMIM:617638 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Hypoplasia of the thymus, Death in infancy, Pyloric stenosis, Pulmonary ... |
OMIM:613177 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Intussusception, Microangiopathic hemolytic anemia, Peri... |
ORPHA:90038 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Cystic Fibrosis |
|
Meconium ileus, Gastroesophageal reflux, Cirrhosis, Pneumothorax, Abnormality of the liver, Bronc... |
ORPHA:586 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, Severe varicella zoster infection, T lymphocytopenia, He... |
OMIM:606367 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... |
OMIM:619281 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Pulmonary hypoplasia, Intestinal malrotation, Abnormal biliary tract... |
ORPHA:3032 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Skin rash, Rectovaginal fistula, ... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Malabso... |
OMIM:242860 |
Felty Syndrome |
|
Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal... |
ORPHA:47612 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology |
OMIM:601612 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Failure to thrive, Lympha... |
OMIM:618048 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... |
ORPHA:2198 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Aniridia, Asplenia |
OMIM:602361 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Achalasia, B lymphocytopenia, Recurrent sinu... |
OMIM:618969 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni... |
OMIM:618935 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... |
ORPHA:572 |
Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Juvenile Polyposis Of Infancy |
|
Anemia, High, narrow palate, Intussusception, Cachexia, Hematochezia, Intestinal bleeding, Refrac... |
ORPHA:79076 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Cataract, Microcephaly, B lymphocytopenia |
OMIM:619851 |
Whipple Disease |
|
Respiratory insufficiency, Anemia, Malabsorption, Arthritis, Pleuritis, Cachexia, Uveitis, Perica... |
ORPHA:3452 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o... |
ORPHA:2552 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Malabsorption, Jaundice, Esophageal varix, Elevated hepatic transaminase,... |
ORPHA:131 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp... |
OMIM:278000 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Neonatal death, Flexion contracture, Myopathy |
OMIM:618237 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, F... |
OMIM:102700 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... |
ORPHA:443811 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased p... |
OMIM:619652 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Short palpebral fissure, Epicanthus, Thin eyebrow, Abnormally low T cell receptor excision circle... |
OMIM:618092 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Weight loss, Hepatitis, Skin rash, Arthritis... |
ORPHA:47 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hepatomegaly, Cardiomegaly, Death in childhood, Splenomegaly |
OMIM:269920 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Acitretin/Etretinate Embryopathy |
|
Antecubital pterygium, Hypoplasia of the thymus, Microcephaly, Epicanthus |
ORPHA:40366 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... |
OMIM:618652 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Elevated hepatic trans... |
ORPHA:507 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia, Miscarriage |
ORPHA:464370 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... |
OMIM:616028 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
Mevalonic Aciduria |
|
Downslanted palpebral fissures, Cataract, Splenomegaly, Microcephaly |
ORPHA:29 |
Ciliary Dyskinesia, Primary, 25 |
|
Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Po... |
OMIM:615482 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Rectal prolapse, Respiratory distress |
OMIM:619793 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Allergic rhinitis, Asthma, Abnormality of the gastrointestinal tract, Malabs... |
ORPHA:2070 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Cachexia, Death in infancy |
ORPHA:157973 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... |
ORPHA:1164 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... |
ORPHA:3392 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... |
ORPHA:699 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Respiratory distress, Weight loss |
OMIM:612075 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
Ganglioneuroma |
|
Colorectal polyposis, Multiple intestinal neurofibromatosis, Gastrointestinal hemorrhage, Central... |
ORPHA:251992 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downslanted palpebral fissures, Recurrent respiratory infections, Cataract, Microcephaly, Neutrop... |
ORPHA:2643 |
Follicular Lymphoma |
|
Weight loss, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lympha... |
ORPHA:545 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia, Death in childhood |
OMIM:609528 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis |
OMIM:616744 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Decr... |
OMIM:613493 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... |
ORPHA:331235 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Weight loss, Lymphadenopathy, Abnormal neu... |
ORPHA:3226 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Recurrent otitis media |
OMIM:618948 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Xerostomia, Hamartomatous... |
OMIM:175500 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... |
OMIM:619705 |
Aspergillosis |
|
Bronchiectasis, Pleural effusion, Abnormal esophagus morphology, Eosinophilia, Pneumonia, Abnorma... |
ORPHA:1163 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Epicanthus, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory trac... |
OMIM:614069 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... |
ORPHA:486 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia... |
OMIM:235510 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Refsum Disease, Classic |
|
Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Cryptococcal meningitis, T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Immunodeficiency 31C |
|
Recurrent vulvovaginal candidiasis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Vill... |
OMIM:614162 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Hepatomegaly, Death in infancy |
OMIM:613730 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Exertional dyspnea, Weight loss, Chronic noninfectious lympha... |
ORPHA:100083 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Neutropenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusitis, Recurrent ot... |
OMIM:601495 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Dubowitz Syndrome |
|
Respiratory insufficiency, Anemia, High palate, Asthma, Malabsorption, Acute lymphoblastic leukem... |
ORPHA:235 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Achalasia, Desquamative interstitial pneumonitis, Neutropenia in presence of anti-neutropil antib... |
OMIM:615952 |
Omenn Syndrome |
|
Anemia, Erythroderma, Thyroiditis, Failure to thrive, Lymphadenopathy, Leukocytosis, Eosinophilia... |
ORPHA:39041 |
Tuberculosis |
|
Cough, Weight loss, Abnormal lung morphology |
ORPHA:3389 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Pancytopenia, Ulcerative col... |
OMIM:618394 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Weight loss, Abnormality of the peritoneum, Inflammation of the large ... |
ORPHA:26790 |
Cyclic Neutropenia |
|
Respiratory tract infection, Recurrent skin infections, Enterocolitis, Perianal abscess, Periodon... |
ORPHA:2686 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess,... |
OMIM:609981 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract, Ast... |
ORPHA:2902 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy |
OMIM:619003 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... |
OMIM:608184 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Abnormal heart morphology, Neonatal death, Small thenar eminence |
OMIM:613390 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopa... |
ORPHA:1332 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Elevated h... |
OMIM:619463 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Weight loss, ... |
ORPHA:54251 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly |
OMIM:252920 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, High palate, Hep... |
ORPHA:33110 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thr... |
OMIM:618999 |
Wiskott-Aldrich Syndrome |
|
Conjunctivitis, Anemia, Sepsis, Hypoplasia of the thymus, Hemolytic anemia, Recurrent respiratory... |
ORPHA:906 |
Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ... |
ORPHA:84064 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Death in early adulthood, Dysphagia |
ORPHA:85278 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Death in infancy, Failure to thrive,... |
OMIM:615592 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Decr... |
ORPHA:275761 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Microcephaly, Abnormal natural killer cell morphology, Recu... |
OMIM:615966 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia, Anal atresia, Cleft palate, High, narrow palate |
ORPHA:3242 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Weight loss, Interstitia... |
ORPHA:723 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertrophy, Abn... |
ORPHA:268 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... |
ORPHA:398063 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Bronchiectasis, Eosinophilic infiltration of the esophagus, As... |
OMIM:243700 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... |
ORPHA:158048 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Death in infancy, Exercise-indu... |
OMIM:201475 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly |
ORPHA:75234 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Infectious encephalitis, Productive cough, He... |
ORPHA:454836 |
Aredyld Syndrome |
|
Cachexia, Splenomegaly, Hepatomegaly |
ORPHA:1133 |
Aggressive Systemic Mastocytosis |
|
Anemia, Maculopapular exanthema, Decreased liver function, Weight loss, Malabsorption, Hypersplen... |
ORPHA:98850 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Failure to thrive, Cataract, Microcephaly, Thrombocytopenia |
ORPHA:67048 |
Mulibrey Nanism |
|
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Sleep apnea, Cachexia, Dysphagia |
ORPHA:97229 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... |
ORPHA:99104 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, High palate, Bronchiectasis, Asthma, Cutaneous abscess, Lympho... |
OMIM:619752 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exertional dyspnea, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Dec... |
ORPHA:42 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... |
OMIM:235200 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Recurrent sinopulmonary infections, Chronic pulmonary obstruc... |
OMIM:616576 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, F... |
OMIM:308240 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, E... |
OMIM:269200 |
Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Weight loss, Skin rash, Lymphadenopathy, Cough, Bone marrow hypocellul... |
ORPHA:391 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage, Death in infancy |
OMIM:618886 |
Melioidosis |
|
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Abnormal parotid gland... |
ORPHA:31202 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Anemia, Enteroviral dermatomyositis syndrome, T lymphocytopenia, B lymphocytopeni... |
OMIM:300755 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233710 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Micronodular cirrhosis... |
OMIM:301045 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Weight loss, Hepatitis, Lymphocytosis, Skin rash, Thyroiditis, Inte... |
ORPHA:139402 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ... |
OMIM:618955 |
Wilson Disease |
|
Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He... |
ORPHA:905 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Skin rash, Arthr... |
OMIM:301074 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Persistent EBV viremia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune... |
OMIM:613011 |
Fusariosis |
|
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Pleural effusion, Myositis, Panniculi... |
ORPHA:228119 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Macrocephaly, Limbal dermoid, Polycyst... |
ORPHA:2969 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchioli... |
OMIM:266265 |
Immunodeficiency 32A |
|
Lymphadenitis, BCGitis, Granuloma, Lymphadenopathy, Recurrent infections |
OMIM:614893 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Pleural empyema, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess,... |
ORPHA:67 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... |
ORPHA:1303 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ... |
OMIM:614878 |
Mevalonic Aciduria |
|
Downslanted palpebral fissures, Anemia, Hepatosplenomegaly, Fluctuating splenomegaly, Failure to ... |
OMIM:610377 |
Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Esophag... |
ORPHA:88673 |
Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Sepsis, Abnormal rectum morphology, Rectal abscess... |
ORPHA:70475 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... |
ORPHA:1302 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec... |
OMIM:233690 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Respiratory distress, Tracheoesophageal fistula, Lymphadenopathy, Up... |
ORPHA:142 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Abnormal platelet granules, Gia... |
ORPHA:238459 |
Immunodeficiency 49 |
|
Short palpebral fissure, T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopeni... |
OMIM:617237 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Anteriorly placed anus, Throm... |
OMIM:618624 |
Kaposi Sarcoma |
|
Abnormality of the liver, Weight loss, Abnormality of the gastrointestinal tract, Skin rash, Gene... |
ORPHA:33276 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mellitus, Cataract, Corneal opa... |
ORPHA:290 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Recurrent respiratory infections |
ORPHA:1389 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... |
ORPHA:79127 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Epicanthus, Pancytopenia, Leukemia |
OMIM:614038 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso... |
ORPHA:391487 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... |
OMIM:619381 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi... |
OMIM:617591 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... |
ORPHA:555877 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... |
OMIM:620133 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Abnormality of the thymus, Absent tonsils, Abnormal... |
OMIM:611926 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Acholic stools, Eleva... |
ORPHA:65682 |
Gastrointestinal Stromal Tumor |
|
Anemia, Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... |
OMIM:613807 |
Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir... |
ORPHA:53035 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Developmental cataract, Lymphopenia, Failure to thrive, Cataract, Recur... |
OMIM:616395 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Thymoma, Non-caseating epithelioid ... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227990 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Gastroesophageal reflux, Cachexia, High palate |
OMIM:618186 |
Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Lymphopenia, Neutropenia |
OMIM:604250 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Multiple pulmonary cysts, Crackles, Hepatomeg... |
ORPHA:79128 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm... |
OMIM:301080 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly, Arrhythmia |
OMIM:255120 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Decreased response to growth hormone stimulation test, Enteroviral dermatomyositi... |
OMIM:307200 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr... |
OMIM:608233 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Thrombocy... |
ORPHA:69077 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Bronchiectasis, Abnormality of neutrophil morphology,... |
ORPHA:51636 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t... |
ORPHA:400 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia, Recurrent cand... |
OMIM:610163 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Hypothyroidism, Chronic oral candidiasis, Keratoconjunctivitis, Ch... |
OMIM:240300 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Sepsis, Decreased response to growth hormone stimulation test, ... |
ORPHA:293978 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Small for gestational age, Elevated hepatic transaminase, Megarectum, Hepatomegaly, C... |
OMIM:301056 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Type I diabetes mellitus, Pancytopenia, Failure to thrive, Cataract, Recurrent infections, Hepato... |
ORPHA:251009 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Eczema, Lymphopenia, Pancytopenia, Recurrent pneumonia, T... |
OMIM:617780 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... |
ORPHA:308552 |
Nijmegen Breakage Syndrome |
|
Anorectal anomaly, Hemolytic anemia, Recurrent respiratory infections, Cachexia, Recurrent sinopu... |
ORPHA:647 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia, Restrictive vent... |
OMIM:619767 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool alpha1-antitrypsin co... |
ORPHA:90362 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, A... |
ORPHA:411696 |
Microphthalmia, Syndromic 9 |
|
Blepharophimosis, Hypoplastic spleen, Multilobulated spleen, Cryptorchidism |
OMIM:601186 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Cataract, Nuc... |
ORPHA:79237 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ... |
ORPHA:39812 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of... |
OMIM:618849 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function |
ORPHA:229 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr... |
OMIM:261740 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Q Fever |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural effusion, Hepatomegaly, ... |
ORPHA:781 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... |
ORPHA:183675 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal stomach morphology, Abnormality of the perit... |
ORPHA:2357 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:411703 |
Lethal Congenital Contracture Syndrome 10 |
|
Downslanted palpebral fissures, Hypoplasia of the thymus |
OMIM:617022 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Recurrent respiratory infections, Ocular albinism, Epicanthus, Lym... |
OMIM:242840 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Lymphopenia |
OMIM:616636 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy |
OMIM:619259 |
Alpha-Mannosidosis |
|
Type II diabetes mellitus, Macrocephaly, Cataract, Corneal opacity, Hepatomegaly, Recurrent respi... |
ORPHA:61 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Recurrent sinusitis, Hepatic steatosis, Parathyroid hyp... |
OMIM:188400 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc... |
OMIM:306400 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacte... |
ORPHA:2688 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Anemia, Hepatic fibrosis, Exocrine pancreatic insufficiency, Blepharophimosis, Ly... |
OMIM:620005 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Hypoxemia, Airway obstruction, Irregular septal thickening on pulmonary HRCT... |
ORPHA:90060 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... |
ORPHA:449280 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Hepatosplenomegaly, Dysphagia, Respiratory failure, Respiratory i... |
ORPHA:2590 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis |
OMIM:615190 |
Treacher-Collins Syndrome |
|
Downslanted palpebral fissures, Blepharospasm, Hypoplasia of the thymus, Absent eyelashes, Thyroi... |
ORPHA:861 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Exertional dyspnea, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic... |
ORPHA:514 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Cardiomegaly, Hypertension |
OMIM:613320 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Elevated hepatic transaminase, Lymp... |
ORPHA:100 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Panniculitis, Neutropenia, ... |
OMIM:301081 |
Shwachman-Diamond Syndrome |
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Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevated hepatic trans... |
ORPHA:811 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Abnormal pulmonary interstitial morpho... |
ORPHA:2072 |
Sandhoff Disease |
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Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension,... |
OMIM:268800 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Cachexia, Failure to thrive in infancy |
OMIM:616801 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Gaucher Disease, Type Ii |
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Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Death in infancy, Apnea, Failure... |
OMIM:230900 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Recurrent aphthous stomatitis, Crohn's disease, Weight loss, Ulcerative colitis, Inflammation of ... |
OMIM:266600 |
Shigellosis |
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Conjunctivitis, Intestinal perforation, Myocarditis, Hepatic failure, Failure to thrive in infanc... |
ORPHA:810 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
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Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, High palate, Eczema, Cu... |
OMIM:618282 |
Congenital Disorder Of Glycosylation, Type Ii |
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Hypothyroidism, Upslanted palpebral fissure, Decreased body weight, Epicanthus, Iris coloboma, Ca... |
OMIM:607906 |
Immunodeficiency 56 |
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Cirrhosis, Hepatic failure, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... |
OMIM:615207 |
Glycogen Storage Disease Iv |
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Hepatic failure, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Esophageal varix, Portal hyper... |
OMIM:232500 |
Familial Pancreatic Carcinoma |
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Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Jaundice, N... |
ORPHA:1333 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Intestinal perforation, Colonic diverticula, Weight loss, Malabsorption, Cachexia, Gastrointestin... |
OMIM:603041 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Aspiration pneumonia, Dyspnea, Cough, Dysphagia, Respiratory failure, Respiratory failure requiri... |
ORPHA:90117 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Neonatal death, Death in infancy, Cardiomyopathy |
OMIM:618839 |
Legionnaires Disease |
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