| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... |
OMIM:619773 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... |
OMIM:300635 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... |
OMIM:618944 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... |
OMIM:312863 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatom... |
OMIM:269840 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Anorexia, Histiocytosis, ... |
OMIM:209950 |
| Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... |
OMIM:619632 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... |
OMIM:615615 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Herpes simplex encephalitis, Increased circu... |
OMIM:618982 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... |
OMIM:607271 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... |
OMIM:613953 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... |
OMIM:618534 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Mucoid d... |
OMIM:615767 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... |
OMIM:247800 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Immunodeficiency 102 |
|
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... |
OMIM:301082 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased CD4:CD8 ratio, Au... |
OMIM:618495 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatomegaly, Decreased liver function, Abnormality of tumor necrosis factor se... |
ORPHA:158061 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased proportion of cla... |
OMIM:615513 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased circulating beta-2-microglobulin level, Decreased proportion of CD4-positive helper T c... |
ORPHA:572 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Chronic oral candidiasis, Decreased p... |
ORPHA:276 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Eczema, I... |
OMIM:243700 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
| Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Cough, Decreased prealbumin level, Dysphagia, Malnutrition, ... |
ORPHA:930 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... |
OMIM:616100 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... |
OMIM:618394 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Decreased specific anti-polysaccharide antibody level, Decrease... |
OMIM:300853 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Hemophagocytosis, Aplastic anemia, Neutropenia, Fulminant hepat... |
OMIM:308240 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... |
OMIM:617638 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Skin rash, Increased CD4... |
OMIM:618048 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Hepatomegaly,... |
OMIM:615559 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, B lymphocytopenia, Diarrhea, C... |
OMIM:601457 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Abdominal pain, Hepatos... |
OMIM:619802 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circul... |
OMIM:226990 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, T lymphocytopenia, Recurrent otitis media, Diarrhea, Pneum... |
OMIM:608971 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Increased circulating interleukin 6 concentration, Diffuse alveolar hemorrhage, Aspl... |
OMIM:614034 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Low-set ears, Hyperactivity |
ORPHA:436151 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio,... |
OMIM:617006 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... |
OMIM:613502 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Abnormality of humoral immunity, Increased circulating IgE ... |
ORPHA:277 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased proportion of HLA DR+ T cells, Hepatomegaly, Increased circulating IgM level, Decreased... |
OMIM:603909 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia |
OMIM:242880 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... |
ORPHA:217390 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... |
ORPHA:2442 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic hepatitis, Hemolytic anemia, Hypoxemia, Recurrent lower respiratory tract infections, Hep... |
OMIM:308230 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Inflammation of the larg... |
ORPHA:2137 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... |
OMIM:618108 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver |
OMIM:235550 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Malabsorption, Colitis, Gastritis, N... |
ORPHA:37042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Decreased circ... |
OMIM:300988 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... |
OMIM:617514 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... |
OMIM:619281 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... |
OMIM:612692 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Celiac dise... |
OMIM:618969 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Hypoproteinemia, Lung abscess, Decreased circulating beta-2-mic... |
OMIM:241600 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Biliary tract abnormality, Recurrent urinary tract infections, Malabsorption, Cutane... |
OMIM:209920 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Recurrent respiratory infections, Skin rash, Cough, Malabsorption, Arthriti... |
ORPHA:33110 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Elevated circulating creatine kinase concentration, Abdominal pain, ... |
ORPHA:454836 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... |
ORPHA:443811 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
| Immunodeficiency 92 |
|
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... |
OMIM:619652 |
| Adult-Onset Still Disease |
|
Myocarditis, Pleuritis, Abnormal circulating lipid concentration, Leukocytosis, Skin rash, Restri... |
ORPHA:829 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia, Ulcerative colitis, Bloody diarrhea, Elevated circulating C-reactive protei... |
OMIM:619398 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Hypertriglyceridemia, Abnormal natural kil... |
OMIM:613101 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Increased circulating IgG4 level, Increased circulating antibo... |
ORPHA:449400 |
| Boutonneuse Fever |
|
Maculopapular exanthema, Leukopenia, Skin rash, Renal insufficiency, Elevated hepatic transaminas... |
ORPHA:83313 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:601859 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
| Complement Component C1R/C1S Deficiency |
|
Arthritis, Complement deficiency, Discoid lupus rash, Nephritis, Recurrent bronchitis |
OMIM:216950 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... |
OMIM:613490 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... |
OMIM:618986 |
| Ebola Hemorrhagic Fever |
|
Dyspnea, Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Poor appetite... |
ORPHA:319218 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... |
OMIM:619510 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent otitis media, ... |
OMIM:240500 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat... |
ORPHA:444463 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased proportion of class-... |
OMIM:613493 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Anemia, Malabsorption, Ar... |
ORPHA:47 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Hepatome... |
OMIM:617388 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Feeding difficulties, Bronchiolitis obliterans, Increased circulating I... |
OMIM:617241 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Chronic bronchitis, Decreased circulating IgA level, Decreased c... |
OMIM:614069 |
| Aspergillosis |
|
Pleuritis, Abnormality of the kidney, Chronic pulmonary obstruction, Dyspnea, Sinusitis, Abnormal... |
ORPHA:1163 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... |
OMIM:619707 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
| Selective Igm Deficiency |
|
Chronic sinusitis, Decreased specific antibody response to vaccination, Decreased proportion of C... |
ORPHA:331235 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Recurrent respiratory infections, Malar rash, Leukopenia, Skin r... |
OMIM:615934 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney dise... |
OMIM:613496 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Bronchiectasis, Recurrent upper respiratory tract infections, De... |
OMIM:193670 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
| Legionnaires Disease |
|
Myocarditis, Abdominal pain, Proteinuria, Endocarditis, Restrictive ventilatory defect, Anorexia,... |
ORPHA:549 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... |
OMIM:614699 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Intractable diarrhea, Colitis, Decreased circulating total IgA, Abdominal pain, Gastritis, Anoper... |
OMIM:619381 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... |
OMIM:243150 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Elevated circulating alanine aminotransferase concentration, Dec... |
OMIM:616636 |
| Immunodeficiency 56 |
|
Cholangitis, Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract,... |
OMIM:615207 |
| Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Decrease... |
ORPHA:3261 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Ileus, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, ... |
OMIM:304790 |
| Agammaglobulinemia, X-Linked |
|
Recurrent lower respiratory tract infections, B lymphocytopenia, Complete or near-complete absenc... |
OMIM:300755 |
| Lymphoproliferative Syndrome 1 |
|
Stomatitis, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... |
OMIM:613011 |
| Simple Cryoglobulinemia |
|
Abnormality of the kidney, Monoclonal immunoglobulin M proteinemia, Increased circulating IgM lev... |
ORPHA:91139 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... |
OMIM:300310 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Hypothyroidism, ... |
OMIM:614700 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... |
OMIM:620210 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... |
OMIM:619752 |
| Igg4-Related Kidney Disease |
|
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Increased circulating IgG4 le... |
ORPHA:449395 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
| Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, ... |
ORPHA:178320 |
| Brucellosis |
|
Myocarditis, Leukocytosis, Granuloma, Hepatomegaly, Abdominal pain, Increased circulating IgM lev... |
ORPHA:1304 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dyspnea, Aspiration pneumonia, Cough, Elevated circulating creatine kinase concentration, Dysphag... |
ORPHA:90117 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Anorexi... |
ORPHA:507 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Chronic otitis media, Eczematoid dermatitis, Recur... |
ORPHA:83471 |
| Tularemia |
|
Leukocytosis, Increased circulating antibody level, Skin rash, Cough, Anemia, Respiratory distres... |
ORPHA:3392 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Reduced antigen-specific T cell proli... |
ORPHA:331206 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Jaundice, Leukopenia, Pyloric stenosis, Abnormality of ... |
ORPHA:381 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... |
OMIM:616098 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney... |
OMIM:617303 |
| Papa Syndrome |
|
Proteinuria, Increased inflammatory response, Increased circulating antibody level, Pustule, Arth... |
ORPHA:69126 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Elevated circulating creatine kinase concentration, Abdominal pain, Nau... |
ORPHA:36234 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Hemophagocytosi... |
ORPHA:39812 |
| Autoinflammation With Infantile Enterocolitis |
|
Diffuse alveolar hemorrhage, Secretory diarrhea, Skin rash, Anemia, Feeding difficulties in infan... |
OMIM:616050 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Increas... |
OMIM:613179 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Abnormality of the gastrointestinal tract, Dyspnea, Atopic dermatitis, Leukocy... |
ORPHA:2902 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
| Igg4-Related Pachymeningitis |
|
Dyspnea, Increased circulating IgG4 level, Pancreatitis, Lymphadenitis, Parotitis, Eosinophilia, ... |
ORPHA:449427 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Recurrent lower respiratory tract infections, Decreased specific pneumococcal ... |
ORPHA:183675 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
| Primary Biliary Cholangitis |
|
Gastrointestinal inflammation, Increased circulating IgA level, Abnormal circulating lipid concen... |
ORPHA:186 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Acute otitis media, Recurrent respiratory infections, Decreased circulating t... |
ORPHA:35078 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Increased circulating antibody level, Anemia, Extramedullary hematopoiesis, Enlarged ... |
OMIM:615285 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Abscess, Increased circulating IgE level, Neu... |
OMIM:615816 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Increased circulating antibody level, Hemolytic anemia, Leukemi... |
OMIM:614470 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG leve... |
OMIM:618987 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Acute kidney injury, Decreased circulating IgA level, Lymphopeni... |
ORPHA:859 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Neutropenia, Recurrent lower respiratory tract infections, Absent ... |
OMIM:613501 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Hemophagocytosis, Colitis, Reduced natural killer cell activity, Hepatom... |
ORPHA:540 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
| Lymphangiectasia, Intestinal |
|
Malabsorption, Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia, Intestinal... |
OMIM:152800 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
EEG with generalized epileptiform discharges, Fasting hyperinsulinemia, Attention deficit hyperac... |
ORPHA:35878 |
| Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Esophageal carcinoma, Hep... |
ORPHA:139507 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Chronic bronchitis, Decreased circulating IgA level, Reduced natural killer cell c... |
OMIM:242860 |
| Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Leukopenia, Skin rash,... |
ORPHA:292 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Rectal fistula, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:616433 |
| Familial Mediterranean Fever |
|
Peritonitis, Pleuritis, Leukocytosis, Erysipelas, Hepatomegaly, Abdominal pain, Neutrophilia, Ele... |
OMIM:249100 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... |
OMIM:605258 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, ... |
OMIM:602450 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Urinary retention, Hepatomegaly, Hepatosplen... |
ORPHA:79124 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Decreased response to growth hormone s... |
OMIM:307200 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Hematochezia, Elevated circulating aspartate aminotransferase concen... |
OMIM:613812 |
| Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
| Complement Component C1S Deficiency |
|
Hepatitis, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased proportion of clas... |
OMIM:614878 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent otitis... |
OMIM:618523 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... |
OMIM:613500 |
| Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Elevated haptoglobin level, Abdomin... |
ORPHA:48435 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Chronic diarrhea, Reduced ... |
OMIM:102700 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Recurrent respiratory infections, Anal atresia, Hemolytic anemia, Abnormali... |
ORPHA:1572 |
| Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... |
ORPHA:90280 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
| Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Stage 5 chronic kidney disease, Chro... |
ORPHA:101330 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Autoimmune hemolytic anemia, A... |
OMIM:616576 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... |
OMIM:619858 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... |
ORPHA:723 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Steatorrhea, Hepatomegaly, Prolo... |
ORPHA:79303 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Asthma, Allergic rhinitis |
OMIM:147050 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Hashimoto thyroiditis, Recurrent aphthous stomatitis, Skin rash, Decreased proportion of CD3-posi... |
ORPHA:275 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Ag... |
OMIM:615214 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... |
OMIM:615952 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent otitis media, Recurrent pneumonia, Decreased circulating comp... |
OMIM:614379 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Hep... |
ORPHA:100024 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG |
OMIM:613495 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Leukocytosis, Hypochromic anemia, Increased circulating IgE lev... |
OMIM:618213 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Gout, Hyperuricemia, Decreased glomerular filtration rate, Renal insuffici... |
OMIM:162000 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration, Inflammatory abnormality of the skin, B lymp... |
ORPHA:391487 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepati... |
OMIM:607765 |
| Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Anemia, Hepatomegaly, Arthritis, Increased circulating IgM level, Spleno... |
ORPHA:37748 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Skin rash, Increased proportion of CD4-positive T ... |
OMIM:617099 |
| Q Fever |
|
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Hepatosplenomegaly, Endocarditis, ... |
ORPHA:781 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Cystic acne, Sterile arthritis, Colitis, Arthritis, Microcytic anemia, Acne, ... |
OMIM:604416 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Cough, Hypoxemia, Nonproductive cough, Neutrophilia... |
ORPHA:36238 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hypohidrosis, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibod... |
OMIM:614576 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... |
ORPHA:911 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent respiratory infections, Atopic dermatitis, Increased circulating IgE level, Chronic muc... |
OMIM:618282 |
| Immunodeficiency 11 |
|
Recurrent respiratory infections, Reduced antigen-specific T cell proliferation, Monocytopenia, A... |
OMIM:615206 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Hematuria |
OMIM:314000 |
| Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Decreased circulating complement C3 concentration, Decreased circulating compleme... |
ORPHA:93552 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abdominal pain, Abnormal biliary tract morphology, Chol... |
ORPHA:171 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... |
OMIM:615139 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Acute hepatic failure, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Rena... |
ORPHA:139402 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
| Beta-Thalassemia |
|
Anemia, Respiratory insufficiency, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatiti... |
ORPHA:848 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Acne inversa, Chronic m... |
OMIM:618204 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Chronic oral candidiasis... |
OMIM:606367 |
| Multiple Myeloma |
|
Increased circulating IgA level, Acute kidney injury, Anemia, Hyperproteinemia, Nephropathy, Func... |
ORPHA:29073 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Impaired oxidative burst, Hemolytic anemia, Abscess, Anal fissure, Granuloma,... |
OMIM:618935 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Recurrent lower respiratory tract infections, D... |
OMIM:615758 |
| Immunodeficiency 76 |
|
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Recurrent bronchiolitis, Splenomega... |
OMIM:619164 |
| Cystic Echinococcosis |
|
Biliary tract obstruction, Hepatomegaly, Pulmonary cyst, Elevated circulating alkaline phosphatas... |
ORPHA:400 |
| Immunodeficiency 58 |
|
Chronic otitis media, Chronic pulmonary obstruction, Decreased specific antibody response to vacc... |
OMIM:618131 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... |
OMIM:178500 |
| C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... |
ORPHA:329918 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... |
OMIM:301081 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE l... |
OMIM:147060 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Abnormal intestine morphology, Autoimmune hemolytic anemia, Ano... |
OMIM:615607 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Gastroesophageal reflux, Hashimoto thyroiditis, Decreased circu... |
OMIM:613385 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Insulin-Resistance Syndrome Type B |
|
Increased circulating IgA level, Abnormal circulating lipid concentration, Proteinuria, Leukopeni... |
ORPHA:2298 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Systemic Lupus Erythematosus |
|
Pleuritis, Malar rash, Leukopenia, Hemolytic anemia, Lupus nephritis, Arthritis, Thrombocytopenia... |
OMIM:152700 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Graves disease, Biliary cirrhosis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditi... |
ORPHA:227990 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Inflammation of the lar... |
OMIM:301074 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Jaundice, 3-hydroxydicarboxylic aciduria, Elevated circulating alanine ami... |
OMIM:613070 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Recurrent lower respiratory tract infections, Hepatomegaly, Chilblains, Bloody ... |
OMIM:615846 |
| Primary Sjögren Syndrome |
|
Biliary cirrhosis, Abnormality of the kidney, Chronic active hepatitis, Chronic hepatitis, Kerato... |
ORPHA:289390 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Reduced delayed hypersensitivity, Recurre... |
OMIM:242700 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic anemia, Pri... |
ORPHA:227982 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interferon-gamma concentration, Acute kidney injury, Increased circulating ... |
ORPHA:542323 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia |
OMIM:222100 |
| Shigellosis |
|
Peritonitis, Myocarditis, Bloody mucoid diarrhea, Leukocytosis, Tenesmus, Cholestasis, Urethritis... |
ORPHA:810 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... |
ORPHA:229717 |
| Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Abnormal liver sonography, Neoplasm of the liver, Elevated circulating... |
ORPHA:90003 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Hemophagocytosis, Hyperlysinuria, Decreased glomerular filtration rate, Hyperalan... |
ORPHA:470 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Elevated carcinoembryonic antigen le... |
ORPHA:264675 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Cholestatic liver disease, Renal tubular atrophy, Nephrocalcinosis, Reduced renal corti... |
OMIM:208085 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pleuritis, Leukocytosis, Hemolytic anemia, Abdominal pain, Bloody diarrhea, Nausea, ... |
ORPHA:544482 |
| Rift Valley Fever |
|
Jaundice, Skin rash, Anemia, Uveitis, Anorexia, Elevated hepatic transaminase, Increased circulat... |
ORPHA:319251 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Skin rash, Anemia, Myositis, Hepatomegaly, Elevated hepatic... |
OMIM:617591 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Feeding difficulties, Aspiration pneumonia, Respiratory distress, Upper airway obstructi... |
ORPHA:141152 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Thrombocytopenia |
ORPHA:3327 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Pyloric stenosis, Central ... |
OMIM:615577 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Bronchiolitis obliterans organizing pneumonia, Lymphopenia, T lymphocyto... |
OMIM:615518 |
| Immunodeficiency 12 |
|
Absent isohemagglutinin level, Abnormal lymphocyte count, Skin rash, Recurrent aphthous stomatiti... |
OMIM:615468 |
| Trichohepatoenteric Syndrome 2 |
|
Chronic hepatitis, Villous atrophy, Hepatomegaly, Colitis, Cirrhosis, Bloody diarrhea, Diarrhea, ... |
OMIM:614602 |
| Alstrom Syndrome |
|
Hyperuricemia, Tubulointerstitial nephritis, Chronic active hepatitis, Renal insufficiency, Hepat... |
OMIM:203800 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Thrombocytopenia, Eczema, Defective T cell proliferation, D... |
OMIM:614493 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... |
OMIM:617519 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Pulmonary fibrosis, Decreased c... |
OMIM:611926 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Helicobacter pylori infection, Lymphopenia, Increased circulating ... |
ORPHA:2688 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Macrotia, Optic atrophy, Hyperactivity |
OMIM:300928 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Proteinuria, Nephrocalcinosis, Glycosuria, Hepatomegaly, Ele... |
OMIM:613404 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Spleno... |
OMIM:603554 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis, Vomiting, Pustule,... |
OMIM:616069 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis |
OMIM:114550 |
| Drug-Induced Lupus Erythematosus |
|
Dyspnea, Malar rash, Anemia, Increased blood urea nitrogen, Elevated circulating creatine kinase ... |
ORPHA:231111 |
| Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Abnormality of serum cytokine level, Anorexia, Elevated hepatic transam... |
ORPHA:297 |
| Whim Syndrome |
|
Atelectasis, Severe periodontitis, Lymphadenitis, Lymphopenia, Respiratory tract infection, Parot... |
ORPHA:51636 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentra... |
OMIM:214950 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Recurrent i... |
OMIM:256500 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... |
OMIM:301000 |
| Myh9-Related Disease |
|
Proteinuria, Congenital thrombocytopenia, Renal insufficiency, Elevated hepatic transaminase, Nep... |
ORPHA:182050 |
| Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Dyspnea, Increased circulating interleukin 6 conc... |
ORPHA:70578 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, Recurrent otitis media, Abnormal B cell morphology, Abnormal na... |
OMIM:615617 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Homoc... |
OMIM:238970 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abdominal pain, Nausea, Lactose intolerance, Esophageal exudate, Feeding difficulties in infancy,... |
ORPHA:411696 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Increased circulating a... |
ORPHA:449432 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis |
ORPHA:411593 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:99827 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Adult-Onset Nemaline Myopathy |
|
Feeding difficulties, Respiratory insufficiency due to muscle weakness, Paraproteinemia, Neuromus... |
ORPHA:171442 |
| Microsporidiosis |
|
Peritonitis, Myocarditis, Urethritis, Abdominal pain, Bronchiolitis, Nausea, Abnormality of the s... |
ORPHA:2552 |
| Tempi Syndrome |
|
Abnormality of the kidney, Polycythemia, Hypoxemia, Transudative pleural effusion, Increased circ... |
ORPHA:284227 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Hematochezia, Elevated hepatic transaminase, Elevated circulating crea... |
ORPHA:79095 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia... |
OMIM:266265 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Pulmonary arterial hypertension, Dyspnea, Chronic hepatitis, Elevated circulating... |
OMIM:614921 |
| Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
| Wilson Disease |
|
Hemolytic anemia, Hypouricemia, Hypoparathyroidism, Hepatomegaly, Osteoarthritis, Renal tubular d... |
OMIM:277900 |
| Secondary Intestinal Lymphangiectasia |
|
Secondary hyperaldosteronism, Intestinal lymphedema, Malabsorption, Gastrointestinal eosinophilia... |
ORPHA:90363 |
| Al Amyloidosis |
|
Abnormality of the kidney, Hepatomegaly, Albuminuria, Elevated circulating alkaline phosphatase c... |
ORPHA:85443 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... |
OMIM:301078 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Prolidase Deficiency |
|
Increased circulating antibody level, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:170100 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Liver abscess, Leukocytosis, Anemia, Acute colitis, Cough, Intestinal obst... |
ORPHA:67 |
| Riddle Syndrome |
|
Bronchitis, Decreased circulating total IgM, Chronic sinusitis, Enuresis nocturna, Restrictive ve... |
ORPHA:420741 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Stage 5 chronic kidney disease, Cough, Renal insufficiency, Per... |
OMIM:619468 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG leve... |
ORPHA:2643 |
| Cryoglobulinemic Vasculitis |
|
Circulating immune complexes, Cryoglobulinemia, Proteinuria, Glomerulopathy, Abnormality of the l... |
ORPHA:91138 |
| Roifman Syndrome |
|
Hepatosplenomegaly, Eczema, Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased ... |
ORPHA:353298 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia, Recurrent otitis media, Recurrent pneumonia, Bronc... |
OMIM:601495 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... |
OMIM:610910 |
| Coccidioidomycosis |
|
Peritonitis, Abnormality of the kidney, Granuloma, Increased circulating IgM level, Abnormality o... |
ORPHA:228123 |
| X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Abnormal pleura morphology, Functional abnormality of the bladd... |
ORPHA:2571 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased glomerular filtration rate, Dyspepsia, Hepatomegaly, Abdominal pain, Nausea, Decreased ... |
ORPHA:85450 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Bloom Syndrome |
|
Chronic pulmonary obstruction, Acute lymphoblastic leukemia, Respiratory failure, Nephroblastoma,... |
ORPHA:125 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Pust... |
ORPHA:48104 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... |
OMIM:608184 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Crohn's disease, Pyoderma, Folliculitis |
OMIM:613148 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema, Celiac disease |
OMIM:618985 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Decreased circulating IgG2 level, Elevated circulating alpha-fetoprotei... |
OMIM:208900 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Decreased glomerular filtration rate, Anuria, Abdominal pain, Nausea, Respiratory f... |
ORPHA:340 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... |
ORPHA:486 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Zygomycosis |
|
Peritonitis, Myocarditis, Atelectasis, Colitis, Abdominal pain, Gastritis, Nausea, Pneumothorax, ... |
ORPHA:73263 |
| Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Periodontitis, Decreased level of plasminogen, Recurrent upper respiratory tract... |
OMIM:217090 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Tubulointerstitial nephritis, Methylmalonic acidemia, Stage 5 chronic... |
OMIM:251000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Episcleritis, Erythema nodosum, Increased circulating interferon-gamma concentratio... |
OMIM:256040 |
| Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i... |
ORPHA:3243 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Alport Syndrome 3, Autosomal Dominant |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Nephrocalcinosis, Stage... |
OMIM:104200 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Asthma, Erythroderma |
OMIM:270300 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Good Syndrome |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Dyspnea, Anemia, Cough, Dys... |
ORPHA:169105 |
| Mevalonic Aciduria |
|
Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Normocytic hypoplastic an... |
OMIM:610377 |
| Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity |
OMIM:239500 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Abnormality of the kidney, Orchitis, Increased circulating IgG4 level, Colon cancer,... |
ORPHA:449563 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... |
OMIM:612444 |
| Wilson Disease |
|
Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami... |
ORPHA:905 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Shwachman-Diamond Syndrome |
|
Hypopituitarism, Hepatomegaly, Macrocytic anemia, Malnutrition, Acute myeloid leukemia, Pancreati... |
ORPHA:811 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Melioidosis |
|
Splenic abscess, Lung abscess, Liver abscess, Osteoarthritis, Respiratory tract infection, Paroti... |
ORPHA:31202 |
| Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Proteinuria, Abnormal intestine morphology, Lymphopenia, Hyperli... |
ORPHA:1830 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis, Hypoalbuminemia |
ORPHA:88643 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal interstitial edema, Decreased glomerular filtration rate, Abdominal pain, Renal neutrophili... |
ORPHA:91500 |
| Late-Onset Isolated Acth Deficiency |
|
Graves disease, Hyperuricemia, Normocytic anemia, Hashimoto thyroiditis, Adrenocorticotropin defi... |
ORPHA:199299 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Proteinuria, Leukopenia, Biliary tract obstruction, Increased ci... |
ORPHA:77259 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransf... |
ORPHA:228302 |
| Immunodeficiency 47 |
|
Cholestasis, Decreased circulating copper concentration, Hepatomegaly, Decreased circulating tota... |
OMIM:300972 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased proportion of cla... |
OMIM:619126 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Abnormal respiratory system physiology, Tubulointerstiti... |
ORPHA:330015 |
| Hyper-Igd Syndrome |
|
Increased circulating IgA level, Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Skin ras... |
OMIM:260920 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Hiatus hernia, Hepat... |
OMIM:610199 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia |
ORPHA:464370 |
| Hardikar Syndrome |
|
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Abdominal pain, Decreased li... |
OMIM:301068 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Dominant Beta-Thalassemia |
|
Hypopituitarism, Chronic hepatitis, Hypoparathyroidism, Hypothyroidism, Hepatosplenomegaly, Dyspn... |
ORPHA:231226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Aspiration pneumonia, Hyperammonemia, Feeding difficulties, Respiratory insufficiency, Apnea, Dys... |
OMIM:618253 |
| Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Reduced xanthine dehydrogenase level, H... |
OMIM:278300 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus |
OMIM:618856 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis |
ORPHA:319552 |
| Mccune-Albright Syndrome |
|
Benign gastrointestinal tract tumors, Elevated circulating growth hormone concentration, Gastroes... |
ORPHA:562 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... |
OMIM:266600 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... |
OMIM:615190 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Increased circulating IgG4 level, Hashimoto thyroiditis, Hypothyroidism, Retroper... |
ORPHA:64744 |
| Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Decreased proportion of class-switched memory B cells, Ski... |
OMIM:619374 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Abnormality of the urinary system, Hyperhidrosis, Anemia |
ORPHA:79406 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
| Transient Neonatal Diabetes Mellitus |
|
